Family Stories - William

Read the updated version of William's Story on our sister website 'The Information Point for CNM and MTM"

"This is our precious little boy William he is currently 5 and half months old. William was born at the University Hospital of Wales which we are very grateful for, as the teams of specialists here are on hand all the time and they are amazing.

After a very long failed induction, William was born by c-section. We had waited so long to meet our baby boy whilst in theatre we got so excited it was no longer months, weeks, days or hours within minutes we were going to meet him! Well so we thought but our poor boy was very floppy and not breathing he needed ventilating at birth. Those minutes were the worst and longest minutes of our lives. He was taken straight to the neonatal unit all I had seen was a photo that his dad took for me. Stuck in recovery for a further 12 hours was agonising every time a nurse came we were praying they would have our boy with them. Finally got to go down to the neonatal unit to meet him everything was so unreal we couldn't take anything in.

Doctors were confused as William had a head trace on throughout the labour and he had perfect sats. 15 weeks we spent on the unit having lots of different tests lots of different syndromes were mentioned such as prada willy and sotos but everything was negative. Everyone was involved genetics, neurologist, respiratory, physiotherapist, speech and language and of course the neo natal/paediatric consultants.

So Williams symptoms now consisted of hypotonia (floppy), very slight attempt of a suck and swallow, an immature brain pattern from MRI, two insignificant holes to his heart (murmur cleared by 4 months) and undecended testicles. The major problems are because his insides are floppy he has problems breathing, and as he does not swallow often chokes on his own secretions.

He was on the cpap for 13 weeks being weaned off was a rollercoaster of emotions but he was finally weaned off and breathing on his own for 5 weeks he still had regular oral suctioning and fed through a nasal gastric tube but we were able to go home.

After nearly three weeks of being at home William caught a cold and was rushed back in and ventilated for 2 weeks, whist ventilated they decided to do a muscle biopsy we were then told three weeks later that William has myotubular myopathy which came as a great shock. We are still waiting for genetics result.

William is now on the high dependency unit on the NIPPY. He is having a tracheostomy so that we can ventilate him through that and free up his gorgeous face. He has regular chest physio and his days are up and down dependant completely on secretions.

Through all this time william has been a responsive baby and is constantly smiling especially at bath times, he also likes story time and watching dvds, his favourite is micky mouse clubhouse.

We hope one day we can get William home again with us both and his big sister Rhianon who misses him and loves him very much."

William's mum and dad (Adele & Keiron)