Hello everyone! It has been a long time since my last update. This means good news. Trey continues to do well. There are little blips that come up in terms of concerns and worries, but nothing major. However, I know it is time to update when people start asking how Trey is doing and asking if we are still researching
Genetic Condition Caused By Enzyme Deficiency
Missing or deficient enzyme (iduronate-2-sulfatase – I2S) causes cellular waste from the cells to store in the bones, tissues, organs, and muscles. This disease is characterized as a lysosomal storage disorder.
Lysosomal Storage Leads To Progressive Symptoms
Virtually all bones, muscles, organs, and tissues in the body are affected by I2S deficiency, leading to progressive, multi-systemic and debilitating symptoms.
Treatment IS Available
The FDA, the European Commission, and Health Canada have all approved a treatment for Hunter Syndrome. Developed by Shire Pharmaceuticals, this enzyme replacement therapy (ERT) delivers a synthetic version of the I2S enzyme into the bloodstream and helps to dramatically slow down the disease.
Heart and Airway Disease
People suffering from Hunter Syndrome can develop respiratory failure, severe sleep apnea, and upper airway collapse. Affected individuals may also develop numerous and recurrent respiratory infections and a thickening of the heart valves.
People with Hunter Syndrome may have a wide range of skeletal symptoms. These can include shortened stature, bone deformities, carpel tunnel syndrome, and multiplex dysplasia.
Usually common in the second decade of life, hearing loss can be progressive and severe.
Eye and Vision Issues
While common in many other forms of MPS, it is rare for people with Hunter Syndrome to develop corneal clouding and a debilitating decrease in vision. Night vision can also become an issue for MPS II patients.
Brain and Cognitive Impairment
People with Hunter Syndrome may experience cognitive decline, though it will be difficult to diagnose this impairment until age 4-6. Patients may also suffer from hydrocephalus.
Patients battling Hunter Syndrome often visit numerous specialists to help manage their disease. These can include, but aren’t limited to, MPS Genetics Specialists, Neurologists, Ophthalmologists, Orthopaedic Specialists, Cardiologists, ENTs, Pulmonologists, and Rheumatologists.
In almost all cases of Hunter Syndrome, patients need multiple surgical procedures. These may include skeletal corrections, heart valve replacements, and other procedures.
Studies have shown that endurance of affected individuals is impacted greatly due to the progression of the disease. Endurance has an impact on all facets of life. Recent clinical trials have shown a significant increase in endurance for all patients receiving enzyme replacement therapy.
Gene Therapy for MPS II - A Curative Solution?
There are numerous Gene Therapy projects being studied in research labs around the world, with a few promising ones almost ready for clinical trials in humans. These gene therapy approaches to dealing with Hunter Syndrome have been shown to stop and correct the vast majority of symptoms, including cognitive decline, in the lab setting. Contact us directly so we can share any information we have.
Other Innovative Projects
Shire Pharmaceuticals currently has a clinical trial underway that delivers enzyme directly to the brain of patients suffering or at risk of suffering from cognitive decline as a result of the disease. Phase I/II results have looked impressive and a Phase III trial is currently underway.
Dear MPS II Fund supporters, It has been 6-months since I posted an update on Trey’s website and longer since I sent out an email. I apologize for my silence. So much has happened in the last year. Our family spent a year in Los Angeles so I could pursue my dream of training as a Narrative Therapist. We are
There has been a LOT going on in our MPS II world as of late, funding an MPS II research grant being one of the lot! Funding research provides hope, excitement, and the possibility that perhaps our sons with MPS II (including the yet to be diagnosed sons), might have a different path. We need hope like we need air.
Together, We CAN Make a Difference!
The MPS II Fund’s mission is to fund innovative research projects that aim to find a cure for Hunter Syndrome, a rare, debilitating, and devastating disease.
To do this, we host many fundraising events throughout the year and accept donations online and through the mail. We are very proud of the fact that 100% of all donations go directly toward our mission to support research aiming to find a cure. All donations receive a charitable tax receipt, delivered through email.
If you would like to donate online, follow the link below and select “MPS II FUND”.
Thank you for your tireless support!Donate Now!