Last updated 24th May 1996
When James was diagnosed with TPI deficiency on April 27th 1994, we were told that all the previous known cases world-wide had died in early infancy. The diagnosis was given to us by Dr Andrew Will, the Consultant Haematologist and Dr Clark, the Consultant Neurologist at Royal Manchester Children's Hospital. They informed us of the case of a Hungarian man living until the age of 23 years with TPI deficiency, they had very few details and were not sure whether he was still alive.
Some weeks later Professor Bellingham gave us the name of Professor Susan Hollan of Budapest, Hungary. She was responsible for the Hungarian, who we later found out to be 2 TPI Brothers. Incredibly the elder brother, now aged 25 years is unaffected neurologically by TPI and has normal health. His younger Brother aged 18 years is not so lucky, he became affected at the age of 12 years and is now partially disabled, but since then he has not become any worse.
The reasons for the Hungarian family being less affected by TPI deficiency are unknown. They do however possess a different mutation within the TPI gene, theirs is not the usual codon 104 mutation. The Hungarian Brothers may hold the key to unlocking the secrets of TPI deficiency, for which one day we are sure there will be a treatment or cure.
We made contact with Professor Susan Hollan and agreed to fund TPI research in Hungary under her direction, her work is being done in collaboration with Professor Bellingham in London.
For more information about the Hungarian TPI research, read the following:
Hungarian TPI Research by Professor Susan Hollan