Though it is the most common form of dwarfism, occurring in one out of every 25,000 births, achondroplasia is often misunderstood as a condition only affecting one’s height.
Beyond disproportionate short stature, achondroplasia is associated with a number of serious health complications, sometimes resulting in the need for invasive surgeries.
What’s more, individuals with achondroplasia have disproportionately short limbs, which impairs functioning and can lead to delayed development of self-care skills.
Despite the many complications that can arise as a result achondroplasia -- including sleep apnea, bowed legs, enlarged head, spinal stenosis (narrowing of the spaces between your spine), recurrent ear infections and compression at the foramen magnum, the opening in the base of the skull through which the spinal cord passes -- research funding for this condition is scarce and treatment options are limited.
Indeed, when Amer and Munira Haider’s son, Ahmin, was diagnosed with achondroplasia at 9-months old, the couple soon learned that his health would have to be actively managed with regular visits to such specialists as an ear, nose and throat doctor, a neurosurgeon and orthopedist, as well as by working with physical and occupational therapists throughout childhood.
They also learned that there are no drug treatments for achondroplasia, and management of achondroplasia can frequently involve surgical intervention. Ahmin would likely need at least four major surgeries in his lifetime.
“We spoke to different researchers and clinicians about any potential drug therapies and discovered that because achondroplasia is a relatively rare condition, their work was not being funded adequately to drive the science and further drug development,” says Amer Haider.
Envisioning a life for Ahmin in which he is physically independent and experiences the fewest possible orthopedic challenges, and seeing a gap in the community, the couple established the Growing Stronger Research Fund. Its mission is to raise funds to support the efforts of researchers in the field and connect little people with experts who can answer their questions.
“Through the organization, we hope people will join our cause of ensuring momentum for improving the quality of medical care for little people,” says Amer Haider. “We believe every family should have access to therapeutic options.”
This drive is also why the Haiders made the decision to enroll Ahmin in a clinical trial for patients with achondroplasia.
“After a year of research, and discussing the available safety data and risks with our doctor, we felt it was the right thing to do for our son,” says Munira Haider.
To learn more about living with achondroplasia and the work that scientists are doing to create a drug therapy, visit growingstronger.org.
While the potential complications people with achondroplasia face are many, ongoing research to better understand the condition continues, with several different therapeutic candidates advancing in clinical trials, creating the potential for treatment choices in the future. (StatePoint)