Friend's baby has been diagnosed with terminal genetic condition.

[GetOrfMoiCase]

Don't want to say too much as I don't want to out them - I don't think she is on MN but still.

They found out this week that their 3 month old baby has a condition called Spinal Muscular Atrophy type 1. It is degenerative and the expected life span is a maximum of 2 years. There is no cure or treatment as far as I know.

As you can imagine they are absolutely heartbroken. My DP is with them today working on some building stuff with the father, in an attempt to try and 'do' something. I am going to visit them this evening. DP says that they are in a state of complete shock.

We visited when the baby was 3 days old, me and DP held her when she was a tiny newborn. It is absolutely devastating news

Does anyone have any experience of this condition?

And how on earth can I help the parents with this bloody awful news? I want to do as much as I can without being obtrusive.

Have they told her it will definitely be a 2 yr life expectancy - as I have read that some people can have milder cases and live a lot longer

So sorry to hear this

She was told it was 2 years max. However this was via DP so will find out tonight a bit more.

Just so gutted for them. The baby is beautiful, bless her. I had never even heard of this condition.

Ahh yes, I have read little more now How awful for them

I am new here. An NCT friend has a 9 month old same condition. Send me A message and I will tell you about our experience as I do not wish to post it online just in case. Ps - I won't be online again till this evening.

Useful resource about SMA.

So sorry for your friends and their daughter .

Thanks everyone and thank you for that link oxford.

Hi all.
Just searched sma type 1, sorry to hijack an old thread but am so worried about a good friend who has a baby just diagnosed with type one. Any one know what I can do to support her? Her baby will not live. I have no children. I just want to help her but I don't kno how