Surviving Hurler’s Syndrome
Sixteen month old Marcus Espino was diagnosed on July 1994 with a grave genetic storage ailment known as Muccopolysaccaridosis 1H, also called as MPS1 or Hurler’s syndrome. The doctors informed his parents that his sole likelihood of survival was if underwent a bone marrow transplant or BMT.
The onset of Hurler’s syndrome is the result of the body’s incapability for producing a particular enzyme known as alpha-iduronidase. Generally, the body utilises enzymes for processing proteins, sugars and other matter alongside breaking down and reprocessing cells following their death. However, in kids having Hurler’s syndrome and other storage disorders, the absent or deficient enzyme thwarts this normally occurring process from taking place, leading to depositions occurring in nearly all the cells in the body. As an outcome, cells fail to function effectively, and might lead to progressively occurring overall bodily damage that includes the heart, bones, joints, respiratory and central nervous system (CNS) and finally leading to an eventual untimely death.
Rick Espino, the father of the child and also a fire captain at the California Department of Forestry and Fire, states how a decade ago, they were unaware of any other families facing analogous ordeal. However, ever since his son Marcus was diagnosed with Hurler’s syndrome, he has been actively involving himself with the MPS Society – a non-profit organization that tends to kin that are faced with storage disorders.
Marcus’s parents were ready to even shift base to the Minnesota when they came to know about a doctor residing there who was capable of performing bone marrow transplants for children that had developed Hurler’s syndrome. However, the doctor from Minnesota provided them with a referral to visit Dr. Morton J. Cowan, a well-known BMT expert from the UCSF Medical Center’s Children’s Hospital.
During October 1994, Marcus underwent his foremost transplant at the UCSF Hopsital, during which he received bone marrow from a donor unrelated to him and administered chemotherapy after this procedure.
During bone marrow transplants, the malignant marrow is swapped with healthy marrow infused intravenously via the bloodstream. The healthy marrow would be obtained from a donor. The objective of the transplant is to reinstate harmful or marred bone marrow stem cells with healthy bone marrow cells form an appropriate donor. The transplant usually is performed subsequent to a conditioning procedure that involves elevated chemotherapy and at times radiation dosages.
Regrettably, 6 months following Marcus’s BMT treatment, the donor cells count in Marcus’s blood plummeted to dangerous lows leading to dearth of the enzyme as a consequence. Due to this Marcus started exhibiting signs of Hurler’s syndrome.
Dr. Cowen stated that in spite of stabilization of the donor cells count to lesser than ten percent, apprehensions rode high regarding whether they would suffice for safeguarding Marcus from the detrimental effects of the Hurler’s syndrome. As the donor cells had already been well-imbibed by Marcus’s body, the same donor would be the ideal strategy for future too. Hence paying heed to Dr. Cowan’s advice the Espinos came to the decision that in order to optimise Marcus’s survival chances a second BMT would become necessary. The second BMT was conducted in July 1995 using the bone marrow of the same donor.
It was a tough decision to take as it was considered quite risky to conduct another BMT. However, Dr. Cowan’s persistent wary and conventional approach to Marcus’s care made his parents believe that a second BMT was the best decision for him.
The procedure turned out to be a life-saver for Marcus. Presently, a decade later, Marcus is 12 years old and a seventh grader at Rancho San Justo Middle School, Hollister, California, is just like all the other kids in his age group. Though the BMT aided in halting the detrimental effects of Hurler’s syndrome further progressing, Marcus still ailed from acute damage to his joints and bones.
Rick states that in spite of all the orthopaedic issues Marcus has been enduring since a long time, he still endeavours to be as normal as any kid could possibly be. Marcus engages in a host of physical activities like playing T-ball, donned the role of a goalie during youth soccer, knows riding a bike, a scooter and also has tried his hands on rollerblading.
This is noteworthy when one takes into account the myriad of operative procedures that Marcus underwent for treating the skeletal harm, particularly to his legs caused due to Hurler’s syndrome. When he was 4 years old, staples were inserted within his legs, just beneath his knees for stabilising the acute condition of his knock-knees. Though his condition improved, this put immense pressure on his knee caps that had a major affect on his hips and spine and his walking capability.
Due to this, a double hip surgery was performed on him. When he was eleven, he additionally needed a right foot correction due to the toes getting pulled inwards by the tendon, leading to their curling. Marcus needed a cast, followed by a brace and then even had to wear a special orthotic foot ware for stopping his feet from getting curled. He needs regular physiotherapy sessions wherein he does leg strengthening exercises and also does occupational and speech therapy for three sessions during the week.
Though transplant could be a life-saver for such kids, there is manifold damage done by Hurler’s syndrome, particularly targeting the joints that tend to be progressive in nature.
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