‘Brynley’s condition is so rare, he could be the only person in Wales with it’
WHEN energetic six-year-old Brynley Phelps, described as the life and soul of the party, began walking with a slight stiffness last March, his parents were sure that there was nothing out of the ordinary to worry about.
However, after what was expected to be a routine trip to the doctors, the family from Ebbw Vale had their lives completely turned upside down when Brynley was diagnosed with a rare brain condition known as MLD.
Now, with the incurable condition taking hold, parents Christopher and Lucy are hoping to raise awareness about their son’s disease, as well as raising money for any potential treatments that might become available to him in the future.
A life-limiting condition, MLD, or Metachromatic Leukodystrophy, is a rare hereditary disease caused by an accumulation of fats destroying the protective layer surrounding the nerves in both the central and peripheral nervous system.
Side effects caused by the stifling of the nerves limit a person’s ability to move, swallow, and eventually even breath.
While dad Christopher Phelps, 33, describes receiving the news as one of the most devastating moments of his life, he also says the speed in which the illness has taken hold of his son has shook him to the core.
He said: “Up until the age of five Brynely was a completely normal and healthy child, but then one day back in March last year we noticed he was walking a little bit stiffly and decided to take him to the doctors to get checked.
“We thought he’d hurt himself playing, or that he was just a bit stiff from being stuck inside so much during the lockdown, but we honestly never expected what came next.
“The diagnosis came very quickly after an MRI scan, maybe within six weeks, and when we were told about the condition we literally broke down. I couldn’t believe it was happening and it honestly felt like something you would see on the television and not in real life.
“As a parent you will do anything in your power to take care of your kids, but when the doctor is telling you there’s nothing you can do then it just completely breaks you.
“They say with a condition like MLD there is a life expectancy of five to ten years after diagnosis, and there are currently no treatments outside of symptomatic relief available on the NHS.
“It’s so rare that we think he may be the only person in Wales with the disease at the moment, and with most of the gene therapy treatments that could help still being in the trial phase, we are left praying for a break through every day.
“We have even tried to get him over for one of the trails in Milan, but after a number of tests were told that his condition was too far gone, so it’s been very frustrating and tough on our family at this point.”
While Brynley currently remains active with the aid of a wheelchair where necessary, with no treatment available it is understood that this degenerative condition will begin to limit both his intellectual and motor functions over the coming years.
However with his two siblings and large family around him, they say they plan to support him in having a normal life for as long as possible.
Former store manager Christopher, who left his job to take care of his son full time last year now describes the resilience of his young son as something he is immensely proud of.
“Despite everything he’s gone through with all the trips to the hospital and a worsening of his symptoms, Brynley is still a very happy child who wants to play and do things, and is known to everyone locally as a real sweet-heart,” he said.
“The goal for us is to keep him as
stable and active as possible over the next few years, and keep on praying that some of these trail therapies will become available to him.
“Myself and my wife have both left work to care for him full time now so it is very difficult, but he’s also got his older sister who he’s very close with and that’s helping him a lot as well.
“We live for our kids so trying to keep things as normal as possible for all of them is very important to us, though we are also determined to stand and fight for any future treatments that might help our son.”
Mother Lucy Phelps, 39, is a former school worker and says while she is trying to remain strong for her family, every day is a struggle for her knowing what her youngest son is going through.
She said: “Of course it’s hard to go on as normal when you know what he’s going through, and as I’m sure any parent would understand the last year has been complete hell for us.
“Having this diagnosis come out of nowhere and then seeing your son get worse just breaks your heart, and while we have a very supportive family and friends, there’s nothing anyone can say to make it better.
“We are definitely disappointed that he hasn’t been offered to be part of any of the gene therapy trials yet, as we feel it could be a very effective option for Brynley, though we won’t give up hope.
“We are hearing of new things in the pipe line happening in America in trying to beat MLD, and though this is at a very early stage if it became a successful trial we hope our son could be considered.
“In order to fund this possibility we set up a gofundme page for Brynley in case something does come of it.
“However if that treatment doesn’t come in time, we would use it to to assist with continued travel expenses to and from hospitals, and ultimately try to give him the trip of a lifetime.”