Eileen U. - Valparaiso, IN - 2024
After discovering the Foundation for Ichthyosis and Related Skin Types in high school, I gained a new perspective that truly changed my life. By reading the various FIRST stories, I had a sense of belonging and comfort for the very first time. However, a skin story that stood out to me the most was about a girl who had Chanarin-Dorfman syndrome (CDS), a rare combination of ARCI-lamellar ichthyosis and nonalcoholic fatty liver disease. Witnessing her mental strength left a lasting impression, as managing a single condition can already significantly impact a patient's life. Coincidentally, I later discovered that I too had CDS when my distant relative,
who was unaware of having CDS, advised me to undergo lab tests at the age of 16.
Reflecting on my relative's journey, I realized the importance of early awareness when he only discovered he had CDS when facing the need for a liver transplant. His lack of knowledge about the condition led to a decline in liver health which emphasized the critical role of proactive measures such as a low-fat diet and abstinence from alcohol. I wish there was someone that told my relative to take precaution when he was my age, but thankfully, he was able to find a match and is doing well today. There is not a single day that goes by without me thanking him as he truly saved me.
After getting my labs and liver biopsy done, my GI doctor diagnosed me with Chanarin-Dorfman syndrome as I had elevated liver enzymes, scarring and inflammation of the liver, and dry, scaly skin. Since I was a high school student who was not too far away from college, my doctor highly emphasized that I don’t consume alcohol and to start following a healthier diet due to my liver's impaired ability to process fat and filter toxins. Over time, this
build-up of fat can lead to serious complications. To help prevent further progression of the state of my liver, diet and exercise are extremely important for me.
Navigating social situations in college presented challenges as I refrained from drinking, enduring questions, and occasional pressure. If I didn’t know about my liver condition , I knew that I would have started drinking at 21 and would have been hurting my liver without even realizing it. Not only did I get questions about my skin growing up, I was starting to get questioned on why I would always order a mocktail even though I was of age to drink. There
were times I felt embarrassed and people were still pressuring me even though I said no at first. However, honesty and a concise explanation, “I can't due to medical reasons”, were effective in fighting off peer pressure, allowing me to prioritize my health.
Truly, my hardest challenges were consistently following a low-fat diet and exercising. There are months when I am strict with myself, but there are times when I am tempted to have that slice of pizza or a piece of chocolate. It was hard to let go of my favorite foods, but monitoring nutrition labels and making conscious choices enabled me to take care of my body, especially after all that my body does to take care of me. Setting a goal to lower my liver enzymes by my next labs, allowed me to stay determined. As a result, this past December, I was able to see my AST:ALT values drop for the first time. This was true evidence that my lifestyle changes are making a difference in my health and motivating me to keep going. My next goal is to start implementing intermittent fasting by fasting once a week. None of this is easy, but by slowly adding these practices into my routine, it became the “norm” for me.
After years of taking care of my skin and liver, I’ve learned to be more grateful for my overall health and the people who always support me in my life. My friends would accommodate my dietary needs such as making sure there is fat-free milk when making coffee. It was these little things I started to appreciate. Certainly, some uncertainties exist about how my liver will be several years from now, but I am glad I am taking action at an earlier stage of my life. By embracing openness about my skin and liver disease, I can be myself while fostering resilience and strength as I confront these challenges alongside a supportive community.
This information is provided as a service to patients and parents of patients who have ichthyosis. It is not intended to supplement appropriate medical care, but instead to complement that care with guidance in practical issues facing patients and parents. Neither FIRST, its Board of Directors, Medical & Scientific Advisory Board, Board of Medical Editors, nor Foundation staff and officials endorse any treatments or products reported here. All issues pertaining to the care of patients with ichthyosis should be discussed with a dermatologist experienced in the treatment of their skin disorder.