So we were contacted by Cailyn's geneticist a few weeks ago that they've finally come up with answers.
We've been testing Cailyn for various genetic and chromosomal issues for almost three years now. First at Johns Hopkins and then at the Kennedy Krieger Institute, also in Baltimore.
They've tested blood, blood sugars, proteins, spinal fluid, MRIs etc. So it ends up Cailyn has an anomaly in a neurotransmitter protein called STXBP1. It has only been discovered in the past year so it's super new science. Ends up Cailyn is the first case of STXBP1 at Kennedy Krieger.
It will not change anything in how we treat her. Since it's gene stuff it's not "fixable". The two biggest things with this protein are intractable seizures and developmental delays. Nothing new on that end, these were both things we already knew. The one new thing we found out is that this is NOT inherited so if we have other children there is only a 1 to 6% chance they would have the same anomaly, so 94% chance or greater that this would NOT occur again.
So no new steps for now. We are still supposed to stick with her neurologist for seizure control and all her therapies to improve her strength and skills.
Showing posts with label genetics. Show all posts
Showing posts with label genetics. Show all posts
Tuesday, July 26, 2011
Tuesday, April 26, 2011
Spring Break's Over
Well Spring Break is over and I'm back to getting up at 5:30am to get Cailyn ready for school. Her sleeping has been better and yesterday she only slept until 9 at school. Much better than her 11 am days.
We had a follow-up with Dr. Im yesterday. He feels she's more attentive and aware than even 3 months ago and wants to do a baseline x-ray on her hips to keep an eye on their development.
Along with all her regularly schedule therapy, upcoming appointments include: a followup with ophthalmology, genetics and neurology in May and then allergist, allergy testing and new GI doc in June. Fingers crossed she's over her milk and/or egg allergy. It would be great to add these items into her diet.
I'm not going nuts over the royal wedding. I will probably check out the coverage to see her dress, I do remember watching Princess Diana walk down the aisle on TV. So here's a fun little game.
Find your own Royal Name
Mine and Cailyn's royal names:
Duchess Jennifer Lulu Reeseton of Sterlington
Lady Cailyn Ticky Reeseton of Sterlington
The new king bed is ok. It's a bit too firm for my taste but the room is nice and not having 2 dogs on top of me is good too.
After Cailyn has left for school the past 2 days I've taken the dogs for a 2- mile walk. I started out the school year really well and did this walk for about the first 2 weeks of school. Then we got sick, it got cold and dark and I abandoned the morning walks.
Yesterday I thought I was going to have to carry at least one of the boys and my bet was on Otis, who is now topping out at 35 pounds and very strong, he's firm and very much muscle-y. Elvis has lost some weight so I think he's around 20. Elvis holds his own but sometimes Otis powers over him.
We had a follow-up with Dr. Im yesterday. He feels she's more attentive and aware than even 3 months ago and wants to do a baseline x-ray on her hips to keep an eye on their development.
Along with all her regularly schedule therapy, upcoming appointments include: a followup with ophthalmology, genetics and neurology in May and then allergist, allergy testing and new GI doc in June. Fingers crossed she's over her milk and/or egg allergy. It would be great to add these items into her diet.
I'm not going nuts over the royal wedding. I will probably check out the coverage to see her dress, I do remember watching Princess Diana walk down the aisle on TV. So here's a fun little game.
Find your own Royal Name
Mine and Cailyn's royal names:
Duchess Jennifer Lulu Reeseton of Sterlington
Lady Cailyn Ticky Reeseton of Sterlington
The new king bed is ok. It's a bit too firm for my taste but the room is nice and not having 2 dogs on top of me is good too.
After Cailyn has left for school the past 2 days I've taken the dogs for a 2- mile walk. I started out the school year really well and did this walk for about the first 2 weeks of school. Then we got sick, it got cold and dark and I abandoned the morning walks.
Yesterday I thought I was going to have to carry at least one of the boys and my bet was on Otis, who is now topping out at 35 pounds and very strong, he's firm and very much muscle-y. Elvis has lost some weight so I think he's around 20. Elvis holds his own but sometimes Otis powers over him.
Subscribe to:
Posts (Atom)