Where do I begin???

Where, with a child like Madilyn, do I even begin to explain to people how fragile her life is?  Where do I begin so they can understand that just because they "don't see that" that it doesn't make it not very real for us?  I see the look of shock and disbelief on people's faces when I say she has no cerebellum, it's just a fluid filled cyst. She shouldn't be able to breathe or move much less talk or walk or understand anything that she does.
How do I make them understand the fear that I'm constantly trying to keep under wraps that one day I will wake up and she'll no longer be with us.  Every time I read a post about a Dandy-walker child that went for a nap or to bed and was fine and never woke up my fear takes over.  It happens way too often and nobody talks about it.  It's devastating to watch other families we've met online say good-bye to their children with no rhyme, reason or warning.
How do I make someone understand how much extra effort and stress it takes Madilyn's little body to just function each and every day?  Add to that her Adrenal Insufficiency and complex X-chromosome abnormality and we are in completely unchartered waters. 
How do you make someone understand that there is not another person ever to have her complex X-chromosome abnormality and it is not compatible with life.... so how is she alive still at 6 years old?  Nobody knows...
We have genetics specialists around the world and 17 specialists here and they don't know, they don't understand how or why.... she's rewriting genetics history... she's disproving hundreds of years of genetics research.... how do you make people understand that when they just look at you like you're nuts when you try to explain it?
How do you make someone understand that something as simple as going to school in a very controlled and well thought out environment was killing her?  When their main worry is what did they do wrong and why can't she come just one day a week for the teacher time?  Why do I have to involve our medical team to attempt to make them understand that I'm not nuts... it truly is our life.  It really is too much and not just a parental wish to keep their child home.
How do you make someone understand how much work and time it takes just to be able to get her through the grocery store without being overwhelmed?  How do I get them to understand the devastation of finally reaching that point and then having it all taken away because we tried something new and pushed her little body too far??  How do I get them to understand the grieving process of having to start to learn those things all over again just so we aren't prisoners in our own home?
How do I get them to understand how upsetting it is to watch her struggle in an environment that previously was her happy place?  A place outside of our home that she was thriving in and now is struggling because we tried school?  How do we get them to understand that we're not making it up and we're not doing it to inconvenience them and it truly is detrimental to her health to be in that environment even when we/they are doing everything right?....it's simply too much for her....she doesn't fit in their tidy little box of diagnosis and "kids we've worked with" and never will.
How many times will I have to repeat myself over and over and in the end they don't understand anyway?
How do you get them to understand that when I say we have to pick and choose our battles it's not a simple choice?  Some days hair brushing and taking footie pj's off is the end of the world and a battle we don't choose.  Some days are full of non-stop playing but more often than not they are like today... she alternates laying in her playroom and the living room.... she sits and cries and yells at me while holding up the corner of the pink yoga mat that she has claimed as her own and she doesn't have the energy to drag it into the other room herself.... but it's a must have for her to lay on with her pillow and her minnie mouse blanket.... so I drag it from room to room and set it up and tuck her in and pick the right cartoon after a million tries and I wait for her to smile and ask me for kisses and then I hide in the other room and cry....
I cry because of the guilt of pushing her too far because I wanted something normal... I wanted her to go to school... I wanted an occasional break... I cry because sometimes no matter what I can't figure out what she wants or what she's trying to tell me.... I cry because I'm exhausted and I'm tired of trying to get other people to understand... I cry for all of the "normal" things that we will probably never do that I had previously taken for granted.  I cry.....
and then I move on...I get out the blocks and puzzles that she can do while laying on her precious yoga mat and I lay on the floor and I play with her and I love her and I send out a little wish that I have many many more opportunities repeat this struggle because it means she's here with us and whether people understand or not, her being here is the most important thing and I will protect her and advocate for her until my last breath...
I always thought it would get easier as she got older but that most definitely is NOT the case... the struggle is real.... and so are the little pink shoes that have kept us going for the past six years.. after all.... those little pink shoes are what life is all about and if they could simply understand that life would be a whole lot easier.

Adrenal Insufficiency sucks

AI would suck enough if you could talk and explain exactly what you feel to someone... AI in a child who can talk would suck more... AI in a non-verbal, cognitively impaired child is horrible.  It's one giant guessing game about how she feels.  Up dose a little to much and she's wound tight, under dose a little or try to wean and she's aggressive and the vomit reappears.   UGH!!

Her endocrine doctor wanted us to wean back a little on her daily dosing because it's technically at an adult dose but it's apparently what her little body needs right now.  One minuscule little decrease and the big circles around her eyes are back, the vomiting is back and she's sleeping horribly.  We'll up dose again for a while and try again.  I feel like the little engine that could sometimes, constantly chanting to myself "I think I can, I think I can".  It really sucks sometimes knowing that how she feels and is able to function is all dependent on me being able to read her needs since she is unable to tell me.  I know I have big shoulders but it's really heavy sometimes.... especially at 6 am when she's kicking my ass and being an aggressive little monster and I don't know how to help her.  This morning it consisted of her getting baby gated into the play room.  She clocked me in the face and I just needed to separate myself.  She was able to sit in there and throw her toys everywhere and yell (I'm pretty sure our neighbors think we are lunatics) for over an hour until her steroids peaked and she finally calmed down. *Note the completely trashed room below

We tried going back to school because Madilyn loves to be outside the house but it didn't work.  She gets so overwhelmed just pulling up there.  The school was willing to work with us this fall but with this attempt to go back they were "willing to work with us" but not really.  Not in any way that is appropriate for Madilyn or her disease. She scares them and they could no longer hide that.  I get it, she used to scare me too (hahaha)... she's not obligated to be in school until fall so we'll see then if it's in school or home based, either way I refuse to ever force another person (teacher or otherwise) to be responsible for my child when they are uncomfortable with her.  Her life depends on their ability to care for her.  In the meantime we are impatiently waiting for the call from the rehab facility to start outpatient therapies.  Physical, occupational, vision and speech... I think the regular weekly outings will be good for us.  They're working on aqua therapy too but we may have to travel to Milwaukee weekly for that one.  I think it would be worth it though so we'll see what they decide.

We are definitely enjoying that since our move we are able to get out in the stroller at this time of year for walks.  It's so peaceful to go down by the lake and being outside anywhere is Madilyn's favorite thing to do. Here's some pictures from yesterday's stroll:

Time for me to stop hiding since the lovable little miss has decided to finally surface.  It's time to build some puzzles and maybe shop for some new little pink shoes....

My Hydrocephalus sweetheart!

Hey everybody..sorry we weren't around this summer but it was summer and ours was crazy!  With summer typically comes camping, bonfires and lots of beach days, but not for us.  We do try to enjoy a bonfire or two but usually only one beach day.  Madilyn has Hydrocephalus caused by her Dandy-Walker malformation.  It's excessive build up of spinal fluid in her brain.  Her ventricles do not work properly so they placed a VP shunt to regulate the fluid when she was around 5 months old.  At that point her head was growing 5 times faster than her body and the excess fluid was starting to literally crush her brain.  The shunt is amazing and traumatizing all in the same moment.  We are thankful for the relief it brings and traumatized by what happens when it malfunctions.

Our first shunt malfunction was in March of 2014.  Madilyn woke up from a nap (she never naps...first clue something was wrong) and her eyes just didn't look right to me. They seemed really puffy and they did a ton of bouncing which wasn't normal.  After talking with my husband I took her to our local emergency room and a few hours later we were on a med flight to our Children's hospital. By the time we arrived at Children's Madilyn had begun to twitch on her left side and had lost all strength.  I could not keep her awake or rouse her.  Her shunt series x-rays appeared normal to the doctor that looked at them and he was ready to send us home.  I ended up screaming in the emergency room at the doctor to do something because my child was dying and they were doing nothing.  I've never been so scared and angry in my entire life.  The doctor agreed to order a quick MRI to keep me quiet and proceeded to inform me that the results could take quite a while and then we would be discharged.  Thirty minutes later as I'm sitting in a chair with Madilyn begging her to hang on and not leave me the same doctor came running into the room apologizing and telling me that the surgery team was coming to get us.  It showed up on the MRI that the catheter part of her shunt had dislodged from ventricle and the fluid was building so fast it was crushing her brain and killing her.  I was shocked after surgery at how quickly she bounced back.  The very next morning she was up and playful and ready to go, even with approximately 20 stitches and a 2 inch gash in her skull where they had just been digging around in her brain 16 hours prior.

Our second shunt malfunction happened way to quickly after the first.  September 25, 2014, barely 6 months and Madilyn took an excessively long nap, was extremely hard to wake up, the bouncing eyes were back and the vomit started.  Off to the ER again for a med flight we went.  Thankfully this one didn't get quite as extreme as the first one but the recovery was much harder for her and we were inpatient for an entire week.

