Think I'd better introduce myself...

[Madoldbird]

Hi

Just wanted to introduce myself really, as i reckon i'm going to be a regular around here!
(Have spent time in the past on a few other areas of MN). Would also welcome any information and experiences that people feel able to share.

It feels like our world has just completely changed. DS3 is 14 1/2 months old, & one of twin boys. Potted version of events is that he was referred to physio around 6m as he couldn't hold his head up, roll, etc. Had that fortnightly & has had steady progress. She suggested we saw a paediatrician for a devlopmental assessment, due to his motor delay, but also due to his fear of noise (particularly laughter), strnage places etc.

We saw the paediatrician on wednesday. She spent 2 1/2 hrs with us. She feels he probably has autism, as he has several of the features, inc the way he plays (spins wheels for hours!) lack of desire for pyhsical affection. I had had my suspicions about this.

However she also said she feels he has a chromosomal problem, or a "syndrome" as she put it. She based this on things we had noticed: inability to breast feed, poor feeding in early weeks, lack of growth in recent months, constipation, undescended testes, hypermobility, hypotonia, motor delay (still only commando crawling, cannot pull up to stand), delay in language & understanding.

However she also noticed a lot of things we hadn't - facial features, finger shape, size of head, poor growing big toenail.

He is therefore being referred to a paediatric neurologist, genetics specialist, audiology, opthalmology, OT, bowel specialist, for chromosonal blood tests,and the "autistic pathway". She appears to suspect he may have a syndrome plus autism as well.

We basically feel compltely shattered, but remind ourselves that he is still exactly the same gorgeous boy he was a couple of days ago, and this will hopefully lead to accessing all the help he needs.

What i am wondering is if it is common for chromosonal abnormalities to not be picked up until 1 yr+. I assumed anything major would have been noticed at birth? I would be so grateful to hear of anyone's thoughts, or if any of this rings bells with regard to your own children.

Sorry for the long post - it helps to get my head round it just putting it down in writing.

MOB

hi there, you must remember he is the same beautifull lil boy he has always been. my son is 6yrs and got diagnosed with autism earlier in the year after being under special needs at school and nursery since the age of 2. altough he has no chromosone syndrome sometimes things take such a long time to diagnose as they need to observe the child and see how they are developing.( they may just be behind a lil) weather you r son is 'normal@ or not he will always be yours and be so precious xx x x x x i joined a support group in my area to find other parents who i can relate to tohelp find stuff out i wasnt sure about xx

Welcome to the board - its eally supportive here and although I dont know anything about chromosonal abnormalities I am sure that someone who does will be along soon.

My son is 3.7 and has Autism - we have had his DX for over a year now and its still raw, but it does get easier. Also for alot of us, although the DX was hard, it does open doors in terms of support and help.

hello

my dd3 has a genetic syndrome, she was finally diagnosed just before she turned 2, it's not unusual for things not to be picked up at birth. The thing is all these referrals you are getting are great, they may identify something or they may not, but they are the standard lets just check everything while we are here list, iyswim.

getting physio is a great start, you may also want to ask about referals for speech and language therapy, occupational therapy and portage etc.

be kind to yourself, it's a lot to deal with when you feel it's just sort of dumped on you at no notice. Your ds3 is just the same little boy, this doesn't change that

Hi there,

I'm not around much, but welcome and sorry to hear of your dx. It is a life-changing path, and it takes a while to adjust, but you are right on saying that your boy is the same wonderful, gorgeous person he was before you went in the hospital. I don't know much about chromosomal abnormalities, but I would say that you have time on your side as he has been diagnosed with autism so young. You have lots of time to get a good team of support workers around you - ask for referrals to a physio and OT and possibly a SALT if necessary, if the paediatrician isn't already underway with these.

The SN board is a wonderful place for support - there are folk here who have got me through the really bad times, so I hope you get some more relevant advice from someone on the chromosomal side. Take each day as it comes and try not to overwhelm yourself.

Thank you all for the lovely welcome

We are lucky that DS has been having physio for some months, a referral for OT is in, and the referral into the autistic pathway (about a 6m wait) will give us access to a whole team, including psychology and SALT. We can't fault the input really. Although sometimes i feel like running away and never seeing another medical professional again!!

bigcar may i ask, was your DDs diagnosis made just on blood tests or were there other criteria?

Hi, another one here who didn't get a diagnosis for 18 months even though we have the similar missed milestones - not holding head up, etc, early on.

Welcome to the MN sn board, a lovely place to get advice and reassurance on many many topics!

It can seem like a sudden overwhelming immersion in the world of hospitals and consultants - get yourself a large notebook for all the names and telephone numbers, and a file to keep the letters.

Write down the early years milestones you noticed, as you will be surprised how often you have to repeat the same history to each new consultant you see.

I also have a little book of achievements - so I can look back and wonder at how she learned to do such-and-such etc!

Also, have you asked for Portage service? Your OT should be able to refer you.

geneticists, in the nicest way possible, can come over a little odd when we went with dd3 ours spent ages staring at our faces and features whilst taking the family history, which I believe is pretty common however disconcerting! So it isn't dependant just on blood tests. Dd3 was diagnosed on her skin markings and medical history as there is no definitive blood test for the syndrome she has. She has since had a brain mri, blood tests and skin biopsy of which only the mri showed anything useful.

you do get a bit fed up with all the doctor appointments but it generally does get easier. Dd3 is seen now on average 6 monthly and we have cut down on the number of doctors she is under as well. Now she is in school she gets most of her therapies done there too.

Welcome madoldbird - good advice from melted . Take notes, write down achievements etc, because it's amazing how 1 appointment blurs into the next.

Welcome too macoldbird. My DD1 has a brain malformation, epilepsy and global development delay. It is very likely that she has a genetic syndrome, but they haven't found it yet.

We weren't picked up properly until 2.9 (2 years 9 months) after she had started preschool, despite missing milestones.

Hello there. You're story sounds very familiar to me. At DD2's 8 month check she failed miserably, this led to a development check by paed and then by 11 months we were having weekly physio/OT/SALT and at 15 months weekly portage started (would HIGHLY recommend Portage).

Her gross motor was by far her biggest delay with fine motor and speech being quite delayed. She is now 3.3yrs. She's had the MRI scan, genetics tests, and goodness knows what else and nothing has showed up.

She has autistic traits and considerable sensory processing difficulties however the older she gets the better she gets, we now have days where she doesn't display any traits at all (then days where she really really does).

This board has helped me through so much, although I don't post that much I am a regular lurker. Keep posting!!

Thanks, you all sound lovely! I already feel at home

bigcar you made me laugh about the geneticist! I shall get ready with a "paddington hard stare" if he / she does the same to us . No doubt they will - the paediatrician already made DH take his glasses off so she could look at his eyes more closely!

Thanks for the mention of Portage - i shall look into that.

melted that's great advice - i have bought a file today for all the paperwork we have already accumulated and am going to write a brief summary of DS both pre & post birth.

mumsgoingcrazy your DD does sound similar - it is nice to hear she is making good progess.

Thanks again - i look forward to getting to know you all.