Genetic Testing

The idea of genetic testing has started creeping into my mind. Normally I wouldn't have thought about this, but lately I received a diagnosis that explained a very old problem that I had and given that it was passed down to me I'm now trying to arm myself with information to see whether or not my own children could get this, and if so to what degree.

Growing up I always had something different about my skin. In some areas I have dry, puffy, scale like skin, in others places I have soft raised dark skin, and in other places I have barely noticeable skin that is just slightly darker and has a matte finish to it. This skin condition drove me nuts and made me feel a bit self conscious because my hands always felt rough and scratchy as opposed to soft and smooth like most people. When I was younger my pediatrician diagnosed it but 10 years later when I finally started asking about it, nobody could remember what it was. All my mother remembered was that it had to be watched when I hit puberty to make sure tumors didn't form. Now fast forward to this year. In December I finally sucked up my worries and made an appointment with Baylor Dermatology Clinic. A wonderful doctor there looked at my skin, assured me that I don't have to worry about it doing any harm to me. It wasn't related to cancer, tumors, or anything of the sort.

I have Ichthyosis. At first the doctor thought it was Keratosis Seborrheica, but as soon as I mentioned that my mother has the same skin problems the diagnosis was quickly changed to Ichthyosis. Before anyone googles, let me first say that the google results are EXTREMELY rare cases and flat out scary. There are SEVERAL forms of Ichthyosis. I have a very mild version of one form, but another skin issue that I have may fall under one or two of the other forms. So we haven't completed my full diagnosis just yet.

Ichthyosis-Vulgaris - This is the most common version, and 95% of people with ichthyosis have this form but it can have various looks to it so google search didn't even help with this. Basically your skin doesn't shed its layers as quickly in the areas that I have this. On my own body I have this on my left hand and a little bit on my left foot, and a small amount on my left elbow. I use to have this in the same areas on the right side of my body but with time it cleared up. In some people it goes away during adulthood, and returns during old age. I'm crossing my fingers that it just doesn't come back. For the most part my hands are not as rough as they use to be thanks to a special lotion that my doctor gave me. Ammonium lactate cream 12%. I consider myself lucky because there are hundreds of people out there with this skin condition that have it way worse than I do.

My main concern now is if my children inherit this skin disorder, will they have it worse? What would be the worse case scenario? Could they develop another form of ichthyosis that is harder to deal with? These are questions I would like answers too, but I'm still fairly new to researching this. From what I've read I think things would be okay, but I would love some reassurance because there are some terrifying forms of ichthyosis out there but I know they tend to deal with specific genes.

I am lucky enough that Baylor Dermatology has a program called MyChart where you can see your test results, ask for refills, and send questions to your doctor specifically. I sent my doctor a message today asking whether or not I need to come in regarding having a child and possibly passing this down given that my case is genetic.

What will happen? We'll see. Depending on the answers from my doctor we may do genetic testing, or we may not have to. It would definitely put my mind at ease, so I've brought up the idea with Chris so that if my doctor suggest it then he'll be ready mentally.