Sunday, March 8, 2015
OK, so I have to admit I have not read "A Purpose Driven Life" but I don’t have to read it to know how important it is to have a purpose driven life. We all look in different directions throughout our lives searching for the answer of the famous question, "What is my purpose?" I now know what mine is and it creates a fire inside of me. A fire burning so strong that I cant stop thinking and planning on what my next move will be. It consumes me. I go to bed at night with thoughts of what is to come. I wake up in the morning with my wheels spinning. Having three daughters, two with special needs, a husband and a business definitely can get distracting. Let’s be real, I can’t always sit around and daydream. I can assure you that any time my mind has time to wander it goes straight to my purpose. A very good friend of mine sent me a message a few days ago and she said: "I was listening to a radio program today on KWAVE. Talking about God and children born with special needs...and the parents. I thought of you when the pastor said "how blessed those parents are who actually gave birth to their mission in life”. WOW was she right on. I didn’t even realize what had happened to me until I read her post. I didn’t realize that my purpose was decided when Cali, Raelyn and Ryann were born our three very special little girls who need me - all of me. Raelyn is perfectly healthy, thank God, but she has to stay strong and sweet to remain our little powerhouse of a sister. She is their guiding light and as of now she stays true to that. Cali and Ryann, well they depend on me. They absolutely 110% need me to keep fighting. If I stop it all stops. If I stop then that's it, they will never get the help that they need or the answers that they well deserve. It is my mission, my purpose, to keep going. Whether it is fundraising, networking, spreading the word or simply sharing our story. I truly believe that our babies will someday find what we are desperately seeking. We need to find more families with NUBPL gene mutation. We need to find more families because as Mark Shields said so well, "There is always strength in numbers. The more individuals or organizations that you can rally to your cause, the better." Our first annual event, "Especially Beautiful" was just that, BEAUTIFUL. It could not have gone better! Our documentary: www.thelifewelivedoc.com is the most amazing documentary I have ever seen. Michael Squier, the producer is our hero. We are so blessed to have opportunities like these to tell the world. That is exactly what I want to do, tell the world. I would scream to every person possible and say, "Hey, look over here! Look at what is going on over here!! We have two beautiful little girls that deserve to have a full life. They deserve to read, to write, to ride a bike, to run and play with their friends (without mom or dad following them to make sure they don’t fall). They deserve that. I need your help! Please help us!! " That's what I would scream and I'm doing everything I know to do just that. It may not be my voice screaming but my soul is. My heart is full of passion and determination. This is my purpose, my purpose driven life. Now maybe I should read the book :-)
Wednesday, October 22, 2014
There are certain times throughout our family's struggle with a rare disease that I am actually scared. Now is one of those times. I try so hard every day to stay positive and strong. I sometimes feel like I am about to break but I know it won’t do any good. Life is about perspective and I truly believe in that. I have to practice patience. I have to show joy and hope. If there isn't any hope than what do we have left? My family and friends watch me and show their admiration, support and love. I don't want to let anyone down. I don't want to let myself down! I don't want to let Cali and Ryann down. My family depends on me to be there for them. If I show fear it will scare them! "It's all ok", I say. We are blessed because it can always be worse. We are a strong family and we will make it through anything!! This is me and who I am. It's important to me and there isn't any other way to be. Today I write through tears streaming down my cheeks. I am not smiling. I am crying and scared. Our doctor says that Cali and Ryann's most recent MRI's are showing that their cerebellums are getting worse. This is very scary because mitochondrial disease is typically progressive. Their cells are lacking an important protein and our cells continue to multiply. The bad cells reproduce. Cali and Ryann both have a mitochondrial disease that is very rare. We don't know what is coming next or the progression of their disease because there aren't enough cases to compare them to. We are hoping that since Ryann has been doing so well that their disease could be different. Since it's so rare maybe it isn't progressive. I am sure you can see why I am crying and why I am scared. We are getting second opinions and looking for a new neurologist and this is what keeps us from freaking out!! We have to continue to hope!! We will keep everyone updated. XOXOXOX
