Celebrating Inchstones: Mito friends

Saturday, July 31, 2010

Mito friends

Today was the UMDF Middle Tennessee Chapter meeting at Vandy. Or as I call it, my mito friends party! I just love this group of families!! And I took my camera but didn't take a single picture! Not even one!! I was too busy talking I guess! It is only from other families that I learned about the different strollers and wheelchair options. And other parents told me about the feeding pump that I love vs. the bigger, bulkier one home health original sent out (and that I used for a year!). Other families have given me advice on feeding and formula, diapers and tubing, equipment and car seats. The doctors don't give that kind of advice, or at least they aren't very good at it!

I found this mito group just days after our diagnosis and they had a meeting just a few weeks later! I've been hooked since then.

When you have a sick child who is undiagnosed or when the questions are many but the answers are few, it is a scary time! Finding other families is like finding a treasure map. Even if the symptoms or diagnosis don't match up perfectly we all understand the frustration of searching for answers. The advice on what test to ask for and what doctors to see has been invaluable to me in my fight for Asa. I really believe if I had not found some of the great parents in my search, we'd still be without answers and a very sick little boy. Too many doctors want to take the "wait and see" approach. I guess the desperate search for answers might keep you coming back loyally to see them. I hate to think that but clinics are businesses too. That is just a fact. Maybe that is just our specialist but I've talked to several who completely discount a mother's (or father's) intuition and I've got to wonder why sometimes. It takes a strong doctor to hear a parents idea and then actually act on it. Whew, I didn't mean to be doctor bashing but while I'm at it....

When Asa had his EEG we saw the neuro who had the clinic that week. We've never seen him before. He came in and we chatted. For those of you outside the medical world, it is a pain a the rear to meet new doctors!! You have to go through the history and story over and over again. You do it for the nurse, the student, the intern and then again for the MD. Sometimes I wonder if they just keep asking the same questions to try and trip you up. But anyway, this neurologist lumped Asa's mitochondrial dysfunction as a symptom along with his hypotonia, reflux, developmental delay, etc. I told him I understood Asa's situation as a defective gene in the mitochondria that caused the hypotonia, reflux, DD, etc. He kinda just blew me off and I didn't argue cause I just wanted to get the EEG over with! That and the 6 or 7 other people in the room and his white coat kinda were intimidating. Still his words stuck with me.

That is why I'm thankful to have Dr. Koenig in our corner!! I sent her an email on Monday telling her of my confusion and asking for clarification of Asa's diagnosis. Turns out I was right, Dr. XXX was wrong! There is so much misinformation with mito and not only from us regular folks but from specialist you pay out the wazoo to see! I understand John Doe down the street giving me funny looks when I tell them about mito but it is frustrating when it comes from a specialist you wait months to see and then you get a blank look or, worse, misinformation!!

So back to the UMDF! They try so hard to get right info out there. The right info, like 1 in 4000 are born each year who will develop mito. Like mito doesn't always come with a mutation that has an acronym like MELAS or MERRF. Like mito can present in so many ways and no 2 cases are alike. Like mito doesn't always mean cognitive delays. Like you can *look* completely normal and still have mito. I could go on but I won't.

Thank goodness we have the UMDF trying to raise awareness and provide doctors with the right info. I'm thankful to have the UMDF bringing together all these families so we can learn from each other. I'm thankful the UMDF provides me with support, info and materials so I can raise awareness too. And on that note, stay tuned for some upcoming plans and ideas!! :)

Oh and I have to mention that Asa had 2 whole fish sticks at supper tonight!! I used his spoon to scoop out the fish (or fish-like stuff!) inside the crunchy. He had 2 whole fish sticks and 2 green peas, after I peeled them. Yes, I peeled little, green English peas! I was impressed he tried those! And I was giving him water to drink to clear his mouth so he wouldn't choke. A few minutes later I noticed him chewing again and got scared that he still had fish stick in his mouth. Turns out it was a Smarties he'd found that was left over from a game we'd been playing earlier! I've been down this road before and know not to start planing on eggs and bacon in the morning but I'll celebrate while I can!!! YAY!!

