Coffin-Lowry Syndrome

There are multiple trials and tribulations affiliated with growing up and raising a child can be challenging at the best of times. However, for Tony and Karen, the magnitude of the challenge was heightened upon receiving the news that their child David has Coffin-Lowry Syndrome.

What is Coffin-Lowry Syndrome?

Coffin-Lowry Syndrome is a rare genetic disorder which causes problems commonly affiliated with growth abnormalities, cardiac problems, audio and visual impairments, and kyphoscoliosis (a deformity of the spine).

What Effect Does Coffin-Lowry Syndrome Have?

Coffin-Lowry Syndrome is a condition that has a profound impact on how a person lives their life.

In the case of thirty-two-year-old David, his life has been impacted significantly by the condition, as explained by his Mother Karen:

“David is thirty-two, but he has the mental age of a four-year-old or a five-year-old. He doesn’t read or write, can understand only small sentences, and can no longer walk; it’s a complex condition.”

Is Coffin-Lowry Syndrome Hereditary?

Coffin-Lowry Syndrome is a hereditary condition, i.e. the condition can be passed down the bloodline within a family.

In the case of Karen, there was a 50% chance of her child having the condition, with a 50% chance of a boy having the condition, and a 50% chance of a girl being a carrier:

“It’s been proven to me since I’ve had my children that I’ve carried it on to them. I have a daughter, and she has a mild form in a general sense, but it’s a stronger form than a girl would ordinarily have. With every pregnancy that I’ve had, there’s been a 50% chance that the child would have Coffin-Lowry Syndrome.”

David’s sister has the condition, and if she has children in the future, there will be a 50% probability that the child will be born with the condition because she has been born as a carrier.

What Support Has Right at Home Provided?

David’s parents’ have cared for their son themselves for the vast majority of his life. However, after being hospitalised earlier this year, his condition has since worsened and he is now reliant on a ventilation machine every evening. The developments surrounding David’s wellbeing prompted his family to re-evaluate the care options being implemented in a bid to alleviate some of the pressure:

“Our social worker contacted Right at Home and asked if we could get some assistance because it was getting harder for us to care for David in the morning.”

Since receiving the request for support, the Right at Home team has since played a role in making life better for both David and his support network at home. The care team shower and clothe David, make his bed for him in the morning and assists when the time comes to get him into the car.

Coffin-Lowry Syndrome: First-Hand Advice

It’s been estimated by doctors that Coffin-Lowry Syndrome affects approximately one in forty to fifty-thousand people. While the condition is rare, others will have to live a life whereby they’re caring for a loved one who has been affected; for Karen, the best way to live with the condition is clear:

“It’s hard to put into words what we’ve been through and what we’ve had to deal with down the years. In many ways, it’s hard to give advice, as such, but what I would say is be sure to get support in as soon as possible – it will make your life so much easier.

We’d been offered help previously, but we’d always refused it, and in all honesty, I suppose we were stubborn. We thought we had a way of doing things, but now I wish we’d have got help sooner.”

If a member of your family or a close friend has Coffin-Lowry syndrome and would benefit from support from our highly trained care team, Right at Home would be delighted to help. For more information please call 0161 7910934.