Chantelle Crane Watt

Chantelle Crane Watt − A mother of a Jeunes child.

Harry (Harrison) is the 3rd child and was born undiagnosed with Jeunes in a small hospital in Queensland Australia. The road was long he had the high heart rate and breathing, and he was a terrible colour blue.
They sent us home with him after a week of not knowing and said just enjoy him while you can…

By two weeks he had an obscure head shake that no Neurologist or Metabolic Professor has ever been able to explain. By 4 weeks of age I knew he couldn’t see and it was confirmed − though his vision did come through gradually.

I literally scoured the earth looking for someone to tell me what was wrong with Harry He just became a baby pincushion.

By 8 months he started getting very constant chest infections and becoming more unable to cope.
At 18 months he hit the wall of dread and flatlined, he was resuscitated, he got worse for the next year, when he was in ICU it was noted that his chest x−ray showed how tiny his ribs were, and within a month we were diagnosed by one of the worlds most respected Geneticists Andreas Zenkle. By this time the head shakes suddenly ceased.

Harry is now 4, he is losing what vision he has. It is thought he has a form of Leibers and Retinal Dystrophy and is legally blind (but don’t tell him that).
His speech is delayed, but he is by no measure ‘slow’ he is doing awesome. His chest infection frequency has improved dramatically, although we are now concerned with liver and kidney results and of course his bones. Harry has a serious weight issue that we are still seeking answers too. Lots and lots of speech therapy and OT and Physio, lots of climbing to strengthen the muscles around his wee flat bones and of course letting him catch up on being a little boy.

My heart broke the day Harry was born and then when we finally had a diagnosis, however he has proven this disease can be beaten day by day. I believe that without major surgeries these kids do make way for their bodies to get better with time. But the wait is long and unbearable − I understand that too. I am scared for Harry, I always expect the worst, every day I dread a cold or a runny nose, because it escalates so fast.

There is no plan for these beautiful children who are surviving Jeunes and living at home, and no respite for the mums and dads who live in a genuine fear everyday of noticing every sign of their child becoming unwell and then having to have the ability to keep them breathing until we can get them to help.

It is an uphill battle with GP’s and hospitals because this is a rare disease. It is a struggle to get a plan for school, and resources for their small bones.

Harry is the most amazing person I know − he has never given up, not even when everyone else would have, he is giving life all he has got. I hope one day I can forgive myself for all that Harry has had to endure in his life; I will spend the rest of my life with the guilt I am sure. To My son Harry − Just Breathe. xx