Saturday, July 6, 2013
We can't say thank you enough to everyone for their love and support. Your love and support is what keeps us going and keeps us strong. We are filled with HOPE and optimism. It's an incredible feeling after 14 years of struggling with feelings of hopelessness. We have made leaps and bounds over the last year. We are so excited and motivated. We now finally have a diagnosis for our girls thanks to Exome sequencing through Ambry Genetics. Rick and I carry a recessive gene and together we have 1 in 4 chance for each of our children to inherit this mutated gene. The mutated gene is the NUBPL gene. Cali and Ryann both carry this gene, it is dominant for them and so they are effected, Raelyn is not. Cali and Ryann are both diagnosed with a mitochondrial disease called Complex 1 Deficiency. It's extremely rare, so rare in fact there are only two other people in the world published with this disease. The mitochondrial is the power house of every cell in our bodies. It requires energy to help the cell work properly. Cali and Ryann are both effected in their cerebellum. Their MRI's show a strange pattern of cells. This would explain their huge delay with walking, talking and comprehension. Unfortunately, there isnt a cure but thankfully there is treatment. We are now feeding them a "mitochondrial cocktail" of vitamins three times per day. We hope that these vitamins will feed their cells and help them to function more properly. Cali recently had a muscle biopsy done and the results show she is actually producing too much complex 1 so this is even more mind boggling for doctors. We just recently attended the Mitochondrial conferences and our geneticist actually had a poster up on our families case. Doctors are intrigued and scratching their heads as to what exactly is going on with our girls. We are still in research mode and will require a lot more testing but we are at least headed in some direction. The advancements in technology are truly amazing and I hope for other families to find answers like we have. Even though our disease is extremely rare at least now we know. Knowing is everything!! We were presented with the amazing opportunity to spread the word about Exome sequencing and tell our story. We said yes of course and we were blown away with the final movie. Micheal Squier with Ambry Genetics is so talented and knocked this out of the park. It is such a blessing to us and we are excited to share with you. All we ask is that you share too. The only way for us to keep moving on this path and help our girls find more answers is to keep looking and networking. We know that someday, somewhere, someone will watch our story and hopefully have more answers for us. HOPE is the key word here. We never imagined last year that we would be here with answers and our story to share in such a beautiful way. I look forward to next year when we can look back to this time and say WOW!, we have come leaps and bounds again!! Let's keep this ball of hope and answers rolling down the path of discovery!! Please watch and share our movie. www.thelifewelivedoc.com
Thursday, March 21, 2013
I wonder if it is better to set high expectations and maybe fail or to stay grounded and be pleasantly surprised? It has been about a month now that Cali and Ryann were diagnosed. So far we know that Rick and I share a recessive gene, together the gene becomes dominant and each of our children has a 25% chance to inherit this mutated gene. Cali and Ryann both inherited this mutated gene are affected by the rare disease. Their diagnosis: a very rare type of mitochondrial disease called Complex 1 Deficiency. Basically, their mitochondrial (the organ inside each cell) is lacking a certain protein to have the energy to function properly. This would explain their extreme developmental delay. What a crazy relief after 14 years to have some answers as to why two of our beautiful girls cant walk, talk or run. It breaks my heart everyday to watch them struggle to do such simple things. Its so hard as a mom to keep focused on the positive and know that they are happy and healthy when all I want it to see them grow up and have the same opportunities as their sister. Raelyn is such a good little athlete and as we watch her swim, play softball and tennis I cant help but think it isn’t fair for Cali and Ryann. I know that God gives us what we can handle and trust me I am VERY thankful that they are healthy and I know it could be worse. Still, of course I want the world for our daughters!! Now after 14 years we know what the culprit is. We understand now what is wrong. Over the years we have been searching for answers and have gone through so many tests and doctors asking the same questions, "What happened to Cali and Ryann?" It's still surreal now a month later to actually have an answer. There isn’t a cure for mitochondrial disease but the good news is doc says, "there is treatment available!" The treatment is a vitamin cocktail that the girls take three times per day. The cocktail includes high doses of vitamins like COQ10, Vitamin B , Levocarnatine etc. etc. These vitamins feed their cells to help give them the energy they need to function properly. As scary as it to hear that your two little girls have a chronic illness it is amazing to now have treatment for them. I can't tell you how many supplements we have tried over the years just to see if they would help. Now we actually know that what we are giving them has proven to be life changing for others who have mitochondrial disease. Now the question is : do I dare to dream and hope that this new treatment miraculously starts to heal Cali and Ryann? Do I dare to dream that they will one day walk alone, run with their friends, play sports, and maybe, just maybe, get married and have a family of their own? My dreaming is endless but is it safe? I just don’t know if it is better to dream these wonderful dreams for our little girls or if I should stay grounded and unexpecting. Is it better to be pleasantly surprised with positive results? I am scared to dream to be honest. I am afraid that I am setting our family up for disappointment. What if this vitamin cocktail doesn't do much at all. What if we don't see any results? What if, what if, what if.... I don’t want to drive myself crazy but I cant help but think of all the possibilities.
Wednesday, February 27, 2013
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!
Monday, February 11, 2013
I am feeling so emotional today that I had to sit and take the time to write. Yesterday at church there was a beautiful young girl that spoke. She was born with Cerebral Palsy and walked with a walker for most of her life. Now she walks independently and plays sports and her goal she is working tirelessly to achieve is to run a 5K. I was blown away with so many emotions while I listened her to her speak her story. How amazing she is, I thought. She is so motivated and she works so hard do the simple things most of us take for granted. Her huge accomplishment as of late was making it around the track one time. She talked about how painful it is to run and how she needs her team of family and friends to cheer her on and keep her moving. It makes me cry just thinking about her struggles and how she is so positive and determined. I can’t help but compare her to our two sweet girls. I can’t help but think about how amazing it would be for Cali and Ryann to be where she in one day. If only Cali and Ryann could one day walk without their walkers and maybe play sports and run with their friends. I am just a mom who wants to do everything I can to get them there. It’s hard sometimes to believe but I have to! I have to fight for them and cheer for them. I have to be their biggest support, their number one fan. We can’t give up! We have to work together as a family and stay on the right track. I pray and hope that with the new findings in their genetics that we may one day find something to help them. I am afraid to get my hopes up but I know it is better to believe than not to believe. I just don’t know what lies ahead and I hesitate to set us all up for failure. You just never know though! If we know what mutated gene they share that has caused their disease then maybe, just maybe, there may be other answers out there. I am so scared though to get excited. I have settled for all these years thinking this is it for them but now it may not be. It feels so exciting to have HOPE again. What a miracle it will be if we can find a special diet or medicine that allows them to balance and use their muscles like we do so naturally and easily. If only there was something that could help them. Please God hear our prayers.