I Found My Purpose!

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 :-)

I am scared ...

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

An overdue update on Cali and Ryann and their Rare Mitochondrial Disease

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

Especially Beautiful - What an inspiration !

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.

Our big ball of HOPE keeps on rolling!

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

Do I dare to dream?

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.

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!

HOPE

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.

WE CAN HANDLE !

It has been forever since I have posted and so much has happened. So much love, so much progress, and so much happiness. I wish I could say so many answers for our sweet little angels and I wish I could say we finally have a name for their rare genetic disease but no I can't say that. Rare is rare right ? I guess this just means we have to accept the fact that we may never have a diagnosis. We may never know what it is that causes our little girls to have so many struggles. Cali is turning 14 Oct 27 which means we have now been searching for 14 years for some sort of clue or answer and still nothing. All we know is that Cali and Ryann can't walk like their friends, they cant talk like their friends and they don't learn like their friends. This doesn't mean we have given up because we haven't. We will always have HOPE. We will always have FAITH. We will always have LOVE. We feel so amazingly blessed and grateful for our family and for our three precious girls. Rick and I met someone very close to a group of our friends this past weekend. His son has cystic fibrosis, an autosomal recessive genetic disorder. This disorder could take his son's life one day. Sadly that day could come earlier than anyone would want for their children. His family and friends are fighting for answers. We met him the morning after the CF Halloween Ball. The CF Halloween Ball was an amazing night full of fun, friends and laughter in the midst of sadness and helplessness as we all listened to our beautiful best friend speak up at the podium about her life with CF. Rick and I talked to him that next morning and thanked him for such an amazing event and opportunity to raise awareness. We told him about Cali and Ryann and how we have been fighting for answers. We shared our struggles of issues like health insurance. We also shared stories of faith, love and HOPE. He said something to us that I have always felt myself. He said " God knows what he is doing. He chose us as parents for our son with Cystic Fibrosis because we can handle it !" " He chose you because I can see that you and Cristy can handle it too!" Wow, I thought. This is how we feel as well. We could never complain about our cards we have been dealt. We could never complain about our darling , beautiful and sweet little girls. We have nothing to complain about because we can handle it. There are times in our lives when someone you meet says something that just clicks and touches you forever. This was one of these times. I'm grateful for the reminder in our busy lives that WE CAN HANDLE. We are all good! God chose us and he made the right choice. When in doubt take a second and just look at Cali and Ryann's beaming smile. They truly do smile from within and they bring us that same feeling of joy every day.

Warrior and Princess Cali- updates

Cali had another 10 viles of blood taken yesterday to test for another panel of genetic diseases. This panel is the Ataxia panel...not that anyone knows what that means. Basically we are ruling out another chunk of the endless named diseases out there. Picture a wall of balloons and we are throwing darts to pop each one and maybe, just maybe, we will find the diagnosis in one of those balloons. Our neurologist doesn’t think there are any named cases out there the same as Cali and Ryann. Which brings us back to our doc’s original idea that they may name a gene after our family. The Spooner Family Gene, oh jeez! We do not want that of course because then there will not be any other cases to compare to. We have to rule out every rare disease out there and from what i understand there are roughly 7,000 just in kids so this could take a lifetime if you ask me. Our geneticist doesn’t seem to know which direction to go. We just have to keep throwing darts at those balloons and see what we find i guess. Cali is the guinea pig and if anything comes out positive then Ryann will be tested. Cali is such a trooper. She didn’t even cry and they only used one vein! The nurse was shocked at what a great patient she was. She drank a juice box after and went to school Easy Schmeezy! What a warrior that little girl is!

As far as her foot reconstructions go she is done! Whoo hoo! She is out of the casts, into her braces and walking strong in her walker again. Doc says it will be about a year and a half for healing before she isn’t in any pain. Again, what a trooper! We are up and running with her walker and so is Ryann. It is funny to have Cali so tall in her walker and Ryann so little in hers. What a family we are :-). We are going to have to train Rae on how to walk with Ryann so we can handle the both of them at the same time. We can do it!

Lastly, We finally got what we were fighting for with the school district. We are happy to say that the district is hiring an aide for Cali next year. We know she deserves an aide by her side so she can have the opportunity to move about the campus freely and happily. So we will see how it works out. We are hopeful, happy and her biggest advocate and fan.

What is in store for Cali ??

