Written by Maya, Lloyd’s mum
Our journey began when Lloyd was around eight months old. We noticed something ‘wasn’t quite right’ developmentally with Lloyd. He wasn’t sitting by himself, he wasn’t really rolling, he wasn’t interested in food (although he could eat quite well), and he wasn’t interested in toys with the exception of the monkey on his play mat that would play music when you pulled its red ring.
The big red flag I noticed was that Lloyd would not ‘stand’ on anything, not the ground, nor grass, water, carpet, or any other surface I tried to stand him on, not even my lap. This baby just would not touch his feet on the ground and even if we forced him to, he would become miserable. Was he in pain? The maternal child health nurse we saw for his eight month check-up wasn’t too concerned. Lloyd was gaining weight, growing well, extremely happy and didn’t think these missed milestones were an issue unless he was still not sitting at 12 months old.
I had already watched my niece, Skye, complete all these milestones as she is only 11 months older than Lloyd. I wasn’t going to wait another four months to ‘see’ if Lloyd would sit unaided. I took him to my general practitioner (GP) who I had known since I was a baby. I asked for a hip X-ray to rule out hip dysplasia or any other issues. I also asked for a referral to a paediatrician. My GP again wasn’t very concerned but ordered the X-ray for peace of mind. Being a 19 year old mum didn’t help when I tried to be the voice for my child. The X-ray came back clear. No hip dysplasia.
A few weeks later I received a letter that stated Lloyd was on the wait list to see a paediatrician at hospital. The wait would be a minimum of 12 months with the expected wait of closer to 18 months. I wasn’t going to wait. I booked in for a referral to a private paediatrician. This cost $350 for a one hour consultation that came with a small Medicare rebate. Although Brendan and I were working, I had to borrow the money from my 98 year old great grandma. How ridiculous! I felt so embarrassed to ask even though I paid it back.
The day came to see the paediatrician (Lloyd was 16 months old) and I was so overjoyed but so anxious. I was hoping there was a ‘quick fix’ to all of this. Little did I know that this would be a very long journey that continues today. The paediatrician wrote referrals for: audiology (hearing test) paediatrics; cardiology (due to family history); ophthalmology; speech pathology; neurology; a barium swallow test; a general blood test (including iron, white blood cell count etc.) and basic genetic testing including molecular karyotyping and Fragile X. After the initial appointment, Lloyd’s overall summary was that he had a global developmental delay (estimated function between six to eight months old); left eye strabismus; hypotonia (low muscle tone); hypermobility (in joints); and was at risk of swallowing issues and feeding issues.
Over the next six to eight months we saw several specialists. Lloyd also had an MRI ordered by the neurologist. All tests were clear. Including the MRI. What now? I had done everything I could possibly think of and more. Meanwhile, I had applied for the National Disability and Insurance Scheme (NDIS) to get Lloyd the help he needed and I had started privately paying for physiotherapy. We got accepted for the NDIS and Lloyd started seeing occupational and speech therapists. For months I was researching what I could do for Lloyd. There had to be something I could do! I felt absolutely hopeless. The global developmental delay had to be caused by something.
I went to a different GP and asked for a referral for genetic testing, which was my last resort. If we found no answers I would have to believe that a global developmental delay really was causing all of Lloyd’s issues and that there was nothing more that we could do that we weren’t already doing. We got the referral and received a letter saying that the wait would be around six to 12 months. Another wait. Oh, how I was used to this game. We received a call from the genetics reception to get some information and to place us on the cancellation list to try get an earlier appointment. Thank goodness we were placed on the cancellation list! We only waited a matter of weeks before we got an appointment in June 2019! Finally, we attended the appointment and the experience was quite disappointing. The geneticist didn’t feel Lloyd met the criteria to have whole exome sequencing completed. I had spent the entire consultation basically rallying for Lloyd to be a candidate. She agreed to propose Lloyd’s case to the board of geneticists and then get back to me. Lloyd had profile photos and a blood test done just in case. Again, we waited.
Several weeks later, I got a call from the geneticist and she had sent Lloyd’s blood samples off to be tested. I was in shock! I was so happy but also very nervous. Unfortunately, whole exome sequencing takes four to six months to return a result. I spent the next six months researching the many different diagnoses, matching Lloyd to specific gene mutations such as GATAD-2B which is a mutation located on chromosome one and is usually a de novo gene (not inherited by the parents). Six months later (December 2019) we had another appointment at the hospital for the results. I had intended for Brendan to come with us but unfortunately due to work, he couldn’t attend. Lloyd was officially diagnosed with IQSEC2- associated disorder. Unfortunately I knew what this was as I had researched it a little and was aware there were only seven diagnosed cases in Australia. It is a very rare and new diagnosis, even for a geneticist. This basically means Lloyd has a moderate to severe intellectual disability.
With no way knowing of where he lies on that severity scale, Lloyd’s current diagnosis is: IQSEC2 gene mutation; cortical vision impairment; left eye exotropia/strabismus; astigmatisms in both eyes; hypotonia; hypermobility; global developmental delay; and severe pronation of both feet due to hypotonia. Lloyd’s current therapies and interventions include: Vision Australia support; physiotherapy; occupational therapy; speech/feeding therapy; and daycare.
During COVID-19 Lloyd has begun to slowly regress in gross motor skills due to the inability to access fact to face physiotherapy. We are grateful to have telehealth appointments but juggling a 4 month old and Lloyd is difficult to say the least.
Please check the Rare Disease page(s) for related Support Organisation(s)
IQSEC2 Gene Mutation