Thought I would share an update regarding my granddaughter. As many of you know we are raising “Tana” who has multiple issues including siezures, nastagmus that makes her legally blind (she actually can see but doesn’t process well), chronic gut issues, developmental Disabilities, Autism/spectrum, and of course PsA. It has been a constant struggle without a lot of success regarding a medication package to keep her moving and relatively pain free. Its more like an advanced game of wack a mole.
To make a long story short we have been on this thing HARD for the last 12 years and finally have an answer. She and one other reported person in the world have a particular anomally of the CHD8 gene. (CHD8’s connection to low functioning autism has been confirmed for sometime) The PsA and gut issues are only two of a number of similar issues including the siezures and nystagmus. these two kiddos have. Not sure where this will lead as we were all hoping it would be a metabolic anomaly which can be treatable as opposed to a protein packing which is far less so.
But the bottom line is there are people looking and finding things that even in 2013 when Tana had her last genetics consult that were unheard of and not even thought of. The particular lab (one of the childrens miracle network hospitals) we are dealing with in addition to Seattle Childrens is working very hard in the fields of Rheumatology and Genetics. On the 23rd we are participating in an international teleconference with genetic experts across the world and Tana is the subject. I’m excited if only to hear what is on the horizon. I’ll report what if anything I learn…
Wow! That’s really something. It’s the first step to understanding more about how to manage her condition better, so it’s a good step. That’s really neat that she’s going to be the topic of an international teleconference. I’m definitely interested in hearing more.
Wow, that’s such a lot for any one to deal with… it’s just amazing what researchers can stumble on, and how far that can lead sometimes… wouldn’t it just be awesome to think they might be able to come up with something that might help these two young ones and any others who may experience the same thing (or related issues) in future!!
It is encouraging to hear that research continues in the rheumatology and genetics fields… the potential must still be there to help an awful lot of people, in time.
I can well imagine your excitement and anticipation at what might come out during teleconference and at having Tana as the subject.
It will be interesting to hear what you learn from the experience.
All the best with finding something to help Tana!!
Wow. That’s truly interesting for Tana and this other child. I so hope they come up with something truly useful. My sister is a patent lawyer in the USA specialising in medical advances. She was a virologist in her previous life. So her clients are research institutions, laboratories and indeed anyone on the cusp of scientific breakthroughs. She’s always telling me how much they’re learning about all sorts of things we couldn’t even imagine. I so hope they can just help Tana and this other kid. But do let us know.
It great to hear that sort of research is being done. Chances are that more occurrences (perhaps less severe) will pop up as it is better understood, and hopefully at some point in the future it can make a significant difference to Tana and the others.
Do update us - fascinating stuff also from a science point of view!
My compassion for you with your granddaughter and her multiple issues! I have a five-year-old grandson who is on the autism spectrum. You deserve great congratulations for your loving care and persistence! --Nancy
Thought Id post an update! What an interesting day it was. The final report was 60 pages long. However they gave me a LAMINATED card to take to the ER an/or other appointments stating:
“Recent next next -generation sequencing of genes associated with epilepsy, intellectual disability, gastointestinal problems, and muscularskeletal issues includin joint hypermobilty and arthritic changes has found Montana to have a heterozygous 9-base paie deletion in the CHD8 gene. This particular varient has not been described before all though all CHD8 mutations are truncating or frameshfts an in-frame deletion of the amino acid directly preceding those affected by the patients deletion are cited as Pathogenic. The observed variant in Montana’s provides an explanation for Montana’s challenges. We recommending treating ALL of her medical challenges individually in ways that will most benefit her.”
TAKE THAT you SOBS who keep telling is her issues are behavioral and don’t need treatment… (Its very few BTW but always at 2:00AM)
They also signed off on her hysterectomy (Feb 22) want copies of her Swedish Hospital visit (4 days to evalluate medications) and believe "surgery (ablation) will control he siezues as well as surgical intervention for her chronic constipation) Also though he Rheumy was “Brilliant” (she made the referal based on a negative HLA-B27 and very obvious symptoms) The are working her up for EDS and possible gene editing (first likely second not so much)
Can’t fix her but at least getting her treated is going to happen EVERY TIME and every crisis…
Now to find her a group home OR grandpa a nursing home. I’d go either way at this point…
That’s all great news. Having the information allows you to make educated treatment decisions. Get her in a group home. It will allow her as much independence as possible while being safe and well cared for. Good luck with that process too.
Tntlamb, as well as being fascinating, what a win, and hard won, I know. Whilst it is a truly unique diagnosis, that is usually the most frustrating step - though medical treatment, as you say, is still over the horizon, at least acceptance that there is a genuine medical condition (at 2.00am, which is when you reallly need it), is not likely to be out of your grasp any longer.