it’s not rare to have a rare disease

My volunteering life is about rare disease; I know the stats, I know some of the people. When I have brain power, a significant portion of it goes to scheming and plotting and connecting and advocating and talking about rare disease. It’s not an abstract, it’s the reality of people’s lives. It’s the kick in the gut when we see a family on a flight, on their  way back from Great Ormond Street, or we spot the specialist wheelchair in the shopping centre. It’s the reiteration of experience when we listen to people tell their stories, which could be ours. It’s the blow when there’s another diagnosis of something complex or terminal. It’s the shock when we lose one, however predictable that loss.

We lost one tonight.

My Uncle Paddy. With Olive for over 60 years, father to the Incredible Singing Cousins, grandfather to The Next Generation. A kind, gentle, and much loved man.

He had Progressive Supranuclear Palsy, the rare neurological condition that killed his sister, my mother Herself, and a family friend, Kathleen. Three people from the same parish, all connected, all with the same rare condition which is difficult to diagnose, and for which there is no treatment or cure.

I can rant about many things. I can talk sensibly about rare disease issues. But, it seems, not tonight. Tonight, I’ve run out of all the words I use. Tonight, I miss my people. Tonight , I grieve with my people.


PSP- a long story

Part of the volunteering I do is talking about Progressive Supranuclear Palsy, the rare neurological condition my late mum had. Below is the text of the first talk I gave, a few months after she died. Some days, and today is one of those, the full force of it comes back to hit me. Today I am licking my wounds; tomorrow I’ll plough on with the current world, and walk beside the families dealing with PSP right now.

This is a story of my mum, Ann, and our PSP experience. While this is an individual story, you’ll find traces of many of the points raised today; delayed diagnosis, lack of local specialist support, rare disease not rare care needs, systemic problems and the ongoing education of health professionals by families.

Ann was widowed at 50, lived in Spain for a while, came back to Omagh, worked and got remarried. By 60, she had grandchildren, a happy home life and would drive to Belfast on a whim to get her hair done, to babysit, or to bring one of her elder siblings for hospital appointments. She was very active; playing golf and indoor bowls, attending set dancing and yoga.

favourite Ma

Ann had a few unexplained falls, resulting in black eyes, cuts and bruises. She didn’t feel dizzy- she just fell. These falls were unpredictable and she stopped going to yoga and dancing after falling in public and becoming increasingly self conscious. She got prisms on her glasses to deal with double vision in Jan 05, and stopped driving. Ann saw her GP regularly, but talked about dry skin, or constipation, or anything at all to avoid mentioning the falling. I was talking to my mum a couple of times a week on the phone and began to notice that her speech was a bit funny- as if she’d had too much wine with her meal, or had got new false teeth. Except she didn’t wear false teeth, and hardly ever drank wine. Eventually, I realised that she’d never told the GP about her series of falls (this, even though one fall had broken her ankle requiring surgery and 2 weeks in hospital).

I went with her to the GP in July 06, and helped her outline our concerns about the falling, the speech and the double vision. Blood tests were carried out and a referral to the elderly care consultant was made. He ordered a CT scan, and then made referral to a neurologist. In parallel, the orthoptists were realising that the continuing deterioration of her eye movement was probably caused by something neurological, and would need to be checked out.

By the time Ann saw a neurologist in Jan 07, she was desperate for a label. Something to call whatever was wrong with her. Once she had a label, then she’d get the medicine and all would be well. She’d not be a hypochondriac if she had a label. People would take her seriously if only there was a name for this.

She had an MRI and saw the neurologist, but still had no label. We had never considered the possibility that her condition may be difficult to diagnose. We were new to the world of neurology and had no frame of reference, no experience to build on. We fully expected a process of get diagnosis, get treatment, get better. We were baffled by the absence of an immediate diagnosis and treatment plan. Ann went to see another neurologist privately in June 07. By this stage her symptoms included unsteadiness/staggering, memory and concentration difficulties, difficulty getting up from sitting and with handwriting. We were told that she had a progressive condition (we had to check what that meant) and given the label ‘Progressive Supranuclear Palsy’. I drove us back to my house, and put on the kettle and the computer at the same time. By the time the coffee was ready I had to lie to Ann and tell her I’d only found heavy medical jargon, and would look again later.


family, 1991The GP knew no more than we did, telling us to look it up on the internet. I’d already done that and then was in the unwelcome situation of having to give my mum some of that information- as if I knew anything!