Rick and I had our first meeting with the head of Adult Transition of Capistrano School District yesterday. He has been with the district and the program for over 30 years along with most everyone else involved. These people that run this program seem to really care. Even though they more than likely get paid crap and the Federal Government pays roughly $600 per year per kid they keep going. They are working hard everyday to help 116 young adults age 18-22 years old transition from school into the community. These young adults range from medically fragile to almost independent-driving a car and living in a group home. These young adults go to a college campus everyday 9am-3pm and work in the community. They have a schedule where they may work on reading in the class in the am, then on to working on life skills such as “how do you act in an interview” or what is inappropriate to say to a stranger or friend. Basically they learn how to be a good citizen in the community. Then after their morning lessons a few kids go with one teacher to maybe Costco food preparation, or maybe Howies Game Shack to do whatever is assigned. Each teacher travels with a handful of student, no matter what their disability, to a job site and they do what they can depending on their abilities. Another part of their day includes physical education such as swimming, etc. Then at 3pm the bus takes each student home to their doorstep.

We found out yesterday what Cali has in store for her at age 18-22 years. It was a huge question mark for us. We talk little about it. What happens next? Will Cali live with us for all of her life? Now we have to think about Ryann too. It’s hard to look at the big picture. There are so many unknowns and how is it even possible? But as most parents plan for college we have to plan too. We are even looking at Rae at 5 years old and asking ourselves what is she good at and in the back of our minds what will help pay for college? So it is only fair and obvious we do this for Cali and Ryann. Things will change and we are positive of that. Its still good to know and feel like we have as much insight and information as possible. So yesterday in our meeting we learned that Cali will have school from ages 18-22 years and she will be in the community and really focusing on the quality of life. Income or taking care of her own kids will not be a concern for her. She will live her life as HAPPY as possible, INVOLVED as possible and ACTIVE as possible and we will LOVE her as much as possible. The future or the big picture in its rough draft is sometimes overwhelming to look at. All we can do is look at what we see in a positive light and keep on smiling….

From NOW to the Big Picture

In high school I read the book Power of Now. Since I was 15 years old I have tried my best to live by the lessons of that book. The lessons are to live in the moment of right NOW and soak it all in; don’t waste my time looking at the past because it is in the past and finally don’t project or worry about the future because it’s not NOW. I consistently remind myself to live in the moment, enjoy the moment and appreciate the moment I’m in. The challenge I’m having now is that I need to look at the big picture. Cali is going to be a teenager this year and she has only one year left of Middle School. Instead of class picnics we are having meetings talking about adult transition and what happens after school ends for her at age 25. In this meeting are Cali's teacher, the other special needs parents and the guest speaker, who is presenting a video from 1970 showing college students who have various handicaps bagging groceries or dusting library books. My wheels start spinning in my head. I can see my moments of NOW expanding to the big whole picture....the future. Wow what a scary and intimidating thought. We are not thinking about colleges or sports or even academics. Instead we are having to think about what happens next for Cali after school? Will Cali live with us forever? Will she live in a group home? What skills does she need to acquire so that she can be out in the community independently and preforming at a job. Will Cali ever drive? Will she have a boyfriend? Even will she have kids? What will Cali be capable of doing when her school ends at 25 years old? I sit there in awe and listen to the speaker tell us all about the work programs available and how we should already be putting Cali on a list because sometimes the group homes have a three year wait. He tells us that we have to start planning, looking ahead and working with Cali to get her as independent and functional as possible. I can’t help but think that she has so much to learn its overwhelming. As of right now she has no concept of money or time. She is extremely dependent on us and I don’t see that changing. We dress her, make her meals, wipe her butt! This big picture is now open wide with questions it is crazy scary. I just don’t see much light at the end of the tunnel if we are expecting she is going be independent and functional on her own. I start to feel like I’m going to have a panic attack. I feel like I am gasping for someone to come and save me from drowning. Someone to hold my hand and tell me all the answers so thinking ahead will be less scary. Nobody comes to our rescue and I don’t faint on the conference table which is always good. Instead I gather my thoughts and tell myself one thing at a time, one day at a time. I will sit down with our team of therapists, doctors, teachers, family and friends and we will work together to map out goals and desires for Cali. I have to accept that Cali ‘s future is different and our family’s future is different. I have to let go and trust that with love, hard work and an open mind everything will be ok no matter what the outcome or abilities. Cali's life isn’t easy to plan but really I can plan all day and night until my face turns blue but the ONLY THING I AM SURE OF IS THE MOMENT IM IN RIGHT NOW. There’s something to be said about the feeling of contentment and happiness and living in the NOW.

Here we go again!