Thursday, September 18, 2014
I am FINALLY getting around to update everyone on our beautiful Cali and Ryann and their Rare Mitochondrial disease. I am sorry it has taken me so long but life with three kids, work and fun (of course) is a whirlwind and time flies by! My last update was 6 months ago when we held our First Annual Fundraiser, "Especially Beautiful Fashion Show". It was a huge success! We raised about $8,000 and I thought that was pretty good for our first event. With the money that our friends and family donated to UCI hospital we have began more research on the gene mutation (NUBPL) and the girls' disease. Now, 6 months later, we are starting the planning for our Second Annual Fundraiser, "A Special Day of Golf"! Yes, you guessed it - it is a golf tournament. I got to have my fashion show and now Rick gets to have his golf tournament. :-) All donations will go to UCI to continue our research to help our sweet girls and others with this disease. I will copy exactly what UCI has sent me to show you in their terms what the money we raise goes towards. Here it goes: Thank you for your interest and support of NUBPL Research at UC Irvine! Donations received from the golf tournament will benefit research being conducted by Dr. Virginia Kimonis on NUBPL Disease. Previous funds have allowed for initiation of preliminary studies including: * Expression Studies of the NUBPL gene in the brain, skin and muscle samples and blood cells (lymphoblasts) from the Spooner girls which will indicate the degree of deficiency in the NUBPL gene. Material has been made available to researchers interested in NUBPL—some in Europe have already been identified! These cells will be used to increase NUBPL by different methods, which may be used to help patients. * Development of Induced Pluripotent Stem cells (IPS) lines from skin samples, which will be converted into brain cells (neurons). These are very valuable to study the cause of challenges faced by Ryann and Calyn and also to help to develop effective treatments. Our goal is to raise enough funds to allow for the creation of a mouse model, a well-studied model that will allow researchers to see the impact of the mutations of the NUBPL gene on the brain and the effects of different treatments. New treatments are needed to improve walking, balance and cognitive skills for children like Ryann and Calyn. AS FAR AS WHAT WE HAVE BEEN UP TO: Ryann recently had a skin biopsy and Cali had already had tissue samples saved from a previous muscle biopsy. We were very lucky because our doctor was even able to locate the tissue sample from Cali's cerebellum biopsy she had done when she was only 1 year old! What a relief to know that an intrusive brain surgery didn't go to waste!! Cali and Ryann have also started seeing specialists to get baseline tests done on all of their organs. Mitochondrial disease is typically progressive and attacks the organs so our doc wants to make sure they monitor the girls very closely. They both saw a cardiologist and their hearts look great. They saw an ophthalmologist and their eyes look great and they are now seeing a new metabolic specialist and neurologist. We are getting used to doc appointments, that’s for sure! Today we met with a nutritionist at CHOC and our doc suggested we put the girls on a high protein diet. She thinks it may help with their disease. So, I kept a three day food diary (which wasn't easy) and now we can see how much more protein the girls need every day to qualify as "high protein". That's my update for now. Stay tuned for more to come! We will be here planning "A Special Day of Golf" and I am super excited to share our Second Annual event with all of you. XOXOXOXOXOXO
Tuesday, February 11, 2014
The world of Rare Disease is never a world we wish to be in. When we found out that Cali and Ryann both inherited a recessive gene that Rick and I both carry our world became just that - RARE. When our beautiful girls were finally diagnosed last year after 14 years of searching for answers we weren't sure if we should be happy or scared. It's one of those situations where you are laughing and crying at the same time. We feel the same way today, one year later. It's not easy having two special needs kids with a Rare disease. As parents we feel like we are never doing enough. We struggle everyday to keep calm and patient and not get frustrated. We know that Cali and Ryann can't help themselves not to cry every morning because they are annoyed that we have to dress them, brush their teeth and help them with every step of their routine. They can't help but cry because they want to go with their friends and play on their own. We know that all they want is to be independent like their middle sister, Raelyn. We also know that Raelyn is watching us and how