We are a family living in Melbourne, Australia and at the start of 2008, we welcomed our third beautiful child into the world. This is our story...
"My pregnancy was just like the other two except I expected to feel far more movement, given that it was my third. The other difference was that I was carrying so much extra fluid (polyhydramnios), so at 36 weeks, I was admitted to hospital for observation, just in case my waters broke and we had a cord pro-lapse. It was a very boring 2 week wait and at 38 weeks I was induced and delivered our third, divine, little baby boy, George Philip Gibb.
When George arrived, he was completely floppy and not breathing on his own and very purple. Amazingly, I was not that worried, because, the medical team had already warned me of possible reasons for my polyhydramnios such as a TOF and a less likely scenario of neurological issues. However, shortly after delivery, George was intubated and transferred by the Neonatal Emergency Transport Service (NETS) team to the NICU at another hospital where they suspected he had contracted a viral infection or suffered from asphyxiation. It was at this hospital that they decided that the best place for George would be the Royal Children’s Hospital where he could be looked after by the best team of specialists possible. 3 days later, George was transferred again and on his second day at the RCH, extubated and put on cpap.
Lots of possible diagnoses were talked about from Prader Wili, Muscular Dystrophy to Spinal Muscular Atrophy, all of which had pretty grim out looks and our little angel had to undergo a barrage of tests as well as 2 pneumonias. Finally, after most of the tests came back negative, George had a muscle biopsy and 2 weeks later we had our diagnosis - Centronuclear Myopathy. It was a long 12 weeks, before we found out what the future could possibly look like for our darling. It was then also, that we were introduced to A/Prof. Andrew Kornberg, Head of Neurology at the RCH, who was our saving grace and finally was giving us a very positive outlook for George. Since then, George has had a Fundoplication, Gastrostomy and Tracheostomy and has pretty much gone from strength to strength.
We also recently received news that George is not, in fact, x-linked, but rather has the recessive form. We are still to find out exactly which gene is affected.
We are very happy to have found the support of the Myotubular Trust and congratulate Wendy and Anne and their team for their hard work and dedication in trying to find a cure for our precious little boy. We wish them every success and will endeavor to support them in whatever way we can."