Hypohidrotic ectodermal dysplasia (HED) is a rare inherited multisystem disorder that belongs to the group of diseases known as ectodermal dysplasia (ED), ED typically affects the hair, teeth, nails, sweat gland, and/or skin. HED is primarily characterized by partial or the complete absence of sweat glands, causing the lack of or diminished sweating, heat intolerance and fever, abnormally sparse hair, and absence and/or malformation of certain teeth (National Foundation for Ectodermal Dysplasias).

I can imagine reading this it doesn't really provide information about how this actually affects a child, their family, and their environment. November 13, 2017, my daughter Jane will turn 16, what a wonderful milestone and she is a great kid. She loves horses, is very artistic and can't wait to get her drivers license, So drivers BEWARE!

Sixteen years ago, she was born, after two miscarriages and two rounds of fertility pills. She was ready to be here, but even at birth, there was some difficulty with here temperature and heart rate. The doctors calmed us and we were told that it is not uncommon for newborns to have to be put under the heating light. The doctors were right, and we went home right on time.

As time marched on, Jane met her milestones, she was small but healthy, active, smart, and loved life. There were a couple of things that stuck out, I noticed she didn't seem to ever sweat, which when my son napped as an infant he would wake up sweating, Jane never did. She was 18 months old before her first teeth appeared and it was her four back molars. I talked to the doctors about both concerns, was told that it is not unusual for teeth to come in different and she was considered small for her age so she probably just doesn't get hot too often.

Jane continued to grow, her teeth came in strangely, and she still didn't sweat. I expressed my concerns to both the doctor and the dentist, my feelings constantly being dismissed. As a family we became vigilant over her lack of sweating, especially on vacations or sporting events, her skin could become hot to touch or her face becomes very red. Looking back the other things that stick out to me is how sensitive her skin was, little to no body hair and the hair on her head grew very slowly.

Jane started school and during kindergarten and first grade, she was sent home several times, because of temperatures even though she wasn't sick. Most of the time she had a temperature after doing an activity that caused other classmates to sweat, but without a health plan in place, the school was required to send her home. So I made the decision to find out what was causing this, I contacted her doctor, who at the time didn't understand my concern but agreed to send her to the University of Virginia to the Dermatology Department.

The visit to UVA was very interesting, the doctor asked if I minded if medical students sat in on the appointment, I agreed. To determine if Jane was sweating at all, the students painted her back, chest, palms of her hands and her feet with iodine and cornstarch. The students were also painted on their face and hands as a comparison to Jane. Then, Jane proceeded to walk around the campus of UVA to try and work up a sweat, the room was also set at 95 degrees. After a period of about 45 minutes, the students and Jane compared their results, the students' foreheads and hands had all turned purple due to the reaction from their sweat and the iodine and cornstarch. Jane showed evidence in only in two places, the lines on her hands and the bottom of her feet. This experiment determined that she did have sweat glands but they did not appear to function correctly. It was also determined that Jane had such sensitive skin due to her pores being wide open and the pores weren't "cleaned" by the process of sweating. The doctor recommended an appointment with a genetics doctor, so that appointment was scheduled.

Prior to the appointment with the genetics doctor, I was asked to fill out genetic information for the doctor on both sides of the family. The entire family was aware that Jane's aunt was missing a lot of teeth, whether it was her baby or adult teeth. This also occurred with Jane and her two female cousins, but other than that there wasn't anything unusual in either families genetics.

The appointment with the genetics doctor was informative, although there wasn't any actual genetic testing done, it was determined based on the medical information provided about Jane, the lack of sweating, the lack of or displacement of teeth, the limited amount of body hair and the slow growth of her hair on her head, that she most likely had a mild form of ectodermal dysplasia, Hypohidrotic ectodermal dysplasia (HED) . He went on to explain that HED is usually inherited as an X-linked recessive genetic trait and is caused by a mutation in the ectodysplasin- A gene. A female can carry a single copy of the disease gene, may exhibit some of the symptoms and findins associated with the disorder. These may include absence and/or malformation of certain teeth, sparse hair, and/or reduced sweating. During this appointment, he did not recommend any testing unless there were changes in her health or she was ready to have children. He provided medical documentation about her inability to sweat and her health plan was established for the school.

The health plan is a very easy one to follow, needs the ability to carry water, and needs the availability of a cool place to come to. The health plan also explained symptoms to looks for, redness of the face, skin hot to touch, headache and stomach ache. But it also explained the seriousness of the inability to sweat, Jane is very vulnerable to heat exhaustion and/or heat strokes.