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Cord blood transplant from brother saves his sister with rare disorder

After a successful cord blood transplant from her younger brother, six-year-old Neha is now enjoying her new life as a healthy child.

Neha’s parents noticed that Neha was very behind in meeting major growth and developmental milestones when she was only one year old. Neha was eventually diagnosed with Maroteaux–Lamy syndrome, also known as polydystrophic dwarfism, mucopolysaccharidoses VI, or simply MPS VI, a very rare metabolic disorder caused by the absence or deficiency of arylsulfatase-B enzyme.

Mucopolysaccharidoses, of which MPS VI belongs, is a group of metabolic conditions characterized by the lack of lysosomal enzymes essential to carbohydrate breakdown. At the cellular level, this can be very damaging to babies afflicted with the disorder, though they may initially appear well. As the cellular damage progresses, growth and development become terribly stunted which eventually affects physical appearance. Symptoms include a short trunk, poor posture, limited range of motion and vision problems. Complications like umbilical or inguinal hernia and heart valve defects may also develop. Because of the progressive nature of MPS and its accompanying complications, those who are suffering from more severe symptoms generally do not live beyond age 20. The standard treatment of this condition often requires a team of specialists to coordinate and comprehensively plan ongoing medical care to manage the symptoms. Other options include enzyme replacement therapy and stem cell transplant.

In the past decade, Dr. Joanne Kurtzberg and her team of experts at Duke University have shown that cord blood stem cell transplants can treat metabolic storage disorders like MPS.2 Over the years, international guidelines for MPS disorders were proposed and successful transplants for inherited metabolic diseases were reported.3 Other studies have also suggested that fully matched umbilical cord blood is one of the highly preferred donors for such treatments.4 Many studies have shown improvements with favourable outcomes and ongoing studies will continue to evaluate treatment prognosis.(2-8)

Neha’s diagnosis saddened her entire family. The doctor suggested a stem cell transplant from umbilical cord blood taken from a sibling, but there was no suitable donor for Neha at that time. After numerous consultations with doctors and experts, Neha’s parents decided to plan a second child so that a cord blood transplant could be an option. Eventually, their second baby will be the source of umbilical cord blood stem cells for Neha.

In January of 2016, several years after Neha’s brother was born, Neha received her brother’s cord blood stem cells for her treatment at Apollo Hospital in India. Neha has since graced the 200-day mark after her transplant, which indeed signifies a successful stem cell treatment.

Like Neha’s family who were initially hesitant with the transplant, most people have not fully realized the benefits of umbilical cord blood stem cells through family cord blood banking. If a family has a history of life-threatening disorders that are difficult to treat like lymphoma, leukemia, metabolic diseases and autoimmune conditions, the chance of needing a future cord blood transplant is significantly higher. Fresh cord blood can be collected from any baby born into the family which will be stored and cryopreserved for future use. Like Neha’s sibling who provided the stem cells for Neha’s treatment, umbilical cord blood can be collected from babies immediately upon birth which can save countless lives even when they are not needed until decades after.

Time flew fast, and Neha’s family happily noticed that she is coping quite well after her cord blood stem cell treatment. Neha, now with obvious improvement, can speak fluently and with ease. Her body demonstrates steady growth and she is more responsive both physically and emotionally. Because of the life-saving cord blood taken from her brother, Neha’s quality of life has finally improved. For the full article about Neha’s story, please visit Parent’s Guide (1).

    Further information:
  1. Parent’s Guide (2016). https://parentsguidecordblood.org/en/news/girl-metabolic-disorder-has-life-saving-cord-blood-transplant-her-brother
  2. Prasad VK et al. (2008). http://www.bloodjournal.org/content/112/7/2979.full
  3. Lee at al. (2000). http://www.nature.com/bmt/journal/v26/n4/full/1702528a.html
  4. Aldenhoven et al. (2015). http://www.sciencedirect.com/science/article/pii/S1083879115001184
  5. Kurtzberg J (2016). https://clinicaltrials.gov/ct2/show/NCT02254863
  6. Kurtzberg J & Prasad VK (2010). https://www.ncbi.nlm.nih.gov/pubmed/19919654
  7. Da Costa V et al. (2012). https://www.ncbi.nlm.nih.gov/pubmed/23165382
  8. Kurtzberg J (2015). http://www.bloodjournal.org/content/125/10/1518.long?sso-checked=true
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