Hi my name is Ashley. A long time friend of mine has a beautiful little girl with a very rare genetic disease. It is terminal and her life expectancy isn’t known. While her bright light shines here on the earth her family is doing everything they can to make sure she is living her best life possible. They would never ask for help but I know they need it. This situation is heartbreaking. I don’t know what to say to my friend who wakes up everyday knowing she will out live her daughter. I am praying for a miracle. I have hope they will have something in the future for this disease. Almost on a daily basis she is on the phone with insurance companies fighting for help to cover her daughter’s care. The medical bills are extensive and it’s stopping her from getting therapies that could really make a difference in her life. I am going to paste about the disorder she has. Please if you can spare anything give to this family. They are fighting so hard for their daughter. They all deserve better than what the system is giving them for her or rather everything it won’t provide for her. They are humble hard working people. I’ve known her mom for 26 years. She has a heart of gold. She is completely selfless. The term she’d give you the shirt off her back is an understatement. I’ve had the privilege to spend time with her daughter who is a gift to this world. Please lift some of their burden. Thank you.

Trichothiodystrophy, which is commonly called TTD, is a rare inherited condition that affects many parts of the body. The hallmark of this condition is brittle hair that is sparse and easily broken. Tests show that the hair is lacking sulfur, an element that normally gives hair its strength.

The signs and symptoms of trichothiodystrophy vary widely. Mild cases may involve only the hair. More severe cases also cause delayed development, significant intellectual disability, and recurrent infections; severely affected individuals may survive only into infancy or early childhood.

Mothers of children with trichothiodystrophy may experience problems during pregnancy including pregnancy-induced high blood pressure (preeclampsia) and a related condition called HELLP syndrome that can damage the liver. Babies with trichothiodystrophy are at increased risk of premature birth, low birth weight, and slow growth.

Most affected children have short stature compared to others their age. Intellectual disability and delayed development are common, although most affected individuals are highly social with an outgoing and engaging personality. Some have brain abnormalities that can be seen with imaging tests. Trichothiodystrophy is also associated with recurrent infections, particularly respiratory infections, which can be life-threatening. Other features of trichothiodystrophy can include dry, scaly skin (ichthyosis); abnormalities of the fingernails and toenails; clouding of the lens in both eyes from birth (congenital cataracts); poor coordination; and skeletal abnormalities.

About half of all people with trichothiodystrophy have a photosensitive form of the disorder, which causes them to be extremely sensitive to ultraviolet (UV) rays from sunlight. They develop a severe sunburn after spending just a few minutes in the sun. However, for reasons that are unclear, they do not develop other sun-related problems such as excessive freckling of the skin or an increased risk of skin cancer. Many people with trichothiodystrophy report that they do not sweat.