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.
On July 6, 2008, George finally made it home and has been by our sides ever since and we plan to do everything in our power to make sure he develops to his full potential.
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.
Currently George is part of a government support program which provides funding for in-home care, medical supplies and possible mobility aids. In fact, George has been fitted for a wheel chair and should have it in the near future. We have finally got 2 wonderful carers that help care for George while I do school and kinder runs, shopping etc and life is starting to look a lot more normal and brighter than at the beginning of the year.
George’s progress has been slow but steady. He is on 24hr cpap, but does come off for brief periods in the hope that one day, he may come off altogether. He still requires constant suctioning. George’s movements have improved hugely since birth. He is now rolling from side to side, kicking his legs and reaching out with his arms. The most rewarding part is George’s infectious smile and obviously loving and placid nature. He enjoys his older brothers so much, especially when they are entertaining him with their crazy antics and they equally love him. George is part of a large extended family and very much loved by all. We are also lucky to have many wonderful friends that have provided much love and support during this difficult time. Incredibly, for a little person that cannot speak and has many obvious physical limitations, everyone that meets George, falls in love with his gentle, loving & bright spirit that seems to shine through every bit of adversity and are somehow touched by his life.
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.”