By Jodee Redmond from In The Cloud Copy
Assemblywoman Nicole Malliotakis (R-East Shore/South Brooklyn) introduced Ava Rose Garnett in New York’s Capitol building in Albany recently. Miss Garnett is a student at Paulo Intermediate School and is also an advocate for rare diseases.
Ava Rose was born with Nail-patella syndrome. This extremely rare disease occurs approximately once in every 50,000 births. At only 12 years of age, Ava Rose has taken on the task of educating the public about rare diseases in general, and particularly her own disorder.
What is Nail-patella Syndrome?
Nail-patella syndrome is a genetic disorder, and the diagnosis is confirmed by genetic testing. Signs and symptoms that would make a doctor suspect that a young patient has been born with it include missing or underdeveloped fingernails or toenails. Other signs of this disorder are:
- Extra pieces of bone on sides of the hips (iliac horns)
- Small or missing kneecaps
- Underdeveloped elbows
A patient who has been diagnosed with this disorder is at higher risk for kidney disease and glaucoma (high level of fluid pressure in the eye). Some patients aren’t able to fully extend their arms at the elbow. Others may have difficulty turning the lower part of their arm when the arm is straight, and their elbow may dislocate easily.
The majority (70%) of patients with Nail-patella syndrome have iliac horns. These pointy pieces of bone on the hips are not normally present. This sign is often used to positively diagnose Nail-patella syndrome.
Less-common symptoms include gastrointestinal issues, such as irritable bowel syndrome and chronic constipation. Patients may also experience reduced sensitivity to pain and temperature, along with tingling, numbness, or burning sensations. Their hands or feet may feel cold, even in warmer months.
Nail-patella syndrome may also cause dental problems for patients. The disorder may lead to thinning of dental enamel, resulting in tooth decay.
Young Woman Decided Not to be Defined by Rare Condition
Ava Rose is an active young person who has decided not to let her health condition define who she is as a person. She plays second base and in the outfield for her school’s fast pitch softball team. Ava Rose is a member of the debate team and also enjoys participating in skiing, basketball, soccer, and rock climbing. Ava Rose strives to give her best effort every day, no matter how challenging the situation she finds herself in.
Ava Rose was the subject of a documentary filmed by New Zealand’s Attitude Pictures company. Last summer, she went to the National Abilities Center located in Park City, UT. The trip was organized by SheLift, a charity that is specifically geared toward young women with physical differences. SheLift wants the clients it serves to gain a new sense of confidence as well as compassion for others by participating in its summer, fall, and winter retreats.
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