My children were amongst the lucky ones. They had the right type of MPS disorder, they were able to get bone marrow transplants despite no relative matching bone marrow antigens, and they survived and have flourished, despite Hurler syndrome.
In my experience, many do not survive, many do not find donors, and many do not flourish. My middle child has cardiological issues. She has moderate mitral and aortic valve leaks but, they are both stable. She is lucky. She had severe scoliosis, but she was able to have rods and pins put in her spine to straighten it, freeing her from pain. She is lucky.
My youngest daughter has oesophageal issues. She was able to have surgery to repair the damage. She is lucky. She had severe scarring on her corneas causing blindness. She has a wonderful ophthalmologist who has given her some of her sight back and continues to improve her eyes. She is lucky. Many children with MPS are unlucky.
Mucopolysaccharidosis syndrome is difficult for all those involved. It is difficult for the parents to watch their child go from a bright, happy child to someone who mentally is not there anymore. It is difficult to watch your child in pain and not be able to do anything for them.
Added to this burden, is the financial costs involved, be it treatment or daily living. Lost income and travel costs can add up fast. Special chairs, beds, and other devices are only partially funded by the government. It is difficult for the extended family to watch their loved ones struggle emotionally and financially. It is difficult for the doctors and nurses who see these beautiful children, knowing what their future holds for them. Most importantly it is difficult for the children.
Research, despite being scarce, has shown to the medical community that there are viable treatments or the potential for viable treatments for those suffering from MPS disorders. Like many research studies, the research on mucopolysaccharide disorders is pertinent to other inherited disorders such as muscular dystrophy or Tay-Sachs disease. If you can change the genetic component, or introduce the enzyme missing in one disorder, it paves the way for other disorders to come to a cure.
More funds need to be made available in Canada for research into viable treatment options and preventative measures. Early detection in infancy needs to happen so these children have a fighting chance at having a good quality of life. MPS disorders are expensive to health care systems, in time and in money. We need to spend more money on preventative measures so we can save money on treatment costs.
Disclaimer This was written as a college paper. Any and all comments on these web pages are my personal opinion. I am not a medical practitioner, nor do I claim to be one. Use this site at your discretion and consult a healthcare professional if you feel someone you know has the symptoms listed.