The countdown and preparation begin for Cali's second foot surgery this Tuesday. I am not referring to preparation that includes packing comfortable clothes to stay the night in the hospital or bringing my slippers to walk in the halls. I am referring to mental preparation. It takes a lot to mentally prepare for your child to go into surgery. Hospitals, doctors, anesthesia are all very scary. When you become a parent you really don’t realize how tough it can be. Every age has its challenges. We can read parenting books to give us an idea of what we are about to face. The books cannot prepare you for the feeling when your child is in the hospital. No matter what age your child is as a parent we cringe at the thought of having to go through the emotional pain of watching our child in physical pain. Mostly because there isn’t anything we can do but stand by the bedside and hold their hand and pray for them to get better as quickly as possible. As a parent we have to be our child’s strength. We have to force a smile and wipe away our tears and tell them its ok and they will feel better soon, we promise!

Sweet Cali is so strong and she does so well with all that she has goes through. This is her third surgery. Her first was when she was barely one year old and she had a cerebellum biopsy. The doc made about a 6inch incision in the back of her head and removed a sample of her cerebellum (brain) tissue in hopes they could determine a diagnosis after testing the tissue. This little tiny baby went through brain surgery and when she woke up for the first time she opened her eyes and smiled her huge beautiful smile at us. The doctors and nurses were shocked at her shining happy spirit during such a serious surgery. Our biggest hurdle through it all was that Cali caught pneumonia in the hospital and at 11 months old had a fever of 104. We had to keep in her diaper and put ice rags on her chest to keep her temp down.

Her second surgery was this past October for her first foot reconstruction. Again she woke up from her surgery in the recovery room, opened her big blue eyes and smiled brightly at the nurse. Her smile faded quick as she realized how sick she was feeling and how much pain she was in. Between the morphine drip and Motrin nothing could keep her comfortable. Her foot and leg were in excruciating pain. Rick and I felt helpless and I cried a lot out of desperation for something to stop her pain. She was on an IV for fluids and kept wetting herself and the adult diapers the hospital gave us were not working. So in all her pain we had to move her to change the bed sheets. She would scream in pain as the nurse with my help would try and move her. The worse moment of all was when during one of the sheet changes the new night nurse accidentally spilled her blood pump that was in her leg to drain the blood for the first day from her incisions. As she is crying in pain the blood is spilling everywhere. I could have strangled that nurse!! I almost did ...

So now this Tuesday Cali will go through surgery number three. She will go through her second foot reconstruction surgery. Here we go again. I think back to all we have gone through good and bad from each surgery and mentally prepare myself for the new challenging moments we will face and also what we will do to avoid the past bad experiences. I have my mental list of do's and don’ts. The biggest challenge is the not knowing. Not knowing what crazy things can come up because they always do. All we can do is wipe away our fears and tears and hold her little hand and tell her its going to be ok and she will feel better soon. We will shower her with love and focus our strength and positive thoughts upon her. We will get through this and we will come out of it stronger and wiser.

Who is Cali's best friend?

Cali needs a best friend too. As I sit with the school psychologist he asks me who Cali's best friend is? This questions hits a nerve in me more than any of the other questions on his never ending questionnaire. He runs down the list and every area is the same, she scores in the same range. The reality is Cali is very delayed. We are in the process of getting exact scores now but I would estimate she is at a 3 year old level in most areas and she is 12. Cali is getting tested because we requested an one on one aide for her and the school district came back with the solution of doing her Triennial Review a year early, which is a big deal I must say. So we will see what recommendations her teachers and therapists and school psych have and we are hoping and praying she can get more services. Our goal is for Cali to have a strong team of motivated, loving and skilled people that support her as much as possible. Cali is in middle school now and she deserves for all of us to come together and take a close look at how we are teaching and guiding her. I am a FIRM believer in it takes a village to raise a child and we have three kids so it really requires an entire tribe.

Back to the original unnerving question: who is Cali's best friend?" I immediately think of beautiful sweet Cali. She looks into your eyes and you can see she knows what's up. She is a special girl and she touches people in a way like no other. The challenge here is it takes special attention to stop, slow down and give Cali the one on one connection or to try and really understand her. Its a lot to ask from an adult so a child her age is really pushing it. So this really is a loaded question.

