A few weekends ago, I was lucky enough to attend the Patient Support Forum hosted by the FIRST Foundation in Mahwah, NJ. Since Evan just had surgery he stayed home with his dad. I made the short trip solo and I am SO HAPPY that I did.
Not only did I get an excellent genetics lesson but I also got to meet some wonderful families. Some, I recognized from FIRST newsletters or on FIRST's member stories page and some new faces I had never seen before. It's was small and intimate and very rewarding. It was comforting to be with a community who "gets it" and has "been in your shoes". It was interesting to meet others with different types of Ichthyosis and to communicate with parents about how they care for their child. In the "parents group" we also talked about social interactions and school settings.
As much as I "knew" about Evan's genetics, learning more about genetics in general, types of mutations and why/how mutations cause problems within genes was a great reminder of those forgotten science lessons in high school. It was interesting to hear about the latest research and treatments out there. Dr. Choate's Gene Discovery Project is beneficial to the understanding of Ichthyosis and how mutations affect a cell. Having a registry of those with Ichthyosis is beneficial for further research for treatments and a cure.
So what did I learn? Lots. Genetic alone was a great lesson. I wouldn't mind another one! A few facts and tips I took from this conference were:
-If you know Ichthyosis runs in your family, it can be tested for through non-invasive prenatal blood work! Way better than an amniocentesis! This is an amazing advance!
-Baking soda baths help with desquamation (shedding of skin). Well for one- I learned what "desquamation" means and two- I learned why we do baking soda baths! We have always done them and I thought it was just to help soften the water for "soft" skin. But helping the shedding process is the biggest benefactor.
-The NIH research funding has been cut by 15%. This would include loosing LOTS of scientists who are looking for better treatments and cures in all types medical research. You can contact your local representative and share your story to help prevent budget cuts.
-FIRST is organizing ways for teens to keep in contact by facilitating programs dedicated to their age group by connecting them in person and via Internet.
-Install a water softener. We have well water and it has a lot of minerals and is very hard. These systems were recommended by other parents who say it has been a big help aiding their child's skin, never mind your own.
Being a part of this community excited me for Evan's future. I felt so comfortable being with others who understand what it was like to be 'in my shoes'. The information available was impressive and necessary. To know Evan will be in his 'own element' while spening time with others affected is such a beneficial and comforting experience. I know Evan will be just as delighted to spend time with others during FIRST gatherings for years to come.
Read more about the patient support forum at Mahwah, NJ here:
FIRST Blog- Live From Mahwah and More from Mahwah
Confetti Skin, Beauty Within- Jennifer's Lesson in Basic Genetics