Fort Worth, Texas,
08:04 AM

Discovering medical breakthroughs

I count myself fortunate to live in a time when there is continual progress in all areas of medical care. Major medical breakthroughs are a rare thing and become even rarer as you move into smaller, specialized groups within the population. In the case of pediatric endocrinology, I can think of a few breakthroughs such as the discovery of insulin, purification of growth hormone, and routine use of blood glucose monitoring in type 1 diabetes care. Progress remains steady in clinical testing and refinement of the artificial pancreas, the hopefully next big breakthrough in type 1 diabetes care.

Occasionally, I’ve been lucky to know someone personally whose life has benefitted from such progress which was the case this past month. Multiple news outlets reported dramatic results of a new therapy for infantile hypophosphatasia. Hypophosphatasia is an extremely rare genetic condition affecting less than 20,000 people in the U.S. The condition is due to defective action on a vital bone enzyme known as alkaline phosphatase which is necessary in the formation of bone. There is a spectrum of severity tied to how active the enzyme is. Those with some to modest enzyme activity have symptoms appearing in childhood or adulthood, including weakness in bones that causes them to break more easily and premature loss of teeth.

Babies with the severe infantile form of hypophosphatasia progressively weaken as bones dissolve away. Movement and eventually the vital function of breathing become progressively more difficult. Toll of the disease is terrible with half of babies with infantile hypophosphatasia dying of respiratory failure in the first year of life. Progressively fewer live to see subsequent birthdays.

The news stories reported specifically about one patient, Janelly Martinez. Janelly’s parents watched helplessly as their daughter followed the typical grim course of infantile hypophosphatasia, requiring escalating levels of medical care to survive. For a time, I shared in the family’s struggles as a member of the endocrine team at Vanderbilt University that diagnosed and cared for Janelly.

Janelly’s parents faced the prospect that she would not survive the scarce few months until her third birthday. Her parents needed a medical miracle. For Janelly and her family, the miracle came. A new experimental therapy with the drug Asfotase alfa, a synthetic form of alkaline phosphatase became available in 2008. The results were dramatic for Janelly and other babies receiving the drug. New bone began to grow. Treatment results were dramatic, appearing within six month. Some older toddlers were able to stand for the first time.

I am deeply touched by the new life Janelly has received from this treatment. From struggling to breathe with mechanical assistance to now bearing some weight, Janelly has made remarkable progress. The prospects for an average childhood for Janelly even with treatment remain unknown. She is nearing 7 years old but remains the size of a toddler. Her contribution and her family’s contribution to medical discovery will endure.

It doesn’t matter how many years I’ve been in medicine, I continue to be impressed with advancements in modern medicine. I’m amazed at the science of it all and so thankful that it can helps special little children like Janelly.

About the author

As a self-described ‘techie,’ Joel Steelman, M.D., has a keen interest in the wise use of technology to improve medical care. Since 2001, he has helped implement electronic medical recordkeeping in two endocrine practices. He still loves to write, and he is a regular contributor to the Physician Perspective page on the Cook Children’s Web site.

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