By Karsen Buck
Hello, my name is Karsen Buck. I am 18 years old and I have been diagnosed with ectrodactyly-ectodermal dysyplasia-clefting (EEC) syndrome. Ectrodactyly is the condition of a split hand or cleft hand. Mine happens to be in my right hand where I was born with only four fingers, two fingers were deformed.
Fortunately, I was able to have an excellent, retired doctor who created a fifth finger by taking out bone and separating the conjoined fingers. I believe I have had a total of four surgeries on my hand. I am more than efficient with my hand.
My penmanship is beautiful and I recently learned to play the piano. I run into a few bumps here and there but it does not stop me. You just have to alter some steps.
I obtained this disorder from my dad’s side of the family where we had no idea what we even had it until my dad had a brain tumor and almost passed away. His doctors did not sleep for days and finally came to the conclusion of this rare condition, ectodermal dysplasia.
This tumor has altered his life dramatically. His mother carries the gene. The gene was passed down to my dad, his brother and one of his sisters.
Some of my cousins also have this condition. My uncle has three kids with only one child affected and my aunt has two kids, both of whom are affected. Nobody else has ectrodactyly in my family but they have a more severe condition of cracked, fare skin and brittle nails on their hands and feet. They also have dry eyes which can cause them to be very red and irritated at times. I have noticed that this seems to gradually get worse with age.
Between my older sister and I, I am the only one who carries the gene. I actually did not even learn about my abnormalities till one winter holiday. My aunt and sister told me about my impaired breast development.
From there, I connected the dots to my hand. It actually made me very sad and almost scared, considering I was only eight or nine. However, I now know that I just have to accept it. It is who I am and I cannot really change it all.
My Other Symptoms
Besides the cleft hand, I also constantly have a tear in my left eye because my tear ducts were closed when I was born. The amount of times someone has asked me “Why are you crying?” has been exhausting but it will continue. The tear is a permanent friend.
My nails, skin, and hair are very brittle as well as my teeth. I believe I was born with 24 or 26 teeth rather than the full set of 32. The amount of times I have been to the dentist is beyond me, but you could say Dr. Ballou and I are pretty tight now.
Ironically, however, I do not have the condition of hypohidrosis. Instead, I actually tend to sweat more than the women in my age group. Lastly, my father and I do not have finger prints on our hands or feet. I am not fully sure if this is a side effect from ectodermal dysplasia, yet I feel like it fits.
Looking to the Future
The only thing that triggers me for the future is reproducing. I am not sure if I want my children to be exposed to this disorder. I know there are gene tests, which are amazing but very costly. Plus, the treatments for all the side effects that come along with this condition are very costly.
It is amazing to me how few people have this condition. An estimated 3.5 out of 10,000 people are affected with some sort of ectodermal dysplasia condition.
I have never attended an National Foundation for Ectodermal Dysplasias (NFED) Family Conference but I would love to this summer in Portland. It seems extremely heart-warming because you can personally connect with so many people’s stories when generally I cannot do that.
One day, I would love to do more research involved with this condition and even on myself. It is so rare I feel it should not go unnoticed. It can be hard at times but everyone has something involved with their body that they may feel uncomfortable with. We are not alone.
– Karsen Buck is a guest blogger for the NFED.