After a rough pregnancy and premature labour at 33 weeks (which they stopped), I felt confident and sure that everything with my new baby would be fine. Jack was finally born at 39 nine weeks after an extremely difficult birth.
He was unresponsive and did not wake to feed. Two days later he was admitted to the Neo Natal Unit for 24 hours of the billy bed due to jaundice. A month and many, many tests later we were allowed to go home. Yay!!
Jack was eight weeks old when we got the devastating news that he had been diagnosed with a very rare genetic disease called Hunter Syndrome. A disease so rare – there are only two living boys in New Zealand today. A disease that would affect our son both physically and mentally, by slowly and painfully shutting down all of his cells, until his little body can no longer cope. There was no cure and nothing we could do, except to give him the best ‘quality of life’ possible, for as long as we had him.
“This was the day our lives changed forever”.
His grandparents left their home and life as they knew it in Hawkes Bay, and moved down to Palmerston North so they could share in caring for Jack in his short life.
Cross between all the numerous home visits with a Developmental Physiotherapist, Speech and Language therapist, Early Intervention Special Education therapist, Child Psychologist, and the hundreds of GP and pediatric visits, stays in Palmerston North Hospital and Starship Children’s hospital, life had been rather traumatic for both Jack and our family.
So far we have done our very best to give Jack ‘quality of life’. We can only treat the symptoms as and when they appear. He was put on medication for constant vomiting from the age of 6 months, given hearing aids at 1 year old, had Carpel Tunnel surgery on both hands when he was 2 years old, grommets inserted, and tonsils and adenoids removed at 3½ years old. He has had several sleep studies done due to sleep apnea, has constant heart scans, eye and hearing exams, orthopedic appointments, and numerous blood tests. Plus much more.
At four years old Jack is doing fairly well, considering what he has endured so far. Now, due to science and research, there is a treatment for Hunter Syndrome in a drug called Elaprase. Enzyme Replacement Therapy (ERT) gives a better quality and quantity of life for children like Jack.
It had been in use and government funded in numerous countries around the world, and when Jack was 6½ years old, after a long hard fight (thanks to LDNZ and government), Jack was given his first infusion on August 19th 2009.
Kirsty now outlines the wonderful improvements they have seen in Jack since he commenced treatment in 2009.
18 months on and our Jack has a new lease of life. He is now out of his wheelchair and running around playing with the other kids. Visiting the hospital for four hours every Wednesday morning for his infusions is a small price to pay when we see his new levels of energy and mobility. He has hardly been sick since beginning his ERT, as well as his liver and spleen volumes reducing considerably. He can now participate in his schools cross country, ride his own bike (all be it without pedals) and climb the school outdoor equipment. He loves to play rough and tumble with his brother and get his hands dirty outside.
We are so, so lucky to have another chance with Jack, and while we know that ERT is not a cure, I live in hope that it will keep him alive and happy long enough to see one.