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Wednesday, July 29, 2009

July has gone by very quickly. Cant believe it is the 29th already. Still working on many of the same issues but making a little headway which feels pretty good. My mountain of paperwork has been reduced to just a laundry basket full. James is getting ready to start football next week so that really takes a big committment from us as there is practice 3 nights a week and games on Saturday at different places. It is a lot of fun to watch them play and I am planning on trying to take some of the games this year. I found these cooling cloths called Frogg Toggs that you wet and then they keep you cool for a couple of hours that I think will really help her to be outside. Heat intolerance is part of her condition and she just shuts down so if these work it will give her a lot more freedom. We do live in Florida so getting away from the heat is not an option.
We received some information from a geneticist in Atlanta that we have been working with and she is running some additional studies on Megan. Seems that her mitochondria are damaged but her thoughts were that it did not start there and the mitochondrial dysfunction is from a gene with a transport or processing issue, better known in the medical world as diseases that are inborn errors of metabolism. She has them pretty much narrowed down to a few. The prognosis is not better or different than it being the mitochondrial dysfunction primarily. The ones with testing being run are also not curable and are progressive and degenerative. Her presentation of symptoms is classic for the ones the geneticist discussed with me and I actually had them printed in my notebook of "stuff" that I think is relative. Still like a punch in the face though. Always holding out for the one Dr. to say "Good news - it is not what we thought and it is this and we have a cure." That would be part of the Miracle that I pray God will grant Megan. I dont care how it comes about - a scenario like that or any other - we'll take it!!!

Of the few I am hoping that if it is any of them it is the Pyruvate Dehydrogenase Deficiency. The others are leukodystrophy and liposomal storage diseases. All of them are metabolic diseases and a couple of them actually are classified under the United Mitochondrial Disease Umbrella. I was familiar with them when she spoke with me about them because I have read and researched them so many times. She was able to tell me that it was autosomal recessive meaning that Pat and I both carry a defective copy of the same gene and that the chances of any of our children inheriting the disease had only a 25% chance. The chances of us both having the same bad copy were incredibly low. We had a better chance at winning the lottery. The boys can both be carriers but they would have to meet someone with the same bad copy and then would have the same odds.

Meg was doing good the past couple of weeks and actually rolled over about 6 times by herself - in one day! She was showing off. She was so happy and smiling that she did it. Both her therapist and me were so excited when she did it!!! We have great therapists. They really love Meg.

She is on Diflucan right now for yeast overgrowth in her gut and mouth which is another little setback as it is killing her stomach. I have not slept in 2 nights (neither has Meg) and am really tired. Think I have to cancel therapy for today. She is not up for it and neither am I. My eyes are crossing right now as I am fighting to hold them open. Ryan has been awake since the crack of dawn and Pat left for Atlanta for business around 5 am so the day has been started for a while here already. James is sleeping - seems like this summer the sleep monster invaded his body!
Last thing - still waiting on the Ketogenic Diet. Another Mom told me about the Modified Atkins for seizures too. Contacted the Dr. at Johns Hopkins who is the brains behind them and they are having a study coming up that I might put Meg into for the seizures - if we can help with those more it could help to slow down the progression of her disease and give her a better quality of life overall.

Wednesday, July 1, 2009


Wow. I just figured out that there are a bunch of posts in the blog that I could not see(I think I have mentioned before that I am an idiot with this kind of stuff sometimes). I have read each one and am speechless with the love and compassion in each one of them. Thank you to everyone for all of your thoughts, wishes and prayers. I know they have helped.

My gratitude is endless! I know if Megan understood, hers would be too.

Happy 4th of July

Can't believe it is July 1st already. I love the 4th of July. I think it is my favorite holiday besides Christmas. Aunt Wendy sent Meg a 4th of July dress in January that I cant wait for her to wear. When we were deciding if we should proceed with the Trach for Megan I remember being home in her room and holding her dress and thinking - she has to wear this dress on the 4th of July. As strange as it sounds it was a turning point for me in the decision process because I could not imagine her not being with us on the 4th. So the dress is more than just a dress for me at this point and so is the 4th of July.

Megan had her central broviak line removed over this past weekend slightly ahead of the scheduled date of July 2nd. She developed infection in the lines that had to be treated right away and removal right away so it would not turn into sepsis. Those lines are scary things. They dont belong in our bodies. I was so careful with it and she still managed to get infected. I think she did it on purpose so she could go in the pool again. It is a little bit more freedom for us. They got in the way A LOT. Her chest looks so bare now too.

Going back to the PICU was scary. I was afraid Megan would get a secondary infection and would get sick. It was nice that we had a private room so we did not have to share germs and it was really good to see some of the nurses that I became so bonded too. I have to make time to be able to stay in touch.

Summer is rolling by and we are still just taking it day by day. I am sad that we are not going away with Jimmy and Wendy this year, but we did not know how or what was going to be going on this summer. Still dont really!

Megan has ongoing seizure issues and it sounds like she is going to start the Ketogenic Diet. It can be helpful and certainly should have less side effects than ACTH. Have to go do some reading on it now.

Happy 4th of July!!