Philippa's story

My mother and I both have rare diseases and have vastly different experiences in dealing with the health system. I was diagnosed with Hydrocephalus in the early 1970s thanks to an observant Plunket nurse. My sister was also diagnosed with Hydrocephlus at birth three years later. My parents were told not to have any more children, and there wasn't any advice or assistance available, so they just got on with things. Luckily, neither my sister nor I suffered any brain damage, though we have both required several surgeries over our lifetimes.

I was diagnosed with Addison's Disease in 2004 after having been severely unwell for a couple of months. I have an excellent GP who had spoken to an endocrinologist friend about me, and that led to my diagnosis. I was admitted via the Emergency Department at Wellington hospital that night, and have received excellent maintenance care ever since, with my endocrinologist available via email, and annual check-ups.

At the time I was also diagnosed with Hypothryoidism. Annual blood tests identified I had developed Pernicious Anaemia a few years later. Finally, in September 2019 I started experiencing severe nausea. My GP and endocrinologist worked together to order a series of blood tests, ultrasounds, x-rays and finally a CT scan, and on Christmas Eve 2019 I was diagnosed with pulmonary Sarcoidosis. I had further tests in January to rule out any heart involvement, and have had six-monthly follow-ups ever since. I strongly feel that I have been very lucky in that I have a GP and an endocrinologist who are invested in my care. I have the knowledge and resources to also advocate for myself. All of my various specialists are able to communicate with each other when necessary. I live a full and healthy life.

My mother, on the other hand, lives in Stratford, in South Taranaki. Her story is very different. In her 50s she was diagnosed with type-2 diabetes, having previously been diagnosed with Hypothyroidism. Due to the speed at which her diabetes progressed, and the short period of time before she became insulin dependent, we believe her diabetes has an autoimmune component, although we have not been able to discuss this with anyone. The endocrinologist at that very first appointment was incredibly rude and dismissive, to the point that the nurses recommended we lay a complaint.

Due to the GP shortage in Taranaki, Mum has been able to access adequate primary care, or access to specialist care. Blood tests are not ordered, or not acted on, appointments are hard to get, and she generally feels her GP does not listen to her. Her blood tests seem to indicate a level of kidney failure, however, she has not been advised of this.

Later in her 50s Mum was diagnosed with GPA (formerly known as Wegener's Granulomatosis). To Taranaki Base Hospital's credit, she was diagnosed quite quickly, and her initial care and chemotherapy was very good. It was only after she went into remission that the wheels effectively fell off. There was no communication between her GP, endocrinologist, or rheumatologist. She was not able to get an appointment with an ENT specialist or with Plastics, despite the fact her condition has destroyed her nose (collapsing her septum), and her sinuses. She has constant infections due to the damage. She did eventually manage to get hearing aids, which the family paid for, however, they are not adequate and she still has great difficulty hearing, a factor that her doctors do not take into account when they interact with her. Most of the time she simply cannot hear what they are saying to her.

Mum also has extremely poor vision, which we believe to be related as she did have eye involvement with her GPA. She has gone from someone who was at the local gym so often the owners used to leave her in charge, to someone who finds it difficult to walk down the road. Cataract surgery on one eye does not seem to have helped, and she has had no further advice on what options she has regarding assistance.

Mum has had constant severe head pain for over a decade. At one point it was thought she might have another vascular condition in her temple - she was given steroids before a biopsy was taken, so the biopsy was inconclusive. Nothing more came of it. She spends a lot of time lying down to cope with the pain. Recently, she broke her wrist, and the orthopaedic specialist happened to see an x-ray of her neck that was taken some years earlier. Apparently, her neck vertabrae were in an extremely bad condition but again, nothing had been done to address the problem. They are now so deteriorated that operating would be extremely risky. It is likely that the neck issues are contributing to her pain, but we just don't know.

About five years ago Mum suddenly became very confused and suffered sudden blindness. She was taken to hospital, where it was thought her GPA had returned and was affecting her brain. At some point during the night she had a seizure and fell out of bed. She was found still in seizure on the floor. She was given an anti-seizure drug, then taken to intensive care, where we are told she was given another dose. This overdosed her. She stopped breathing and had to be intubated. She was in a coma for several days and took over a week to regain complete consciousness. We have never had an apology, nor been informed of any investigation. She was then told that the rheumotologist no longer thought her issues were caused by GPA, but that she may have been having small strokes. Again, nothing came of this.

It feels that someone like Mum, with complex medical needs, involving multiple specialists, and living in a small town, has little hope of ever having a comprehensive care plan put in place. Her hospital discharge notes always detail a litany of issues, but no one wants to step up and help her. It feels like she has been written off, and that her only option now is to suffer in pain until she dies. She has understandably become very depressed.

It doesn't need to be like this for people like Mum. Adequate GP care, and a care plan developed through the collaboration of all of her specialists, could have meant that her issues were addressed holistically, and promptly. The current system does not feel compassionate or caring. I am sure each medical professional she has seen is trying their best, however, they are not funded, or enabled to act in their patients' interests. This absolutely needs to change.