I am absolutely terrified of another shunt malfunction, I have no problem admitting that.  I can't really put into words how traumatic it is to go through.  I think I prayed to everything I could think of and probably would've made a deal with the devil in those moments to not take my sweet child.  It terrifies me to know it can and will happen again.  It's life with Hydrocephalus.  It's life when you rely on a piece of equipment to do what the body can't.  I'm so thankful for that equipment and our neurosurgeons and at the same time out of all of her diagnosis Hydrocephalus is probably the one I hate the most.

Back to summer with Hydrocephalus....heat and humidity = boatloads of vomit and screaming.  Screaming while holding her head and rocking back and forth on the floor, all while vomiting. This is what happens when heat and humidity raise the pressure levels in her head.  It's so difficult to watch...I can't touch her, she's sound/light sensitive during these episodes.  I can only sit nearby and whisper soothingly to her to let her know that I am there.  She lets me know she needs me to stay right there.  Quietly, patiently just be there.  It's horrific to watch.  I tend to sit and cry with her as there is nothing else I can do.

We hide during the summer, in our house with curtains drawn and air conditioners running in hopes of avoiding the trauma.  Sometimes it works and sometimes it doesn't.  An adult with Hydrocephalus described to me what it felt like to have this happen to him,  imagine your worst possible migraine (I suffer from migraines so this was not hard to imagine) and add some extra vice grips to it....UGH!  I have other words for it but I won't pepper the blog with my foul mouth.

I'm focusing on Madilyn's Hydrocephalus because September is Hydrocephalus Awareness Month!  We are the blue that gets lost in the gold in awareness raising in September.  Don't get me wrong, I'm all for the gold awareness, I just wish there was a little more blue!  Neither one has enough funds for research and neither one has made any advancements in treatment.  The whole thing is sad and scary especially for me because Madilyn has chromosome abnormalities that put her at 3 times higher risk for pediatric cancer ( I won't even go into that fear).........

On top of the Hydrocephalus daily dealings we were inpatient for 4 days in June for her sugar testing which did lead to answers but not easily.  Madilyn has severe hypoglycemia and is not on continuous feeds into her intestines because her stomach does not tolerate them.  We do constant sugar monitoring and all new protocol has to be put into place for any procedures she has done as she cannot be without her continuous feed or D10 IV fluid without causing life threatening issues. We are adjusting to it, it's our new normal.  Thankfully my parents bought her the cutest little Minnie Mouse backpack for her feeding pump so it's functional and adorable and of course it's pink.  We also started wearing foot braces to help with support for hopeful walking, her wheelchair (also pink) will be here in the next few weeks, her theratogs (leg wraps) are in and we pick up her hearing aid (also pink...haha) in a few weeks at our appointments in Milwaukee. We also have to see Cardiology for the first time since the NICU for a complete exam and some tests.  Madilyn's heart rate likes to be full speed ahead and her heart is enlarged so we just need to make sure everything is okay.  Life has been crazy like I said but if she can do it and smile every day so can I.  The new pink shoes help too...after all, life is all about the little pink shoes..:)

The picture is from Madilyn's first shunt revision in March 2014.  The second picture is because she is just too cute for words in spite of everything she goes through.

Learning to Love the "I don't know"

As many of you know our life with a medically complex/fragile child is filled to the brim with "I don't know".  This "I don't know" life was again the only answer we received with results from our recent sleep study.  The ENT doctor called me on Friday and I was so hoping for an actual answer to her snoring and possible sleep apnea but all I got was "I don't know".  For ENT purposes the study was inconclusive.  She said it showed one episode of obstructive sleep apnea and that Madilyn does enter all stages of sleep but during the study most were too brief to really tell her anything that she needed to know.  She went on to explain how some people think that tonsil and adenoid removal is considered routine thanks to most insurance regulations but with Madilyn it would be anything but.  The risks are way to high for her to remove them without conclusive evidence that it will help her.  We would be there for weeks due to the risk of hemorrhage and the fact that we live so far away.  The risk of the surgery shutting down her GI tract is way to high as is the risk of it causing a critical sugar crash that could leave her comatose or in organ failure.  The "I don't know" options given are a steroid nasal spray to see if that helps and if after a month there is no improvement we will be referred to the sleep clinic doctors and put through a boat load more testing to see if they can figure anything out.  The positives are other than that one episode her oxygen levels remained steady and good throughout our night of little sleep.  I can live with that.

I got stuck on the "I don't know" for about 2.3 seconds.  Then I came to the quick reality of "I don't know" is okay.  It's better than the definitive negative answers we could have received.  I don't know exactly where in this journey "I don't know" became so acceptable,but it has and here's why.  We started out with "you will never go home with a baby, she's so little, so sick and has so many genetic issues she'll never survive".....that turned into "she'll be lucky to live to 8 months old"....and when we gained custody of her at 11 months old it turned into "if she's alive in 3 months call and schedule another appointment".  I have become oddly familiar with life flights crews and oddly comfortable screaming at doctor's to stop writing my child off because of what her diagnosis looks like on paper.  I have become so in tune with my "mommy instincts" that doctor's no longer question when I am telling them something is wrong, they just trust me and try to figure it out.  I have screamed at an ER doctor to do something because my child was dying in my arms in the only place that could save her life.  

I have been looked at and whispered about among doctor's and therapists when they questioned if Madilyn knew her name or knew who I was... Madilyn proved them wrong.  I have been told countless times "that's impossible, she shouldn't be alive much less able to do that"...it's okay, because I don't know how she does it either but she does.

It's actually kind of crazy to hear that your child has defied all odds and hundreds of years of genetic research just by being alive.  They are thrilled and amazed that she's actually thriving.  Endochrine was so thrilled at this last appointment with her growth.  The doctor said "I don't know how you did it but she's growing....it's amazing".  We hear quite often "I don't know how you do it"..my response is "I don't know how we couldn't".  Madilyn had my heart from the moment my daughter said she was pregnant.  When we found out that she had a severe case of Dandy-Walker Syndrome the prognosis was not good.  My family can vouch for the fact that I completely trusted my gut when I defied doctor's by preparing to take her home when they said she never would, they all thought I was crazy.  It's funny now, three and half years later because my response was "I don't know....how to make you understand what I feel but she'll come home".....that infamous and recurring "I don't know"..

Someone asked the other day about life expectancy for Madilyn and if she's "getting better".  I don't know how a child with multiple genetic rare diseases ever gets "better", there's never ending risk in our life, there's always something going on with her but I told her " I don't know, but she's here and she's happy and we'll take it".  We live every single day in the moment because we know that it can change in the blink of an eye.  We take nothing for granted.

Madilyn is an absolute blessing in our lives.  She has taught me more in her short life than I ever could have imagined, and for that I am thankful.  I've had countless doctors and therapists ask how we do it and my typical response is that "we just love her".  I'm not super mom and I have zero super powers, I'm not special, I'm just a mom that loves her child unconditionally.

On our recent trip to Milwaukee for appointments our GI doctor very sadly told us he's moving to Texas to be closer to his family.  Madilyn was his very first official patient out of med school.  We love him and have a boat load of gratitude for him for trusting us, listening to us and not being afraid to think outside the box when it came to Madilyn's care, we wish him well but are very sad to see him go.  Right at the end of our appointment he was holding Madilyn playing with her.  It was in this moment that I received the hugest compliment I think I will ever receive in my life.  He was looking at her with the biggest smile and you could tell he took pride in all that he has done for us.  He said that someday he will see us again when Madilyn is famous and advocating for other children like her, he said that he has all the confidence in the world that she will do great things with her life.  He thanked me for letting him share in our life and trusting him to be her doctor....He then looked at me and said "I don't know how you did it but you have loved her to absolute perfection".......this moment taught me to love the "I don't know"...

When life hands you lemons...

We're making lemonade folks!!  Lots and lots of lemonade!  What else can you do when life hands you a boat load of lemons?  It's either lemonade or get out the tequila!

It's been a really long winter in our house as usual.  Several rounds of croup, one round of pneumonia, feeding struggles, sugar issues (one landed us inpatient again) and 5 months of failed surgery clearance.....so goes life in our house.

There's so much going on I'm not sure where to start.  Ear infections, fluid build up and hearing loss is first.  We started with chronic ear infections last fall which led to numerous surgery clearance failures so we saw ENT in March.  Madilyn showed significant hearing loss and massive fluid build up.  Tubes are set to go into her ears on May 18th along with a sedated hearing test (ABR) to determine if the hearing loss is permanent or will be remedied when the fluid is drained.  We have our fingers and toes and everything else possible crossed that the tubes will "fix it".  They are going to do her eye exam under anesthesia at the same time with possible scleral buckle.  We haven't noticed anything off with her vision so we are again hopeful that the fluid pocket has remained stable and her vision will be safe.

