Written by Maya,
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;
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.