Dad Plans to Promote Awareness About Cystinosis, His Daughter’s Rare Disease as Father’s Day Approaches

According to a story from CBS News, Clay Emerson, from New Jersey, is hoping to use Father’s Day in order to raise awareness about his three year old daughter’s rare disease. His daughter, Brooke, is three years old and has cystinosis. Initially, Clay was worried that Brooke would not live very long. Her mother, Jill, sensed that something was not right not long after her birth. She had trouble feeding from the day she was born. Now, Clay wants to do what he can to make sure that she has a normal childhood.
Cystinosis is a type of lysosomal storage disease. People with the disease have an abnormal buildup of an amino acid called cystine. This cystine is found in the lysosome, a cellular organelle that normally breaks down different biomolecules. This disorder is caused by a genetic mutation. Eventually, crystals begin to form in different areas of the body. Symptoms of cystinosis include include poor growth, kidney problems, hypophosphatemic rickets, and acidic blood. Cystine crystals also appear in the cornea. Treatments include cysteamine, which comes in eye drops and capsules. Potassium, phosphorus, and sodium citrate is often supplemented in order to control acidosis (acidic blood). To learn more about cystinosis, click here.

While Brooke is a bit small for a three-year-old, you can’t really tell that she had cystinosis. Her disease was discovered using a genetic test. She take medications multiple times per day and uses a feeding tube. Brooke, like many other kids her age, enjoys spending her time playing with her toy animals. Her parents describe her as a great kid.

It is still unclear what lies in Brooke’s future. She is one of only 500 people in the U.S. that have cystinosis, which highlights just how rare disorder is. Unfortunately, this means that there is not a whole of support out there for patients and families. There are not many treatments available, and research initiatives are also sparse.

Although things are far from normal, Clay says that Father’s Day will allow him to reflect and appreciate being the father of such a remarkable little girl.


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