Anything I did know I’d printed out from the PSP Association website. I copied this information to my mum’s brothers and sisters and to her close friends. This meant that she didn’t have to keep explaining her diagnosis, and that those who care for her knew as much as we did. We joined the Association and were quickly contacted by them. The staff of PSPA have been an incredible support. They became our first port of call for queries and concerns; the availability of support at the end of a phone has been invaluable.

Ann was referred to social services, and in order to provide the best care, so was her husband, Liam, by now diagnosed with Alzheimer’s Disease. The social worker organised meals on wheels and carers were provided to help Ann get up and washed and to get to bed. After some months, this was increased to 5 visits per day. The support was needed and very welcome, but still didn’t meet all the needs.

Neither Ann nor Liam was fully able to recognise all the challenges facing them, and it felt like the home situation was very precariously balanced. We were just waiting on a crisis. There was an eldercare neck alarm, adapted bathroom, wheelchair, grips and other OT aids, riser chair, door buzzer- the full works. All of these things are great, but nowhere near enough on their own. When Ann took a notion to wander down to the bathroom herself, then she’d just go. Reckless behaviour, simply not recognising the reality of the situation or seeing the potential for danger, is part and parcel of PSP. We had multiple hospital visits for head wounds, stitches and x-rays. We ended up teasing Ann about having a rubber head that just bounced, and avoided serious injury.

Ma, balancing

Liam was involved in an accident and was in hospital for some weeks. I moved in until respite care was sorted, and I was exhausted! Despite the array of carers, Liam was still doing an amazing amount for Ann, and he’s an elderly man with significant health issues. I’m over 30 years younger and I was struggling after only a few days.

Ann went into a nursing home in her local area. We realised very quickly that the quality of care there was significantly better than anything we could organise for the home environment. Ann visibly relaxed, so we recognised just how really tense and anxious she had been. However, once Liam was fit to go home again, Ann wanted home too. We had a really difficult period where basically I became the villain of the piece, insisting that she stay in nursing care. Of course, she could have moved out if she’d been convinced, I couldn’t keep her there! Ann was always content with the care and with the nursing home, but she didn’t like the idea of being in a nursing home at 66. Who would? Soon, Ann was unable to do anything for herself. She needed help eating, moving, personal care. She couldn’t use a phone or a remote control, and couldn’t lift anything from a surface without knocking over everything else.

We arranged for Ann to use the Door2Door service to travel to the family home 4 afternoons a week, and paid for a carer to be there for 3 hours at a time. She had a few falls in the nursing home, like when she decided to get out of the wheelchair for something, so we got an alarm for the chair. At one point the nurse wheeled her round with him, as the best way to keep her supervised. Being very sociable, she enjoyed that.

Ann had a PEG tube for feeding inserted, requiring 2 nights in hospital. We were fortunate that it was a local hospital, so she didn’t have a long way to travel, and could still have visitors, but she found being in a ward, away from carers who knew her and her condition, to be distressing. Within a few weeks of having the PEG, Ann was much brighter, her speech was stronger, and she could articulate more complex sentences- when I was ending a phone call with ‘Be good’ she responded ‘I don’t often get the opportunity to be anything other than good’, when I was expecting a simple grunt! As her condition progressed, she lost that, but it shows how much of herself was still there.

Due to limited eye movement, Ann’s vision became very poor, her eyes were almost closed, and she had difficulty tolerating light. 2 carers would take her for walks along the corridor, but she was in the wheelchair the rest of the time. She was unable to open her jaw, which also created challenges for her oral health. Her speech became more and more difficult to understand, but that never stopped her communicating with us. When there was something to be said, we knew about it! I still phoned several times a week, but couldn’t understand anything she said- we needed to be together for that to work- but she could understand me alright, and wanted to be kept up to date on all the news and gossip. Her processing slowed- as if she were a few sentences behind you in conversation- so we had to pause and give her time to catch up. She was always keen to know what was going on, to spend time just being with people, to enjoy time with the grandchildren, to be part of family life. From time to time her thinking was confused and she had delusions, but generally she was sharp, knew what was going on and was able to convey her feelings about it.


PSP is a very individual disease- each person experiences symptoms in a different combination or in a different order- his/her own cocktail. Symptoms progress at different rates. The detail of an individual’s deterioration is unpredictable, and presents all sorts of challenges for care, support and management. But deteriorate they will, and they will need support.

