Help...My son is being referred to the WORLD!

[Salli198103]

Hi,
I'm reading other boards and trying to understand all the DS's and DD's etc! So please forgive me if I write in 'full'!
My son is 18months old.
He was referred to Paed at 12 months, for speech and language delay, and gross motor delay.
Paed diagnosed with generalised hypotonia, alternating squint, SAL delay, Hyperflexible joints.

Since then, he has seen Physio - referred for orthotic shoes - ankles very turned in, so standing and walking almost impossible to do properly (doesn't stand without leaning)

he has seen Portage (like a home learning system) who are doing a 6 week assessment (we are in week 2).
Still on waiting list for SALT.
Muscle enzyme test and thyroid tests both clear. (??? hardly explained to us)
He occasionnally says mamamama, dadadadada, nanananana, but just babble, not directed at anyone. He makes other noises, some nice, and some horrible groaning noises.

He also has glue ear on one side which makes his hearing on that side very dull. but the other side is fine.

He plays well, and interacts with facial expressions, and giggles, but NO words.

I have had thoughts of:

dyspraxia
learning difficulties
muscle diseases
undiagnosed DOWNS? (no facial features)
Mild Autism???? (unlikely with interaction)

Or he might just be delayed in EVERYthing! He has always been late to do everything, I mean really late, like 6 or 7 months late (crawled at 16.5 months). Is this likely?

I know it's a lot of questions but I just like to have names for stuff, then I feel I can deal with them. He is like an unfolding picture, and everything seems to have the underlying problems behind it.

I just can't think of anything else - which explains why I'm writing this during work!!!

Any kind words or ideas would help.

Thanks
Salli

Can't really help Sal, other than prepare you for the fact that you might not get names for stuff for some time (I feel the same, its very frustrating). My DS is globally delayed as a result of severe brain damage. It is a constant wait and see process to see how things go for him.
He is 7 months old at the mo, cannot roll over or sit up, and at one time his prognosis was very bleak. However he is a very happy chap who sounds just like your DS in the noise making department !

Someone far more knowledgable than me will be along soon, I'm sure, as I'm all new to this too!

Hi Sal, as feelingbetter says you should prepare yourself for not getting a diagnosis just yet.

However, (and I write this with caution) he does sound like my youngest child, who had very similar difficulties alongside a poor immune system and we got our diagnosis via a geneticist. He has a chromosme abnormality which only got diagnosed at age 4 (he's 5 now).

Not having a diagnosis is really difficult if you are the sort of person that just wants to know, warts and all. I'm like this and found the not knowing very tough. You have my sympathy. Apart from not having a diagnosis are you happy with everything else that is happening for him?

I will also just point out that despite all of his problems I have just picked him up from his mainstream school where he has had a another great day, recieves speech therapy, plays with his friends, moved up a reading level today and generally has a lovely time.

I hope you are okay.

Hi Salli,

My DS2 was like your DS, many problems affecting many "systems". He saw many doctors, and different things were suggested, like cp, angelmans, muscular dystrophy.

After nearly two years of going from doctor to doctor, test to test, we got a diagnosis of a mitochondrial disorder on Monday.

Your OP says your DS's muscle enzymes were clear - did he have a muscle biopsy done?

All the best,

Hello, DD2 is 19 months and started bottom shuffling a couple of months ago. She has GDD and SPD but so far have no reason or other dx. I really wouldn't worry about the not crawling til 16.5 months. DD1 (NT) was hypermobile and didn't bottom shuffle til 15 months and then eventually walked at 22 months. She is now 4 and loves ballet and socatots. Because DD1 was so delayed with her gross motor skills I'm not worried at all about DD2's as she is on par to reach the same milestones at the same time. In fact both were 15 months and 10 days when they started to bottom shuffle. DD2 has other delays which is why she is SN. What I am finding more and more is that DD2 does reach her milestones but in her own time and she does get there. I too would like to have a reason for this delay but our last set of blood tests were all negative, we are being referred to a geneticist but it seems like we may never have answers. As long as you have all the correct therapy in place to make sure your DS reaches his full potential you can't ask for more than that. Good luck xx