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DS may get his diagnosis - genetic testing

(6 Posts)
Strawberrykisses Wed 22-Jan-14 08:57:45

My now 4 year old DS was referred to genetics at a year old when in hospital for an unrelated matter they noticed multiple cafe au lait patches. We were told it was probable NF1 and a watchful waiting approach was adopted and he had all appointments he would have if he was officially diagnosed.
After a check up yesterday the geneticist says that he doesn't meet the diagnostic criteria yet but she is certain it's NF1. She is arranging genetic testing, a positive result will get us his diagnosis and she said that if it comes back negative she's inclined to diagnose mosaic NF1, meaning not all his cells are affected. This is brilliant news, as a proper diagnosis means I can talk to his school and make them aware of the behavioural and learning issues associated with Nf1, and hopefully he can get support if needed.
I think we are also looking at an adhd diagnosis in the future, which again, will hopefully be good in terms of him and us getting support.
Has anyone else got a child with NF?

Geneticsbunny Wed 22-Jan-14 19:05:04

I haven't but my DS does have a genetic disorder. Have you applied for DLA? We didn't for ages as no one told us we could.

I have found it really helpful knowing what is going on and being able to read up about the condition. Doesn't solve everything though as DS is an individual there is such a range of features in his disease ( tuberous sclerosis).

Geneticsbunny Wed 22-Jan-14 19:07:27

Looks like nf1 is similar to TS. Abnormal growths and affects lots of different organs.

nf1morethanjustlumpsandbumps Thu 23-Jan-14 16:43:33

Hello Strawberrykisses me and DS both have NF1 feel free to PM me any questions you don't want to ask on here.

Very common for kids with NF to have both ASD and ADHD, DS has. If you are on facebook NF1 Moms Rock is a fabulous group, you can see just how varied the condition can be and the other mums are lovely and give great advice.

Strawberrykisses Thu 23-Jan-14 19:37:22

Thanks for your replies, it means a lot to me. I'll check out the Facebook group, I practically live on Facebook!

heavenlypink Sat 05-Apr-14 16:21:58

New here and currently rather numb and confused
After three years of 'niggly' doubts I finally plucked up the courage to ask my son's paediatrician about the possibility of NF1 and in her clinical opinion we both have it She is amazed that it hasn't been picked up before now bearing in mind he is 17 and I'm 42 shock We will be getting a referral to the genetic centre which apparently happens in weeks not months
Can anyone tell me what to expect?

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