Celebrating Inchstones

Friday, June 10, 2011

I've had so much I've wanted to blog about but it's been so long that I'll just hit the high points.

First of all, the food allergies! The blood test came back positive for food allergies and negative for environmental allergies. The scratch test came back negative for food allergies and positive for environmental allergies. Despite these misleading results we decided to go a week without diary, soy, tree nuts and peanuts. After a week off we added the foods back. Really just the diary. He never really had nuts anyway.

During our off week things went well. Asa didn't eat enough to feed a fly and lost 2 lbs but other than that.... He was pooping on his own, even if they were little golf balls and difficult, he still did it without meds or screaming. There was much less gagging and no puking! NO puking! I even squished his leg in a grocery cart and he cried and cried but no puking!

So Sunday we added dairy back. A cup or two of Pedisure every day. After a few days Asa puked 30 minutes after drinking a cup of Pedisure. There was no trigger, just a puke. Since then he has been gagging in the morning. He has been ill and a pain. He has puked a couple of times. And he is beyond constipated today. If you were in Walmart this afternoon and heard the screech and screams of a little kid that made your ear drums burst...that was us! I felt so bad for him but what could I do!

Our directions were to withhold the dairy again and then again. See, off one week and on another so we can be certain it is dairy triggering the symptoms or some random trigger. I'm thinking we are NOT starting it again. Of course we are NOT giving him dairy now. Hopefully, we will have that happy tummy back again. We see the GI on the 15th to discuss the weight loss and a plan.

We ordered Asa's wheel chair this week. We've been missing the DME and communicating through phone calls. We have been trialing a Quickie Kidz for a while now and are getting it. I thought we were ordering a new one but today the DME said his understanding was that we were buying the one we are trialing. It was new and hadn't been used so that's fine with me. Just means we get to keep it now and not have to wait. If you haven't seen Asa chair it is the cutest thing ever but it doesn't have a parent handle, like a stroller handle. That means that I have to bend over to push him along when he gets tired or distracted. I requested one of those, a firm back support and a different foot rest. The DME immediately said he had a handle in the store! Good to know now! He put it on today and added a longer seat belt so that we can buckle it from the back since Asa learned to unbuckle! We were trying the new system out in Walmart before the poop attack occured!

In some hopefully pretty awesome news, there is a new announcement in the world of mito. EPI-743 is a drug that's been used in a few cases of mito where death was imminent. Since it is still so early the trials there had to be a known mito mutation to even be considered for the trial. Many mutations are not "documented" as disease causing so this eliminated a large number of people who suffer and could benefit. Once example is Piper. Even though so much of her medical history pointed to mito she didn't have a "known" mutation. She couldn't get the drug and she died. Her doctor is speaking on the reasons to change the rules for compassionate care and has a very touching video on YouTube. It is a bit long but Piper's story is in the last 15 minutes, I think.

So now the FDA is giving EPI-743 Orphan Drug Designation. ODD is reserved for diseases that have fewer than 200,000 people affected in the US. Mito affects 60,000. That is reason #1 to raise awareness for mito. It is highly suspected that many more are affected but only mildly so no one looks for mito. Anyway, with this new designation many more people will be accepted into the trial. It is still a study so there are criteria but I'm hopeful for Asa and others that we know. To be clear, it is NOT a cure but a possible treatment. Only the sickest of the sick have been tested and they haven't had miraculous turn around but they have done better. I'll be email the Dr. for sure but we've been warned to be patient. You can imagine there are many seeking info. By the way, Dr. Koenig in Houston sent us a pretty generic letter stating the info and that our child may be a candidate so we should contact the doctors. Her clinic isn't participating but just like I suspected her clinic got the info before the Vandy dr. did. Or at least she passed it on first. That's why we have a mito specialist!

Ok that catches you up on Asa...mostly. In other family news, Gracie made the All Star team for her 7&8 year old coach pitch league. She is beyond happy and I'm already seeing it'll be a busy summer! Cade also made the All Star team for his 9-10 year old kid pitch league. Yep, that's double the practices for both kids plus tournaments and games in different cities at different times all of June and July! Good times!!! Gracie plays in her first big tournament on Saturday. I'll be excited to see how she does!

Oh and VBS is next week too!!!

1 comment:

Debbie said...: I too am anxious to find out if Hudson will now qualify....I don't have a ton of patience as it seems everything is such a waiting game.....it is interesting all the info different mito families are gathering on this.....sometimes I think the network of families is more helpful than the doctors!

Hope you all are well!

Hugs...deb and h; June 11, 2011 at 11:50 AM

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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!