What Mitochondrial Disease is for Lindsey

by Heather on June 2, 2011 · 3 comments

in 2011, mitochondrial disease, Staying Hopeful

Note: Heather is a regular contributor at Born Just Right. She documents the experience of being the mom of two wonderful and special daughters. Today she’s writing about her daughter Lindsey’s experiences.
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Mitochondrial Disease is so different for each person affected by it. It is one reason why it is so hard to recognize and diagnose. Basically though, if three or more systems are affected with no explainable reason why, mito should be looked in to. If anyone has questions about mitochondrial disease, please feel free to ask.

For Lindsey, this is what mito looks like:

*Failure to Thrive as an infant. She completely fell off of the growth charts in height, weight, and head circumference.

*Refusal to eat/not hungry. She was never a good nurser, although she always seemed satisfied (but that is because she wasn’t getting hunger signals) and though she started out eating solid foods around 7 months, by 13 months she had completely quit eating or drinking anything and had to get a feeding tube.

*She started with a nasogastric (NG) tube, then progressed to a gastric (G) tube, and now has a transgastric-jejunal (GJ) tube. This means that 100% of her nutrition is fed straight into her small intestines because her stomach can’t handle the feeds. She gets a completely elemental formula called Neocate Jr. Everything is broken down so that her body doesn’t have to do any work of digesting. Her food is fed to her continuously by a feeding pump that she carries around in a little backpack that we named Fred. She will eat a tiny bit of food from time to time, but she doesn’t like to chew or swallow. It seems to require too much effort.

*Her muscles are weak so she is delayed in her gross motor skills. She goes to physical therapy weekly, and makes progress, but illnesses tend to cause setbacks and she falls behind where she currently had progressed to.

*Her muscles and nerves in her GI system don’t coordinate properly and so her stomach doesn’t empty in a normal amount of time (hence why she could not tolerate feeds into her tummy anymore) and she cannot poop on her own, she needs daily medication. ¬†She also has severe reflux.

*She gets very tired. She’ll have bursts of energy and then she’ll completely zone out while she tries to recharge. Sometimes she’ll get to the bottom of the steps to go up, and just lay on the first step because she can’t find the energy to go up them. As a 3 year old, she still takes 3-4 hour long naps.

*She cannot tolerate heat or humidity, so if the temperatures are about 70 or above, she has to either stay inside or wear a cooling vest outside that has ice packs in it to keep her from overheating.

*Almost any time she gets sick, she gets admitted to the hospital for extra fluids to make sure her body doesn’t go through a metabolic crisis.

*Currently she is taking 8 daily medications, some of them twice a day.

*She has had many hospital stays, blood tests, anesthesia, GI scopes, procedures, doctor’s appointments…way more than I can count.

*Probably a bunch of other things that I can’t think of right now, haha.

But through ALL of that, she is a happy, fun loving little monkey! She looks so normal that you would never guess that she has gone through so much.

Lindsey, Fred (the backpack), and her tubey.

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If you’d like to contribute to Born Just Right, email jen [at] bornjustright [dot] com

 

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{ 3 comments… read them below or add one }

Karol June 2, 2011 at 8:16 am

Heather, as I read what you, Lindsay, and your family have gone through it seemed like too much to bear but then when I saw her photo I just melted at her smile and obvious spirit. I believe many people have been and will be touched by Lindsay and her story and she will be in my prayers. Thanks for putting it out there.

As a grandma of a little one with a limb difference I so appreciate this blog.

Heather June 2, 2011 at 8:28 am

Thank you so much for your comment. Lindsey is very special little girl and I know that her life will have a big impact…it already does! Her love for life makes everything that she deals with so much easier!!

Misty Krasawski June 2, 2011 at 7:54 pm

Oh, Heather! She is such a pumpkin, I just wanted to grab her off the screen and smooch her! I think you’re amazing. I know it must be heart wrenching sometimes with all the difficulties. But what a sweet gift God has blessed you with! I know He must show your family an awful lot of Himself through all your days. Bless you, and thank you for telling us more about her!

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