Tag: Gorlin Goltz Syndrome

Reece`s story:

Reece Trumpelmann was diagnosed in 2016 with Gorlin Goltz Syndrome.

After receiving a bump on his jaw while playing on a jumping castle, he was taken through to Steve Biko Hospital where he was X Rayed and tested extensively. The doctors discovered he not only has Cancer, but Gorlin Goltz Syndrome, BCCNS – an extremely rare condition which is virtually unknown in South Africa.

In South Africa, there are only 3 known cases, and incidences reported worldwide range from 1 in 50,000 to 1 in 150,000. Gorlin Goltz affects multiple organs and need a multi-disciplinary approach. After many months and hugely expensive genetic tests, it was established that Reece has the PTCH1 and Sonic Hedgehog Pathway genes present, so gene therapy is not an option. 

“Gorlin Syndrome, also known as Nevoid Basal Cell Carcinoma Syndrome, is a condition that effects many areas of the body and increases the risk of developing various cancerous and non cancerous tumors. Gorlins is caused by the loss of functions due to mutations in the tumor suppressor gene Patch1 which encodes the Sonic Hedghog Pathway. It is an autosomal dominant inherited disorder.

You get different levels of this syndrome but unfortunately Reece has been hit hard with most of the criteria. Currently, some of his symptoms are: Multiple odontogenic tumors in his jaw which is attacking him constantly, he has had over 40 removed and lost 16 teeth, he has had multiple bone grafts as well, Multiple basal cell carcinomas, Extensive Calcification of the flax celebri, Scolios, Kyphosis, Bifid rib, Major sinus issues, Deviated Septum, Endocrine system problems, Heart problems (fibroma), GERD stage 4, Palmer amd Planter pits, Hydrochephylys, Glaucoma, and Sleep apnea.

His current specialists are: Pediatric oncologist, Geneticist, Maxilofacial surgeon, Neuro Surgeon, Cardiologist, Dermatologist, Endocrinologist, Ophthalmologist, Specialised Dentistry, ENT, and Plastic Surgeon.

As you can see, it`s a lot because it`s a multi system disease. Reece is on a top medical aid (we are really struggling to pay it) but unfortunately we have huge co-payments and bills with regards to all his treatment and needs. We take it one day at a time with this kiddo because today he can be great but tomorrow can be a different story.

Reece has a chronic illness and it is very rare. We are struggling to keep on top of it because of all his symptoms as well as the financial strain. However, I will never ever give up fighting for this warrior. He has been to hell and back. He has had more operations than I can remember since he was diagnosed in Feb 2016.

This syndrome is extremely rare and because of that we often find ourselves having to educate Doctors. We have finally after a long road found a magnificent team that truly has Reece in their best interests. I am so grateful. Reece needs so many things and tests and procedures done at the moment, and because of the finances, I just cannot do it. Our medical aid runs out in Feb already and as you can imagine, the bills are huge. Some things are not covered at all.

Reece as a person.
Reece is a 15 year old boy who has been through more than most of us adults can handle. And he does this with the courage of a lion. He is truly a fighter. And such a beautiful soul.

All I want for Reece is happiness and comfort. I want to try alleviate his pain and discomfort. I am just a mom fighting for my boy. Thank you for reading this and if you feel in your heart please share his story. We truly need help in any way or form. God bless you all.” – Marsha Trumpelmann

Supporting our fundraising initiative is way to get involved and make a significant difference in this young man`s life. Together we can change his world, one bracelet at a time!

Alternatively, please consider a donation. Any and all donations welcome. REF: Reece Trumpelmann.

Like and follow Reece gorlin goltz syndrome journey on Facebook for live updates on his progress and journey.

Fundraising for Reece Trumpelmann