Hello
I wrote a great long post in response the other day....and lost it!
This one might be a bit shorter!!
Years ago when ds was about 10 months old, I started a thread called something like 'The Rocky Road to a diagnosis' - there were a small group of us whose children had all had difficulties since birth, and were going through testing and trying to set up support. It really helped me at a time when I felt very alone in it all.
No one believed there was anything wrong with ds until he was 9/10 months old and then it became very apparent that he was not following a typical path of development- he couldn't sit, crawl, roll, had head lag, didn't play, didn't babble, couldn't eat, screamed with awful reflux and rarely slept. To me his hands and feet looked odd, his fave looked slightly different to his sisters, he had a tiny ear pit, his tongue was odd.... things that niggled suddenly became hugely significant when professionals started listening to us.
Ds had MRIs, Blood tests, we met with neurologists, geneticists, paediatrician, physios, SALTs...I told about a million people what his birth was like (terrible), all our concerns, all the things ds didn't do. It was fucking horrible and scary (he was tested for some life limiting and degenerative diseases) and also a huge relief - because finally someone was listening.
The geneticist decided that ds 's issues were as a result of a genetic condition, it was then a case of which one...she described this as trying to find a spelling mistake in a book in the British library. First tests were for the easy to test and most obvious candidates and the most scary ones. Everything came back negative, the geneticist warned us this could take years, and some adults still don't have a diagnosis.
When ds was 4 he was put into 2 studies, one in Holland for a condition he had lots of markers for and one called the DDD study (Deciphering Developmental Delay - this study closed.... Still no results. At 7 He was put into another study, the 100,000 genome project (still open). Then when he was 8 his geneticist called us and said to come in. In all honesty we had given up hope of a diagnosis. The DDD study showed that d's has a very rare genetic condition. She told us to look the other parents up on Facebook, or start a group - there are about 70 children worldwide.
I know children still in the group I started on here and in real life who still have no diagnosis, some with quite profound disabilities. Being undiagnosed is far more common than people realise. There is a group called SWAN (syndromes without a name) who have a very active Facebook group.
Despite no diagnosis until 8, ds has had a lot of input from professionals - portage (the best thing ever), DLA from age 1, 1-1 funding at preschool, EHCP at school, a place in a Complex Needs Resource Base. Since a diagnosis things have been easier, even though support is supposed to be needs based. It was like finally having a torch after years of being in a fairly murky room. I have also found families who have children very similar to ds, and contacted the Dr after whom the condition is named. For some friends getting a diagnosis made little difference - they are almost unique in their genetic mutation and so they have a series of numbers that give them the glitch but otherwise nothing has changed.
The most important thing is accessing the support that your ds needs. Make a note of when everything happens (I have a timeline!). Make up a "passport" - a one page profile that lists any difficulties your child may have, any medications and important professionals. Get portage as soon as old enough (Google portage and local area). Go to baby groups if you can, do not be afraid of seeing other babies develop differently....your baby may be on a different path, but it will still be a journey filled with wonder. Find things that engage your baby....water, lights, messy play, singing. Learn some Makaton (your child may have no speech difficulties....but signing is fantastic if they do...and fantastic if they don't!)