Little J’s first six months were relatively trouble free. Yes, there were challenges. A delay in feeding, horrendous colic and an up-all-night refusal to sleep that rivalled my student days. But, all in all, things were pretty normal. He made eye contact, hit his early developmental milestones on target and gained weight as he should. Then, the week that we began to wean him onto solids, everything changed. It started with a little shudder, too subtle to even call it a tremor. But within weeks it had progressed to painful, full body muscle spasms. These were soon accompanied by involuntary movements that were gaining in frequency.
We spent over a month in hospital. There were no answers, just more questions. A common childhood illness picked up on the ward led to a terrifying string of seizures and an unexpected move to the High Dependency Unit. Thankfully our time in hospital has been minimal, but his symptoms have continued to snowball. Currently, at the age of four Little J’s symptoms are:
- Intermittent muscle spasms (paroxysmal dystonia)
- Involuntary movements (dyskinesia)
- Central sleep apnoea
- Global developmental delay
- Slow head growth and low head circumference (acquired microcephaly)
- Low muscle tone
- A ten month pause in growth (failure to thrive)
- Unidentified gastro intestinal pain
- Poor, disrupted sleeping patterns
- History of seizures with illness
- Episodes of regression due to illness or infection
- Episodes of intermittent arm paralysis/loss of tone
He has had many, often invasive tests such as lumbar punctures and a muscle biopsy. As yet, we have no diagnosis or prognosis. We do not know if he will improve over time, remain static, or even regress. It is thought that his condition is caused by a rare genetic syndrome.
Thankfully, after some trial and error, a medication has been found which has significantly reduced his painful muscle spasms and we are very grateful to our neurologist that he is no longer in so much pain.
Life is currently a mix of appointments and a routine of physiotherapy, occupational therapy and speech and language therapy. The daily therapy exercises can take around two hours to complete and as of yet, we have seen very slow developmental progress. But life is also a huge amount of fun. Throughout all of the tests and the challenges Little J has remained our smiley, happy boy.