In 2006, Annabelle was diagnosed with Mucopolysaccharidoses IVA (aka MPSIVA or Morquio Syndrome). Annabelle was only 4 months old when we started the diagnosis process and two months later we got the final diagnosis which turned our lives over forever. The most heartbreaking words I was told over and over was “there is no cure, there is no treatment” and “this disease is progressive and it will get worse with time”. It is painful to even fathom your child living a life of pain and surgeries and it was only going to get worse and more overwhelming with each year of life. However, I decided to not accept those words as our fate. We have stood strong, taken action, and raised ALOT of $$ for research. We know this is what it will take to change the course the disease. In 2015, our 1st hurdle in this difficult journey was conquered when the first ever FDA approved drug was available for all those living with MPS IVA. Annabelle was a participant in the pivotal clinical trial and our family testified to the FDA about the signiciant improvement in her life with the treatment called Vimizim produced by BioMarin. This is only a 1st hurdle….we have more to go. The treatment is awesome but it doesn’t treat everything and more reserach is needed urgently to find complimentary therapies that will continue to help Annabelle grow and survive. Join me NOW in the legacy to elminate the challenges of MPS. It is doable! The vision is there…we just need to push it over the finish line.
What Are MPS and Related Diseases?
Mucopolysaccharidoses (MPS) and related diseases are genetic lysosomal storage diseases (LSD) caused by the body’s inability to produce specific enzymes. Normally, the body uses enzymes to break down and recycle materials in cells. In individuals with MPS and related diseases, the missing or insufficient enzyme prevents the proper recycling process, resulting in the storage of materials in virtually every cell of the body. As a result, cells do not perform properly and may cause progressive damage throughout the body, including the heart, bones, joints, respiratory system and central nervous system.
While the disease may not be apparent at birth, signs and symptoms develop with age as more cells become damaged by the accumulation of cell materials. There is an estimate in the United States that 1 in 25,000 births will result in some form of MPS.
What Are the Major Characteristics of MPS and Related Diseases?
While the symptoms of the diseases may vary from one syndrome to another, there are similarities. Affected individuals may have mental retardation, cloudy corneas, short stature, stiff joints, incontinence, speech and hearing impairment, chronic runny nose, hernia, heart disease, hyperactivity, depression, pain and a dramatically shortened life span.
Is Research Helping Today’s Families?
Although there are currently no cures for MPS and related diseases, research is making great strides. Carrier detection, the development of replacement enzymes, and the possibility of gene therapy, are among today’s research themes and treatment options. Bone marrow transplantation has been considered successful for many, though relatively few individuals qualify for this high-risk procedure. We’ve made major advancements in research thanks to the fundraising efforts of the National MPS Society, its members, and friends.
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