Thursday, August 26, 2010

Sawyer and HED

We have recently discovered that our little man most likely has a genetic condition called Hypohidrotic Ectodermal Dysplasia (HED). This will be very long winded, but if you are interested here is how it has all played out...

It all started a few months ago when we switched pediatricians. Our new pediatrician became quite concerned that Sawyer was not growing at the rate that he should. He had steadily dropped to the bottom 1% in weight. She referred us to several specialists including a pulmonologist because of frequent respiratory infections, a gastrointerologist to make sure he was digesting his food properly, a pediatric dentist because he still has no teeth, and a geneticist.

Shortly after this appointment, we took Sawyer to an urgent care because of a sore throat. We saw an excellent pediatrician who spent nearly 2 hours with us because it was a slow night and she was concerned about Sawyer's sparse hair and growth restriction. She brought to our attention that Sawyer could possibly have Menkes Syndrome, otherwise known as kinky hair disease. Menkes is a very serious copper deficiency disorder which is usually fatal within the first three years of life. After doing some research we were definitely concerned, but the pieces of the puzzle did not all seem to fit. A few of the main characteristics of Menkes are neurological and physical delays. This includes very low muscle tone, failure to meet milestones, etc. Sawyer has always been full of energy and enthusiasm. We were cautiously optimistic that there was another answer.

After a few weeks of nervously waiting and trying to get an appointment with a geneticist (there is one in Nevada and an 8 month waiting list), we began the appointments with the other specialists. First we saw the Dr. Nakamura, the pulmonologist, who took a detailed history about Sawyer. We discussed the thin, sparse and patchy hair, and how it had been brought to our attention that Sawyer could have Menkes. I then mentioned that Sawyer still has no teeth. The doctor looked intrigued asked me how Sawyer's sweating was. I told him that Sawyer does not sweat. His eyes got really big and he said "Really?" I told him it was true and that we had always had a hard time regulating his body temperature. Even as a newborn sometimes he would have to sleep with just a diaper because he would get overheated easily. The doctor said he would be right back and returned a minute later with some paperwork. He said that based on his findings Sawyer does not have Menkes, but rather HED. He handed me the paperwork explaining the disorder and it was like a hundred light bulbs went off one right after another. Suddenly all of the little quirks that we always thought were so unique to Sawyer were all connected in a way we never could have imagined. The primary three defining characteristics are lightly pigmented,thin and sparse hair, lack of teeth, and lack of sweat glands. But the list goes on. Almost every possible symptom that related Sawyer to HED, he had. Some of the others are lightly pigmented skin and hair, prominent and full lips, flat bridge of the nose, dark circles under the eyes, wrinkled skin around the eyes, very thin skin, sensitive and dry skin that is prone to rashes, low set ears, smelly and abnormal nasal discharge, frequent respiratory infections, raspy voice, severe peeling and flaking of the skin at birth. I was amazed. I almost wanted to cry while sitting in the doctor's office, because although I was finding out that Sawyer did indeed have a genetic condition, it nearly ruled out the possibility of the much more serious disorder.Then I went home and did a little research of my own, and I was blown away. We always thought we had such a unique looking child, and then I saw other little boys with HED. It was like we found a lost family of brothers that all look like Sawyer.

Although we won't have an official diagnosis until we see the geneticist in several months, we are quite certain that HED is now a part of our family. Unfortunately it may not stop with Sawyer. The type that Sawyer has is x-linked recessive, which in my very basic understanding means that it was passed on from me. It makes sense because as a carrier I have a few minor symptoms, like insufficient sweat glands, some thin and patchy hair, and I was missing two teeth at birth. Being a carrier also means that there is a 50% chance that the rest of my children will also inherit the condition.

I think that the worst part is that Sawyer will likely go through most of his childhood without many teeth. We have been to see a pediatric dentist who confirmed that Sawyer likely only has two teeth under his gums, just the upper canines. At least vampires are cool right now, huh? We can try to get him fit for dentures, but this can be tricky for a growing mouth. He will also likely have to have surgeries in his teens to get bone grafts put into his jaw to strengthen it for implants, and then several implant surgeries. Aside from that, there are just minor adjustments we have to make. We will try to move out of the desert as soon as we can to manage the heat better (which might break my heart...I love flat, brown and ugly), we have to carry a water bottle and plenty of fluids everywhere we go to spray Sawyer down. We have to make sure Sawyer gets enough calories with the soft foods that he has to eat. We won't know if our new little baby will also have the condition for awhile. If he does, at least Sawyer will have someone to go through it with him.

The good news is that nothing will limit Sawyer's opportunity for a long and full life. We just have to strive to raise a confident and strong little guy, and hopefully the fact that he may be a little different will only make him a more compassionate and accepting person. We have an incredible support group of family and friends that will always be there, and the most amazing son we could ever hope to have. We are so lucky! Thank you all for your love and support.

Here are a few videos if you are interested in seeing more...