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Asa's story

Asa is the 4th and youngest in this family. We thought he'd come into this world and our lives would flow right along as it had the other 3 times we brought babies into this world.

We were wrong! After a normal pregnancy and delivery, Asa had to be sent to the NICU because he wasn't sucking, blood sugar dropping, floppy muscles, exaggerated startle reflex and jaundice.

He stayed 5 days were he learned to suck and eat enough to come home. He began nursing well but would scream in pain 30 minutes after each feeding. He had so much mucus and drooled so much. He had a terrible rash on his face. He wasn't making eye contact and was not hitting any milestones.

I kept taking him to the pediatrician but got nowhere until his 2 month checkup when he had only gained one pound since birth. That earned him an appt with a pediatric GI and a change to Neocate formula. Odd gasping spells and eye rolling got him into a pediatric neurologist before the GI appt. The neurologist (he was actually the head of the pediatric neurology dept) personally walked us over to the GI clinic and sat us in an exam room. That kinda makes you worry! That is when we really got the ball rolling. Asa was 3 months old.

At 4 months he was admitted to Vanderbilt Children's Hospital. He stayed 8 days and had a NG tube inserted so we could feed him directly into his stomach. He kept this for 2 months. Also during this time he had an EEG, CT scan, MRI, upper GI endoscopy with biopsy, flex sig, numerous blood tests, a genetics consult, and an ophthalmology consult and many other pokes and prods! So began our relationship with specialist!!

After 2 months on the NG tube, we removed it and tried to get Asa to eat enough to gain weight. He did OK for a little while but by 9 months old, he was fighting each feeding and not gaining weight despite being on Neocate formula at 30cal/oz. The decision was made to have a G-tube put in. The G-tube is a feeding tube that is inserted directly into Asa's belly. He can eat orally but won't so he gets feed into his belly.

Since he was going to have to be sedated for the surgery, it was agreed he should have a muscle biopsy at the same time. By 9 months he had finally began making eye contact. He smiled some but not very social. He was still very hypotonic (floppy) and didn't even have head control. Something was obviously going on with his muscles. All of his brain scans had been normal.

In Nov. 2008, when Asa was 13 months old, we found out the results of the muscle biopsy. Yes, it took 3+ months to get all of the results! He was diagnosed with Mitochondrial Myopathy. He is deficient in Complex IV for all of you medical junkies out there.

What this means is that his cells can't make enough energy to fuel his body....specifically for him, his muscles and GI system, that we know of. If his body has to burn energy to fight off infection, or a stress, then he looses energy in another system. Mito is a progressive disease with no treatment or cure. We try to keep him as healthy and happy as possible. We use the feeding tube to keep him feed so he doesn't have to struggle there. He takes numerous supplements and vitamins in the hope that they will keep him cells healthier. We check his eyes, hearing, heart, kidneys, liver, brain and lots of blood work yearly. Mito can affect any system so it is important to have baseline and watch for changes. He has a GI, neuro, geneticist, optometrist, ophthalmologist, cardiologist, developmental ped, regular ped and a mito specialist.

He gets OT, PT, speech/feeding and a home teacher weekly. He has some sensory issues with touch, sound, taste and texture. This plays into almost all areas of our lives! He is still very hypotonic but gained head control at just over a year (right after we started supplements!). He learned to sit when placed in a sitting position at 18 months. He still can't get into sitting alone. He learned to bottom scoot at just over 2. He does not crawl or walk.

He knows the signs for "moma", "daddy", "more" and "all done". He can show them when prompted but we are still waiting for him to initiate. He waves "bye-bye" and points all the time now. He loves to take a bath and water in general. He has a contagious laugh and can flash the most flirty grin ever!

We learned, with Asa, not take the small things for granted. Each smile, sound, word, bite or even trouble!! You just never know when they might not be so easy to come by or even if you'll have them at all!