Sharron and John Crowther feel in love at an early age and set to creating a beautiful life together in the UK. Once they had their first child, they couldn’t wait to keep adding to their family. Nine years after they married, they gave birth to the 3^rd son, Harry. A fantastic child, both Sharron and John never would have suspected what was to come. Here are a list of some of his personal symptoms and a brief version of the path Harry took to get a final diagnosis.

Some of the symptoms he showed over time: 

• Around the age of 1, Sharron noticed what she believed to be tiny freckles under his arm. , but they were spread out and a pale-brown in color. With an ultraviolet light, the dermatologist was able to detect another spot the size of about half an apple on his stomach. They were referred to a geneticist.
• The geneticist thought it was Type 1 Neurofibromatosis which may cause tumors in the body as the child grows. A blood test was given to confirm. A few weeks later, they went to see the geneticist who told them the test was negative.
• Over the next 2 years, the spots began to spread. Yet, tests still provided no answers. Since he seemed to be bright and normal in every way, they tried not to worry as they searched for answers. Until his mother noticed his tummy seemed taut and tight. Searching for a chromosome defect, the doctor still had no clue but was determined to find out by reaching out to colleagues.
• Over the next year, Harry was growing and you could see that something wasn’t quite right. His bones weren’t forming normally. His chest was small and had extremely small collar bones. Harry’s parents noticed a change in his features. His nose was starting to become more beak-like, his teeth were trying to fit into a small mouth and his eyes seemed to be protruding more. Demanding answers, the doctors tell the family that they think it is MAD, Mandibulo-acral Dysplasia, which has the symptoms of receding chin, little body fat, and small collar bones and fingers. However, he tested negative for him. Finally the family requests that the geneticist find someone who can help them. He did…in Dallas, Texas.
• The Crowthers headed to the United States to meet Dr. Abhimanyu Garg, Chief, Nutrition and Metabolic Diseases for UT Southwestern Texas. His bone density was checked, his body fat was looked at and more tests were run. Finally the family had concrete answers.

Final Diagnosis:

• Atypical Progeria Syndrome – a genetic disorder that presents with premature aging. A healthy child cells are constantly renewed to replace dying cells. But this genetic mutation interrupts the process and leads to accelerated aging.

What is ahead for him:

• There is no cure at this time and there are only 30 known people with this syndrome. His body was aging 5 times faster than it should. Similar to the Progeria (another aging syndrome) which has around a 13 year lifespan, Harry’s syndrome is believed to be more optimistic.
• As Harry’s body grows older, his mind will not deteriorate. He already is dealing with arthritis and now sees an occupational therapist as well as a physiotherapist.

Grateful that Harry’s syndrome is a-typical and his life span is believed to be beyond the normal progeria patient, the Crowther family lives each day as a blessing. Clearly a happy boy…and an inspiring one at that!