According to a story from The Tennessean, mother Melissa Hogan has been inspired by her son Case’s Hunter syndrome to start a nonprofit organization called Project Alive. The primary purpose of the nonprofit is to raise money towards Hunter syndrome research in order to help find new treatments and hopefully, one day, a cure.
Hunter syndrome is also known as mucoplysaccharidosis II. This is a type of lysosomal storage disease, in which certain substrates build up in the lysosomes of cells because the enzyme that is normally responsible for processing them is deficient. This inherited disorder primarily affects males. The symptoms of Hunter syndrome begin to appear before the end of the patient’s first year of life. Patients are often diagnosed late, as early symptoms such as runny nose, colds, ear infections, and abdominal hernias are not necessarily uncommon for infants. Many organ systems eventually become involved, causing symptoms such as poor breathing, joint stiffness, distinct facial features, enlarged spleen and liver, poor growth, skin lesions, and mental impairment. Those with the most severe symptoms may not survive past their mid teenage years. However, others may experience no mental problems and can survive into their 20s and 30s. To learn more about Hunter syndrome, click here.
Case is 11 years old now, and for the past seven years of his life, he has had to be put under anesthesia in order to receive spinal taps to help slow the progression of his disease. His regular treatment plan means that he is in far better condition than some other Hunter syndrome patients. He was able to get a special version of enzyme replacement that helps with the cognitive effects of the syndrome, which most patients do not have access to.
Melissa first started Project Alive four years ago. Currently, the organization is in the midst of what could be a pivotal fundraising project. Project Alive is planning to raise $1.5 million towards funding trials for a new treatment that some researchers think could potentially cure the syndrome. The goal is to have 100,000 people donate $15 each. The campaign will run until May 15th, which is National Mucopolysaccharidosis Awareness Day.
If you would like to donate to the campaign, click here.