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Living with Alström syndrome

Published on 14/01/19 at 12:31pm

Kay Parkinson lived the tragedy of seeing both of her children born with an ultra-rare condition, and the elusiveness of accurate diagnosis. She discusses how her experience has shaped her journey to help others, a journey which eventually saw her become CEO of the Cambridge Rare Disease Network and found Alström Syndrome UK.

Can you tell us about the condition?

Alström syndrome is an ultra-rare disease; it’s autosomal recessive, which means that both parents have to have a copy of the gene, so instead of it being recessive it then becomes dominant. It’s a progressive, life-limiting disease that starts nearly from birth – childhood blindness, hearing loss, type 2 diabetes, heart failure, kidney failure, liver failure – and progresses with each decade that the child survives. It’s horrible.

My children had Alström syndrome. Matthew was 18 when he was diagnosed and Charlotte was 15. They’d had four different diagnoses until they had the right one, which really hindered their treatment or scanning for other symptoms of this condition. Really, the disease was fully developed before anybody knew what they’d got.

Matthew collapsed at 16 with heart failure, but had he been screened, and had they known he had Alström, and had they screened as a baby, he would have been put on heart drugs. The disease would have been managed. There is no cure for the disease, but it can be managed more effectively with the diagnosis because doctors know what to look for.

How did you finally reach a diagnosis?

Really, by sheer persistence. Doctors diagnose the individual components of the disease: the eye doctor recognised the eye condition; the audiologist recognised the hearing loss; the heart specialist diagnosed the heart condition. But nobody looked at him as a whole, or looked to see if there was a syndrome, so you had lots of different doctors who didn’t speak to each other treating bits of the children’s condition, rather than them being treated as a whole person with a recognisable disease.

Why was diagnosis so slow? Was it due to the fact that Alström is an ultra-rare disease or is it down to the way the medical treatment was structured?

I think both come into play. No doubt it’s an ultra-rare disease – most doctors aren’t going to see it in their lifetime – but then again doctors don’t really look for rare diseases and neither are they trained in rare diseases, so they’re not looking for a rare disease per se. It’s also related to the fact that today doctors are highly specialised, so you see individual doctors that specialise in the bits of you that aren’t working properly. But when lots of bits aren’t working properly, it would be helpful if they worked together.

Had you heard of Alström syndrome before the diagnosis?

I’d never heard of Alström before they got the diagnosis. I fundamentally felt that one day we’d find the answer to that puzzle. I couldn’t believe anybody was so unlucky to have all these things happening to their children, so when we finally got the diagnosis it was a huge relief. But then when we got the diagnosis nobody knew anything about the disease anyway – it was a catch 22. We have a name but there were no clinics, no doctors who specialised in it, and there was no information on it.

How did the actual diagnosis come about, and what sources of information did you use to learn about the condition?

The diagnosis came by sheer serendipity in a way, in that children had gotten a false diagnosis. But when Matthew collapsed in heart failure at 16, doctors started to relook at the diagnosis, and they actually thought he had a condition called leibers amarosis, and Charlotte as well. We hadn’t heard that diagnosis for very long before we got a letter through the door saying that there was a doctor at Great Ormond Street looking into leibers amarosis, and would we take the children there. So we took them to Great Ormond Street and the doctor said thank you for coming but your children have not got leibers amarosis, they’ve actually got a very rare condition called Alström Syndrome.

We were also asked to join a patient group with other families known to have the condition. Of the 12 families, seven came back saying that they would join, so we started the first patient group, Alström Syndrome UK, registered as a charity and brought the families to Torbay where I live. After we held that first clinic we could see that the children, even ones with diagnosis, weren’t having all of their symptoms recognised by their doctors. So the following year we invited the doctors along and we did that for several years, bringing the doctors and families together. Finally, in 2007, we applied to the NHS highly specialised services and I got a proper clinical commission for children at Birmingham Children’s Hospital and for adults at the Queen Elizabeth Hospital in Birminghan; to this day there are two specialised clinics so children diagnosed today actually get screened for all the manifestations of Alström syndrome.

In 2013, I started Alström Europe so I’m now connected to doctors all across Europe working with Alström patients. Another serendipitous event occurred when my husband and I went to the World Orphan Drug Conference in Geneva in 2013. We were displaying a poster about Alström, and the symptoms and with the organs, they all become fibrotic. The CEO of a company called Ponetics came up to me and said they’d read the poster and they’ve just developed an antifibrotic drug that they believed would help these children, so we commenced another battle for a clinical trial. The drug is now at Phase 3 in the UK.

Has there been progress in the development of effective treatments?

There’s been progress in the fact that there are clinics, so diagnosis is better and doctors know what test to perform, so life expectancy has increased.  But as for new treatments, really the drugs from Ponetics was one of the first new treatments that we found for them; sadly, the company had had this drug out for some time, but had never heard of Alström because it’s ultra-rare.

How have your personal experiences with Alström infleunced your work as CEO of Cambridge Rare Disease Network?

Hugely. We actually last year held a poster competition for patient groups, and the thinking behind that was that our poster for Alström had resulted in industry seeing it and eventually led to a clinical trial. For our summit for Cambridge Rare Disease Network we always tried to bring industry and patients together, so we had that competition based on our personal experiences to try and raise awareness of these rarer diseases among pharma, in case they had a drug that they thought might help.

Has the internet impacted our collective understanding of rare conditions?

Absolutely. Alström UK only grew because of the web and the internet and people beginning to search themselves. The website brought everyone together as a nuclear space; without that we wouldn’t be where we are today. Social media has also been a great way to get information out.

What changes would you like to see as we move forward?

We need more recognition of rare diseases in the NHS. There needs to be more specialised clinics. Sadly, only a handful of the 8,000 rare diseases have specialised clinics, which means that those families are still traipsing round individual a doctors and multiple appointments. I think it should be mandatory for a rare disease that there should be a clinic somewhere for those families to go to, because then that creates experts in the disease and patients can actually talk to doctors and can actually build up some experience about the disease rather than talking to doctors who’ve never heard of the condition before.

With rare disease, patients tend to be the experts. I still find it tragic that forty years after we had our children families still have to go through the same battles and fights to get information and to find experts in the child’s disease. The tragedy is that these are children that don’t have that time; they don’t have time to be wasted.

What would be the key message you would like people to take away from your story?

I think in 2018 we should have dedicated services for rare diseases. There is the first well-staffed rare disease centre at the children’s hospital in Birmingham, but equally they need to be in every city – I live in Torquay and I’ve had to take really sick children to Birmingham. The sickest people get the worst care. We waited with our children behind people with a broken leg; you sometimes can’t get across that your children have a rare disease and need urgent care, and that’s because there’s no protocol in the NHS.

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