This month I will be sharing a few posts related to ichthyosis with the hope to advocate for acceptance and understanding of people with visible differences, support FIRST Foundation and the possibility of improved treatments and cures, and to spread awareness about this rare genetic skin condition.
Ichthyosis. How do you spell that? How do you say that? I say ICK-THEE-OH-SIS. I’ve heard it say other ways, too. For the sake of simplicity I often tell people that Olivia has a genetic skin condition that makes her skin grow really fast and she can’t slough it on her own like we can. It works for kids and adults alike so I stick with it. But it’s not the whole story and it is an oversimplification of the disorder.
There are about 20 different types of ichthyosis and although there are similarities across the conditions, there are a lot of differences, too. Some are linked to the x-chromosome, some, like Olivia’s type, are double recessive, and still some others are dominant. Never did I realize that those Putnam squares and pea varieties that I learned about in Biology would come in handy! Ichthyosis is so rare that there is still a lot we just don’t know. For example, Olivia has Harlequin Ichthyosis – a phenotype that presents with thick white diamond shaped scales at birth. Olivia received two different gene variations. One from me. One from Casey. And since we aren’t related the mutations were different. One of the variations had been previously recorded in someone with Harlequin ichthyosis… and the other had not. Why is this important? Since the mutations are different and we don’t know enough about this particular part of DNA, we don’t know how else these variations might affect Olivia. Additionally, the two mutations that Olivia has are also different than the two genetic mutations or variations that someone else with Harlequin Ichthyosis might have. So even though someone else might have Harlequin Ichthyosis, that person and Olivia might have different challenges. I found myself saying, “genetics are weird.” on a regular basis.
What is common among the ichthyosis population, however, is that the largest organ – skin – is compromised. Your skin is the first defense for your immune system. Your skin, and it’s ability to sweat, helps you control your body temperature so you don’t overheat. Your skin retains moisture, which helps keep your whole body hydrated. When your skin is compromised, as in the case of folks with ichthyosis, you are more susceptible to infections, overheating (which can also happen if you get too cold as your body goes into overdrive trying to warm you up), and dehydration.
That’s just the tip of the iceberg of the world with ichthyosis and for most people it’s more than enough information to grasp all they need to know. But there is more because with any congenital condition, there is almost always more. What is important to know about ichthyosis is that it is NOT contagious. And although your skin provides very important functions for your body, people with ichthyosis (and their loved ones) don’t have to live constrained by fear. We are cautious, yes. Of course. But, it is my goal to equip Olivia with the tools necessary so that she feels confident enough to pursue her interests and passions. This may mean that we get creative, that we stay flexible, and we adapt – but is that any different than any other family?
During the month of May, please follow along as I share about #ichthyosisawareness and consider donating to FIRST Foundation to support their work “to improve lives and seek cures for those affected by ichthyosis and related skin types.”