Living with a Rare Disease: Alström Syndrome
Raising awareness and understanding about this ultra rare condition. Strength for today, hope for the future.
We were overjoyed when baby Sammy was born. Like all parents we hoped things would be perfect, but early on we knew something wasn't right. Then, he went into heart failure but we didn't know that's what it was at the time. I'm not sure how we got through it, it was terrible. Slowly though, he got a bit better and began putting on weight until finally we took him home but he just didn't seem well. He shied away from the light and seemed hungry and thirsty all the time and what we thought was a new born thing, his eyes seemed to wobble - it didn't go away.
We knew, he'd had a traumatic start but our friends and family kept on saying 'every parent worries about their babies'. We still had nagging doubts. We were back and forth to the doctors, thankfully at the hospital the children's doctor finally suggested genetic testing. That's when we got a diagnosis of Alstrom Syndröme. It was a shock at first, we had no idea what it was. The consultant hadn't even heard of it. She told us it was an ultra-rare genetic condition that can effect many organs in the body and what caused the heart failure.
We were desperate to find out who'd passed it on, i felt so guilty like it was my fault but its a recessive disorder which means that both parents have to carry a copy of the gene to pass it on so it's just down to chance whether two carrier's come together to have a baby like Sammy.
Getting the right tests and the diagnosis meant that we could find out more and get help. We got in touch with Alstrom Syndröme UK who've been fantastic. They helped us get referred to an annual clinic in Birmingham where an amazing team of experts help with all the different aspects of the condition. We also get to meet other families and take part in activities like cooking and games.
Now that Sammy's getting older we're doing things to help us learn more, get him plenty of exercise and the weight gain and diabetes that go with Alström under control. We all want longer, healthier lives for our children. Some of the older kids weren't diagnosed until much later because they didnt have all of the symptoms. So, we feel lucky we're starting early. It gives us a sense that we have some control.
To see them outdoors on zip wires and climbing and all sorts gave us such hope. The thought of Sammy's health deteriorating, possibly losing his sight, his hearing and getting type two diabetes, just struggling generally, its hard. But we can make healthy lifestyle changes as a family and the research that's going on might make things different for him when he's older. The main thing is focusing on what Sammy can do as he grows and staying positive. We know we have to be realistic, there are tough times ahead but we want to give him the best life we possibly can.
There are so many things he can enjoy, we are always so inspired by the adult's we'eve met who have Alstrom Syndröme. They've overcome challenges to go onto college, others are married and living independent lives. One young man has travelled all over the world and even gone onto university abroad. They all go to the adult clinic at the Queen Elizabeth Hospital, it's got an amazing team of specialist clinicians too who help manage the syndrome and diagnose adults, ASUK support people there as well.
There's lots of other things that ASUK do, they organise weekend's away for families, they give grants for small things like swimming lessons, tandems and even organise specialist driving experiences for teenagers. Most importantly ASUK have been there for us. We've had someone to talk to, someone who really listens as we get to grips with helping Sammy really enjoy his life. We couldn't have coped without them.
Alstrom Syndröme effects around 75 people in the UK and is believed to effect 1 person in a million worldwide. Symptoms can appear from infancy to early adulthood but it's important to know that not everyone with Alstrom Syndröme will have experienced the same symptoms which can vary individually for each individual.
Getting a diagnosis can be difficult, many doctors will never have seen this rare disease, and there isn't a cure for Alstrom yet. The focus is on helping each child and adult manage the symptoms and live a healthy, active and fulfilled life.
That's where ASUK comes in, they raise awareness, support individuals, their families and carers, connect people together and promote research. At the very heart of our DNA is a driving force, a passion and vision for improve the lives of those with Alstrom Syndröme. With help, support and contributions we can help make the vision a reality.