Focal Dermal Hypoplasia, or Goltz. is an Ectodermal Dysplasia Syndrome that is rare. This particular syndrome affects the cells that make up the hair, nails, teeth, skin, bone structure, and some organs in the affected person. Some of the main symptoms are missing/frail teeth, thin hair/bald spots, red lines/patches on the skin, fragile/thin skin, sensitivity or intolerance to heat/cold, loss of sweat glands, cleft palms and feet, fused fingers and toes, missing fingers and toes, slow weight gain, small stature, issues with the eyes and ears and sinus/throat anatomy, papillomas, and in some cases cognitive issues. There is a wide arrangement of symptoms in those it affects from very mildly affected (slight skin and teeth issues) to the more severely affected that have just about every symptom.
Emma was born with Goltz in 2005. She has had many surgeries over her 10 years of life and I'm expecting she'll need to have more as she grows older. She also has a specialist for just about everything. Most doctors and specialists have had no clue what Goltz was until they met Emma. We have become their educators. In 2005, the National Foundation for Ectodermal Dysplasia (NFED - www.nfed.org), helped start a new research project with the help of some very talented doctors and scientists. This research is very necessary as the last information obtained was from the 1960's when it was first discovered. Every year in July the NFED hosts a Family Conference. During this conference families from all over who are affected with any of the ED syndromes come together to grow and learn about our syndromes, but we also use this as a great way of staying in touch with others that go through the same experiences that we have. I cannot begin to describe how it feels to hug the other parents of these terrific kids that share my Emma's syndrome. Not to mention the joy I found just watching Emma making friends with the other kids that are just like her. My heart overflows with joy & wonder at how much these kids have to offer, not only to each other, but to the rest of the world. And their parents... I know their feelings and they know mine. They are our family. Emma and I cannot wait to be able to share another few days with them. We look forward to this trip every year!! It is our summer highlight and something Emma talks about the whole year long.
This year's family conference is in Colorado. There will be a special Goltz Conference in Denver to give us an update on the research being done and any new information. Then the main Family Conference will be the few days after that in Colorado Springs. In order for us to make this trip we will need YOUR help. Please help us raise the funds we need to get us to Colorado in July. Every donation made will help us get to our destination. No amount given is too small. Any funds that are not used for the trip will be used to help with the costs of Emma's medical bills. Please help us spread the word about Goltz and get us to Colorado this year.
Be a part of our adventure as we are "Going for the Goltz!"!