On our recent trip to Milwuakee Children's Hospital we had a cluster of appointments (as usual) and we'll start with the good news.  GI and Endochrine are super thrilled with Madilyn's growth!!  She has grown 4 inches and gained 4 pounds in about 10 months!  Endochrine said if she keeps growing at the rate she is she will "catch up" in the next 18 months.  That's HUGE!  They didn't know if she'd ever grow so this news made me very happy.  Endochrine is not so happy with her sugar issues.  They've been very significant since November and we do glucose monitoring at home.  If the sugar crashes continue then we will have to be inpatient for a controlled critical sugar crash so they can do testing to try and figure out why it does it.  Multiple times now Madilyn's sugar has crashed to organ failure and comatose ranges with her showing no outward signs of an issue.  I won't lie...it's terrifying to hear that if I put her to bed she never would've woken up.  I'll never get used to those words no matter how often we hear them.  I'm super in sync with my mommy gut and always trust it.

Now for the lemons....we saw Ortho for our yearly check up.  They follow Madilyn due to her Hypotonia.  Hypotonia is a state of low muscle tone (the amount of tension or resistance to stretch in a muscle) often involving reduced muscle strength.  Madilyn was born with this and it causes her to be "abnormally flexible".  Well while the massive growth spurt has it's upside it has a huge downside too..... due to the growth spurt and the hypotonia Madilyn has developed Kyphoscoliosis.  She has the s shaped curve of scoliosis in her lower spine and the hunchback curve of the kyphosis in upper spine.  This can cause heart and lung issues as well as pulmonary hypertension (high blood pressure) as the curves combat each other and compress (crush) her heart and lungs.  They are significant curves and her Ortho specialist wants her in a corrective wheelchair for multiple hours per day.  No more high chairs, normal seats, strollers, shopping carts etc.  They do not provide the appropriate support for her back.  The problem is insurance and the amount of time it takes to get a custom built wheelchair.  Realistically we are looking at 6 months to a year.  We have to see Ortho again in September and if he does not see improvement she will be fitted for a custom back brace that will go from her hips up over her shoulders (it causes her hips to be out of place also).  We will quickly work our way from 10 minutes multiple times per day up to 23 hours per day in the brace and she would wear it for 2 years or more if necessary.  If the brace and wheelchair do not help they would insert a metal rod into her spine and she would have surgery every few months to adjust the rod and this is how she would "grow".  Some children with kyphoscoliosis end up on oxygen also due to the compression of the heart/lungs.  We are hopeful that it won't go this far since it has been caught now.  I did extensive research and ordered a "chair" yesterday that will hopefully help until we can get the wheelchair.

The hardest part of the diagnosis is hearing that if we end up going the brace route in September Madilyn will lose all of the mobility we have fought so hard for.  The brace is very restrictive with movement and she will have to relearn absolutely everything.  She/we can do it, it's just extremely devastating to hear that we very well may end up there.

More lemons....Madilyn snores incredibly loud about 80% of the time, the other 20% it's very difficult to tell if she's even breathing.  I brought this to the attention of our ENT doctor at our appointment in March and really felt like she blew it off.  When we returned home from that trip I made a video of her snoring and sent it to our care coordination team to get their input.  They were very concerned and forwarded it to the doctor.  She called me last Friday morning herself apologizing up and down for not listening to my concerns and said Madilyn's video was alarming to her as she clearly stopped breathing in the video.  While in Milwaukee they scheduled an emergency sleep study because "Madilyn's way too medically complex to assume anything" now we wait for an eternity.  Actually only 7 to 10 days but it feels like an eternity to find out the results.  If it's tonsils and adenoids they will remove them when she has surgery on May 18th, if it's something else we'll deal with it once we know.  I'm really not able to let my mind go into the unknown because it just causes too much stress and isn't realistic at all.

Everything with Madilyn is an unknown.  With her Complex X-chromosome abnormality she is one of a kind in the world and according to hundreds of years of genetic research she should not even be alive.  They have no idea what to expect and are shocked and thrilled with all of the things she does, as are we.  We live in the moment and deal with things one at a time...we learn to breathe all over again daily with the obstacles that her life throws at us.

Our future is unknown and sometimes quite scary but if Madilyn can keep smiling and thriving and being as happy as she is we'll continue to be thankful for every second that we get...good and bad...please keep us in your prayers for "fixable" sleep study results and that her upcoming surgery goes well as she will be under anesthesia for quite a while to have so many procedures done at once

And when you come to our lemonade stand be sure to wear a smile and little pink shoes..:)

Madilyn's Medical, Travel, and Equipment Fund

up and down....over and over again

So I thought in 2013 when we heard a few times that we almost lost our sweet Peanugga that we would never have to hear that again.  That we had things under control.  Boy was I wrong!  2014 was full of huge developmental progress and growth and yet we still heard 4 times that "she probably would not have woken up".  Those words are devastating even more so because it is solely my mommy instincts that prevented it.  Sometimes there is no clear indication that something is wrong. It's just off and my gut gets this horrible feeling that something is really wrong.  Thankfully all of our doctors listen to me and we've come through it okay.

The shunt revisions are horrible.  Knowing that they are digging around in her brain is incredibly hard for me as one little slip could change our lives so quickly.  Sugar issues are even worse. We had a scare in November, I thought it was just a coiled feeding tube as she wasn't tolerating feeds.  We contacted Milwaukee and decided that we didn't need a med flight (we had already had 3 of them in 6 months) but that we would immediately head to Children's Hospital and would be a direct admit through the emergency department.  Madilyn was starting to dehydrate and was tolerating zero fluids through her feeding tube ports but was otherwise acting completely fine.  Imagine my surprise when they got her IV going in the ER and then checked her blood sugar and it was only 32.  For those that know nothing about sugar levels 32 is organ failure and coma range.  The nurse couldn't even contain her surprise as she frantically ran from our room in a panic.  They said that Madilyn should have been completely lethargic and difficult to wake up (if she woke up at all) but not our little pistol.  We had to mummy wrap her in a sheet and 3 of us had to hold her down to get her IV going.  This causes HUGE concerns because once again she doesn't display any typical symptoms when there is a problem.  During this 4 day stay we had to hear those dreaded words "for reasons unknown to us"...I get so tired of those words.  They determined that Madilyn's entire GI tract just randomly stops working and they have no idea why.  They've done scopes and blood work and meds repeatedly and there are no answers.  Our teams of doctors are fabulous and you can tell it bothers them just as much to say it as it does for us to hear it...I can't even begin to adequately explain the way it makes me feel.

Since we came home in mid November things have been very difficult.  Madilyn was supposed to have her routine eye exam under anesthesia in mid December and the doctor let us reschedule it until right after Christmas, this was a good thing as she ended up with round 1 of the croup and was on steroids and they wouldn't do anesthesia.  Five days prior to the rescheduled trip she ended up with the croup again and this time it turned into pneumonia and we spent our very first overnight stay at our local hospital for observation for her breathing issues.  The pneumonia/'croup diagnosis puts anesthesia off for 4 to 6 weeks due to airway narrowing.  We were scheduled to go again in early February and once again failed the surgical clearance physical.  Both of Madilyn's ears were infected again (5th or 6th time in 6 months) and her lungs were not yet clear, so we wait....another 6 weeks.  We attempt again in March to pass the surgical clearance and pray, pray, pray that the fluid pocket on her right eye remains stable.  In the meantime the ear infections have earned us another specialty to add to our list.  We now have to see ENT for possible tubes when we go for our big cluster of appointments in mid April.  Six appointments in  3 days plus x-rays makes for a very long week, especially since the Peanugga and I travel alone for those extended routine trips.

I always had the idea in my head that the older she got the easier this would be and I realize now that is not really the case.  In some aspects it is easier, she is able to play with her toys and is mobile and is learning to talk so it helps.  On the other hand it brings new struggles, she is mobile but is unable to walk on her own yet doesn't want to be held or carried so a simple thing like running into the bank or post office requires dragging a stroller everywhere because otherwise it's world war 3 as the Peanugga thinks it's perfectly acceptable to roll around the nasty floor wherever she chooses.  The talking also brings about issues, she has words but not quite enough to express herself all the time which tends to lead to angry lashing out.  She will grab at my face and arms and pinch or gouge at me (or whomever is closest) when she has no other way to communicate and is frustrated or overwhelmed.   When we end up in seclusion when she is sick the progress we have made with transitioning in public comes completely undone.  For example:  Walmart used to be one of Madilyn's favorite places (even though I hate it..) and after not being anywhere we spent the entire first trip with her in tears and puking.  We took her there three times last week just to have her out somewhere....I really need to find some better places to hang out..

We have now entered the world of sensory brushing and joint compression and are waiting (since November) for theratogs for Madilyn's legs.  All of these things will hopefully help when she's on sensory overload or to somewhat avoid the overload to start with.  I'm to the point that I'll try just about anything to attempt to make her life a little easier, for both of us.

We've had so much going on the last few months that I have not been keeping up with the blog.  Sometimes I find things extremely difficult to process and I'm not sure how to share it without sounding completely negative, and I don't like negative as it gets us nowhere in life.  So I will just share....the good, bad, up, down, ugly and amazing.  I actually am beginning to thing that part of the problem is there is not enough pink in her purple/pink tennis shoes...maybe it's time for new pink shoes....because life is all about the little pink shoes..

