My name is Sue. Seven years ago my daughter gave birth to twins. They were delivered eight weeks early. A boy and a girl. Will and Isla. Isla weighed just over 3lb and Will weighed 2lb.
Isla was strong and healthy for such a small baby but Will had problems. He was floppy and his respiratory function was very weak. He was finally diagnosed with x-linked myotubular myopathy. This is a devastating disease carried by the females in the family but manifesting in the boys. We discovered that the range of the symptoms is huge and we were told that Will was 99% poorly. This diagnosis brought home to me the reason I had lost two boys but had successfully given birth to three beautiful girls. After investigations all three of my girls are carriers of the myotubular gene.
We rallied. We are a strong family. We watched Will struggle daily with the effects of this devastating condition. He was loved so much. He spent so much of his life in hospital fighting infections. We lost Will a month before his third birthday.
As a family we have always helped raise money to support The Myotubular Trust and continue to do so. The work these small charities do is huge and it is so important we get the word out about these dreadful conditions which are unknown by so very many, as the condition is not only rare but has a name which is so hard to remember. The work Toni is doing to bring recognition to these conditions is huge too. Continue to spread the word please, only then can research continue in the hope of eradicating centronuclear and x-linked myotubular myopathy.
I have a sunflower garden every year for Will and will support Toni in everything she does.