Skye Good, a 13-year-old from Hereford with a rare lifelong genetic condition, has climbed Mount Snowdon to raise funds for Birmingham Children's Hospital, the facility that has monitored her health since she was three. The challenge, completed on August 24, has so far raised £530 for the hospital through a GoFundMe page launched for the climb.
A rare diagnosis and lifelong monitoring
Skye was diagnosed with an inherited SDHD gene mutation, known as succinate dehydrogenase complex, subunit D, at the age of three. According to her mother, Carla Good, the mutation occurs when cells in the body "do not make the correct proteins," leading to a condition called hereditary paraganglioma-pheochromocytoma syndrome.
This condition causes head and neck paragangliomas, which are growths that form in nerves near the ears, neck, or carotid artery. Carla told BirminghamLive that these growths are "usually non-cancerous, but they can grow large or cause local pressure." The condition also carries a "small potential" for pheochromocytomas, or adrenal gland tumours, as well as other forms of cancer.
Care from Birmingham Children's Hospital
Skye has received care from Birmingham Children's Hospital since she was 10 years old. Her care includes yearly checkups for any lumps, regular blood tests, and MRI scans when needed. Carla explained that the family feels nervous about the possibility of lumps being detected, but emphasised the importance of the hospital's support.
"For us, it's just constantly being a bit nervous if a lump comes up or Skye says she can feel a lump," Carla said. "But on the other hand, I suppose she's very lucky in the fact that she's going to be so well screened, they'll pick anything up straight away. In that sense, it's a relief to know she's going to be so well cared for and looked after in life."
Giving back through the Snowdon climb
Skye, who aspires to be a detective, noted that one downside of her condition is missing school or social events for hospital visits. However, she said Birmingham Children's Hospital "means a lot" to her, as without their support, she would not know anything about her condition.
In light of the care she receives, Skye decided to climb Mount Snowdon with her family to give back to the hospital. She said: "I've been under their care since I was three years old, and I wanted to make sure kids also under their care for more serious illnesses also got had a chance to get the treatment that I got, because sometimes they don't have enough money to. I wanted to give more money so they have it."
The GoFundMe page, launched for Skye's climb, remains active for donations. Having completed the challenge on August 24, the teen has so far raised £530 for Birmingham Children's Hospital.
