On our journey to navigate through Mermaid’s disease we have learned that the statement “It takes a village” could not ring more true. We have found that the knowledge base and research surrounding LEN/ILVEN can be very limited at times so we tend to rely on the experience of others with the same condition to learn and share from one another’s experiences. When a fellow member of our support group reached out to me after reading my blog about a potential opportunity to aide in research of the disease, I was elated!
This week we received an invitation to participate in a research study of people with skin disorders at Yale University School of Medicine/Yale-New Haven Hospital. The goal is to find out how inheritance of specific genes causes some people in families to develop skin diseases. This is done by analyzing DNA molecules. Some studies may take years to complete and they may never find the true cause of the mutation, but if they do, they may be able to develop better tests and treatments in the future.
There are several steps coming up that we will share with you along the way including a skin biopsy and a biological sample. The biopsy can take 2- 6 months to get a final result on but we are excited to be on a path to having it done as we have asked about the necessity of having one from day one. Where LEN/ILVEN dont seem all that different they really are, so the more I learn about the different types of nevus the more it becomes relevant to me that knowing the pathology will pave our journey moving forward.
Coordinating care between physicians can be a slippery slope. It goes back to my experience thus far that each physician has a different level of knowledge & comfort, a different idea of what is and isn’t necessary and a different opinion about treatment. One piece of advice I have received from many other parents is to get a second opinion, the more eyes the better. Which means, we have a busy few months ahead of us. As we seek to get a second opinion, coordinate our biopsy, perform the biological sample and sift through our stack of paperwork I can’t help but be thankful for how far we have come.
When I started Mommy’s Mermaid my intention was to build a place I could chronical our journey and others could stop by to find common ground and support. It felt like a long shot but this is just one example of how it has served it’s purpose. Thank you Lauren McAdam for recognizing our eagerness to be a part of the bigger picture and reaching out to us. We are eternally grateful and proud to call you our friend.
Thanks for walking with us today,