Microcephaly and developmental delays. Anyone else in limbo waiting for diagnosis?>

[sparklygem81]

Hi everyone,
Just looking for parents in a similar situation to us. Our daughter turned 2 a few weeks ago. She is very small for her age and we were told she had microcephaly from a very young age (she was IUGR and 5 weeks prem). We didn't know the implications of this at the time, we just thought it meant she had a small head and put it down to her being prem.She is on 2nd centile for height and weight but way below 0.4 centile for head circumference.
We had a meeting with a geneticist yesterday who is starting out on the road of genetic testing to find out what is causing her to have such a small head and be so small in general. She believes that she definitely has a genetic condition/syndrome that is causing this and we also discussed other ways she could be affected
She told us that a small head can indicate abnormal brain development and therefore she may have some form of learning difficulties but it is almost impossible say to what extent at this stage.
Development wise DD is delayed, she sat up at 8 months, never really crawled, walked with a walker from 12-20 months and walked independently at 20 months. Speech wise she began saying words at 11 months and we thought fab no probs there, but then stopped after a few months and now at 2 hardly speaks. She has just been referred for speech therapy. She varies in her interest in toys etc some days she will play with them other days wont even pick them up and she seems to have a quite low attention span.
Does this sound familiar to anyone else?

hi, my daughter is 10 months old, whilst I was pregnant they were concerned about head size, she was born at 38 weeks weighing 6lb. They said her head was small but it was nothing to be concerned about as she's small all over. Im not sure about centiles without checking the red book but they are on the bottom ones.
I've just recently been to a paediatrician as she is unable to sit up unsupported, unable to crawl and generally seems quite 'stiff'. She's using her hands quite well and babbles but she's never laughed or cried properly. The doctor was also concerned about her small head!! They are referring her to a physiotherapist, the child development team and a neurologist.
I'm afraid I cannot answer what syndrome your daughter may have but I just wanted to let you know that your not the only one who's going through this and hopefully we have an answer soon as to what we're facing. If you do manage to find out please let me know as it may be the same condition my daughter has. thanx x

Hi elliefant,
Thanks for your reply it's sometimes just nice to know there are other parents out there going through similar.
My DD was born at 35 weeks weighing 3lb 14oz really small all over. They were always concerned about her size but never really about her development until she was well past 1 and hadn't started walking. Concerns for her development are now getting worse because even though she's walking her speech is nowhere near and other things like fine motor skills are behind. If they have picked up on your lo's delays earlier it may be a good thing as the referrals can only help.
The geneticist told us it will be a long wait to get a diagnosis,months rather than weeks,and from what I've read from other parents waiting for diagnosis it can take longer than this.
I'm just hoping that her microcephaly is just one of those things and that her small head won't have any future implications for her, but as time goes on it seems this May not be the case x

That seems a long time to await a diagnosis, I thought I would see the neurologist etc and they would tell me there and then, googling is just so confusing I hadn't realised how many syndromes there are!!
My daughter was late babbling, its only been the last few weeks but she no longer says mum mum (I thought this was because she was busy using other sounds) and I really hope she doesn't lose her ability to communicate. She's been late really doing everything really, my health visitor wasn't too concerned and said she was a late developer but the doctor thinks otherwise and I now think its really quite obvious she has a few issues and it seems her small head is part of this (length and weight was 9th now 25th centile, head 0.4th centile! I've just checked). Its quite a scary really knowing there's something going on but not exactly what.

Hi my ds2 is 6 weeks old and he has microcephaly as well as other medical problems. It was all picked up at a routine 28 week scan for gestational diabetes. They noticed his head was small on the 0.4th so we were sent for an MRI which confirmed brain damage and microcephaly. He was born at 37 weeks weighing 4lb 11oz, he's now just under the 0.4 centile for weight. We are also currently having genetic testing and checking for metabolic disorders. So far they know he is missing part of chromosome 13 and are now looking at my DNA to check if this is a normal family variation or the underlying cause of his problems. The whole process takes a long time but we are hoping to get answers soon.

Development wise he is already showing signs of being delayed, for example he really struggles do feed/drink and needs his milk through a gastric tube. They also have concerns with his breathing (he's home on oxygen), heart, eyes, hearing, liver and spleen. But he is a little fighter and is home slowly making progress.

I really hope you get some answers soon. It's really hard waiting for answers not knowing what the future might be like. I'm hear if you want to talk/share experiences. Good luck x

Hello, when I first came onto the sn boards 3 years ago, i started a thread called 'The bumpy road to diagnosis, anyone fancy holding hands?' My ds (who was then 10 months old) had just been assessed as being the developmental age of a 1 month old, and we were waiting for an MRI, bloods for genetics and lining up our first TAC meeting to sort out what support our child would need.

Ds is now nearly 4, he sat at 12-15 months, walked at 28 months, he has no speech, and is delayed in all areas. His MRI was normal, all his blood tests have been normal. It is still thought that he has a genetic condition, and he is part of 2 studies, one into a specific condition it is thought he might have and the other one is called the DDD study - Deciphering Developmental Delay (it is basically studying the DNA of 12,000 children with developmental delay, but no diagnosis, using the latest genetics technologies).

There are approx 50% of children with learning disabilities without a diagnosis, a large proportion of these are believed to have a genetic condition, but the world of genetics is so vast and new that the science hasn't caught up! There are 1000s of genetic conditions and chromosomal abnormalities possible, and despite using the most up to date technologies it can be very difficult to pinpoint one particular chromosmal aberration.

There is a great website called SWAN UK, (Syndromes Without A Name) which supports families with children who don't have a diagnosis, they have a very busy, friendly forum of parents and a lot of information about testing etc. Their website is here.

I have also found a lot of support here from parents of children with all sorts of special needs - whatever the diagnosis we are often going through similar things, and trying to get support for our children. There are some incredibly knowledgeable (and lovely and friendly) people on here!

I don't know if you would be interested in a 'hand holding' thread like the one i mentioned earlier, i found it incredibly helpful in the early days.

Ds may not have a diagnosis, but it is a lot clearer now what his needs are. He has complex health needs as well as learning difficulties, but he is sweet and funny and very despite not talking communicates with us through gesture and sign and just through his huge personality.

Hello, @sparklygem81

Can I please get an update on how your kids are getting on. I have the same issue