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Patient Perspectives: Kay Parkinson, Founder and Company Secretary, Rare Disease Nurse Network

Although Kay Parkinson is officially retired, she volunteers at the Rare Disease Nurse Network where she is the Founder and Company Secretary. After a long diagnostic odyssey, Kay’s son and daughter were diagnosed with an ultra-rare genetic syndrome known as Alström Syndrome. Since then, Kay has gone on to set up Alström Syndrome UK and work as CEO at the Cambridge Rare Disease Network. Throughout her career and life, Kay has witnessed the challenges of the rare disease community.

Please note the transcript has been edited for brevity and clarity.

FLG: Hello, everyone, and welcome to the latest interview in the Patient Perspective series. Today, we are going to be joined by Kay Parkinson, who is going to be sharing her story about Alström syndrome and her involvement in the rare disease community as well. So, Kay, if you could just introduce yourself and tell everyone a little about what.

Kay Parkinson: I’m Kay Parkinson. I was the mother of two children who had the ultra-rare disease, Alström syndrome. I founded that charity, and also Alström Europe. We were very successful during my time as CEO there in gaining national specialised commissioning for the service. I was CEO for 15 years there. Then, I was asked to join Cambridge Rare Disease Network and I set them up as charity.

Whilst I was there, I saw that many of the rare diseases lack the services that we developed for Alström syndrome. It really made me realise how inequitable and really sad it is to see how there was no professional, overarching management in this country for rare diseases. It was through my time there that I started to work on the idea that there should be a rare disease nurse network, which would be similar to how Macmillan operates for cancer patients. Because equally, rare disease patients are often as sick if not sicker with life limiting diseases as cancer patients. I am now actually retired, but I am the Founder of the Rare Disease Nurse Network, and I still work as a company secretary and have been very busy this last week writing a grant for them.

FLG: If we just go back to where your rare disease journey began. Both your children, Matthew and Charlotte, were diagnosed with Alström syndrome. For those who don’t know, would you be able to give us a little bit of a background about what that condition is and the symptoms involved as well?

Kay Parkinson: Yeah, so Alström syndrome is a multi-organ disorder. The first signs with my children were their eyesight, they could not tolerate bright lights. They’d really have to screw their eyes up, even on a day like today, which is very, very dull. Their first encounters with the medical profession was with an eye specialist, and for very many years, it was thought just to be an eye condition. But then they started developing other symptoms. They gained weight rapidly. Their hearing, particularly my daughter’s hearing, at a very early age, was very low. At that time, every time we saw a new eye specialist, we got a new diagnosis. So, they thought it was ocular albinism, because Matthew had really blonde hair, but Charlotte didn’t. They thought about three more of those conditions.

It wasn’t actually until my son Matthew collapsed, when he was 16 years old, with heart failure that it was relooked at and the consultant at the time then thought they had a condition called Leber’s amaurosis. Now, quite fortuitously, they hadn’t been diagnosed long with Leber’s when I got a letter through from Great Ormond Street Hospital. There was a consultant there researching Leber’s and asked if I would take the children up there. So, we did, and we hadn’t been in the room long before the consultant said, “Well, it’s not Leber’s but I do know what it is”. She then took me down to her office and she had a chart on the wall of 22 patients that she had been researching. And she said, “I think this is what your children have got. Just look at this chart and see if there’s any resonance”. And there was – it was really like seeing my children’s condition lit up. And she said, “Well, actually, it’s Alström syndrome and your children will be diabetic. And you will need to get them to a diabetic specialist”. In fact, when we did, Charlotte had been diabetic for very many years. School used to tell me she was greedy little girl who used to drink all the water on the dining room table. The school GP had told me off because they were gaining weight rapidly. Although, my husband and I weren’t, and we all had the same diet. She also said that there were many other conditions of which the heart failure, dilated cardiomyopathy, as it was thought to be, is part of that condition.

So really, for us, the diagnosis wasn’t so much of a terror because we’d actually lived the terror. My children had been blue lighted to hospital, collapsing with heart failure, and later kidney failure. So much of their treatment was accident and emergency care, because nobody had known what they had. In fact, when Great Ormond Street diagnosed my children, when I came back home to Devon, the doctors didn’t know anything about it here. In fact, it was a work colleague of mine, her husband was a psychologist, and I told her the condition and he Googled it. I didn’t have a computer at the time, I think only hospital people had. He was very interested because it was a new diagnosis. So, he Googled it, and he found out that there was Alström Syndrome International and it was based at Bar Harbor in the Jackson Laboratory, and they were actually researching this condition. So, we did feel we had a bit of hope then.

FLG: They both were diagnosed in their late teens. What impact did this late diagnosis have on them and also you as a family as a whole?

Kay Parkinson: Well, a late diagnosis is devastating because their heart condition had gone untreated. The diabetes had gone untreated. So, treatable conditions had been left to their worst possible state. For both Matthew and Charlotte, it meant their only hope was a heart transplant, and in Charlotte’s case, she needed a heart and kidney transplant. And because of huge waiting lists, neither got them in time. So, Matthew lived a week after his heart transplant, and Charlotte actually didn’t survive the surgery. So, to be diagnosed so late was a huge cost to the NHS because both needed transplant surgery and a huge personal cost because we lost both children.

FLG: What made you then want to go and set up Alström Syndrome UK and what was that journey like for you as well?

Kay Parkinson: I was just actually qualifying as a lawyer as a mature student and instead of going off into a solicitor’s office, I decided I’d start a charity for the children. I was lucky that the consultant who diagnosed my children at Great Ormond Street kindly wrote to the other families that she knew and asked them if they wanted to join a support group. We ran it quite ad hoc at the time as a local hotel where we met, and we got the doctors who worked with my children to come and meet more children. So, they were gaining experience.