Firsts, Seconds and Fears

We're in Milwaukee again.  Seven appointments in three days.  That's nothing new but staying at the Ronald McDonald House across the street from the hospital is.  This place is incredible.  It was so odd to come down here and not have to wonder where I was going to eat or what kind of construction was I going to have to deal with to get anywhere.  It was also really odd to sit down to dinner in an entire huge room full of people just like me.  Worried mom's, dad's and grandparents.  Some were like me and had their child with them and other's are inpatient across the street.  It felt really strange to be in a room full of me's.  Quite often on our special needs/rare disease journey we tend to feel quite alone, but not today, today was a first.

Seconds...this is only the second time I have traveled to Milwaukee alone for appointments with Madilyn.  It's too many days for anyone else to take off to accompany us, so we're flying solo this time.  Thank goodness for portable DVD players, Mickey  Mouse and Sophia the First, they make for a very cooperative toddler on the long car rides.

Fears...let's be real for a moment, I am full of fears when it comes to Madilyn and only for a brief second am I going to acknowledge them. One month ago Madilyn had her second shunt revision in six months.  I understand shunts malfunction, they are equipment after all, it just terrifies me.  It terrifies me even more when the neurosurgeon goes into your child's brain to fix the shunt and comes out saying "I hope that works cause I feel like we're missing something, things don't seem to add up".  He had expressed concern with the first revision that her symptoms were not true shunt malfunction symptoms, they were brain stem related symptoms but she bounced right back after surgery and we had zero issues for six months.  Then she didn't want to wake up, and when I finally got her to wake up the vomit started, the violent kind that leaves her almost non responsive for moments afterwards.  The eyes, they no longer flutter from side to side when she's tired, they bounce in  total opposite directions and tend to cross, it makes me hyperventilate.  The balance that she fights so hard for just isn't there.  I can't explain the feelings that come along with these episodes.  It's pure adrenaline and prayer.  Prayers that we make it in time, prayers that nothing happens on the flight, prayers that it will be "fixed" and that she'll bounce back quickly to her normal, happy self.

It took a few days this time, that did not go unnoticed by any of the neurosurgeons.  I have since discovered that it may be her Posterior Fossa Cyst (her Dandy-Walker cyst) that may be the problem and not the shunted area of her brain.  The Posterior Fossa Cyst is a fluid filled pouch that is where the cerebellum area of Madilyn's brain is supposed to be.  I vividly recall the nurse from Special Needs pointing out the fact that the Posterior Fossa Cyst was smaller on the MRI than it was 6 months ago.  It's time for me to address this with our neurosurgeon and see what he feels.  I know of two little girls that passed away because of the Dandy-Walker cyst and sudden pressure changes in it and I know of one other that had to have it decompressed because of the issues it was causing.  This terrifies me.  Nobody ever said that this could happen, it's never been talked about and when I learned about it (from other mom's) I felt like I had been sucker punched.  Of course, neurosurgery is our 7th and final appointment late Wednesday afternoon so I have lots of time to make my lists of questions for him, and lots of time to pray.

I'll update after all of her appointments are over, all I know for sure at this moment is that Madilyn is snoring very loudly next to me and it makes me giggle.  I also know that after her appointments tomorrow we are coming back here to find Nugget the dog, the house mascot and therapy dog.  I think we needs some pictures with him and quite possibly some new little pink shoes.

Some truth for you....(and me)...

I'd be a liar if I didn't say I'm tired...summer was not what I had hoped for and I feel like I blinked my eyes and it's fall and we're sick again.  We got to enjoy one day...yes, I said one day at the beach this summer where we got to swim and enjoy family and one other day that we got to enjoy a picnic on the beach at a friend's camp.  That was our summer.  Madilyn doesn't tolerate the heat well so when it's above 75 degrees we are in the air conditioned house and as soon as it cools off we start enjoying daily walks and she ends up sick right away.  Sick for us means breathing treatments every 4 hours with 3 different meds, steroids that have her bouncing off the walls, antibiotics that cause a whole other round of intestinal issues and puke...oh the puke...which leads to weight loss...it's a vicious circle and I'm tired...

We went to Milwaukee in July for appointments that went really well and almost exactly a month later we were air lifted to Milwaukee because Madilyn's feeding tube coiled from her intestines back up into her stomach which ended up making her really sick really quick.  Feeding tolerance had not been achieved yet and now she's sick.  Sometimes it feels like we'll never make feeding progress.  It's the one mountain that I feel like we'll never climb successfully.  Yet we keep trying, over and over and over....maybe someday we'll get there...at least I hope...I always have hope.

A life of seclusion is difficult, I feel like people sometimes forget about us.  I understand why though.  Why would my friends keep inviting me out when I never get to show up.  I miss working, but that's not practical either with our special needs/medically complex life.  My son had to get himself to college 10 hours away from home because our emergency med flight and inpatient stay made it impossible for us to get him there, physically and financially.  My car needs new tires and the exhaust repaired and I have no clue where we will pull the money from.  We have two trips coming up to Milwaukee in the end of September and again two weeks later.  We need a specific weather cover for the stroller so we can be outside and Madilyn can be protected.........if it's not one thing it's another and there's never enough money or me to go around....but we'll figure it out, we always do.

The doctor recommended that I purchase/make signs to attach to the stroller/shopping cart etc..they are a stop sign and then a medical alert is printed on them clearly stating that we are a medically fragile child and please don't touch us.....like we don't feel secluded and alone enough now we're going to put a big red stop sign on us?  I can't even begin to explain how this makes me feel....while I don't want people touching her and getting in her face I honestly don't know how I feel about the stop sign approach either.

I'm done whining...I'll have my good cry cause I'm exhausted and we'll move on and figure it out.  That's what we do.  We choose to focus on the positive, we have to....this virus has not landed us inpatient, we are able to be home....that's positive....and thanks to the drastic change in weather the little pink boots have been ordered.....cause our life is all about the little pink shoes..

We see what we want to see

We've been quiet for a while...my son graduated from high school and we've moved to a single story home..it was a crazy chaotic few months.  This past month we've just enjoyed being settled and we've been to Milwaukee for 5 days for medical appointments (again). Madilyn's appointments went great.  GI is thrilled with her growth since they upped her calories.  It was the first time in 11 months that we finally had to increase her calories so she'd gain weight.  She's just over 23 lbs now and almost 3 years old.  The retina specialist was very happy too.  The fluid pocket on her right eye is still there but it's very stable at this point and is not in a vision threatening position so that's a relief!  It also means they don't have to put her under anesthesia again until December to look at it.

We're enjoying our new home and the Peanugga is learning to navigate her gait trainer outside in the grass.  It's fun to watch her...she so LOVES it!  She has learned that the road in front of our house has a very slight hill and she'll walk/run super quick for about 5 steps and then hang on her gait trainer and coast just like papa does when he's pushing her in the shopping cart.  She giggles like crazy when she does it.  She sure is smart.

With all of our accomplishments have come challenges.  Madilyn is sleeping in her very own bedroom since moving and that's going really well.  I now sleep with the video monitor...:)  When it's warm outside as much as we love to be out there she still doesn't deal well at all with the heat.  The combination of allergies and just her reactions to the warm temperatures usually mean tons of fun while playing and lots of vomit, sometimes for several hours after we've been outside....nobody can tell us why...(imagine that), it's just what she does....it's frustrating.  Everything we do seems to have a trade off or consequence...we just have to weigh heavily if the consequence is worth it and how much stress it'll put on Madillyn's little body.  Is it worth it to spend the entire day outside with family and having fun for her to be vomiting and exhausted for hours after?  Sometimes it is....sometimes it isn't...it's all a huge juggling act....I'm terrified to drop the wrong ball...

Madilyn has been making huge progress with her speech and motor skills.  She's pulling to stand on all of our furniture and she's an extremely busy 2 year old that doesn't hesitate to tell us no.  So just when we're starting to feel like the worst of everything is maybe behind us we deal with the news that two little Dandy-Walker sweehthearts have earned their angel wings over the past 5 weeks because of this rare, nasty disease....and it makes my heart break...one of the families we followed in a group we belong to.  Both of our girls had their shunt issues at the same time....my heart breaks for them.....that could be us...I try not to let my mind go there...it terrifies me...

Then to add to it we get the phone call....the dreaded phone call stating that a medical department closer to our home won't even see Madilyn because she's way too medically complex and fragile.  She scares them, they refuse.  It makes me want to scream!  Madilyn has multiple medical diagnosis and they are all rare...one of them so rare that she's the only one in the world....she shouldn't be alive they tell us, she shouldn't be able to do anything they tell us............but she is and she does....I want them to see what we see.  I want them to meet her before they shun her and see what a happy, beautiful little girl she is.  They have never met her, they think that she's a vegetable because on paper that's what they say she should be.........I hate "they"...I hate that she's stereotyped and shunned and she's not even 3.....the ones that take the time to know us love her.  She's an inspiration, not something to be feared.  She's a sweet, adorable, loving little person....not just a medical anomaly...and something to be gawked at.....she's so much more than just their statistic, but they don't take the time to see that.......it makes me incredibly angry and sad all at the same time.....

