Wednesday, February 27, 2013
World Rare Disease Day is tomorrow! Here is our speech about HOPE!
World Rare Disease Day is tomorrow !!! Rick and I were invited to speak at an event. Below is our speech about HOPE! We are excited to share it with you and the world in honor of Cali, Ryann and other families struggling with Rare Disease. Cristy: Hi everyone, my name is Cristy Spooner and I am here today with my husband Rick, my mother in law Judi and our three daughters, Cali, Raelyn and Ryann. We were invited here to share our story with you. Two of our daughters have a rare disease. Our beautiful Cali was born in 1998. At four months old she started to shake her head uncontrollably like she was having seizures. We brought this up to our pediatrician at the time and she didn’t show too much concern. We wanted a second opinion. This new pediatrician took one look at Cali’s reflexes and asked us point blank if Cali had Cerebral Palsy. I was floored! I adamantly said no and called Rick to share this scary news. He reacted the same as I did. We were both dumbfounded and confused. We didn’t know much about Cerebral Palsy and we wanted to be in denial. Over the next months Cali’s tremors started getting worse to the point to where we actually had to call 911 because we couldn’t stop her from shaking. She was violently shaking and her eyes would roll to the back of her head. It looked like she was having a full-blown seizure and we couldn’t get her out of it. We were admitted right away and the testing began. At this point, Cali was only 8 months old and she had to endure test after test to try and see what was going on. Every test, including the video EEG, came back showing no signs of seizures. We didn’t have any explanation as to why Cali wasn’t able to sit up or crawl and why she was having these seizure like movements. We saw several doctors and neurologists and all they could tell us is that her MRI showed damage to the cerebellum. They had NEVER seen an MRI like hers before. Whatever our little girl had was very rare. Right before Cali’s first birthday and after we had gone through every other test possible, we hesitantly agreed to have a cerebellum biopsy. This was a very difficult decision. No parent wants to cut out a piece of their baby’s brain. We were so scared! The biopsy confirmed damage to their cerebellum. However, we still had no diagnosis. Cali was falling more behind in meeting her developmental milestones. We knew something was terribly wrong and the doctors were out of ideas. We went ahead and started Cali on intensive therapy. Her seizure-like movements oddly stopped but she was still very far behind developmentally. A few years later we had a connection to the Mayo Clinic in Rochester, MN. We were able to get Cali in to see top research doctors there. She went through the same battery of tests again. The neurologist at Mayo said the same thing: he didn’t know what was going on with Cali. Whatever she had was so rare they couldn’t find an answer. We saw a geneticist at Mayo as well. She told us in her professional opinion it didn’t seem to be anything genetic since Cali’s physical features were normal and most genetic diseases show some physical abnormalities. We left the Mayo Clinic feeling defeated and lost for answers. We still knew nothing! Over the years Cali has done physical therapy, occupational therapy, speech therapy, equestrian therapy, aquatic therapy, cranial sacral therapy, acupuncture, yoga, gymnastics, chiropractors, massage - you name it, we have tried it. Cali is now 14 and she still cannot walk on her own, she does not speak clearly and she can only stand unassisted for about a minute. She depends on us for everything. She struggles with ataxia, muscle spacity and extreme cognitive delay. All we want for our daughter is simple; independence, health and happiness. We consider ourselves lucky because we know how much worse it could be. Our hearts go out to families facing degenerative diseases. Our hearts go out to families all over the world that are right now searching frantically for answers. It isn’t fair! It isn’t right! In 2006, we were blessed with our 2nd beautiful daughter, Raelyn. Fortunately, she is healthy and happy. Her development has been completely normal. She excels in school and in sports. She is the most amazing sister with a warm and generous heart of gold. When she throws a penny in a fountain or blows out her birthday candles, her only wish is that her sisters will someday walk and talk. Then in 2009 we were blessed again with our 3rd beautiful daughter, Ryann. When she was 4 months old, we noticed Ryann’s eyes twitching and her head continuously shaking. She was displaying the same seizure like movements as Cali did. When she was about 6 months old, our pediatrician recommended Ryann to see a neurologist. We were admitted immediately to CHOC. We were terrified! After several days of inpatient testing, Ryann’s MRI showed damage to her cerebellum – the same strange pattern of cells as her big sister Cali. We were crushed! I don’t think I ever cried so hard. I can’t explain the feeling - but it’s an awful feeling. How could this be happening AGAIN!? How could this happen to another one of our babies? I literally cried and yelled to God, “What do you want from me?” We don’t need to go in to detail with what happened next. It’s as if we hit the rewind button and experienced exactly what we went through with Cali – now with Ryann. Talk about a nightmare groundhog‘s day. We were literally feeling like, what the heck is going on? As always, Rick and I picked ourselves up and got ourselves together. We had work to do. Another world just opened up. The world of Genetics! Now we had a pretty good idea that this was something genetic because two out of three of our daughters were affected by whatever this was. So we started the process of genetic testing. Cali is the oldest, so unfortunately she has to be the guinea pig. She is a trooper though. Vile after vile of blood, poking and prodding – trying to find a name to their disease – it is an endless exhausting task of searching for a diagnosis. All we were left with was a big fat question mark. We still knew nothing. Our geneticists were now out of ideas and we were struggling to accept that we may never know a diagnosis Rick: This past summer we were invited to the First Annual Rare Disease Gala, a tribute to Rare Disease hosted by, Nicole Boice. Our geneticist that we had worked with in the past, Dr. Virginia Kimonis out of UCI,was there as well. She read about our family’s story in the program and emailed us after that. She was very excited about a new; cutting edge test that was available called Exome sequencing. She told us our family was a perfect candidate for this type of testing. We of course jumped at this opportunity. Finally, we had hope! We were ecstatic to say the least. I can’t explain the feeling of this newfound hope, but it is an incredible feeling. Shortly there after, each of us in our family submitted blood. I am sure you all know better than we do what happened next with the Exome sequencing. What we did know, is there was a pretty good chance we would find an answer since we have two daughters with this rare recessive gene. With great pleasure and gratitude we are happy to announce we found a diagnosis through Exome sequencing. As a result of this test, our girls are now categorized as Rare Diagnosed as opposed to Rare Undiagnosed. Our huge question mark has been replaced with a name. The results of the Exome sequencing show that Cali and Ryann both have Complex 1 Deficiency – a very rare type of Mitochondrial disease. So rare in fact, there are only two other people in the world with this known Rare Disease. The great news is, there is treatment available. We are now in the process of getting both girls on a cocktail of vitamins and CLEAN eating. We are hoping this will help with their development. And who knows, some day there may even be a cure for our two little girls. We now have HOPE that one day Cali and Ryann will have a better quality of life and ultimately independence. The doctors told us it is more common to win the lottery twice than it is to meet someone with the same recessive gene. Cristy and I happen to share the same recessive gene. As a result, each of our children had a 25% chance of inheriting this mutated gene. This would explain why Raelyn wasn’t affected. We are here today to say thank you. Thank you to all of you who work hard every day to make this testing possible for families like ours. We FINALLY have answers thanks to this new technology, your dedication, research and comprehensive knowledge HOPE is more than EVER within our reach. Remember Hope; it’s in our Genes!