Genetic testing

[linn88]

Hi!
DS left blood tests for genetic testing in October 2022 and in January his neurologist called to say they found something but wasn’t sure it is relevant or not and that they wanted me and his dad to leave blood tests, which we did in January and haven’t heard anything since. Has anyone been through the same and is it likely they did find something relevant since they wanted us to leave tests as well?

DS is 3.4 months and he is non-verbal, short, has severe myopia, has needed hospital treatment for ketotic hypoglycemia two times.

It’s so hard not knowing what to expect…

We were called in, as genetic testing showed DD had a genetic disease, for a discussion in October last year. They took our blood to see if we had two normal genes or one gene variant (ie carriers) or two gene variants (ie sufferers). They took her blood to double check the original finding. We got the results towards the end of January this year.

DD was confirmed to have the autosomal recessive genetic disease, and we were both carriers.

I can’t tell you what the chances are for you, but imo they must have found DS has a gene variant or two, if they are going to the expense of testing you?

I should say, while DD was diagnosed with an inherited metabolic disease, we were told, we wouldn’t find a specialist in it (at least in the UK), so we don’t have a great deal of answers even now! There’s not much literature on it!

A good website, when you get an answer

https://rarediseases.info.nih.gov/

Sorry for such a late reply. Thank you for answering! Our neurologist called last week and said the test didn’t show anything but said they will go on with the genetic testing but at the department for metabolic diseases now. I’m not sure how everything works, but kinda thought that would show up in the first test. What metabolic disease does your DD have?

Hartnup disease.

Metabolic Support UK were helpful to me. I spoke to someone about the shock of the diagnosis - might have been their helpline?