Girl with metabolic disorder has life-saving cord blood transplant from her brother

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By the age of one year old, Neha started missing major growth milestones that a normal baby would achieve in infancy, and that’s when her parents discovered that there is an abnormality. Neha was diagnosed with a rare metabolic disorder called mucopolysaccharidoses VI (MPS VI).

The MPS diseases are storage disorders where the patient’s body lacks lysosomal enzymes to properly break down carbohydrates in their cells. Babies with the MPS genetic defect seem normal at first, but as cellular damage accumulates they fall behind normal growth and develop a distinctive appearance. Common symptoms are short stature, skeletal dysplasia, motor dysfunction, heart defects, and visual difficulties. Patients with MPS metabolic disorders become progressively worse and do not survive past their second decade of life.

The diagnosis came as a big shock for the family and they were clueless as to how to help their little angel. Neha’s father Mahendra said “When we got the news our world stopped for a while. We met the doctor and they asked us to go for a stem cell transplant, but we were clueless if we would ever find a donor!”

It is only within the past decade that Dr. Kurtzberg’s group at Duke University demonstrated that storage disorders could be successfully treated with cord blood transplants. The cord blood transplant is able to correct the patients’ metabolism so that they create the enzymes they need to clean their cells and their neurological conditions improve.

Just a couple of years after her baby brother was born, the stem cells from his umbilical cord blood were transplanted into Neha in January 2016, at Apollo Hospital in Chennai, India. Neha has now passed her 200 days milestone post-transplant.

Neha has managed to talk fluently, and she is now physically and emotionally more responsive with her body showing steady growth. Her father said, “Neha is doing really well, she has coped with the transplant and has sailed through it all, it feels like a new birth of our daughter.”

Without them my daughter would not have survived for too long. There would have been a vacuum in our life forever if our daughter would not have been treated.”  Neha is enjoying her new life.

MORE INFO parentsguidecordblood.org (November 2016)