Reece Trumpelmann was diagnosed with Gorlin-Goltz syndrome, a rare autosomal dominant disorder, and could really use your help.
After 10 years of seemingly unrelated symptoms such as hydrocephalus, hydrocele issues and an enlarged cranium, Reece Trumpelmann was diagnosed with Gorlin-Goltz syndrome (NBCCS) at the age of 11.
Gorlin-Goltz syndrome is a genetic disorder which affects many parts of the body.
Reece's conditions include:
- Jaw cysts.
- Calcification of the meninges.
- Problems with the endocrine glands.
- Nervous system issues.
- Skin cancer
- Issues with skeletal bone structure
Reece has undergone 12 tests at different specialists over the last month.
We are fighting against time to raise funds that will help us have tests run that may ensure effective early warning and treatment of symptoms associated with Gorlin-Goltz syndrome.
Reece was being treated at Joburg General Hospital to help keep costs low but as there are such a variety of affliction caused by the syndrome, many doctors have to be consulted and many costly tests and treatments required.
From February 2017, Discovery Health has allowed Reece onto medical aid costing R7200 per month. We are very excited that Reece will be treated and tested at a private hopital in future. There are no Gorlin Goltz specialists in South Africa so ideally we would like to meet with a specialist overseas but currently this is a longer term goal.
Any contributions will help pay for the medical costs and contribute towards the fund and hopefully motivate further research that could help others that have not yet been correctly diagnosed.
Feel free to contact Marsha ([email protected] or +27 83 712 7761) if you would like to donate any consumable items or UV protective clothing.
Thank you for any and all of your help!