The first day of school can be daunting, but four-year-old Alfie King’s parents are determined that his will be a positive experience.
They are equally determined that nothing, especially his rare genetic condition will hold him back.
Born with a distinctive birthmark from head to toe down his right side, it wasn’t until a year later that Alfie was diagnosed with Klippel-Trenaunay syndrome.
Named after two French doctors who first described the condition, Klippel-Trenaunay presents itself in three main symptoms - overgrowth in one or more limbs, known as limb hypertrophy, port-wine stain birthmarks, and abnormal blood vessels. While there is some debate on exactly how rare the condition is, the number of those displaying all three symptoms like Alfie is estimated to be in the region of 1 in 45,000.
Yet throughout the many appointments with genetics experts, orthopaedic doctors, laser therapists and lymphatic specialists, the Grantham family have maintained a positive outlook. Moreover the optimism of his parents Larissa and Mark, has rubbed off on Alfie, who proudly calls his birthmark ‘my superhero pattern’.
“He’s very proud of it - he loves it,” says mum Larissa. “If anyone asks him about it he just says, ‘It doesn’t hurt. That’s my pretty pattern, or that’s my superhero pattern’”.
Over the years laser treatment has dramatically reduced Alfie’s birthmark. “When he was born it was that dark it was almost black,” remembers dad Mark. “People naturally look. And we know that they’re thinking, ‘what’s with that boy’.”
Larissa agrees: “People stare and to be fair if someone’s got something different it’s a natural instinct to stare, but I do think people sometimes wonder what it is - they think ‘is it a burn, or is it a rash’ and we just want people to understand what it is.”
Anyone who meets Alfie can see that the condition is not stopping him from being a happy and active four-year-old, who loves to take on the role of his favourite superheroes - Spiderman, Superman, the Hulk or Iron Man. When he is not busy saving the world, he likes taking on other roles singing and dancing as part of local drama group New Youth Theatre. He’s been in Peter Pan, Bugsy Malone, Little Mermaid and High School Musical, with Annie also coming up in November.
Alfie’s ongoing treatment is all aimed at limiting the potential impacts of Klippel-Trenaunay in the future. “He has to have a left shoe raise because his right leg is 2cm thicker and longer on the affected leg, and without it he could have problems with his back and alignment,” explains Larissa. “They’re going to do CT growth scans on his birthday for the next two years to predict how much longer it will become. If it grows a lot more - about 4cm more - they might look at lengthening the left leg. When he’s had his first growth spurt, probably at the age of about 12, they could stunt the growth in the right leg, but because of all the prominent veins and vessels there’s a risk in doing that.”
Those with the condition can also suffer from leg ulcers, blood clots and severe pain, but the family are relieved that so far Aflie hasn’t experienced these complications.
“We’ve just got to keep our eye on it and keeping monitoring it. There are lots of different types of this. Probably no two people with it are the same,” says Larissa.
For them the next big step is in September, when Alfie starts at Little Gonerby School after finishing at Stepping Stones nursery. “Obviously the children at nursery have grown up with him and they all adore him. He’s the popular one, all the girls want to marry him! He’s brilliant with it. I just don’t want anyone to knock his confidence when he goes to school, but I think because we’re so positive and he’s so positive, I’m hoping that it will be just ‘oh, that’s a really cool thing’”.
It’s helped that the family have done all they can to research the condition. This has even led them to take part in a ground-breaking clinical trial at the University of Cambridge, which is currently developing medication to alleviate the symptoms of Klippel-Trenaunay and other similar conditions known collectively as segmental overgrowth disorders.
Led by Dr Victoria Parker and Dr Robert Semple, the trial follows on from their research which in 2012 identified through DNA sequencing that such overgrowth is caused by a faulty gene known as PIK3CA. This is not inherited from parents, nor passed on to children, but is a genetic mutation which occurs during the early stages of pregnancy.
On the advice of their genetics doctor, on July 17 the family went to Cambridge where they discussed with Dr Parker Alfie’s medical history, before a DXA scan measured how much extra tissue there is in his right leg compared to his left.
“I thought we should go for it because it could help Alfie and others,” said Larissa, “We just want to do everything we can to help.”
Thanks to participants like Alfie, researchers have identified medication that can reduce the overgrowth. Dr Parker explains: “In some cases we have done a small skin biopsy, taking around two to four millimetres from the affected tissue under local anaesthetic. By then taking that sample and growing it, we have been able to examine the cells and how they are affected by different treatments.
She adds: “If this trial is successful, which it’s looking like it will be, then potentially we could be looking at making tablets available to pharmacies by the end of next year.”
Larissa said: “Previously we’ve been told that he’d have to have an operation at the age of 12 or 13, and that still might be the case, but to know that medication could be available in two to three years is just a weight off my shoulders.”