"They" can see what they want....and I will see what I want...we live it every single day...it is our reality...we choose to live for the positive and focus on the good things otherwise the negative will suck us in and that's a place we don't want to be.  We also choose to celebrate....the little pink crocs.....cause it's all about the little pink shoes...:)

Glimpses, glances and hopes

So I've been quiet for a little bit and it's because I've been struggling.  We were placed on a new medication to help the Peanugga tolerate tummy (G) feeds better in hopes of less vomit and progress and it has been great.  Too bad in the middle of it when we caught that first hopeful glimpse of coming off the J feeds she ended up throwing up while sleeping which startled her and she gasped right in the middle of it which resulted in our first encounter with aspiration pneumonia.  When you hear "aspiration" anything it results in this unbelievable fear that our feeding issues may multiply.  We've had therapists and doctor's in the past question how we've never dealt with this before with the massive amounts of vomit we have dealt with and all the major GERD/reflux issues.  I'm not sure how we haven't but I'm very thankful that we didn't and I'm praying really hard that it was a total fluke one time incident.  After the pneumonia we had a few really good days and got out to enjoy some nice weather and she ended up sick again.....allergies? maybe?  The runny nose, coughing and congestion has made us stop all tummy feeds for an entire week because they all result in vomit.  The vomit causes horrible stress for me...it causes weight worries, aspiration worries....It also causes me heartache and fear....for the first time in well over a year I finally caught a glimpse of what it would be like to have all tummy feeds and no more night feeds and it seems as quickly as I finally acknowledged that hope the whole thing blew up in my face.  I can't even put into words how that makes me feel and add to it that we finally had her taking some foods by mouth and all of that stops too when the vomit starts....one step forward two steps back.....:(

On top of all of the "normal" Peanugga stuff in our lives we are getting ready for my son to graduate tomorrow.  I never in a million years thought I'd be the boohoo mama but apparently that is exactly what I have turned in to.  I am so incredibly proud of him and the young man he has turned out to be.  He has had to grow up way too fast with all the unexpected events in our lives.  It seems like if I blink my eyes it was just yesterday that it was him I was watching play on the floor and now he's all grown up.  He is amazing to watch with Madilyn.  I think her Uncle Thomas is her favorite person ever....they have a bond that I can't explain but when you see him with her it makes you tear up.  Thankfully we have lots of family help with Madilyn so his graduation can be all about him.

There have been way too many times in the past two and a half years that my children and husband have voluntarily taken a backseat on my priority list in order for me to take care of Madilyn. They have never complained and for that I am thankful but it does not ease my own self-inflicted guilt that at times with all the travel and extended stays in Milwaukee that I feel my children are growing up without a mother.  I am very thankful to all of their friends mother's that have stepped in as surrogates and cheered them on at their sporting events when I could not be there and have opened their hearts and homes to my children where they could escape and just be normal for a little while.  Without you other mom's and dad's that have done this for my children they wouldn't be a wonderful as they are and you deserve that acknowledgement and my gratitude.  I do find lately though that along with that gratitude comes some feeling of jealousy for all of the things that I have missed out on with them in my place.

I think it's time for me to invest in some pink shoes of my own for walking.....and to hold on to my hopes and dreams no matter how many road blocks and detours may be in the way.....after all, it's all about the pink shoes...

Blessings and changes

The last few months have been crazy for us.  All of the time stuck at home between snow storms, freezing cold temperatures and health issues has made us a little shack happy.  We've been to Milwaukee for appointments 5 times already since the end of January.  This last trip was a girls trip.  Madilyn and I brought my 12 year old daughter Shyanne with us so she could experience Children's Hospital and all of the things Madilyn goes through at her appointments.

After 8.5 hours of nonstop running from one appointment to another and all the poking and prodding Shyanne was as tired as us.  We started our day with GI which is always great cause our GI doc loves Madilyn and the fact that she's gained so much weight.  He is actually a little worried that she's still gaining too fast.  Sometimes I feel like we can't win, too slow...too fast...where's the happy medium???

We've been having some issues with the g-tube (direct to her stomach) feeds that end up with vomiting episodes so GI has started her on a new medication that will hopefully help with that.  Today was day #1 and we made it through all 3 g feeds with no vomiting or gagging so I am hopeful.

Next up was Endochrine and they monitor her growth really close.  Her regular doctor was on vacation so we saw another one and when he saw her he said she needs growth hormones..NOW...I politely explained that she's been through enough and as long as she's proportionate she's fine, we're not injecting her daily just so she can be someone else's version of "normal"...she's been through enough and that is a battle we are choosing not to fight right now or probably ever.  After Endochrine we went to the scoliosis clinic for the ortho doctor to see her for the first time.  Madilyn had a very "functional shift" to one side due to vision issues for a very long time and with her hypotonia (low tone) they just like to see them to make sure everything is the way it should be and thankfully it is!

We then went to Interventional Radiology and finally got the feeding tube switched from a 12 inch long peg to a cute little glow in the dark button!  They had to sedate her for this which was okay because she had a quick brain MRI right after it to check out her new shunt catheter.  Both of these appointments went great and the neurosurgeon is very happy with the way her shunt is functioning so the day was a huge success in my book!

We're settling into our normal again after the shunt scare and are looking forward to hopefully staying home until July now.  Her emergency shunt surgery eliminated one May appointment and when she had her eyes examined under anesthesia on March 21st the fluid pocket had improved so he is seeing her again in July instead of May.  Hooray for an unexpected little break!

Madilyn's busy busy and never stops moving or chattering which is such a blessing for us.  She also had her very first round of professional pictures today!  I'll be sure to post one or two when we get them back.  Pictures are not something we've ever been able to do as Madilyn does not cooperate and definitely runs the show.  Thankfully the photographer (my friend Krista) had a ton of patience and it paid off!

Thankfully the snow is melting and we're finally seeing signs of Spring.  I can't wait to be able to be outside with Madilyn in her gait trainer and watch her explore and be able to run around with other kids.....especially since we have new little pink tennis shoes...again...we love shoes.....it's all about the shoes!!

Med flights and shunt malfunctions

We've been having some "issues" since early February, up until this past Saturday morning they were all chalked up to "it must be a virus".  I absolutely positively despise those words.  Those are a doctor's polite way of saying I have absolutely no clue what is wrong.  Madilyn was fine on Friday morning and then she went down for her nap...when she woke up her eyes didn't look right.  They tend to flutter when she's tired but they appeared to be little slits and when they were open her eyes were darting in completely opposite directions.  I watched her closely for quite a while and then noticed she went completely cross-eyed...this NEVER happens and is a huge flag for a shunt malfunction.  I also noticed her balance that we've worked so hard for was not there so I called Special Needs in Milwaukee and talked to them and brought her to our local emergency room.

It's difficult to explain the panic I felt bringing her there.  One moment she appeared fine and the next everything was haywire.  Thank god the local doctor that was on duty that evening knows me and Madilyn and knew something wasn't right.  Med flight was arranged to bring us to Milwaukee and by 1:30 am we were on our way.  This is the second time we had to med flight to Milwaukee and it scares the daylights out of me, Madilyn however, loves the plane ride...the ride doesn't bother me either it's just the circumstances surrounding it that tend to drive me crazy with worry and panic.

When we arrived at Children's Hospital emergency room the chaos ensued when the first ER doc acted like I was a little crazy....I do realize they deal with people every day that insist there's something wrong with their child when there really isn't, this however wasn't our case and I was adamant.  They went over her labs from our local hospital, multiple doctors came and looked at Madilyn and talked to me and they finally sent us for shunt series x-rays.  The doctor came in a little while later and said the shunt series showed absolutely no problem with it.  I freaked out!  At this point Madilyn had a constant tic on her left side and was unable to sit much less to anything else, she was struggling just to pick her head up and could barely open her eyes and the whole time she kept letting out with this horrid gut wrenching painful screech.  I totally flipped on that doctor and demanded they do something because something was seriously wrong and for the third time in a year I could feel her slipping away from me.

He agreed to send us for a CT scan to check the shunt and within 35 minutes of heading to the scan we were heading to emergency surgery.  The catheter part of her shunt that goes into the ventricle and does the draining had come out and the pressure on her brain was building quickly.  Surgery last an hour and a half and thankfully all of her symptoms were gone afterwards.  It amazes me that they can open up their head and repair something that goes into her brain and less than 24 hours later we were ready to come home.