Then, I found out that there was this highly specialised commissioning service, and I was advised that we could apply for that. So, we did together with the doctors we were working with, and the commissioning service agreed to set up the national specialised commissioning service which was then in Torbay for adults and at the Birmingham Children’s Hospital for children. But they didn’t want to fund the charity. And, of course, having been a lawyer, I knew they couldn’t take my 15 years work and my database, and just use it without involving us as a charity. I had a big meeting then with the Department of Health who were very concerned that I might take them to court. I actually was going to take them for a judicial review on their decision making. And so, they actually funded the charity as an equal partner in the national commissioning service. I believe it was the first charity to be included in a tripartite arrangement. But really, that indicates to you the level of professionalism and expertise you need to get that service. Because had I not been trained as a lawyer, I would not have known how to go about it, or what to do. So that’s probably why most rare diseases don’t have a national specialised commissioning service.

FLG: What other things did you learn during your time at Alström Syndrome UK?

Kay Parkinson: Well, I learned that rare diseases are very insular. You are looking at your own rare disease, you’re not looking at the wider picture. There’s a huge lack of research because you don’t have enough patients. It’s very difficult to find the people who are interested, you end up with a few doctors. We were lucky that the national specialised commissioning meant that at least the hospitals we worked with were developing a specialism.

It wasn’t really until I worked at Cambridge Rare Disease Network as their CEO, that it really hit me at just how unfair the system was for patients with rare diseases. You’ve got some of the sickest people in our society, really left to support groups. That’s then dependent on who’s running that support group, how educated they are and their knowledge of systems to get their particular support group recognised. That seems crazy that the sickest people are left to parents in the main, who often run these support groups.

FLG: Could you expand more on your time at Cambridge Rare Disease Network and how you got involved there as well?

Kay Parkinson: I was asked to join Cambridge Rare Disease Network because of the work we’d done for Alström Syndrome UK. I had actually done a talk about how my husband had set up Alström Syndrome UK, so I was then approached to see if I would set up the Cambridge Rare Disease Network, which was a very exciting challenge. Because hopefully, you’re getting and reaching more rare diseases and you can create networks of professionals and industry who have the potential to actually develop research projects and provide services. But really, more and more what struck me, was the fact that we’re all going to need support groups all of the time, their work is invaluable. But what rare diseases desperately need is a professional, overarching service that is continuous and funded, part of the NHS, because the support group help is sporadic and depends on whether it can get funding and it depends very much on who’s running it. 

I think it’s desperately unfair that there’s no overarching professional service for rare diseases. So, I was actually retiring, and I told Cambridge that I would do three years for them before I retired, which is what I did. It’s since I’ve retired that I’ve been working on the Rare Disease Nurse Network in a voluntary capacity. We just put in an application for charitable status. I’m hoping that we are successful in actually infiltrating the NHS and gaining a professional nurse service that is available for all people with rare diseases, not just whether or not you’ve got a support group, or how good that group is.

FLG: Would you be able to go over some of the main aims of the Rare Disease Nurse Network and what the plans are (apart from infiltrating the NHS)?

Kay Parkinson: Absolutely. We just teamed up with Cognitant who have developed Healthinnote. So really, a nurse can have the information about any rare disease at their fingertips, not only for themselves, but that information can be given to the patient. So straight away, if I go back to my own personal circumstances, if I and the physicians working with my children had had that kind of information available to them, it would have meant their condition would have been better managed. Now, most rare diseases still are untreatable, but they are manageable, and by being properly managed, that can improve quality of care, improve quality of life, and can often prevent these devastating major surgeries like transplants, amputations. So, I think the fact we are working straight away with the Rare Disease Nurse Network with technology will mean that once we are national, we have a service that everyone can access immediately.

FLG: Since your children’s diagnosis, how do you feel things have changed in terms of treatment and management of this particular condition?

Kay Parkinson: Well, quite clearly for Alström syndrome, they’ve changed considerably for having no information and nobody knowing about it. There’s been dedicated clinics now since 2008. So, the adults are dealt with at Birmingham, Queen Elizabeth Hospital, and the children are still at the Children’s Hospital. So, they have developed expertise and knowledge about it. But when you have a CEO role that deals with every rare condition, you just realise how inequitable that is, and question why is that not available for everybody? Just because one mother who trained as a lawyer knew how to get through the system doesn’t mean that it shouldn’t be there way for everybody. It’s grossly unfair that one condition has got highly specialised commissioning. We’ve got hospitals who deal with those patients on a regular basis and see them, and you can have another rare condition still back where we were travelling doctor to doctor who never talked to each other, dealing with every individual component part of the disease and not holistically.

FLG: How do you think we could potentially reach equity in this in this area?

Kay Parkinson: You won’t reach equity until you have an NHS in-house professional service. In fact, if we look at the national framework for rare diseases it pinpoints the lack of coordinated care within rare diseases. That is appalling! You have parents dealing with the sickest children in our society having a system that itself recognises lack of coordinated care as a problem. That has been the same for the 40 years that I’ve been working in rare diseases. It’s not a joined-up service. It’s not recognised professionally. Dreadful!

FLG: What are your hopes for the future?

Kay Parkinson: Our hope is that the Rare Disease Nurse Network is commissioned one day by the national commissioning team, and that every person who’s diagnosed with a rare disease or every parent whose child is diagnosed with a rare disease, has access to information and coordinated care. Therefore, they’re not going to have to endure lack of treatments or unnecessary treatments because things haven’t been treated properly.

FLG: Thank you so much Kay for sharing your story and I’m excited to see how the Rare Disease Nurse Network continues as well.

Kay Parkinson: Thank you!