StephiLou
09-29-2008, 08:05 PM
OK. We had a REALLY good weekend!
First, we were able to take DS to the annual picnic that the docs have for all of "their" heart kids. We had a really great time. We were able to catch up with some people that we haven't talked to in awhile. It was outdoors at the Wildlife Park - combo state park/zoo. We were able to take him to ride the train for the first time. He fell asleep. LOL! He was in a really good mood, the weather was great (80/light breeze), and not a lot of people who got right in his face. (that freaks him out).
This is the part we are REALLY , REALLY excited about...............drumroll please
.................................................. .................................................. .....
After 4 1/2 years, we may actually have a diagnosis for DS! Woo!Hoo!
Funny enough, I was listening to a TV program while doing dishes(Mystery Diagnosis - TLC) & the Mom was talking about her boys, who were both ill. The first one unfortunately died before they found out what the problem was. The second child came pretty close. At the end, they ran down the list of criteria for Barth syndrome , it was Christopher!!!
I went to the foundation website and read the abstracts regarding the syndrome. ( www.barthfoundation.org ) Absolutely everything applies to Christopher. We have all been tested for hundreds of disorders and syndromes. He always has 2 or 3 symptoms of things, but never the whole package.
So, I spent most of the day on the phone with Cardiologist, GI, neuro, and genetics today. The more we all talked, the more everybody got excited about BARTH syndrome. ::) The docs probably all hung up today and were thinking about how weird it is that we are all celebrating, "Yeah! MY kid has a rare uncurable syndrome! Woo!Hoo!" ::) LOL!
Anyway, the next step is to do genetics again to confirm. This is a recesive x-linked chromosome disorder. Translation - women carry it, boys develop the syndrome. So, any other boy children that we would have would have the syndrome. Girls would have a 50/50 chance of being a carrier, but never develop the syndrome.
There are only 47 other boys/males in the U.S. that have this syndrome. If Christopher has it, he will be the first to have both this syndrome and Down syndrome. The Down syndrome was just a fluke (we really already knew that).
The doctor who discovered it, and for whom the syndrome is named - Dr. Barth, is in the Netherlands. At some point, everybody who has the syndrome has been to see him. Trip to Holland? :) At the least, we may have to travel to the east coast to Kennedy Kreiger.
The funny thing is, there is a famous article about raising a child with Down syndrome called, 'Welcome to Holand".
coincidence? :)
Steph
First, we were able to take DS to the annual picnic that the docs have for all of "their" heart kids. We had a really great time. We were able to catch up with some people that we haven't talked to in awhile. It was outdoors at the Wildlife Park - combo state park/zoo. We were able to take him to ride the train for the first time. He fell asleep. LOL! He was in a really good mood, the weather was great (80/light breeze), and not a lot of people who got right in his face. (that freaks him out).
This is the part we are REALLY , REALLY excited about...............drumroll please
.................................................. .................................................. .....
After 4 1/2 years, we may actually have a diagnosis for DS! Woo!Hoo!
Funny enough, I was listening to a TV program while doing dishes(Mystery Diagnosis - TLC) & the Mom was talking about her boys, who were both ill. The first one unfortunately died before they found out what the problem was. The second child came pretty close. At the end, they ran down the list of criteria for Barth syndrome , it was Christopher!!!
I went to the foundation website and read the abstracts regarding the syndrome. ( www.barthfoundation.org ) Absolutely everything applies to Christopher. We have all been tested for hundreds of disorders and syndromes. He always has 2 or 3 symptoms of things, but never the whole package.
So, I spent most of the day on the phone with Cardiologist, GI, neuro, and genetics today. The more we all talked, the more everybody got excited about BARTH syndrome. ::) The docs probably all hung up today and were thinking about how weird it is that we are all celebrating, "Yeah! MY kid has a rare uncurable syndrome! Woo!Hoo!" ::) LOL!
Anyway, the next step is to do genetics again to confirm. This is a recesive x-linked chromosome disorder. Translation - women carry it, boys develop the syndrome. So, any other boy children that we would have would have the syndrome. Girls would have a 50/50 chance of being a carrier, but never develop the syndrome.
There are only 47 other boys/males in the U.S. that have this syndrome. If Christopher has it, he will be the first to have both this syndrome and Down syndrome. The Down syndrome was just a fluke (we really already knew that).
The doctor who discovered it, and for whom the syndrome is named - Dr. Barth, is in the Netherlands. At some point, everybody who has the syndrome has been to see him. Trip to Holland? :) At the least, we may have to travel to the east coast to Kennedy Kreiger.
The funny thing is, there is a famous article about raising a child with Down syndrome called, 'Welcome to Holand".
coincidence? :)
Steph