Autiemum and Max: Our rare story

Jazz is part of the SWAN UK community, SWAN stands for syndrome without a name, a condition so rare that it doesn’t have a name. In this blog she talks about her son, Max who lives with an undiagnosed condition.

I’m Jazz (also known as Autiemum) and I am a SEND blogger and author from Cheshire. I’m mum to a 6-year-old little boy called Max who has complex needs. His diagnoses include microcephaly, autism, moderate learning disability, hypermobility, dysphagia and hypotonia. His overall condition has always been assumed to be of genetic origin but all genetic testing thus far has yielded no answers. However, this year he was diagnosed with oculocutaneous albinism with associated visual impairments which is a rare genetic disorder in itself, and so we are hoping this new diagnosis will shed more light on Max’s overall condition and help us plan for the future.

I think the hardest part of having a child with a rare condition is the lack of answers and the time it takes to obtain diagnoses. With my pregnancy with Max, there were no obvious issues besides the fact he was measuring slightly small on scans. The labour was induced when I was 5 days past my due date because a scan had showed a lack of amniotic fluid around Max. He was born not breathing but required minimal intervention with this and was soon pink and screaming the place down. He was born with snow white hair and whilst I recovering, the midwives took him around the ward to show everyone his hair. At this moment in time, albinism wasn’t mentioned and we had no inkling that our son was disabled in any way. 

The first few weeks and months of Max’s life were difficult. He suffered with jaundice that required several hospital admissions as well as severe reflux and episodes of not breathing. He was also a very floppy baby and struggled to hold his own head up and tolerate tummy time. 

Still, at this point as first-time parents, we didn’t suspect anything was amiss. As Max grew, we noticed he wasn’t doing things other children his age were doing. For example, he couldn’t sit up unaided until he was nearly 1 year old and couldn’t crawl until he was nearly 18 months old etc. He just seemed quite delayed in all areas but we put it down to him just being lazy. 

When it came time for his 2-year health visitor check, we were advised that he was severely delayed in all aspects of his development and would require referrals for suspected autism and global development delay. That day we’d gone from having what we thought was a perfectly healthy but lazy little boy to a child who was significantly delayed and required speech and language input, physiotherapy, occupational therapy, genetic testing and everything else that came into play when we were thrust into the world of SEND parenting. 

We managed to wrap our heads around the unexpected turn our parenting journey had taken by reminding ourselves that as long as Max is happy and healthy then that’s all that matters. However, then he started to not be healthy. 

He started having seizures when poorly and was admitted to hospital multiple times. He couldn’t tolerate an EEG even when sedated because of his autism and learning disabilities so we had to “watch and wait” which is so hard to do as a parent because you just want to find out what’s wrong with your child so you can fix it. Around this time he was also diagnosed with microcephaly which means his skull is smaller than it should be and muscle issues (hypotonia and hypermobility) meaning he needed to use a buggy as walking was painful and always ended in a fall. 

As he got older, more diagnoses crept in and we were referred to a geneticist as all of Max’s professionals were convinced he had a rare genetic condition that had caused all of his conditions. The geneticist took one look at Max and said she was 99% sure he had a genetic condition and that Whole Genome Sequencing would get us an answer – it didn’t. We were told our little boy was too rare for current science but that they would keep his DNA on file for retesting every 2 years. 

It was a bitter pill to swallow having no answer because we’d spent so long trying to come to terms with our child’s disabilities and the fact he had a rare genetic condition to then not be able to find out exactly what condition that was. Also, we’d seen over the years just how quickly things can change in terms of new symptoms and diagnoses and were hoping that an overall diagnosis would help us plan for the future. 

So, we finally accepted that our little boy had a condition that was so rare it couldn’t be diagnosed when a optometrist mentioned he was concerned about Max’s declining eyesight and referred him to an ophthalmologist. The ophthalmologist carried out lots of tests and asked us if we’d ever heard of albinism and we said that it was something we’d always joked about with Max being so blonde but not anything we ever thought he actually had. 

The ophthalmologist diagnosed Max with Oculocutaneous Albinism and explained that it is a rare genetic condition. Finally we had an answer, even though it was only a partial one. Whilst we didn’t know what Max’s overall genetic condition was, we finally had confirmation that he actually had one in the first place and that albinism was part of that condition. The doctor also told us that Max’s geneticist could now re-examine Max’s DNA to find out his exact sub-type of albinism and also check his DNA against conditions known to cause albinism to see if any of them are a match.  

Don’t get me wrong, we didn’t come out of that appointment skipping with joy because at the end of the day, our child was still given a life-changing diagnosis but it helped knowing that genetics was the reason for Max’s disabilities as opposed to my pregnancy etc. 

So that brings us to now where we are still waiting to hear back from Max’s geneticist about re-testing his DNA with his albinism diagnosis in mind. We’re also still processing the albinism diagnosis and trying to come to terms with it and what our future will look like which is very difficult when you have a child with a rare condition because it feels like there aren’t any other families in your situation. I’ve tried a few Facebook groups but haven’t found anyone yet that I can connect with who also has a child with albinism and I think that’s also a tricky thing with having a child with a rare condition; its lonely. Nobody really understands exactly how you’re feeling or what your situation is and that can be quite isolating. 

Thankfully I’ve found being part of the SWAN UK community really helpful in this regard as all parents on there are also in limbo of having children with rare and undiagnosed conditions so it makes this journey a little less scary. 

And that’s our story in a nutshell, just waiting for test results or new diagnoses and trying to keep our boy as happy and healthy as possible. 


Jazz (@Autiemumandmax)