Lack of support a major hurdle when faced with a rare disease

Lack of awareness and support are two of the biggest hurdles faced by consumers and whānau affected by a rare disease, disorder or health condition. This Sunday 28 February is international Rare Disease Day which raises awareness for rare diseases, and calls for improved access to treatment and support for people with rare diseases and their whānau.

Approximately six percent of New Zealanders live with a rare disease, yet awareness and support for those affected can be hard to access.

Mark Rogers, wife Tina and their sons Michael and Carl have experienced this difficulty first hand.

Mark is a member of the Health Quality & Safety Commission’s consumer network. His son Carl lives with a rare disorder called 22q11.2 deletion syndrome; its symptoms vary widely but can include congenital heart defects, specific facial features, frequent ear and respiratory infections, developmental delay, learning difficulties and cleft palate.

Carl, now 17 years old, wasn’t diagnosed with the syndrome until age 14 despite having many health complications as a child. Mark says that knowledge of the syndrome was limited and Carl was treated for each of his health conditions individually, rather than his health care team looking at his diagnoses as a whole.

‘It’s possible Carl’s diagnosis could have been picked up earlier, had knowledge of 22q deletion syndrome been better and someone had connected the dots,’ says Mark.

‘Carl has had various health issues since he was young including congenital heart defects and issues with his kidneys. He has also had surgeries to insert grommets and to strengthen and lengthen his achilles tendons.’

Mark says that access to information and support, particularly in the early days, was difficult.

‘Early on, we struggled to be heard by some of Carl’s health care team. We got lost in the system a lot and spent a lot of time chasing up appointments and follow-up care.’

Mark soon gave up his role in the banking industry to care for Carl full time.

‘We felt frustrated at times because of the lack of resources available to support Carl and our whānau. I was lucky to have been in a position to be able to give up work to care for him, but it has still been incredibly challenging.’

It can be draining on the whole family, mentally, physically and financially Mark says.

The impact on siblings is often forgotten too. They have to develop a great amount of resilience, tolerance and understanding about their sibling’s health condition, often from a young age.

‘We’re proud of how Michael handles the challenges faced by our family. He has sometimes had to take a backseat particularly when Carl has had surgery, which has been hard on him at times. But he isn’t resentful and has always been an incredible big brother to Carl.’

One of the most important things for their whānau was to feel listened to. There were times they didn’t feel heard by Carl’s health care team, but this has now improved.

‘We were referred to a fantastic local paediatrician about five years ago, and Carl’s care has improved hugely as a result. He now has a diagnosis and we are able to connect with the support services our family needs.’

Carl’s developmental delays also mean that attending school has been a challenge. He was non-verbal until after the age of five and the whānau struggled to get access to funding through their school to support them.

‘It can be difficult to understand Carl, so he had speech language therapy from the age of two until after he started school, and his maturity level is lower than that of his peers. Accessing help with that was really difficult because of limited funding available at the school.’

Having a diagnosis for Carl has improved the family’s outlook as they can now talk to families in similar situations and access support through charitable organisations such as the 22q Foundation Australia and New Zealand.

Mark and his whānau would love to see better understanding by medical professionals of 22q deletion syndrome and improved support services.

‘We feel lucky now to have the support of a wonderful community who understand the challenges and triumphs experienced by other families with a diagnosis of 22q deletion.’

They are also keen to encourage others going through similar experiences.

‘Our best advice is just to speak up for yourself and your whānau and take things one step at a time.’

Rare Disease Day is held annually on the last day of February. Find out more about Rare Disease Day on the Rare Disorders New Zealand website: www.raredisorders.org.nz/about-rare-disorders/rare-disease-day/.