Meet Joseph and Faith. They were born with the rare disease Congenital Ichthyosiform Erythroderma.
It is one type of a condition known as Ichthyosis. Ichthyosis is a family of genetic skin disorders characterized by thick, dry and scaling skin. There are many types of ichthyosis and each type ranges in severity. Joseph and Faith were each born with a colloidal membrane, a very thick layer of skin that essentially looked like a very tight wet suit. No one in the NICU knew what Joseph had and we received several confusing and terrifying “diagnoses” before finding out it was ichthyosis. We were left nearly entirely on our own to learn about the disease, discover treatments and navigate the sometimes frightening and often infuriating world of advocating for a special needs child. This “aloneness” is what I believe to be the core of being rare.
For Joseph and Faith, ichthyosis means thick scaling of their skin due to an extremely rapid rate of skin growth. The skin grows so quickly, it layers up and can become very dry, cracked and often bleeds and is at risk of infection. Every skin cell in their body is affected. They burn on average close to 1,000 additional calories a day producing skin, which must be made up for by supplementing their diets.
They are at risk of dehydration because they do not sweat naturally. They overheat very quickly which can be dangerous. They must apply lotions and creams throughout the day to stay moisturized and prevent skin breakage. They use oils, creams, lotions, emollients, acids and baking soda in every imaginable combination. The condition makes them look a bit unusual with white scaly skin, very wrinkled and scaled hands, and thick scales on their scalp. Faith has had several spells of Alopecia.
Ichthyosis is a physical and social lifelong condition. Strangers often stare, make offensive remarks, and ask rude questions. Some have accused me of burning my children or of keeping a dirty home. Together as a family, we are learning to rise above the ignorance and focus on advocacy. There is no cure for ichthyosis, only treatments and the treatments are by no means universal. What works for one child, might not work at all for another. It’s a bit of a shape shifter!
We are grateful for FIRST (the Foundation for Ichthyosis and Related Skin Types). They are the only organization of its kind in the United States dedicated to researching a cure and helping families living with and affected by ichthyosis. Without them, we would have stumbled alone for a long time. We are also extremely grateful to the Global Genes Project and Fund for supporting the Rare community.