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......

Feeding Frustrations and Awareness

February 9-15th is National Feeding Tube Awareness Week....how appropriate considering the week we've had.  Madilyn was doing awesome until a little over a week ago.  She was up to 21 pounds 5 ounces and we were starting feeds into her stomach again and making really good, quick progress......and then she caught a slight cold.  When I say slight I mean slight...low grade fever for 48 hours and some sneezing, that's it.  No big deal....right?  Think again.

We started Saturday suddenly puking up a few feeds and waking 3 to 4 hours after starting her night feed just screaming.  Screaming like she was in unbearable pain and gagging and puking.  We slowed and diluted the feeds for a few days and nothing seemed to help.  Tuesday I weighed her and she was down to 20 pounds 7 ounces in less than a week so I called her GI doctor in Milwaukee and they feared that her feeding tube had either kinked or become displaced so it was an emergency trip to Milwaukee on Wednesday for a 15 minute appointment to check placement.  Her tube was fine.......

I'm very thankful her tube was still in place but it still doesn't answer what's going on with her then.  They have us slowing her feeds way down which means we are spending 18+ hours per day hooked up to the feeding pump again and she's still not gaining weight yet.  There are times that we have no choice but to unhook her regardless of her much needed caloric intake as she begins to relentlessly gag herself.  She crams that little fist all the way down into her throat and is digging at her throat...she used to do this before her stomach finally healed after her tube change surgery last August.  Now the difference is she's older and does it with a vengeance because she needs some type of relief from whatever is bothering her internally.  It scares me when she does it because she has made herself bleed and I fear that she will do damage to her throat or esophagus. It's times like this that I wish she had more of a vocabulary and could tell me what's wrong.  When she's not feeding she's happy as can be which leaves me even more perplexed.

I cannot even begin to explain the frustration I feel after driving 7 hours one way for an emergency appointment and coming out with absolutely no answers.  They instructed us to slow her feeds down even more and to call on Monday with an update and if she's still not gaining weight and tolerating better than it's back to Milwaukee to be inpatient so they can watch and observe and attempt to figure out what's going on.

It's crushing to realize just how quickly all the progress we've made with the feedings can so quickly be undone....and all from a minuscule little cold.....I can't even begin to explain the tremendous amount of grief it causes me.

I keep praying that she'll wake up and her feeds will suddenly go fine and her weight will jump up but I know the cold hard reality of it is that with a tube fed immune compromised child like Madilyn one bad day can undo months of progress.....I just pray we don't end up inpatient.   I pray that all the recent gagging and vomiting will not completely undo all the progress we've made with her oral aversion.  We finally had her putting food into her mouth for the first time in just over a year......

It's heartbreaking and frustrating and it's our life.  With children like Madilyn we live with the unknown every single day.  Unfortunately the doctor's not having any answers for us is more the norm than the rare occasion.  So when you're healthy little one wants just one more cookie .....please give it to them and count your blessings to be able to do something so normal.....