The doctor handed me a piece of paper with the word “trichothiodystrophy” written on it.  He was pretty sure this is what Drew had, and proceeded to tell me not to look it up. Drew was 2 1/2 years old at the time and we were at a dermatology specialist in Dallas because the pediatrician told us that her hair was “weird.” Her sister, Madison, was 4 days old in the NICU when I found out both of their diagnoses.

Being a noncompliant parent, I went straight home and Googled it. There wasn’t much information available on the Internet in 2002, but I did learn that it is a rare form of ichthyosis. That is how I found FIRST – the Foundation for Ichthyosis & Related Skin Types, Inc.   I sent a message to the FIRST contact inbox, not knowing what to ask or what to expect. I received a quick response from the FIRST staff with more information than I could ever imagine.

Trichothiodystrophy, which is also called TTD, is a rare autosomal recessive disease, characterized by brittle, sulfur-deficient hair and multisystem abnormalities.   It is also associated with ichthyosis which is dry, scaling skin that may be thickened or very thin.

That is what I expected TTD to be when I first heard the diagnosis. I thought the kids would have a little dry skin and cute, short hair. Well, they do have some dry skin that is maintained with daily applications of lotion and the kids’ hair is short and super cute thanks to our fabulous hair dresser. However, as I live each day, add each new specialist; and pay the max out of pocket deductible for another year in a row; I find out TTD affects so much more than skin and hair.

I have 3 kiddos with trichothiodystrophy. All were born at 35 ½ weeks gestation, all with a collodion membrane, and all spent time in the NICU. They all experience TTD very differently.

Twelve-year-old Drew is the oldest. She has a little dry skin, short hair, and some mild learning differences. All in all, she is your typical 12 year old girl, except when she takes an antibiotic and then her hair falls out. She has taken 3 antibiotics in her life and has lost her hair 3 times, but she is rarely sick. She will tell you she prefers her hair short; it sets her apart from the other girls.

Madison is my 10-year-old. She is often sick. She has a hard time staying healthy and asks visitors to use the hand sanitizer in our house.   She was recently diagnosed with Primary Immune Deficiency and takes a subcutaneous IGg replacement infusion every week. We have taken her out of school because she also is neutropenic, which means low neutrophils, the most important component of white blood cells–she lacks the back bone of her immune system.   She is on several daily inhalers, takes a daily antibiotic, and often has to do multiple daily breathing treatments. Her feet crack and get infected because of her susceptibility to fungus and the daily use of antibiotics. Her hair hurts to brush, but all she wants to do is grow her hair long so she can wear it in ponytails and take gymnastic lessons.

Chase is my 6-year-old son.  He was diagnosed with failure to thrive.  He can’t eat wheat, gluten, or dairy. The GI doctor wanted to supplement him with tube feedings but we could never determine a supplement that he would be able to tolerate so I worked with a registered dietician and tried new recipes until he was able to eat more. He also has immune issues and lost his hearing for a period of time, which interfered with his speech development. He has had multiple procedures: tubes in his ears, endoscopies, colonoscopies. He goes to speech therapy, occupational therapy, and horse therapy. He is the happiest boy you will ever meet.

These kids are amazing, challenging, daunting, and inspiring. People stop us at the grocery store, at the school, and in restaurants to comment on how much joy our kids bring them just by seeing them, knowing them, or talking to them. Every day brings a new emotion. Some days it brings happiness, some days it brings fear; but every day brings knowledge. We learn something new about trichothiodystrophy and ichthyosis every day. Every day we take more people on our journey… not because they have to come with us but because they want to experience all the amazement that comes along with these special kids with their very special conditions.

Amy (mom to Drew, Madison, and Chase)
Frisco, Texas

Drew, Madison & Chase have an update to their story.  Read it here.

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This information is provided as a service to patients and parents of patients who have ichthyosis.  It is not intended to supplement appropriate medical care, but instead to complement that care with guidance in practical issues facing patients and parents.  Neither FIRST, its Board of Directors, Medical & Scientific Advisory Board, Board of Medical Editors, nor Foundation staff and officials endorse any treatments or products reported here.  All issues pertaining to the care of patients with ichthyosis should be discussed with a dermatologist experienced in the treatment of their skin disorder.