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..