Amelie can only be described as an excitable young lady, who radiates love. Even though she’s now 16 years old and has the occasional hormonal outburst, she generally loves life and everyone around her.
I knew that something wasn’t right when I was pregnant with Amelie but nothing that was evident enough to cause concern to any medical professional. Her delivery was unremarkable, however the niggle I had never went away.
Fast forward a little and each milestone that you are expecting them to meet and eagerly anticipate didn’t happen quite when expected.
Amelie’s older brother Zackory was super quick at everything. He sat at 4 1/2 months and walked at 9 months old. Obviously, you can’t compare, as two children will never be the same, but something was different! Intuition is a wonderful thing!
Fast forward a little more and still, she didn’t smile until 12 weeks old, was quite floppy, still wasn’t even attempting to sit at 7 months. She had her developmental check with the Health Visitor at 8 months and failed it. Re tested at 9 months and still failed it. Thank god my Health visitor knew there was also something wrong and listened to my concerns and got a referral to the local paediatrician.
First appointment with the paediatrician, he confirmed that Amelie was developmentally delayed and was going to explore the reason why this may be.
Eventually, bloods were taken, and MRI scan was carried out, referrals to physio therapist and occupational therapist and finally geneticist.
We were in the system and I thought we’d have an answer pretty quick as to why or how this happened.
The MRI showed a reduction in white matter, but no one really had an explanation as to what this really meant. Several genetic tests were carried out, but nothing was conclusive. Some symptoms she displayed made the Drs think it could be Angelman’s syndrome and some years later Cohen’s syndrome. However, they were also inconclusive.
At age 3 1/2 she went to an amazing special educational needs school, where she is at currently. All the services we needed were under one roof and they helped us no end and still do to this day. Amelie would go to school 365 days a year if she could.
As the years went on, still everything for Amelie was delayed. She eventually sat up at a year old, walked at 2 1/2 but still required lots of support. Communication was a big issue and she was non-verbal for many years.
Communication is still her biggest issue and at 16 years of age she still only manages 3-4 words that even some days we struggle to understand. I believe she understands more than she can verbalise, but it takes people that know her well to really know what she wants and needs.
She has always displayed excitable behaviour as well as anxiety. Her fears of things that were unfamiliar, hospitals, dentists, loud noises, men with beards even at one stage became very apparent especially as she got older.
As well as her developmental delay and communication difficulties, she is hypermobile, has a mild kyphosis, a high arched palate with overcrowding of teeth, has had a few episodes of fainting/seizure like episodes, frequent infections and viral illnesses (although somewhat improved in latter years), an overly sociable and excitable personality and an unusual body shape with central obesity.
March 2018 I had a phone call from Amelie’s geneticist who said he had some results from the deciphering developmental disorders (DDD) project. I’d given up hope from this study as we’d joined it approximately 8 years before and had thought it had finished with no results from it. He said that a mutation had occurred on the DDX3X gene and that was the explanation for her disability.
I was shocked that after 15 years of searching, we finally had an answer, just to know the why’s and how’s. It didn’t change anything with Amelie as she’s just Amelie but to know that I hadn’t done anything wrong that could have prevented it during my pregnancy (although I lived like a nun during it) and that James and I were not carriers of anything that we’d passed on and also would not affect our son also having children with the same condition.
When people asked why she was how she was, I could only tell them that I didn’t know but it was likely an un-diagnosed genetic condition. Now I have an explanation that makes life much easier when explaining things. Even down to filling in forms.
The geneticist put me in touch with the rare chromosome organisation as he had as much knowledge on it as I did at this point!
I read the information and it was like putting all the pieces of the puzzle together and finishing it. Practically everything I read fit with Amelie. I joined the Facebook groups where I have learnt from those that really know…. other parents and the Drs that have taken a special interest in it.
Although DDX3X children have a wide spectrum of symptoms and disabilities/health needs, I see so much similarity, especially facial similarities of the younger children compared to when Amelie was young.
I am so pleased to have found an answer to all my questions and the support from all the other lovely DDX3X families.
Join our Facebook Group
Join the DDX3X Registry
Contribute to research into this rare condition.