I first learned of this rare recessive disorder mucopolysaccharidosis VI, or MPS VI from the story of 3-year old boy Trey Lane, who suffers from it.

Mucopolysaccharidosis VI, or MPS VI is a rare unpredictable disorder resulting from a deficiency of arylsulfatase B, thus preventing the degradation of polysaccharides. The excessive amounts of polysaccharides in the affected person’s body compresses soft tissues and bones and hinders proper growth of the bones. Most affected individuals have short stature, deformed facial structures, stiff joints, and corneal clouding.

Featured in the Arizona Central, Trey’s story captured media attention when his doctors told him that his $20,000-per-week treatment didn’t seem to be working (in delaying the progression of the disease). Trey hasn’t grown an inch or gained a pound in months. Trey soon met a 20-year old man who has been suffering from the same disorder and the two families found mutual support. Later, word got out about the young boy’s struggles and schools and other children began donating to his treatment. Next month, Trey will go back to Minnesota and try another round of treatments. The Arizona Central article didn’t mention the specific treatments for Trey, but a clinical trial for an enzyme replacement therapy using recombinant human arylsulfatase B (rhASB) recently found success.

Last month, three more patients treated with an experimental gene therapy reported improved vision. Add this to the first successful gene therapy for inherited blindness earlier this year and the science gets instant boost.

Despite years of work and resources devoted to it, experimental gene therapy had very little proven success in clinical trials. Some of the factors preventing it from effectively treating disease are the problem with viral vectors and the host’s reaction to the foreign object, in this case a virus. In 1999, a young patient participating in an experimental therapy for ornithine transcarboxylase deficiency (OTCD) died when his immune response rejected the virus. Four years later, a patient developed leukemia-like conditions.

This year’s clinical trials on the congenital blindness Leber congenital amaurosis (LCA) showed that gene therapy is safe and improved sight. The effects of the  new treatment lasted only for three months and are confined to the area of the eye where the new genes were inserted, so there is much work to be done.

I am a life-long sufferer of tinnitus but I consider myself to be one of the very lucky few.  Mine developed as a child and I adapted to it from a young age.  Although the noises, buzzing and whistling can be so loud I can’t hear people talking close up, it rarely, if ever, bothers me.  This is unlike my husband who, after years of hockey umpiring developed tinnitus from one too many player whistle reprimands and has caused him immense challenges ever since.  There is currently no cure.

I recently came across this article on the BBC website:

“Researchers at Addenbrooke’s Hospital Cambridge,UK  have discovered that lidocaine, the most commonly used anesthetic in the world, turns down the sound in two thirds of sufferers for roughly five minutes. Whilst the drug is dangerous and the effect transitory, the discovery is clear proof for the first time that there is a mechanism for turning off tinnitus.

The golden key is to find a drug that has suppressive effects of lidocaine without the side effects. David Baguley, Consultant Audiologist at Addenbrooke’s Hospital in Cambridge, UK hopes to see a drug available within 20 years.

In Germany, Neurologist Berthold Langguth believes the hearing cells in the auditory cortex (the area of the brain perceived with receiving sound signals)  in tinnitus sufferers are overactive and he is looking for ways to normalize them.

By running an electric current through sections of wire he creates a magnetic field.  When held over the head of a patient the magnetic stimulation reduces neural activity and diminishes the unwanted sound.  One patient has been effectively cured whilst others have found the volume of their tinnitus reduced.”

From my own experiences, there is something in both pieces of research. The only time my tinnitus completely disappeared for around 24 hours was when I received osteopathy treatment around my cervical (neck) region after a riding injury and embarrassingly passed out for a few minutes.  Coming round my tinnitus had gone after 15 years.  I can’t tell you what bliss it was to have complete silence ….. it then returned with vengeance! On the other hand my husband has always and continues to have incredibly good hearing, so research around hypersensitivity is also on the right track.

Elaine Warburton   www.geneticsandhealth.come