we deal with those frustrating situations. Yet, we do lose our cool at times. We do have to count to 10 backwards and remind ourselves that this is our life and we have to keep the happiness, peace and tranquility. It's not easy but we can do it. Then, those proud moments happen that make it all worth it. An opportunity comes into our lives and we grab it, run with it and it makes every hard moment worth it ! Right now we are in the middle of one of those amazing moments and we couldn't feel more proud and excited! Our geneticist with UCI approached us with an opportunity for research. We went to UCI and toured their lab and met the scientists who are working hard everyday to find answers for Rare disease. We got to see the stem cell research lab among all of the the other labs and talk to the scientists about what work is being done that most of us don't ever think about. You see, we have two little girls that need this research so badly in order to have the life that all of us wish for them to have. They need treatment. They need answers. These answers aren't going to come if we sit at home and do nothing. They will only come if we look for them and keep searching. So we decided to work with UCI and see what we can find out. The downside is that research is not covered by insurance and there isn't extra money laying around for them to use. We have to fund it. Trust me, we don't have this kind of money either so we have to ask for help. We have to enter another new world of fundraising. This does not in any way sound fun to us. We have never asked anyone for anything. We are very independent people but we cant get this money on our own. So here we go!!! We played around with what the heck we could do for this fundraising. UCI suggested for us to have a party at our house and ask our friends and family for money. This sounded like a terrible idea to us. "No way!", we said. So we waited and thought about it. One of our closest friends told us about an inspiring documentary called, Miss You Can Do It. She said this woman who has cerebral palsy won Miss Idaho and was so inspired she started a special needs beauty pageant and now years later families travel from all over the country to take part in this event. I was absolutely inspired and thought, "That's It!!" We can have a fun fundraiser where we can make these special needs kids feel beautiful because they truly are. We can call it "Especially Beautiful"!! The idea stayed in my mind and heart and then another opportunity put the icing on the cake. Another one of our closest friends told me that he was working to promote a new fashion like called , Rove. "WOW!", I said, "This is perfect." I excitedly explained the idea of our special needs fashion show and he was all in. This is was the beginning of "Especially Beautiful- A Rare Fashion Event". We have so many incredible families in our lives that have especially beautiful kids so it was hard to only have a handful participate this year but I didn't want to bite off more than I could chew. With the help of the most amazing team in PR, Fashion, friends and families this dream is now a reality. On March 2 we will have 10 gorgeous girls strutting their stuff and showing the world how beautiful the are! They are all modeling Rove clothing, we will have their hair and makeup done and of course they will all be wearing their huge smiles :-). We already had our photo shoot last week and that was the most rewarding day of my life. To see these girls get styled and dressed up and the look they had when they looked in the mirror - AMAZING! I have found my calling. I cant explain how wonderful it is to see how proud they are of themselves, how beautiful they looked and how happy they were. I was jumping up and down in the studio every time another Especially Beautiful model let herself feel beautiful in front of the camera. We cant wait to see them model in person in front of all of us proud parents, friends and families. I have been dreaming every night about the event and I know it will be life changing for so many. So here we are with this incredible opportunity to not only fundraise to help Rare disease but also to inspire. We all need inspiration to be the best that we can be. The teary eyed look in everyone's eyes of pride and joy is the best feeling. This experience makes those hard and frustrating moments worth it. I now know why I am here. I now feel like I have learned what my life is about. It is about taking risks and thinking about others while we fight for ourselves. It is about community, love and sharing. We don't know what answers we may find but that doesn't mean we should give up. It means fight harder and look deeper. We are happy we have this exciting event with these amazing kids and families here with us too. Making them smile and feel Especially Beautiful is an incredible feeling that we want to continue forever.
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!