A Brief History

Isis was floppy from birth. He could never hold up his head while on his tummy, crawl, walk, run, jump, skip, hop or climb walls and drive us crazy (we were lucky in some ways). He eventually learned to walk at age two and a half with the aid of a walking frame which we were lucky to find in a room of discarded equipment at a local early intervention centre. To this day, at five years of age, he can balance himself enough to walk, but he cannot run, climb, jump, skip, hop, play on the playground, reach things on the floor or get up by himself.

For five years Isis remained a mystery - it felt to us, that he was in the too hard basket. Neurologists, Paediatricians, Gastroenterologists, Cardiologists, General Practitioners, Orthopedics, Speech Therapists, Occupational Therapists, Physio Therapists, Feeding Teams and Surgeons had no idea at all as to what was causing Isis' muscle weakness. A muscle biopsy was taken, with no distinct results; MRI's were performed on his head and neck - things looked fine; And muscle tests were performed with no interesting results. Nick and I were experiencing so much anxiety regarding Isis' health, not only because was he extremely floppy and not reaching any of his motor milestones, but because his eating and drinking was progressively becoming less and less. He appeared to have no appetite whatsoever and wasted away to a mere skeleton, which frightened other young children when they saw him with his shirt off. Doctors did not realise how serious his eating condition was and it was over a year before naso-gastric intervention was finally taken.

Nick and my imaginations were going crazy because no body could give us any information. We were thinking tumours? Tumours? Tumours? None of the doctors agreed because he wasn't showing any signs of having a tumour anywhere. Having been given no helpful information, our imaginations were left idle and frantic. Only once in five years was the word 'Muscular Dystrophy' mentioned to us - and by a social worker of all people. Not knowing what he had, and therefore not knowing what to expect in his future, we dealt with whatever symptoms presented themselves as they presented themselves. This meant hundred of hours of Occupational Therapy, Speech Therapy, Hydrotherapy, physio therapy and many fruitless visits to the feeding team and dietitians.

In addition to all of his motor delays, feeding problems and speech problems, he had many pneumonias from a very early age (three months).
It is only recently that we have discovered that this is because he has an extremely inadequate cough due to his muscle weakness, and when things get too hard, he gives up coughing all together. His respiratory weakness is so serious that he had to be resuscitated while fighting a common virus, the week he turned three. This resuscitation was followed by two and a half weeks in intensive care, on a ventilator that breathed for him (with frequent suctioning to get the secretions that he was too weak to cough up).

It was only by sheer luck that Isis was finally diagnosed. Members on the board of neurology at PMH saw Isis about once a year to have a group brainstorm. Dr Phillipa Lamont happened to see Isis at this particular brain storm in 2006. She had just been at a Medical Convention in Istanbul where Dr Kevin Flanagan spoke about Rigid Spine Muscular Dystrophy. Isis had begun to develop scoliosis and spinal rigidity at age four - at the time of this brainstorm. This discovery set off alarm bells and Dr Lamont mentioned Rigid Spine Muscular Dystrophy. So of course we went researching straight away - on the internet and at the university library. We new instantly that this is what Isis had. He fit it like a glove. We finally knew. We also found out that it was a recessive disease with a 25% chance of inheriting it with each child - and I was eight months pregnant at the time.

It has been confirmed that our daughter Phoenix also has Rigid Spine Muscular Dystrophy and so we begin the sad journey of helping her reach her physical potential and overcoming all the obstacles that come along the way. Her obstacles seem greater than Isis in some ways, as she is so much weaker than he ever was. My heart breaks and then re-breaks before the previous break has had time to mend. It is hard, but they are beautiful, loving children and I would not wish them any other way.
(However, miracles are welcome.)

I know that there are more cases of Rigid Spine Muscular Dystrophy out there - people, both children and adults, who have been on the too hard basket all of their lives, or possibly even mis-diagnosed - who have not received a proper diagnosis because literally no one knows about this disease. Word needs to get out. A gene test can be performed and support can be received from wonderful organisations like the Muscular Dystrophy Association of WA.