17 Sep It’s not easy no matter how it may look – Day 1 here we go!
As a mom with two beautiful special needs daughters I have always lived by the rule to stay positive and stand by our decisions no matter how difficult they may be. The decisions of what doctors to see and trust. What testing we feel is right and will lead to answers for all of our questions. Having a rare disease is like walking around with a big fat question mark everyday and Rick and I as parents have to trust our gut and listen to our doctors and make the choice we feel is right for our girls. Do we always know the right answer, of course not! How could we? No one does, that is why its called a RARE disease. When Cali was one years old we had to make the hardest decision of our lives. I cried, prayed and almost lost my mind over it. We chose to have our little baby go through a brain biopsy. What parent would ever want to put their sweet little angel through that? We felt we had to. At the time it was our only option left in order to find out what was wrong with Cali. She couldn’t hold her body or head upright. She was having seizure like movements but they weren’t seizures. She wasn’t hitting any of her milestones and falling quickly behind. The doctors were out of options after we had gone through every test possible. She successfully made it through the surgery but again they didn’t find any answers. What a crazy hard and gut wrenching decision that was but we made it together as a team and made it through it as a family with the love and support of our family and friends. Thirteen years later when Cali was 14 years old we finally found a diagnosis through Exome Sequencing. Not only a diagnosis for her but for Ryann our third daughter who unfortunately was also born with this rare disease. Test after test, doctor after doctor, tears and more tears and BOOM we found out what was wrong just by all of our family submitting blood! I cant tell you how happy that makes me feel for other families now struggling with a rare disease. It’s truly amazing the advancements in medicine to now provide an opportunity to find answers without having to do something as invasive as brain biopsy. It is an absolute blessing and miracle in my book because we lived through so many years struggling the hard way. Once we found out what our disease was our bubble was burst when we found out there wasn’t any treatment. There was nothing we could do. We knew that Cali and Ryann inherited the mutated copies of the NUBPL gene from Rick and I. We knew that they have a rare form of mitochondrial disease. But now what? Nothing. We just continue living with the question mark. We try different diets, give them supplements, stay active in therapies, keep them focused in school, provide unconditional love and support. It’s not easy no matter how it may look. We stay happy and hopeful, share our happy times but trust me there are so many battles and fears going on. The fear of our girls’ futures, the fear of the disease progressing (which mitochondrial disease do), the fear of what will happen after Rick and I are gone. Who will take care of them? Who will brush their teeth, comb their hair, help them with every step of every day living? It’s sometimes too much to take in. It’s just too hard to think about it because it scares the living daylights out of me. Which brings me now to where we are at today. Today we take Cali and Ryann to UCSD to for their first dose of trial drug RP-103 or otherwise known as Raptor Trial. Once again we are faced with a very difficult decision that is scary to say the least. Do we trust the doctors? Yes. Do we trust the process of the trial? Yes. Can we stop at any time if we feel the girls are reacting in any negative way? Of course! Is it still hard and scary? Absolutely!!! We have to trust our guts and we have to do what we feel is right as their parents. We love our girls more than words descibe and would do anything for them. When we were diagnosed with this rare disease I never thought I would see the day that there would be treatment available to stop the reproduction of the bad cells. I couldnt imagine this day yet here it is. I know it is exciting and I know it is the right. So here we go … day 1 of the 5 month trial. Once again I am asking our friends and family for support, prayers and showers of hope. Hope for another miracle in the advancement of medicine. A treatment that can stop this terrible disease from progressing and provide a better quality of life and better future for our sweet little girls. They deserve it and so do others struggling with this mitochondrial disease.