On Thursday Dr. P told me about a rep that was going to come and see myself and Jason with regards to some genetic testing. I didn't think too much of this as I have been trying to get genetic testing done for years and also done so much research myself on genetic testing, geneticists, genetic companies etc. They didn't seem to exist. Well this guy arrived on Friday and had a chat with me. He said that he had spoken to Dr. P about Jason and that he was there to draw some blood from Jason and to send his blood to Germany for genetic tests. I couldn't believe this, I have been doing research for years and trying to see a geneticist and all of a sudden this guy was here and Jason's blood is on it's way to Germany. They will be testing for some rare conditions at no charge to us. This company will pay the costs. The company was actually set up years ago when the founder's son had a rare genetic condition and he too battled to get a diagnosis and help. At first they were running at a loss but are now receive funding from Government and other companies to assist families that have children with rare conditions. To assist with diagnosing and treatment. In Jason's case they will be testing for specific conditions. At the end of the day at least we will know if he has these or be able to rule out these conditions. So we are very excited by this. What an opportunity for us and wow at no cost to us. I am still in shock. These tests are going to cost the company quite a lot and we are so grateful that they found us!
Next month we will be going to Pretoria to attend a patient day for a metabolic conference that is happening from the 22nd to 24th November. The patient day is on the 25th November and we also have the amazing opportunity for the panel of doctors to review Jason's case. Again another wonderful opportunity for us and a step closer to helping Jason get diagnosed. There will be some doctors coming out from the UK and I am very excited that we will have some new sets of eyes looking at Jason and looking into his history and trying to help where they can. Thanks again to Rare Diseases South Africa and Kelly for giving us this opportunity and putting Jason's case forward for review. Unfortunately Jason's doctors won't be able to make the conference or patient day to represent Jason but we are busy getting all the paperwork and reports together. We are extremely excited by this opportunity and again can't believe that we are going.