Meet the A-Team, Amy & Amber!
These two sisters are hard to keep up with! Both are huge fans of Disney, and if not on the go, love spending time with their dolls, reading books, playing legos, watching You Tube, and doing various arts and crafts activities. Amy loves playing with friends and being involved in girl scouts. Amber and Amy love being together and are always looking out for each other.
These sisters, their parents, and their growing A-team have walked with the Mighty Metabolites for Boston Children's the past 2 years; though have been donating and supporting other families and children at the hospital long before this. Over the past few years they have also done an annual toy drive which has resulted in significant toy donations to Child Life and the children and families at the hospital.
Meeting Amy and Amber you would never know what they deal with on a daily basis to optimize their health and mobility.
Both Amy and Amber were diagnosed with a lysosomal storage disease called mucopolysaccharidosis type 1 (MPS1), or Hurler Syndrome. MPS1 is a progressive disease which can present early in infancy in the severe type, or later in childhood or adulthood in other variants of the condition. Complications from MPS1 are numerous, though individuals presents with varying degree of disease involvement. Among some of the manifestations of MPS1 are skeletal anomalies, corneal clouding, narrowing of the spinal cord, hydrocephalus, and heart valve abnormalities.
Unfortunately, there is no cure for this condition and treatment can be burdensome. Those with the neonatal severe form are given a bone marrow transplant in efforts to prevent the neurological decline that occurs in this type. Although successful transplant may prevent the neurological decline, frequent multi system monitoring is still required Those with later onset disease are given a weekly intravenous enzyme therapy in efforts to slow disease burden and undergo frequent medical and surgical interventions to address complications.
Amy and Amber represent two of many of the kids in the metabolism clinic with rare and complex metabolic disorders. Minus the registration fee, all monies raised by our team will go directly back to support our families and their children.
Support the Metabolism clinic at Boston Children's Hospital by joining the Mighty Metabolites or making a gift to one of our team members.
The A-Team and all our kids and their families thank you!