Help with a diagnoses for my grandson


#1

My 2 month old grandson Graysen was just diagnosed with AT(ataxia telangietasia)(sp) we are doing research but if anyone knows of any support groups or knows anyone with this we would love to talk to someone


#2

I had never heard of this, just looked it up. I used to work in the medical field but now I am disabled due to a genetic disease (some of my kids have this as well) and a couple auto immune diseases. Due to one of my treatments and my genetic disease I also have immune deficiency, however I know its far more difficult with a baby who’s immune system would be very immature as it is. I found a lot of support groups on FB for my diseases maybe that would be a good place to look.
Hope you find more people who are going through the same thing, from personal experience its very helpful.


#3

I do not know of any support groups but facebook would be a good place to start. I am sorry for the diagnoses and will be praying for your family.


#4

If you go to the site for National Organization for Rare Disorders there is an abundance of information about this condition. Finding support can be difficult because not too many people have it. Look online for support for parents of children with Ataxia Telangiectasia.


#5

So sorry that your grandson has this but will be sending him and your family up in my prayers.


#6

That’s a very early diagnosis for him. Sending positive thoughts to you and your family.


#7

So sorry. That is a very serious diagnosis for a two month old. Did they do genetic testing? Find it on his AFP test? are his parents carriers of the mutation? do they have other kids?

My guess is he will be followed closely by a neurologist , Rheumatologist. pediatric oncology/hemotology. These two offices should have resources for support groups. They should also give you a referral to a social worker that can help you find support and resources.

You can start here:

//primaryimmune.org/

As a parent of a child who went through a six year uphill battle with the C word. I can tell you that getting a good team in place, doing research, asking a lot of questions and being the very best advocate you can for you child makes a huge difference.

I would also call St. Jude and see what kind of research or treatment options they might have, they are very kind and a wealth of information.

Much love and healing energy to your family.


#8

Thank u for this they thought he had SCID so they did more test & that’s what they came back with they said that both of his parents have to be carriers in order for him to have AT this is my daughter’s 3rd baby & her boyfriends 1st my daughter other 2 don’t have it as far as we know they are 6 & almost 8 they haven’t set him up with anything besides his immunologist in San Francisco


#9

UCSF is amazing. He will get great care.

So much love and healing,

G


#10

That’s where he’s been going but they haven’t started any treatment yet my daughter is talking to John Hopkins hospital hopefully they can help