Rare Disease: Alström Syndrome

May 17, 2018

We are John and Kay Parkinson, we're the parents of two children who were diagnosed very late with the ultra-rare disease Alström Syndrome.

We had to wait 18 years for Matthew to get the correct diagnosis and that was time lost, time wasted. We lost Matthew at 25, he had had a heart transplant and he was doing so well that the hospital asked John and i if we would go home and get him more clothes because they wanted to start physiotherapy with him and we had been home about three hours and we got a phone call to say that Matthew's heart had stopped and they had whipped him back to surgery.  We then got the call to say unfortunately they hadn't been able to get his heart pumping again. I was halfway there in an ambulance,

Charlotte was 29 and was having dialysis for three years which was horrendous and her heart couldn't cope and she was referred for a heart kidney transplant. Sadly she waited over 2 years, far too long for a condition like Alström and she didn't survive the operation. 

Our biggest breakthrough and hope came with the meeting of Pierre Laurin, the CEO of Prometic. I was asked to go to a meeting with Pierre to discuss Alström and to talk about a drug he had been developing, PBI-4050 which he felt might be able to impact this disease and he wanted to know more about Alstöm syndrome.

We told him about our children and we told him we had lost both of them. I knew that fibrosis was a part because we'd got autopsy results and i was more than happy to send these results to Pierre. The more he talked about the drug the more it resonated with what we had witnessed and i said to Pierre i would get in touch with our team of medical advisors and we could discuss it and hopefully get a trial of his drug.

This was the first time we had any hope from anybody that there was an intervention that might stem the tide of devastation that this disease causes for children. The early results we have been sent from Prometic are really quite astounding. Instead of watching slow and horrifying progression of heart failure and kidney failure and liver deterioration . here from the results we're seeing a drug that was stopping that and actually improving it.

Parents and patients should know that this drug exists, at the moment there are too many barriers preventing that- that pharma cant talk directly to patients, yet with rare and ultra-rare diseases in the majority of cases it is patients and family members who are discovering the drugs that might help their children because they never give up. I know we've lost our children but i suppose in my head i'm still searching for the cure ultimately and you know for my children just to know that you know we never gave up on you and maybe one day we'll know that it's not going to happen to other kids.

PBI-4050 is an investigational drug currently being tested in an open label clinical trial in the UK and not approved for sale.

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