3 year old boy with as yet undiagnosed syndrome - help!

[Jude00]

This summer, 10 days after giving birth to twins, we were called to a meeting with my sons neurologist and told that he was very likely to have one of 2 degenerative syndromes. The doctor wrote them down for us and we returned home and locked the piece of paper away in a drawer..This news came 3 weeks after we were told during what we thought was a routine Opthamology appointment that he has cataract and had to have an operation to try and restore some sight in his right eye - most of which he had lost. And did I mention that I had twins in amongst all this!!
I hoped that I might be able to find some support and hopefully come across some people who find themselves in a similar position. I don't know anyone who has a child with special needs or a disability currently so I feel very alone with my worries and feelings. My son has just started pre-school and I worry about him so much because he has a very limited vocabulary and doesn't really 'talk', he also has mobility difficulties due to his sight and the fact that he has one leg longer than the other and wears one build up shoe.
Would just love to hear from anyone with any similar stuff going on!

So you don't know what his condition is? Did you look at the paper? Where about a are you?

I presume he has a pead? If so they can notify to education and early support, portage. That's the minimum really they can do. But that's England

Hello - my ds is undiagnosed (he has a possible diagnosis, but saw his geneticist today and she is unsure and suddenly considering other things!)

Do you know when you will know the results of the tests they have done not the degenerative conditions - it is a very scary time. Ds was tested for Spinal Muscular Atrophy when he was younger, we had a 3 month wait for results and it was awful.

Has he got support at preschool? A 1-1? Does he use Makaton at all for communication?

I don't know if you are on FB but I have found it very good for specific sn support (eg specific genetic conditions, Global Delay, SWAN -Syndromes Without A Name)

Have you not googled the two possible conditions?

I understand everything except why you have locked the piece of paper away in a drawer.
I get that it is a short term coping mechanism, and the ostrich head in sand position can be reassuring for a short while, but in all honesty, at some point you are going to have deal with this.
Are either of the possible conditions genetic? Is there a chance that one or both of your twins could also be affected?
There are lots of parents dealing with every imaginable issue with their kids - the disability community is enormous. But you do have to start reaching out and accessing support, and getting to know your way around. Posting here is a really good start

Dd2 has very boring cerebral palsy. There is nothing dramatic, it's just a part of her, but at 3 she wasn't walking, or talking. We spent a lot of time with different therapists, eye docs (she had surgery at 7), educators etc. get to know the SENCO at nursery and make sure that any provision he needs is provided. Neurologists are GREAT, but they aren't usually the best at hands-on practicalities. Do you have a community paediatrician?

Is there a support group for the two conditions that have been suggested to you? Posting specifics is usually a better way to get specific info.

Congratulations on your twins btw! Dealing with siblings when you have a child with a disability is an art form, for sure. But plenty of it happening every day, everywhere.