Mum’s shock as tot, 2, born with one ‘very large leg’ that’s been growing ‘uncontrollably’ ever since
A LITTLE BOY born with a “very large” leg was diagnosed with a rare mutation that causes it to “grow uncontrollably”.
Axel Horgan, two, was diagnosed with a genetic condition called congenital lipomatous overgrowth (CLOVES) – which cause parts of the body to grow much more quickly than others.
He is one of just 200 people in the world with the condition, which can cause a combination of vascular, skin, spinal, and bone or joint abnormalities.
Axel’s left leg was “very large from birth” and has been growing ever since.
His parents were told he’d likely not live past the age of two or three and never be able to walk, talk, go to the toilet, or eat.
His parents, Eddie, 27, and Sarah, 27, a nurse, say their son has now “proved doctors wrong”.
The tot has defied the odds to take his first steps.
In January 2025, he’ll have both feet amputated so he can live pain-free and he’ll need to learn how to walk with two prosthetics in physiotherapy.
Eddie, a laboratory technician, from Listowel, County Kerry, Ireland, said: “When a child has a rare illness they face two battles.
“One is the illness itself and the other is living in a world where so few people understand what you’re up against.
“We were told to take him home and enjoy him – because he would only have two to three years to live.
“The specialists decided on amputation as they said it would give him increased function and less pain.
“He’s in a lot of pain daily and it is hoped to improve his quality of life.”
DIFFICULT DECISIONS
Sarah says her pregnancy was healthy, and on May 12, 2022, Axel was born at University Hospital Kerry, Ireland – weighing 10lbs 11oz.
He was born with a “port wine stain on his left side” and vascular overgrowths which were “clear to the eye.”
He went through rigorous genetic testing, including skin biopsies, ECGs, MRIs and various blood tests and in July 2022, he was diagnosed with CLOVES.
Sarah said: “I love my boy regardless and I was prepared to do anything, no matter what the test results that would come back he will always be my baby.”
Axel was later hospitalised and required a feeding tube.
He was unable to lie down or sit up without morphine for two weeks.
Doctors have said Axel’s CLOVES has made him more susceptible to certain types of cancer – like Wilm’s tumour.
The tot is is also in pain regularly due to his condition.
In August 2023, Axel was given chemotherapy to try and target his rapidly growing legs, but it didn’t work as doctors hoped.
When the tot was 18 months old, it was decided that amputation would be the best course of action for him, following assessments from his physiotherapist, X-rays and MRIs.
The amputation is planned for next year and Axel will need to learn to walk with prosthetics for the rest of his life.
His parents hope he can live the normal life of a two-year-old afterwards, being able to “walk and play in the playground”, mum Sarah said in a video shared in a GoFundMe.
“He didn’t ask to be born this way and he doesn’t know any different.”
MOUNTING COSTS
Axel currently receives regular physiotherapy and his parents pay £170 per week for it.
But the cost is expected to go up to £320 per week after the surgery.
Eddie said: “Due to the lack of HSE resources, we have had to get private physio and speech and language therapy.
“The support from the GoFundMe has been really helpful to this going forward.
“He will have prosthetics instead – by the time he’s older he won’t know any different.
“He’s such a happy baby and we want him not to have any pain, we’d do anything for him.”
What is condition congenital lipomatous overgrowth (CLOVES)?
CONGENITAL lipomatous overgrowth (CLOVES) is a rare genetic disorder that causes a combination of vascular (involving the blood vessels), skin, spinal, and bone or joint abnormalities.
Fewer than 200 cases of CLOVES syndrome have been identified worldwide to date.
CLOVES is thought to be caused by mutations in a gene called PIK3CA. These mutations arise spontaneously in the womb, while a baby is developing.
Generally, in order to be diagnosed with CLOVES syndrome, a child will have one or more of the following:
- Soft, fatty masses on their torso or trunk (usually on their back, flank, or abdomen)
- Vascular (blood vessel) malformations — most often, a port wine stain birthmark, lymphatic malformation, arteriovenous malformation, or enlarged veins or a combination of these
- Limb abnormalities (typically, wide feet or toes and large or extra fingers or toes)
- Spinal problems (in many cases, scoliosis or tethered spinal cord). The presence of these abnormalities often indicates that a child is more likely to have CLOVES syndrome instead of a similar disorder.
- Skin abnormalities (most often, raised, wart-like bumps called epidermal nevi)
Less common symptoms can include:
- Problems with knee or hip joints
- Kidneys that are unusually small or uneven in size
CLOVES affects each child differently, so their long-term outlook will depends on many factors, including their age at diagnosis – the earlier treatment is started, the better – their symptoms and their overall health.
Source: Boston Children’s Hospital
Axel’s parents live three hours from the nearest children’s hospital and have set up a fundraising page to help pay for expenses.
The fundraiser has received almost £40k which has “shocked” the family.
Eddie said: “We are so amazed by the generosity people have had.
“The community are doing this themselves, they come to us and offer to fundraise for his treatment.
HOPE FOR THE FUTURE
Axel’s mum and dad hope he’ll be able to attend preschool soon.
Eddie said: “Axel is pretty much non-verbal at the moment, as parents we are worried about how other kids will treat him.
“But we will do our best to fill him with confidence and acceptance and that it’s OK to look different.
“We hope people won’t judge a disability by its visibility.”
Sarah said: “We are hopeful for his future, he’s getting the best treatment he needs and deserves, and we are proud of Axel.
“We feel helpless at times but Axel and his brother, Arlo, give us reasons to be grateful, hopeful and happy.”
You can donate to Axel’s GoFundMe here.