Andrea Pelzer is an active, little dancer who loves both ballet and modern dance.
She used to be a national gymnast, lives in Durban, South Africa, and is well-
loved by her older brother and sister.
Andrea, now 13 years old, was diagnosed with Neurofibromatosis type 2 when she was only 9 years old. She woke up one morning with the right side of her face paralyzed. Since NF2 is such a rare disease, it took doctors two months to determine the cause of the paralyses. This was a very fearful and anxious time for Andrea and our family. When it was determined that Andrea has tumors on both her left and right hearing nerves, as well as several other brain and spinal tumors, it was a devastating day.
Very little is known about NF2 in South Africa. We only know one other adult who has been diagnosed with NF2 in South Africa. Thus, it has been a very difficult, and at times lonely, journey for our family. NF2 Biosolutions has connected us to both hope and a community of caring and committed people. When Andrea was first diagnosed, we consulted with local doctors in South Africa, and while everyone was very interested in her case, they did not know much about NF2. Andrea was due for surgery with a local neurosurgeon in 2016 who thought it would be best to remove the tumors as soon as possible. But a week before surgery, Andrea tested positive for a bleeding disorder called Von Willebrand, and the operation was cancelled. Due to the complexities of both NF2 and the bleeding disorder, we were told that no doctor in South Africa would touch her.
For the last 18 months, Andrea has been monitored by a top NF2 specialist at Massachusetts General Hospital (MGH), the original and largest teaching hospital of Harvard Medical School and a biomedical research facility located in Boston. Although it is financially challenging to consult with doctors in a country where you don’t have any medical insurance, especially in the United States, our family will do whatever it takes to continue consulting with the best doctors in the world.
Unfortunately, consulting is all that is possible at the moment, since there is no cure for NF2. Our only options for slowing down this deadly disease are electing for life-threatening brain and spinal surgeries or chemotherapy. These treatments are not a cure but only suppress the tumors and have long-term negative effects.
In the last three years, Andrea’s tumors have doubled in size, and one is already touching her brainstem. Although she is still doing really well with no hearing problems or balance issues – both symptoms of NF2 – we are desperate for a cure. Without a cure Andrea’s tumors will continue to grow and damage her nerves.
We have now come to the realization that our only hope for a cure is in gene therapy. This method has had success in combating other rare genetic disorders as it has the potential to help correct the faulty gene in NF2 patients. However, serious and continuous research and testing needs to be done. Neither is happening right now, but we are hopeful that NF2 Biosolutions will help to lead the way and find a cure for our daughter.
As parents, we want to dream about our daughter’s future and give her the future that she and other NF2 patients deserve. As the NF slogan says: “Never Give Up.” We hope you will join us in fighting for Andrea’s future.
Accelerating Novel Therapy Research for Neurofibromatosis Type 2