We were informed by the neurosurgeon that all of the feeding "virus" issues that sent us to Milwaukee in mid-February and the sleep issues were probably all the shunt starting to malfunction.  My gut told me then that they missed something but it wasn't a feeling that made me panic like when she woke from her nap that day.  That day was the third time in 13 months that I was told that if I didn't trust my instincts and had just put her to bed she probably would've never woken up.  Those are the hardest words I have ever heard and hearing them once was awful but three times....CRAZY!!!

I don't focus on the "what could've happened" because I trusted my gut and it turned out for the best and if I focus on what could've happened I will miss out on way to much of the now.  It does put it into perspective just how precious every single moment is in our lives.  They don't give us life expectancy guesses with Madilyn because they don't know.  She could live for 70 years or 7...they've never seen her grouping of rare diseases and her complex X-chromosome abnormality they know nothing about so we choose to make long-term plans but we live in the now and are thankful for every single moment that we get.

As we are really wanting to just recuperate from this whole thing life must go on and we are packing to head to Milwaukee again for another eye exam under anesthesia to make sure the fluid pocket hasn't moved.  So for the next few days we will pray exceptionally hard for no changes, we will enjoy every moment and we will wear her new little pink shoes......cause that's what it's really about.....those little pink shoes.

Living with multiple rare diseases and the things nobody ever told me...

Today is Rare Disease Day and it's time to share more details of what it's like living with multiple rare diseases.  There are a lot of things nobody ever told us when we started this journey with Madilyn and they still don't say it...maybe because it's not politically correct or it's discouraging or because they just don't know what to say.  I'm going to take the liberty of saying it for them...

1.  Living with multiple rare diseases and special needs is lonely.....you feel very alone and in most cases you are.  In our case there is nobody else in the world that lives with the Complex X-chromosome abnormality that Madilyn has and her other diagnosis like the Dandy-Walker Syndrome, Turner's Syndrome Mosaic, her feeding disorder, hydrocephalus, hypotonia, and ROP (vision) are all rare....if it wasn't for the internet I wouldn't know anyone at all with her diagnosis.

2.  Rare disease pretty much equals no answers ever.  Madilyn has some of the top specialists in the world overseeing her medical needs and we rarely ever get answers.  I'm not sure, I don't know and let's try this and see what happens are the most common answers we hear.  Unbelievably frustrating and at the same time these answers become oddly acceptable because when there is no funding (or very minimal) for research how can we ever expect them to be able to answer our questions.  Everything is a giant game of chance, maybe it'll work, maybe it won't.

3.  You learn your own language.  Madilyn is starting to talk now but there are a lot of rare disease/special needs children that don't and her vocabulary is no where big enough to communicate some very key things.  I never really realized how Madilyn and I communicate because we do it every day so when my nephew was here a few weeks ago he was watching Madilyn and I together and he said "it's so cool to watch you two, it's like you have your own little language"........it made me smile cause yes we sure do..you have to in order to do what's best for your child.

4.  You will feel tremendous envy when your other family members and friends get to go on with their "normal" lives and yours is like planning a trip to Alaska just to make it to therapy and the grocery store in the same day.

5.  People will stare...oh boy do they stare when we go into a public place hooked up to the feeding pump and with her little glasses on....it's okay...let them stare, it doesn't hurt anything.

6.  People will talk....If I had a nickel for every time a stranger in Walmart feels the need to tell me my child looks so tired and needs a nap I'd be rich.  I usually just smile and say yes she is, because she is....but here's the real reason...Madilyn's muscles don't always work like ours do..with her hypotonia holding her head up and sitting are not simple like they are for us so when I have her in a shopping cart it's a ton of work for her to keep her head up constantly with no type of support behind her to help her out.  So yes, she's tired but not for the reasons people think.  I've actually found myself going into explanation if the same person has said this to me more than once because I feel the need to educate everyone in regards to Madilyn.  This often leaves me with people telling me how sorry they are, which leaves me more frustrated because sympathy is not what I am looking for.

7.  There is never enough money.  All the trips to see her doctor's and specialty items she needs are crazy expensive....I can't just sit her in a chair, she will fall out on her head, or jump out because she's constantly sensory seeking and has the highest pain tolerance ever.  I can't sit her on the floor and walk away...that's getting better but everything takes time....1000 times longer than with normal children.....and costs so much more.  It forces me to be creative out of necessity...I'll figure out a way to modify the $30 chair to suit our needs because I don't have the minimum of $300-over $1000 to purchase the ones that are made for children like her.

8.  Your rare disease/special needs child will teach you more patience, tolerance, compassion and creativity than you ever knew existed but at the end of the day we are still human.  I was up one night several weeks ago and found myself mentally giving kudos to the guy that had the courage to publish the book (for adults) called Go the F#@k to Sleep.  I actually giggled out loud as Madilyn is standing on my lap holding my hands squealing and flinging herself wildly back and forth with that constant sensory seeking need that drives her.  It was probably the lack of sleep that got to me but when I acknowledged at the moment that I totally and completely understood the book I read once years ago it made me feel normal.  It made me feel like we were normal....I never said it out loud and never thought I'd put that thought in print....but it was a totally liberating and humorous moment for a Nana that rarely ever gets to sleep.  It's funny how your thoughts change throughout time...up until recently I always said she can keep me up all night if she wants as long as she's here with us and thriving....well she's here and she's absolutely thriving and now I want her to learn to sleep...:)

9.  Your therapists and nurses will become your "friends" because your friends are too busy having their own life and don't understand yours.  I am learning that we tend to make people uncomfortable, in reality I would be uncomfortable watching us from the outside.  The reality is most days making it to a 5 minute shower is a huge accomplishment.  Our "normal" freaks people out....suction bags, feeding tubes and VP shunts and gait trainers are our normal.......it's okay if you're freaked out and I won't be offended if you tell me that.

10.  Find a friend, that lives a similar life to you, it will improve your life dramatically.  When you have another child that isn't "normal" and your kids can just be who they are and play it's awesome!  When you can sit and rattle off tests and other  medical/therapy terminology without having to give descriptions because they understand already what you're talking about makes you feel normal for a while.  You live the life and when you can find that one other person that truly understands it and isn't just feeling sorry for you it's amazing.  I found that, finally, 2 years into this life I found that.  I can't explain how liberating it is to be able to text someone and simply state...I want to scream....and they don't think you're crazy, they just get it.  For me this friend was the biggest missing chunk to our rare disease filled special needs life.  It's like the missing puzzle piece has been found and our girls are AMAZING to watch together...they are inspiring!

11.  My last one...I promise...bug everyone you know to raise awareness...if people don't know what you live with they will never understand it.  I don't expect them to understand it anyway but I hope it will make them a little more tolerant and compassionate towards others.

You can't always see rare disease on someone's face or in their external appearance at all so before you judge someone think twice because you never know what they are living with......

Blessings and meltdowns

We just returned from Milwaukee and our first round of good appointments for this year.  Madilyn has a fluid pocket on her right eye that could potentially detach her retina.  It was discovered in November during her eye exam under anesthesia.  Dr. Han (the retina specialist) feared it may detach in between appointments or that it would progress and he'd have to do another scleral buckle both outcomes could quite possibly leave her completely blind.  We were blessed and there was no change.  It is maintaining and we will return in March for another eye exam under anesthesia to monitor, as we do every two months.  We'll continue to pray that it doesn't change or that it goes away, in the mean time we count our blessings every single day that she wakes up and can see us.

We next saw her GI doctor and he couldn't be more pleased with how much she's growing and how much she has progressed and changed since her surgery in August.  We see him every three months but he was nice and let us slide a few extra weeks this time since she was gaining so well and didn't make us travel right before Christmas.  Once again we count our blessings.

Our trip was extremely emotional, like riding a roller coaster.  I don't know how to explain the emotions that come along with knowing your child is going into surgery with vision in only one eye and could potentially come out with none because they're trying to save it.  When Madilyn had the first scleral buckle done the scar tissue she produced afterwards did more damage, the bad almost outweighed the good.  We go into this now knowing that the scleral buckle may be our only hope each and every time she goes into that surgery so we pray.  Every single morning that she wakes up and I know she can still see me brings me to tears.....and again, I count my many blessings.

I also got to witness her GJ feeding tube change on this trip.  It is done in Intervention Radiology and is painless for Madilyn other than she gets mad cause I had to hold her still for two minutes while they did it.  We all know how much two year olds love to be held still...she was one angry little girl, thankfully it's super quick and the staff was awesome.  Once again I count my many blessings.

After the roller coaster ride we head home with happy reviews and run into horrible weather and the first leg of the trip that normally takes 2 hours takes 5.  The first part when we could have easily turned off was all right and of course when we should have stopped there was nowhere to go.  The stretch of nothingness seems never ending when you're going 5 mph trying to keep a toddler occupied while she's gagging herself every two seconds and throwing up because her throat is so irritated from the anesthesia the previous day.

