For years the doctors have been saying everything wrong with me is just all part of a jigsaw puzzle and today we got the final piece of that puzzle. Back in December I had genetic testing done as part of research to see if they could figure out why I have a long list of things wrong with me. In April Mammy got a phone call saying they had found something but they would need a new sample to send to another lab to confirm what they found. Well the results are back and what I have is very rare. I have protein disorder on Chromosome 13 called COL4A1. What makes mine rare is the variant G755R I have on this gene as mine in not something I got from my Mammy or Daddy its just something that happened to me. They call it a De Novo. Now there are De Novo findings on COL4A1 but not on the variant I have.
So this COL4A1 (G755R) is what caused the stroke, the seizures, the cataracts, the reason I am small and the list goes on and on. Now there is no cure for what I have I just have to follow up with all the special doctors I now see so they can keep an eye on things.
Wait until I tell you where I am going. I am going to Lourdes,France on a pilgrimage trip with other special kids. So give a big shout out to The Knights of Columbus Our Lady of Lourdes Council in Washingtonville, New York for sponsoring this trip for us. You can also help by giving a tax deductable donation to OUR LADY OF LOURDES BENEVOLENT ASSOCIATION INC.
You can mail it to Knights of Columbus
Attention Lourdes Program
18 Hallock Dr,
Washingtonville, NY 10992
This year they are bringing 7 children and a parent/guardian for each child on this wonderful pilgrimage trip. So we are flying out on Sunday June 26th and returning on July 5th. Grandma is coming with us but she had to pay for her trip. It will be her first time in Europe. So Mammy is starting to put my list of supplies together and pack them in our suitcases for our trip.
Daddy got good news from his last scan he had he is still in remission from his stage 3 Diffused Large B Cell Lymophoma.
School is almost over and soon Eoghan and Maurs will be on vacation. I will be off for a few weeks and then I start back with my summer program. I will let you all know we are going to Ireland or as Mammy says we are going home for a holiday the end of July. I have only been there once and that was a long time ago almost 8 years ago. Only Eoghan has gone back to Ireland with Nanny for a holiday since we were there last.
Well Sin e
