We were fortunate to meet two fathers whose children were diagnosed with Pearson Syndrome late last year. After 5 years of being the only Australian with the disease, Aidan now has company. It goes without saying that for the sake of these families we would rather they didn’t have the disease but there is something to be said for solidarity in numbers.
Without giving away too much personal information, the two fathers had travelled to Sydney from interstate to meet with a doctor from Boston who is conducting a clinical trial for the disease. I didn’t plan to meet with the doctor. Not to be a defeatist but there is little hope now that a cure will be found in time to save Aidan’s life as the damage to his body is already irreparable. However, I did plan to meet these two incredible dads who have taken over the fight when we have lost the energy to do so ourselves.
I’ve discovered on this journey that parents deal with a terminal diagnosis very differently. Some retreat into themselves while others fight to make a difference and I can see in these fathers’ eyes that they are of the latter.
As it happened, I did get to meet the doctor and it was wonderful to talk to all three of them so openly about this disease. To not have to say ‘it’s a genetic disease’ because people don’t understand mitochondrial disease is a rare occurrence. I felt a renewed sense of energy.
One of the hardest things about Aidan’s disease is that all the information we have comes from our Facebook group. Not to criticise Facebook too harshly, but it is not a scientific and reputable forum for collating such vital information. What became obvious when speaking to this doctor is that even the so-called experts in the field do not know many of us exist, let alone what treatments have been successful and unsuccessful, leaving our doctors’ to experiment almost on a daily basis.
There are many reasons for this. As a rare disease, it’s hard to get funding for such research. There’s also the fact that there are so few of us spread across the world and despite living in a global society there are few ways for doctors to report such occurrences. However, there is also an element that saddens me. Many doctors have incredible egos and as such do not seek out advice from other doctors on the best ways of treatment. Despite us parents attempting to connect them all, there seems little interest from some in even contacting overseas doctors.
I understand that funding is best spent where it has the potential to reap the most rewards. With thousands more children diagnosed with cystic fibrosis and leukaemia than Pearson Syndrome it makes sense that as a society we invest more in these diseases but we’re not asking for money for research. My hope would be that some money could be found to pay someone to collate all this information we as parents hold, if for no other reason than to give future families a better idea of what to expect. We can’t even begin to research a cure without a better understanding of the disease.
I’ve said it many times but it breaks my heart to think that Aidan’s life will be in vain. I pray that this doctor is able to find the time and money to bring all our information together so we can make a difference for the future.