HPP REAL STORIES

Meet Tanner

Diagnosed with HPP at 4 days old

When Tanner was born, his mother, René, did not suspect anything was wrong with him. Then his doctors noticed that his wrists were retracting and he had an unusual amount of cartilage.

Tanner, diagnosed with HPP at 4 days old, with a stuffed animal

After his X-rays and blood work were evaluated, Tanner was diagnosed with hypophosphatasia (HPP). HPP is a rare genetic, life-threatening metabolic condition that prevents minerals such as calcium and phosphate from being properly deposited in bones.1-3 His doctors told René that he had a 50% chance of survival. She was terrified for her son.

Tanner, diagnosed with HPP at 4 days old, playing on a playground Tanner, diagnosed with HPP at 4 days old, sliding down a slide

A week later, Tanner’s pediatrician called René to tell her about a clinical trial for an enzyme replacement therapy. Tanner’s health was declining, and without an approved therapy for HPP, René felt that the clinical trial was the best option for her son. The family flew several hundred miles from Missouri to the clinical trial site in Delaware. Within a week, Tanner began his infusions and remained under his doctors’ supervision for the next 5 months.

Several years later, Tanner is still doing well and continues to receive treatment. “As Tanner has gotten older the clinical trial has helped him grow. He can walk. He tries to be very big and helpful,” René shared. “My hope for Tanner in the future is that he enters into adulthood. I think that he’s very smart, and I think that he is definitely going to go to college. I kind of hope that he will be a doctor, and maybe help kids like doctors have helped him.”

References:

  1. Rockman-Greenberg C. Hypophosphatasia. Pediatr Endocrinol Rev. 2013;10(suppl 2):380-388.
  2. Fraser D. Hypophosphatasia. Am J Med. 1957;22(5):730-746.
  3. Whyte MP, Greenberg CR, Salman N, et al. Enzyme-replacement therapy in life-threatening hypophosphatasia. N Engl J Med. 2012;366(10):904-913.