A BOY who was born with a “very big” leg has been diagnosed with a rare mutation that causes it to “grow uncontrollably”.
Two-year-old Axel Horgan was diagnosed with a genetic condition called congenital lipomatous overgrowth (BLACKS) – which causes parts of the body to grow much faster than others.
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He is one of 200 people in the world with the disease, which can cause a combination of vascular, skin, spinal and bone or joint abnormalities.
Axel’s left leg was “very big from birth” and has been growing ever since.
His parents were told he probably wouldn’t live past two or three years old and would never be able to walk, talk, go to the bathroom or eat.
His parents, Eddie, 27, and Sarah, 27, a nurse, say their son has now “proved the doctors wrong”.
The little one defied the odds to make his first steps.
In January 2025, he will have both feet amputated to live without pain and will need to learn to walk with two prostheses in physiotherapy.
Eddie, a laboratory technician from Listowel, County Kerry, Ireland, said: “When a child has a rare disease they face two battles.
“One is the illness itself and the other is living in a world where so few people understand what you are going through.
“We were told to take him home and enjoy him – because he only had two or three years to live.
“The experts decided on amputation because they said it would give him greater function and less pain.
“He is in a lot of pain daily and is expected 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 10 pounds, 11 ounces.
He was born with a “port wine stain on the left side” and vascular growths that were “clear to see.”
He underwent rigorous genetic testing, including skin biopsies, ECGs, MRIs, and multiple blood tests, and in July 2022, he was diagnosed with CLOVES.
Sarah said: “I love my son no matter what and I was prepared to do anything, no matter what the test results were, he will always be my baby.”
Axel was later hospitalized and needed a feeding tube.
He was unable to lie down or sit up without morphine for two weeks.
Doctors said Axel’s CLOVES made him more susceptible to certain types of cancer – like Wilm’s tumor.
The little one also experiences pain regularly due to his condition.
In August 2023, Axel received chemotherapy to try target his legs were growing quickly, but it didn’t work out as the doctors had hoped.
When the little one turned 18 months old, it was decided that amputation would be the best option for him, after evaluations by the physiotherapist, x-rays and MRIs.
Amputation is scheduled 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 child, being able to “walk and play in the playground”, said mother Sarah, in a video shared on social media. GoFundMe.
“He didn’t ask to be born this way and he doesn’t know any different.”
ASSEMBLY COSTS
Axel currently has regular physiotherapy and his parents pay £170 a week for it.
But the cost is expected to rise to £320 a week after the surgery.
Eddie said: “Due to a lack of SMS resources we have had to hire private physiotherapy and speech and language therapy.
“The support from GoFundMe has been very helpful in this advancement.
“Instead he will wear prosthetics – when he is older he won’t know any different.
“He is such a happy baby and we want him to not be in any pain, we would do anything for him.”
What is the condition of congenital lipomatous overgrowth (BLACKS)?
Congenital lipomatous overgrowth (BLACKS) is a rare genetic disease that causes a combination of vascular (involving blood vessels), skin, spinal, and bone or joint anomalies.
Fewer than 200 cases of CLOVES syndrome have been identified worldwide to date.
CLOVES is believed to be caused by mutations in a gene called PIK3CA. These mutations arise spontaneously in the womb while the baby is developing.
Generally, to be diagnosed with CLOVES syndrome, a child will have one or more of the following:
- Soft, fatty masses on the torso or trunk (usually the back, sides, or abdomen)
- Vascular (blood vessel) malformations – most often a port wine stain birthmark, lymphatic malformation, arteriovenous malformation or dilated veins or a combination of these
- Limb abnormalities (typically wide feet or toes and large or extra toes)
- Spine 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 rather than a similar disorder.
- Skin abnormalities (most often wart-like bumps called epidermal nevi)
Less common symptoms may include:
- Knee or hip joint problems
- Kidneys that are abnormally small or irregular in size
CLOVES affects each child differently, so your long-term outlook will depend on many factors, including your age at diagnosis – the earlier treatment is started, the better – your symptoms and your 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 the costs.
The fundraiser received almost £40,000, which “shocked” the family.
Eddie said: “We are so overwhelmed by how generous people have been.
“The community is doing it themselves, they come to us and offer to raise funds for his treatment.
HOPE FOR THE FUTURE
Axel’s mom and dad hope he can attend preschool soon.
Eddie said: “Axel is largely non-verbal at the moment, as parents we are worried about how other children will treat him.
“But we will do our best to fill you with confidence and acceptance and that it’s okay to look different.
“We hope people don’t judge a disability by its visibility.”
Sarah said: “We are hopeful for your futurehe is getting the best treatment he needs and deserves, and we are proud of Axel.
“Sometimes we feel helpless, but Axel and his brother, Arlo, give us reasons to be grateful, hopeful and happy.”
You can donate to Axel’s GoFundMe here.
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This story originally appeared on The-sun.com read the full story
