Date: 12/19/2024

A few weeks after Camellia was born in 2017 we started noticing that she was having skin issues. Her skin would become flaky and peel off over and over again. She was extremely itchy and red most of the time. We went to the dermatologist and they diagnosed her with ichthyosis. They recommended that we get a genetic test done through FIRST to verify the specific type of ichthyosis that she had because they are many different variations of it. The genetic tests take a long time to get results though, so we didn’t hear back for a while.  In 2019 Camellia started to progressively go downhill. Lots of things were happening but the main thing was that she was losing weight, so they admitted her to the hospital. After a few days they had no answers, so I mentioned the genetic test and they contacted the people that do the research to expedite the results. They eventually did an ECHO and figured out that this was heart related and we moved to the ICU because her heart function was lower than normal.

As we were in the ICU things kept getting worse and her heart function continued to drop. Thankfully, we were able to get answers just in time. Camellia’s genetic test results came back and showed that she has Erythrokeratodermia Cardiomyopathy (EKC). They told us that her heart function was dropping rapidly and she needed to be transferred to MUSC where there were more cardiologists and where they could figure out proper treatment. So, Camellia was transported to Charleston. It was an emotional and uncertain time for us. When we got there the difference was huge. There is a phenomenal dermatologist there that had worked a lot of patients with ichthyosis and knew of a new medication that seemed promising. Because of the urgent circumstances, we decided to try it out.

As the weeks went on, Camellia improved greatly. She was finally comfortable and smiling and laughing. She gained energy so quickly and her heart started looking better. After four weeks she was able to get a Gtube put in and we were allowed to go home! When we were home Camellia did tons of therapy, got lots of check-ups and we even had a nurse help us every day! She progressed and progressed and now she is developmentally right where she should be.

There continues to be many challenges that Camellia has to deal with but she is so strong. Unfortunately there isn’t much information about her condition because it is quite rare, so we deal with a lot of unknowns. Now Camellia is seven years old. She is such a smart and funny little girl. Dragons, dinosaurs and whales are her absolute favorite things. She has made friends and experienced so many joys in life. We continue to be thankful for each and every moment we get to spend with her, knowing that this condition could shorten her time with us.

How has FIRST impacted your life?

FIRST was instrumental in getting us connected with life saving information about Camellias condition. Without it, I’m not sure Camellia would be with us any more. We are very thankful for everything they have done for us.

The work performed at The National Registry for Ichthyosis and Related Skin Types at Yale led to the discovery of this disorder, but more importantly, this was a case where the registry also saved a life.

FIRST staff identified a post in our private Facebook groups. We reached out to Dr. Keith Choate at Yale because he recently identified a new type of ichthyosis that also affected the heart. We put the family’s physician in touch directly with Dr. Choate. The ICU called him because she was doing poorly and Dr. Choate expedited the testing after making a visual diagnosis from photos.

Based on the results, Dr. Choate was also the one who directed initiation of lifesaving therapy.