Therapy Helps Regenerate Child’s Underdeveloped Bones

Helen Holmes April 25, 2013

When she was just three months old, Janelly Martinez-Amador was diagnosed with a rare genetic disorder that caused her bones to deteriorate. At the age of 3, she had no visible bones in x-ray scans. Doctors thought she wouldn’t survive. But dear Janelly is now 7 years old, can wave her hands, move her head, smile, and can go to school. Thanks to a new therapy.

Janelly has hypophosphatasia (HPP) – a metabolic disease that is estimated to affect one in every 100,000 children. This genetic illness mainly affects the bones and teeth, and is caused by an enzyme deficiency that prevents the bones from absorbing essential nutrients such as calcium and phosphorus, making them vulnerable to pain, injury and deterioration. HPP can be very life-threatening. More than half of babies born with the disease do not survive beyond their first birthday.

Janelly was one of the 11 children who are currently receiving an experimental drug therapy which restores the missing enzyme in the bones, as part of a clinical study by the Monroe Carell Jr. Children’s Hospital, also known as Vanderbilt Children’s Hospital at Vanderbilt, USA. Among the group, she had the worse condition. The researchers were very surprised of how well Janelly responded to the treatment. "It’s wonderful that you had the faith that a treatment might come along. For many years, it seemed there was nothing that was very helpful for this disorder," said Michael Whyte, the lead investigator of the study and a medical-science director of the Centre for Metabolic Bone Disease and Molecular Research at Shriner Hospitals for Children in St. Louis. He added that they were fearful that Janelly’s case was so severe that the therapy may not work. But after hearing about the visits and looking at her x-rays, they were so thrilled to hear about her progress.

From No Bones to Bones

Her parents were very happy and hopeful that Janelly’s progress will continue. “If you saw her in 2009 and see her now, it’s not the same Janelly” reported her mother, Janet Amador. "She used a ventilator, an oxygen mask – many machines to help her breathe." After 8 months of undergoing treatment, Janelly’s parents started to feel traces of bones in the child’s fingers which had been completely boneless. At 18 months, her x-rays showed visible development of her rib cage. Now, Janelly is too far from her condition when she was just an infant. She now sits in a wheelchair and is able to turn her head to gaze at other people. She smiles and waves her hands – things she couldn’t do before. She’s also attending school which is situated near the hospital. Soon, doctors would be able to remover Janelly’s tracheostomy tube which prevented her from speaking. Janelly’s doctor, Jill Simmons, M.D., a paediatric endocrinologist at Vanderbilt, said it is the most impressive thing she has seen as a doctor – “from no bones to bones”.

With the success of the new therapy, there will be bigger hope for parents around the world whose children are suffering from HPP. The study was published in the New England Journal of Medicine.

Source of this article:

Enzyme-Replacement Therapy in Life-Threatening Hypophosphatasia