In the late 1980s, Jenny Noble’s two young children Hayden and Sarah were diagnosed with Mucolipidosis Type III. Now young adults, they remain the only two people in New Zealand with the rare condition, a slowly progressive Lysosomal Storage Disease that affects many parts of the body.
Jenny Noble says 30 years ago, there was a complete lack of information and support for her family, with no internet, no genetic counselling and nowhere to go for advice.
She’s spent the ensuing decades reaching out to other families in the same boat overseas, researching the condition, jumping through never-ending funding hoops, pushing for treatments to improve her children’s lives, and dealing with medical professionals who never seem to listen.
“Although there is easier access to information now, there is still a huge resistance within the medical field to accept that parents are experts about a particular condition. This in itself creates barriers to care and information sharing,”
She has fought and lobbied consistently over the years for access to services and to simply be kept informed by medical professionals.
“This has been a nightmare for my family, especially when we moved to Tauranga 13 years ago. While the children were in Paediatrics things worked nicely but their care began to unravel once they moved into adult health services.”
Jenny encourages other parents to learn to be the best advocates they possibly can.
“Never accept 'no' from the medical community and always challenge them if what you are told does not sound right,” she recommends. “I have learnt to fight for almost everything my children need.”
Jenny says there is a lack of willingness within the health system to treat her children's disease specifically and not as though they have some other disease.
Other challenges are having to jump through hoops to get the Carer Support Subsidy, disability payments, Funded Family Care and respite care. She says the family has to keep proving Hayden and Sarah need the level of help that they currently receive.
She cites an example of issues with the Needs Assessment Service Co-ordination (NASC) system, where the Ministry of Health works with disabled people and their families to establish their support needs and determine their eligibility for funded services.
“Hayden’s health status has changed: his paraplegia has meant that his bladder is no longer working very well and he has had to have a suprapubic catheter that has meant more of my time and having to add another carer for the mornings.
“The NASC assessed him and because I had already used the word significant they did not believe his health status had changed, even though we went through hospital admissions, infections and all kinds of other things related to his condition. Hayden did not get increased hours and his funding was in fact split. Frustrating and unsatisfactory."
Dealing with Work & Income is another endless challenge.
“This condition does not go away - but every year I have to front up with completed forms to prove that my children still have a rare condition.”
Jenny has a wishlist of things the Government could do to make life better for her family.
“I would like to see all the little bits of funding that we get put into one big package that allows better choice over how we use the funds."
“As for Funded Family Care, I believe this needs to dramatically improve. Being paid a minimum wage is an insult to us as parents and carers. It’s interesting that I am expected to pay support workers above minimum wage but I am not given the same courtesy.
“Carers deserve better respect and acknowledgement of all the things we give up in our lives to keep our young people at home receiving quality care, thus giving them quality of life.”
One thing which has helped is networking with other Mucolipidosis families overseas.
“There are other Lysosomal families in New Zealand whom I can call and have a conversation with or, as we all call it, a rant. To let off steam and know you are talking to someone who understands means the world to me. It enables me to continue as a family carer.”
Jenny and her husband try to get away together at least twice a year.
“As for individual quality time for me, I am afraid that does not happen very often. It is incredibly hard to get good support workers who can step into our shoes.”
The best part of being a carer is seeing her children happy and receiving quality of life.
“If they were in formal care I truly don’t believe the same level of care would be given to them.”
Her advice for other female carers is to become the best advocate you can for your loved one and have fun doing it.
“Doors will open that you can never imagine walking through. Walk through them and challenge yourself. We as carers walk a special journey that not many people can do.”