It's after the weather clears when I admit to my husband how scared I was but everything is clear and we keep heading towards home.  At this point the toddler is finally sleeping peacefully after hours of Roli Poli Olli on the portable DVD player (if I never hear that again it's too soon...).  It's in this clear silent stretch somewhere between Crivitz and Iron Mountain that everything crashes in on me and the tears start.  Unstoppable tears of relief and frustration.  Relief she can still see, frustration cause the relief only lasts for a moment.  Tears of fear because the GI doctor wants us to start doing daytime bolus feeds again with Madilyn.  Bolus feeds for me bring back months and months of massive vomiting and our life revolving around a feeding/puking schedule.  At the same time I am hopeful that her stomach is healed enough to handle the feeds without the vomiting.

It's during this time that I am thankful that my husband is focused on driving or obliviously lost in his own whirlwind of emotions and just lets me cry, I don't want to talk, just cry.  This seems to have become somewhat of a ritual for me, one I feel I have no control over.  Either way when it's over and I'm done crying my tears of happiness, relief, anger and frustration I look into the face of that sweet little girl that calls me Nana and count my blessings.  I chuckle to myself at how far we've come because this is the first trip that she actually told the surgical prep nurse No...a very clear, very distinct no when she wanted to check her vitals.  She also yelled at the GI doctor until her told her he was only going to listen to her and she understood and stopped yelling and let him listen to her.

It's hard to explain the emotions that come along with Madilyn's reactions to walking through the skywalk at the hospital.  She knows where we are and she knows she'll get poked and prodded and doesn't hesitate to express her dislike of the whole situation.  The older she gets the harder it gets, at least when she was smaller she was oblivious......I thank god every single day for the progress we've made but at the same time question all the time why children like my Madilyn have to go through the things that they do.  She doesn't like them touching her, the whole experience is very upsetting to her and to us.  No matter how great the appointments are I come home feeling like I've been hit by a truck and so does Madilyn.  We always take the day after we get home off........off from therapies, off from visitors and just hang out in our jammies at home and play.  It is much needed down time that we don't get very often.

Just when I think the roller coaster has almost slowed to a stop it's time to call and schedule the next round of appointments....the last few times I've let Special Needs Care Coordination handle this for me but this time I did it myself...........so the coaster is set at a slow, straight, steady cruise for two months...where we'll be busy making progress at home and getting ready for the March, April and May appointments....but most of all we'll be busy counting our blessings.....

Wishes and Reality

I spent all of last year wishing and wishing for less trips in 2014.  I can't even begin to count how many times I've sat down and tried to figure out how to make less trips to Milwaukee.  The countless hours wishing and praying for less trips.  We had ten of them last year and more than half were anywhere from 4-5 days.  Oh how I wished for less trips.....................

Then we saw the retina specialist in November and he completely crashed that idea when he discovered the fluid pocket on Madilyn's right eye (the only eye she has any vision) and we went from seeing him every six months right back to every two.  I was crushed............

We also found out around that time that a hospital only two hours away vs the 7 we travel is capable of doing Madilyn's G/J feeding tube changes every 3 months and I got sooooo excited............and then they refused to see her because her medical history/diagnosis is so complex.........they're afraid of her.  So once again I was crushed..............

So I had my pity party (which lasted about 8 minutes) and reassessed the situation and made my wishes more compatible with my reality.  We traded the most beautiful, luxurious, spacious gas guzzling Tahoe for a comfy, fun to drive and fuel efficient car.......we ordered a portable DVD player to entertain the Peanugga on these trips so she can watch her favorite cartoons and listen to her music videos in the car and during the long days at the hospital during appointments..........and I altered my wishes.

Now I wish for good appointments instead of less.  I wish for the chance to go to the zoo and the aquarium while on these trips and to have at least one meal that doesn't come from a drive-thru, hospital cafeteria or mall food court on at least half of the upcoming trips.  I've come to  terms with the fact that no matter how "healthy" we get Madilyn and regardless of how much she is thriving all the risk factors are still there.  I've accepted that no matter what they will still want to physically see her in order to monitor her and in most departments they have no other option.  Neonatal Development has to see her twice per year to track her progress to assign or redirect therapies for her, Endochrine has to track her growth, GI has to monitor her growth and her feeding tube, Neurology has to monitor her shunt and her Dandy-Walker, the retina specialist has to continually see her in hopes of maintaining her vision, the ophthalmologist has to see her to moni.tor her glasses/vision needs and Genetics has to see her because she is one of a kind in the world so they have to monitor her because she wasn't even supposed to live with her chromosome lines much less thrive.  So we wish for good trips and happy specialists and for no life threatening illnesses this year.

In the past few months we've had never ending ear infections (at least it felt that way with 3 in a row)...c-diff and 2-year molars and through it all Madilyn has made huge progress...she went from being completely uncooperative at physical therapy to showing off.  She's taking steps and running everywhere in her walker which is awesome because we get her gait trainer (a walking aid) in two weeks and are very excited.  She's suddenly back to putting food and everything else in her mouth so it makes me hopeful that she will start to consume something orally instead of just through her feeding tube.  We are also nowhere near as dependent on the suction bag because her stomach is finally healing and that is amazing!!

I guess sometimes I forget how complex Madilyn is medically because we live it every single day.  We don't take anything at all for granted but at the same time it is our "normal".  My "job" is different therapy appointments 5 days a week, feeding tubes, shunt function and having fun with the sweetest little girl ever who has the most amazing belly laughs I have ever heard.  If you had to wait over 1 1/2 years to hear those laughs finally come out you would totally understand why they bring tears to my eyes every single time.......to me, it is the most beautiful sound ever.....

So we still wish and dream because without wishes and dreams life doesn't have meaning.........we just make sure those wishes aren't quite so unattainable..........and we will shop for new little pink tennis shoes because in reality it's all about the little pink shoes...........

I wonder....

I wonder about a lot of things.......
I wonder if each of you reading this knows how much you mean to me?
I wonder what life would be like without so much financial stress?
I wonder is Madilyn's ear infections are ever going to go away?
I wonder if she's ever going to sleep through the night again?
I wonder what I'll do when she goes to school? what type of school?
I wonder if Madilyn is ever going to go back to eating somewhat normally or if being tube fed will always be part of our/her life?
I wonder is she will be self-sufficient someday or will she always need a caretaker?
I wonder if our therapists realize that most weeks they are the only adult interaction I have other than my immediate family and the teller in the checkout line?
I wonder what people think of me reaching out for fundraising help so we can attempt to breathe?
I wonder if I'll ever be able to go to work again or if full-time caregiver is my life?
I wonder if people, even those closest to me, realize just how often I cry?
I wonder if others realize just how much my children inspire me to be a better person?
I wonder if we will have to move away in order for my husband to obtain a better paying/benefits providing job?
I wonder if she'll ever be potty trained?
I wonder what it would be like to go to the grocery store without a set budget and meals planned?
I wonder if people know how amazing my son and daughter are with Madilyn?
I wonder if my husband knows how much he means to me even though I don't always show it?
I wonder if people know how hard it is for me to ask for help?
I wonder how long Madilyn will continue to do her new little war cry in her sleep before she lets out the tiniest little toot and contentedly goes back to sleep?  Meanwhile, I'm awake watching her wondering why on earth she does that?
I wonder if people truly get as excited as I (we) do about the tiniest little accomplishments and milestones finally being met?
I wonder if her doctors/therapists know how overwhelming it is to know we have to add even more therapists?
I wonder if people realize how lonely and overwhelming our life can be at times?
I wonder if our new friend realizes how much it means to me to finally have someone in our lives that we have so much in common with?
I wonder most if people realize just how much I love my life even though it's a struggle?

Even with all of these concerns and wonders swimming in my head every single day I am learning not to dwell on them..........I am learning to live in the moment and for each tiny blessing that we have in our lives..........I am a work in progress, we all are.......I have learned to never, ever take anything for granted..not even the tiniest minuscule amount of progress or gesture of kindness.....

I guess my point of this whole blog is.....everyone has worries and concerns...we all have obstacles in our lives, some we share and some we don't....you never know what another person is going through..
So in the rush of our daily busy lives I ask that you :
1. smile at someone and say hello......it may be the only interaction they have
2. hold a door for someone or help carry someone's groceries
3. brush off the car next to you in the parking lot
4. attempt to do a random act of kindness every single day...........I speak from experience when I say it can change someone's life....:)

Things to be thankful for

Today we are thankful for the little giggles that fill our home with joy.  We are thankful that we are all healthy and happy.  We have a turkey in the oven and a roof over our heads.  We have children scattered everywhere and are feeling very blessed.

This past year has taught us so much about what we have to be thankful for.  It doesn't have to be the big things, there are little things every day that so many people overlook.  A year ago we were struggling with the Croup and Madilyn couldn't even hold her head up.  This year we are healthy and she's giggling, chattering and motoring all over in her walker and on the floor.