Health professionals may never have met a person with PSP. This adds to the difficulties in getting appropriate and timely treatment. When Ann has fallen out of a ‘list’ and needed treatment, we’ve had to ask and ask for re-referral to e.g. occupational or speech therapy. Although I wasn’t a full time carer, and lived 75 miles away, Ann’s care took a remarkable amount of my time and energy. There was always something to be chased up, queries to be made, buses, carers, doctors or therapists to be phoned. Any change in arrangements required about 5 phone calls- not only to transport providers and carers, but to Liam and to his sisters, because he wouldn’t remember the call. Also, because of Ann’s inability to write, I’d had to be given Power of Attorney to deal with the finances and so paid all the bills, dealt with pension providers, benefits, banks etc. My diary was full of peripheral tasks associated with my mother- shopping, house maintenance, form filling, or even getting new lights for the Christmas tree. I found out where to stay in Enniskillen, where to get pizza in Omagh, where the cash machines are. These tasks are not hands on personal care, but they are the boring things that need done by somebody when there’s illness in the family. Nothing about these is rare. Because Ann’s disease was rare, I had a supply of PSP information packs which I left with medical staff in wards, in waiting areas and health centres. I left contact details for the specialist nurse and the website address. I talked about PSP to anybody who would listen.

stylish girls
stylish girls

In June 2011, Ann was still going to her own house when she was fit, but now needed two carers to be there. The OT began to have concerns about her travelling by bus or taxi in a wheelchair. She had a few low weeks where she was in bed a lot and barely able to communicate. She had emergency hospital admissions due to chest infections and subsequent difficulty breathing. Medical staff weren’t familiar with her condition, which caused them concern. They were happy for us to be in the hospital almost full time, even when her condition was improving. Antibiotics worked for a while and Ann was in good spirits about returning to the nursing home-she was delighted to be back amongst people who knew her and cared for her, the people who had saved her life- and, of course, she was looking forward to me getting her some new clothes.

I bought the clothes, but she never saw them. Ann died in hospital in July, of pneumonia. She was comfortable and pain free; that’s as much as we can hope for with PSP.



just google it

Doing an internet search for information is common place. Many of us watch TV with the smartphone to hand to check social media or to find out where that actor appeared before. We search online multiple times a day, for directions, recipes, news or gossip. We search for health information too.

When my mum first got her diagnosis of Progressive Supranuclear Palsy in 2007, health information wasn’t quite as widespread as it is now. We came back from the clinic- while she put on the kettle I switched on the computer. The first thing I found was wordy and technical, but even a glance at the words was enough to know something nasty was afoot. I turned off the computer, drank the coffee and left her to the bus.

She could still get a bus then. Walk a few steps to the car, get into and out of the seat, walk easily to the correct spot in the bus depot, climb steps, show her ticket, walk along the narrow aisle and get into another seat. From this distance, such mundane actions are remarkable. My fiercely independent mum eventually lost all such abilities, and many more. That quick glance at the computer screen had set off warning flares in my mind, but I didn’t yet know.

favourite Ma

Further searching, without a hovering mother, brought other information. Vision and cognitive problems. Falls. Potential loss of  speech, swallow, balance, mobility, continence and any ability to communicate.  Progressive Supranuclear Palsy is a devastating diagnosis, for the patient and her family. There is no treatment and no cure, just an ever creeping paralysis. The internet told me all those things before we went to visit my mum’s GP.

He’d got a letter from the specialist (who’d given us the 3 words and no other information). “Ah,” said the GP, “I don’t know anything about it. You may just google it.”

He didn’t suggest that we pull our chairs round his screen and  search together. He didn’t suggest that he research or chat to the neurologist and get back to us. But it didn’t feel like he was giving us the power. It felt like he was washing his hands of us.

Without knowing anything about Progressive Supranuclear Palsy, he left my mum to find out the implications of her diagnosis for herself. He didn’t know that I’d got information that I couldn’t bring myself to tell her. We were relying on him to be a guide, a support, an interpreter between us and the world of progressive neurological conditions.

And he never was any of those things. He was meant to be the key person in coordinating her care (2 speech therapists, occupational therapist, physiotherapist, dietician, several eye specialists, 2 neurologists, the feeding tube surgeon, the social worker, the domiciliary care provider, eventually a nursing home, many emergency admissions due to falls, the palliative care team) but he never seemed interested.

He may well be overworked. He may well be terrified of the unknown. But, for us, he was the person we had to keep chasing. The person who never darkened the nursing home door until her final week.  We referred to him as Dr Useless, so much so that the Brother had to phone me from the council office where he’d gone to register our mother’s death, “What is Dr Useless’s real name?”

The man who thought it was ok for a patient with a serious neurological illness to ‘just google it’ to find out anything at all. The man who didn’t think of what the impact might be. An experienced GP who didn’t pause at ‘Progressive’, or see the terrified mother and daughter before him.

Yep, turns out I’m still angry.