The Rare Disease Day on Feb. 28 brought the international spotlight on many rare disorders, with President Donald Trump mentioning the need for speedy drug clearances to combat such conditions.
Among these, one mysterious yet serious genetic disorder is nail-patella syndrome, also known as Fong disease or HOOD syndrome.
NPS comes with many issues such as the absence of nails, small kneecaps, or the total absence of kneecaps. The disease leaves sufferers high and dry, especially the children whose life without kneecaps or other physical abnormalities will lead to an eternal dependence on orthopedics. Considerable damage to eyeballs and kidneys is also a consequence of the syndrome.
NPS is identified in one in 50,000 people. The rare condition provides insight into the development of bones and the impact of abnormal physical development among infants.
In the United States, nail-patella syndrome has been identified as one among the thousands of rare diseases.
Hard To Treat
The number of people affected by NPS may not be large enough to spur efforts to develop treatments for it, as the medical sector pays most attention to heart disease and cancer, the main killers in the United States.
Skeletal abnormalities are an additional fallout of the nail-patella syndrome on the afflicted. Malformations in the kneecaps will be conspicuous in terms of their smaller size, irregular shape, or complete absence. Other parts affected by the syndrome are the nails, hips, and elbows.
The syndrome cripples the ability to extend arms, and turning palms becomes painful when patients try to keep their elbows straight. The abnormal webbing of elbows also stands out prominently.
A leading doctor traced the genealogy of the evolution of organs in babies.
"When a fetus first starts to grow, it's basically all cartilage," explains Dr. Vincent S. Mosca, an orthopedic surgeon at Seattle Children's Hospital. It may be noted that the starting point of the human embryo has the shape of an ear or nose, which is all cartilage. Formation of bones is a later stage process.
When the fetus develops in the uterus, the intake of calcium makes a starting point in bone formation.
Kneecaps start ossifying at the age of 3. However, for those with NPS, that never happens.
Dr. Robert Marion at the Albert Einstein College of Medicine explained that NPS can be passed on by a parent with a mutated gene to the child.
However, handing down the syndrome to the next generation only has a 50 percent probability even if one parent has the gene mutation. The condition involves the gene not having the ability to produce the desired proteins for muscle development.
Though NPS may not be life-threatening physically, the challenges it poses to detection and treatment can be extremely difficult.
Yet another rare disorder is Cleidocranial dysostosis, which affects the teeth and clavicles. The condition is marked by missing collarbones and dental abnormalities, such as the delayed loss of primary teeth.
President Trump's Gesture
Trump, in his maiden speech to the joint session of Congress on Feb. 28, mentioned the plight of 20-year-old Megan Crowley, diagnosed with a muscle-weakening disease known as Pompe disease when the girl was barely a year old.
She is the daughter of John Crowley, CEO of Amicus Therapeutics. His company specializes in therapies for rare diseases. The firm offers a slew of therapies for a range of human genetic diseases, including Pompe disease.
A determined Crowley was able to find a cure for his daughter's rare illness and saved her life. He has now taken up service in the pharma industry as a mission to champion the development of new medicines for rare diseases.
Crowley welcomed Trump's suggestion to make regulatory approvals for pharmaceutical companies easier and bring down the prices of drugs.
Trump said curbing restraints set by the Food and Drug Administration will create more miracles like Megan's cure.
Recently, the FDA rejected the request of Amicus for an accelerated approval of a drug. Crowley expressed the optimism that Trump's remarks would be constructive for the industry and that regulators will heed the message.