Our community has shown us more love and support than we know what to do with.  It's overwhelming at times.  The financial gifts, the toys and clothes for Madilyn all mean more to us than my words could ever say.  My sisters who have taken time from work to travel with me and sit in emergency rooms, to celebrate the little things and sometimes to just listen to me and let me cry, without them I don't know where I'd be.

My husband for always loving and supporting every crazy idea I have and every rant I go on.  My children for being so tolerant and accepting all the changes that life has brought us in the past year.  My parents and in-laws even though they are far away for always checking in with us and helping in any way they can.

Madilyn's teams (all 8 of them) of nurses and doctor's that take incredible care of her and us.  They are always willing to go out of their way to help us in any way they can.  To the nurses and teams of doctors on W-11 at Children's Hospital for being so amazing during two scary hospital stays this past year..(we love you but hopefully won't see you this next year...)

I am also incredibly thankful for each and every one of you that takes the time to read this blog.  For the moment in time that you take to share in our lives and to learn about the things we live with every single day.

We are thankful for old friends and new and for our therapists that have become like family to us.

Most of all I am thankful that the sun is shining, the Peanugga is smiling and we have little pink shoes...it's all about the shoes..:)

HAPPY THANKSGIVING!!!

Amazing and heartbreaking all in one trip

We just got back from trip #10 to see the Milwaukee docs yesterday.  I went into this round of appointments with complete apprehension about meeting the Renal Specialist.  We found out last month that Madilyn has deformed kidneys with two collecting duct systems.  The good news is that even though they have the deformity they are functioning fine and since she has never had a UTI or unexplained fever they are not concerned at all.  They told us that they only need to see her if she has more than three UTI's in one year or multiple unexplained fevers.  They also told us that typically if the extra collecting duct system was going to cause a problem it would've already done so.  I am thankful that it hasn't and they say it probably never will.

Madilyn was seen by Radiology for the first changing of her g/j tube.  She did very well with this as she had not yet woken up from the anesthesia from her eye exam so she didn't even know they did it!

Now for the eyes...Madilyn has Retinopathy of Prematurity (ROP) which has caused complete retinal detachment in her left eye leaving her blind when she was around 3 months old.  She had laser surgery while still in the NICU to try and correct it but it failed.  The retina in her right eye started to detach so they placed a Scleral Buckle around it when she was 4 months old in hopes it would not detach further. This worked great at the time and when she was 11 months old they snipped the Scleral Buckle so her eye could grow normally and she's done amazing since then.  Until this appointment...she once again has a fluid pocket behind the right eye.  Her doctor was very upset about it as there is absolutely nothing he can do to remove it without further impairing her vision.  He said "at this very moment it is not threatening her vision" but there is the very real possibility that we could get up one morning to discover that she is completely blind.

We were set to see him every six months for the eye exams but with this setback we are back to every two months.  In January when he sees her again there is the possibility of placing another Scleral Buckle depending on what he finds.  In the meantime, we pray.  We pray that she keeps her sight.  We pray that if she doesn't keep her sight that it is painless (I have no idea what it feels like to have a retina detach and it terrifies me that it will hurt her).  We pray...for understanding...for patience....for the unknown as our life is full of the unknown.

The one thing I know for sure is that Madilyn is happy and absolutely thriving with or without vision and she loves her new fuzzy pink slippers..

Therapy progress and setbacks

So everyone knows our whole life is about three steps forward and one step back.  Madilyn has earned herself a two week break from one of her physical therapists because she has been so uncooperative.  This was very upsetting to me personally but it has also taught me a valuable lesson.  Everyone needs a break sometimes to breathe and reset.  With Madilyn we are constantly pushing and encouraging and using every moment we can as a teaching moment.  She has therapists/home visitors 3 days every week and 5 days every other week, this is not including medical appointments.  I think her outright rebellion was her way of telling us enough already.

I took the break reluctantly and even eased off at home and just let a few days be lazy (for lack of a better word).  If she didn't want to put the blocks in the bucket or play at the music table I didn't make her.  I didn't make her do "just one more" before letting her scoot around the floor like she loves, and I didn't try sticking food in her face praying she would finally eat something every time she turned around.  This was a very difficult thing for me to do, but it paid off!!

She has suddenly, after six months of trying and encouraging, decided to go forward in her walker and when she hangs on to our fingers and pulls herself to standing she has started taking a few steps!!!  I can also put her in her highchair and put food on the tray and she's starting to put it in her mouth.  She is actually taking bites all on her own of the cheese puffs!!  I'm so excited.....she just wants to do it herself, when she's ready.  She's asking to go bye-bye on days when we're home all day and talking more and more.  It absolutely melts my heart and makes me cry rivers of happy tears whenever our little Peanugga does something new.

That was the three steps forward............the nasty C-Diff infection is the one step backwards.  C-Diff is a highly contagious intestinal infection that was caused by the antibiotics Madilyn took at the beginning of October for a double ear infection.  It causes nasty diarrhea, gas, cramping and an in general unhappy baby.  It has made for some very long nights as that is when she gets her feeds (her main source of nutrition).  Her j-tube feeds go directly into her infected intestines.

We are extremely thankful that after just a few days on antibiotics we have seen a complete turnaround.  She is sleeping better which is making for much better days too.  We are very fortunate because C-Diff can be very difficult and can lead to dehydration, hospitalization, kidney failure and sometimes it can be deadly.

If I never had to hear "that could've killed her" again I'd be a very happy grandma, unfortunately for me I don't see any time in the next few years that I won't have to hear that.  Madilyn is getting stronger every day and some things aren't quite as scary as they used to be.  I do seem to have the bad habit of taking my moment of meltdown with each new infection or setback and then I brush myself off, take a deep breath, pick my positive thing to focus on and keep going....

Defying the odds

So Madilyn and I recently went to Milwaukee for our first 4 day trip all by ourselves.  We had our first appointment with Endocrine to track her for possible growth hormone intervention.  The doctor and I mutually agreed that this is something that would be years away and will probably never happen.  With all of the other medical issues and procedures that she has already been through I don't feel at this point that subjecting her to daily injections just in the hopes of her being 5 feet instead of 4 foot 8 just isn't worth it. They also did a kidney ultrasound and lab work just because they are standard for Turner's Syndrome girls.

We then saw Special Needs Care Coordination, they are my lifeline, my sanity and my sounding board.  I would be lost without them and they love Madilyn.  They help with coordinating all of her appointments and equipment changes.  Our goal is to get everything coordinated so that maybe we will only have to go to Milwaukee once every 3 months next year instead of 11 times like this year............:)

Dr. Ruttum, the pediatric ophthalmologist was next.  He is thrilled with Madilyn's vision in her right eye and the glasses are doing their job so we'll see him again next year.

We back-tracked from Milwaukee to Green Bay one day to see the GI doc.......Dr. Gurram walked into the room and was talking and when he saw Madilyn he burst out laughing and said "oh my gosh, she's beautiful, I made her fat!!"  He couldn't get over how amazing she looked and how well she is doing.  The 3 pounds she gained in the first month after surgery is double what they anticipated so we have now cut back her feeds a little and are working on oral eating too.  The progress is slow but it's progress so we'll take it.

Our final appointment (the big one) is Neonatal development.  This appointment lasts up to 3 hours and Madilyn is fully evaluated by the nurse, the physical, occupational and speech therapists and then sees Dr. Baer.  This appointment is very frustrating for me because they ask questions like "do you think she actually knows who you are?"  This question hurts.  Of course they very quickly realize that she most definitely knows who I am and that she's capable of incredible things they never thought she'd do.  Dr. Baer informed me that according to all medical reasoning Madilyn should basically stay an infant, she should not be able to do any of the things she does much less be making even more progress.  She asked me if it was my goal in life to defy hundreds of years of medical research and history....this made me laugh.  I told her that was just bonus cause my only mission in life is to give Madilyn every chance possible at an incredible life.

I knew the moment she came out breathing on her own that she would defy everything.  My sister thought I was a lunatic because the medical facts spoke the complete opposite of my heart.  Madilyn is here to teach us all something and she proves that every single day.  At least three times in the past year we have heard that she should not be alive or that she should not have survived the illness she had, but she does and she's happy and healthy now and thriving in every way possible.

This very week one year ago was the absolute hardest week of my life......it was the week that I confronted my daughter's drug addiction head on and chose to go to court to take custody of Madilyn away from her parents.  I was adamant for a very long time that we would always be grandma and grandpa and we are but we also answer to momma and dada too...........September 14th is a day that we have chosen to turn into a celebration rather than a sad day.  We are going to celebrate Chosen Day every September 14th.  It is the day that we chose to put Madilyn first.  It is the day we chose to make a better life for her even though we knew it would rip other lives apart.  We did what we had to do and have not regretted it for a moment so now we choose to celebrate it.

I have hopes for this next year for much progress and healing for my heart and my family.  I hope to eventually begin the healing process and learn to communicate with my daughter again.  I hope for no life threatening ordeals and fewer trips to Milwaukee...........I am going to embrace the calm (and chaos) that is my life now and love every moment of it.