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 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