On March 21st our worlds were turned upside down and we were given a diagnosis of Juvenile Huntington's Disease ,JHD for our 16 yr old son Toby
About two years ago we started to notice some changes with Toby , his balance , motor skills , his speech and some swallowing problems This led to discussions with our family and with school , which in turn led us to a paediatrician The following day we were at the hospital having MRI scans and assessments and the following week we were at Sydney Children's Hospital to see DR Michelle Farrar , neurologist and DR David Mowat , genetics , for more tests and assessments During the next ten months we had no answers ,he had puzzled everyone and it was a matter of elimination , during this time Toby's symptoms had become worse We were back at SCH in February 2022 for a review and further assessments / lumbar puncture and more blood tests and review with the allied health team In March this year our paediatrician referred us on the the adult world and now have a local team of drs and allied health helping us during this trying time
If you develop symptoms of Huntington's and are diagnosed with the disease before the age of 20, this is known as Juvenile Huntington's disease - sometimes called JHD or Juvenile-onset Huntington's. Juvenile Huntington's is quite rare. Less than 10% of people with the disease will have Juvenile-onset.
This is a degenerative disease with no cure ! Our focus now is to manage Toby's symptoms and keep him safe
Toby is a wonderful kid , he's smart , funny and loves to sing and loves music He loves his family ( even if he says he doesn't !! ) and his dog He loves D & D and Anime and building Lego and he is a happy kid and we will follow his lead We are looking forward to spending as much time with Toby and creating some wonderful memories with our beautiful boy , we love him dearly One thing that he wants to do is go to Disneyland and Universal Studios and so that is what we are going to do !
This cause will allow us to do the extra things, take a day off to spend with him , a family weekend away and create memories for everyone It will also allow us to manage Toby’s needs whatever they may be A wheelchair or new bed or even just some Lego
This , as a family, is the hardest thing we will ever have to do and asking for help is a tough thing to do
We thank everyone from the bottom of our hearts for any donation and look forward to sharing our memories with you all
Please share with all your family and friends ❤️❤️❤️
all the best Holty