Jamison Stam’s doctors gave him no life expectancy when he was born in May 2017 because of a severe genetic disorder. Now at one year old, Jamison has defied the odds, though he has to undergo weekly bleach baths for his extremely dry skin.
What is the rare genetic disorder that is harlequin ichthyosis?
Jamison Defies The Odds
When he was born, Jamison was not expected to survive because of a severe genetic disorder that rendered his skin to be very thick, scaly, and unable to fend off harmful bacteria. A year after the grim outlook on his survival, Jamison is still kicking, and he is defying the odds thanks to his family’s dedication.
However, to protect his skin from potentially harmful infections, Jamison’s parents have to give him 45-minute bleach baths two times a week, wherein they use exfoliating mitts and sandpaper rags to scrub off his excess skin. The baths are very painful for Jamison, and he has to take morphine to endure the pain.
A GoFundMe page was created for Jamison so that the family can attend a conference where they can connect with other parents of children with the rare disorder and so that they can purchase a nano bubbler, which would help exfoliate Jamison’s skin using oxygen-filled bubbles instead of the bleach treatment.
Harlequin Ichthyosis
Harlequin ichthyosis is a severe and rare genetic disorder that primarily affects the skin. Babies born with the condition have thick, hard skin that forms diamond-shaped plates separated by deep cracks. This affects the shape of the eyes, ears, nose, and mouth of the patient and makes arm and leg movements rather restricted. Sometimes, the restricted chest movements may also cause breathing problems and respiratory failure.
The disorder affects the skin’s protective properties and makes it difficult for the patient to regulate body temperature, control water loss, and fight off infections. In fact, many infants born with the disorder experience dehydration and severe infection in the first weeks of their life.
Harlequin ichthyosis is caused by mutations in the ABCA12 gene, which is responsible for creating the protein that’s essential for the proper development of the skin. In some cases, the mutations prevent the gene from creating the ABCA12 protein, while in others, the protein made is abnormally small and therefore cannot transport the lipids properly.
Incidences of harlequin ichthyosis are very rare, so the exact number of occurrences is unclear, but it is said that the disease affects about one in 500,000 people. In the past, it was rather rare for infants born with the disorder to survive, but more patients have better chances of living into their adolescence, thanks to intensive care and advancements in treatment.