My answer would have to be when it comes down to it we all have to be Cali's best friend. Just like typical best friends you bond and learn different lessons from different people. Since Cali is so delayed it takes much more time and patience to teach her something that would typically be easy to learn. So I am asking my friends, family and anyone that has the privilege to meet sweet Cali to please look into her eyes and be her best friend. Give her something to grow from. Leave a legacy in her life. Cali needs as many best friends as she can possibly have because her path of life requires support and love from others. She cannot make it alone. To all of our friends and family that love Cali as much as we do we say thank you from the bottom of our hearts. She needs us, all of us, all of the time, to be her best friend. Everyone deserves a few :-).

overwhelmed and emotional but still smiling

Wow! Talk about overwhelmed and emotional. I am doing everything I can to hold it together but man is it hard. I cant stop worrying and projecting and feeling like I'm going to explode with tears. I have to tell myself to remember its all about perspective. I have to see the bright side and not the crazy wicked dark side. Thank God I have such amazing friends and family. We have so much love in our life that I can't ever complain. We are blessed with a beautiful family and when we all cuddle up together before bed at night I close my eyes and take a deep breath in and remember that beautiful feeling of love. I carry that through my day and all seems better.

The major cause of worry is Cali goes in 10/19 for her first foot surgery. She walks on the insides of her feet and she has very flat feet. She is in pain everyday and even though she is making progress with her balance and walking, she crawls because her feet hurt her so bad. We have tried every brace possible since she was 1 years old and the pain just keeps getting worse. We have now resorted to surgery.

We check in 5am this Tuesday at CHOC in Orange and the surgery is 3 hours long. We will stay with Cali in the hospital for 1-2 days. She will be in major pain and I am hoping the pain meds wont make her sick. She will wear a cast for approx 8 weeks, then move to a walking cast and then to a brace. Once she is strong enough to bear weight we start all over again on the other foot. Final outcome after about a year of surgery/recovery Cali will hopefully be able to push forward on learning how to walk on her own.

Other concerns or I should say "projects":

-- We have been dealing with the school district to make sure Cali is getting the appropriate education that she deserves which let me tell you is the biggest frustration of them all. I feel so helpless up against the teachers and district who all say Cali is in a great program and she doing great. Like we dont know as her parents??? I KNOW if what they tell me is true or if they are bullshitting us and letting Cali sit in her chair in the corner of the class all day learning nothing. The problem is we have to prove it. The school district doesn't make changes based on motherly instinct unfortunately.

-- We meet with the neurologist again tomorrow so she can tell us she still knows nothing.

-- We are still in the middle of Genetic testing which so far has shown us nothing. They will continue to throw the darts at the balloon wall of known diseases which is never ending. Who knows if we will ever have a diagnosis.

As I type this I remember the great quote : Be kinder than necessary because everyone you meet is fighting some kind of battle. I know this is true. We are all fighting the battle of life. Its those moments that make us feel good and we remind ourselves to look on the bright side of life and soak in feelings of enjoyment and love. We go on fighting with a smile.

IT'S TIME FOR A CHANGE! IT'S TIME FOR ANSWERS!

The hardest part of having a child, or in our case children, with a rare disease is that all we want to do as loving parents is help our little girls and we don't know how or what do to. No one can help us because no one knows any better than we do what is the matter.

Cali and Ryann have the most beautiful knowing eyes. They shine with love and purity. Everyone who meets them falls in love with them. You feel loved when you are with them. They are truly angels sent to our family to bring us a message. A message that life isn't all about ME. Its about raising our sweet daughters to grow up and be the best they can be. Life is about passing along what we have learned to others after us to make our world a better place.

We are all faced with a huge problem. There are children being born everyday with new unknown rare diseases and we don't know what the cause or how to stop it. Its unfair and frustrating that we do not have enough attention and therefore funding for research to find some answers. We are the floaters in the world of diagnosis. ITS TIME FOR A CHANGE!!! Its time to bring awareness and its time to find answers.

Cali and Ryann work so hard to do the simplest things. Cali wants to run and play with her friends. She wants to talk and express herself. She wants to sing the words to her favorite songs. Ryann wants so badly to crawl. She pulls and fights with all of her might to do it. She wants to call out Mamma and Sissy and Night Night and Bye Bye. Our little girls cant do these simple things that come naturally to our sweet Raelyn. We are so lucky that Rae is the best little and big sister of all. When she says her prayers or makes a wish she says "I wish everything to be ok with my sisters". At four years old she already knows and wants the same as all of us that know and love Cali and Ryann. We want everything to be ok too. We want our little girls to do those simple things. We have to find answers and help. We have to keep searching and trying our best to stand up and say IT'S TIME FOR A CHANGE! IT'S TIME FOR ANSWERS!

I have been posting about Pepsi's amazing gift. They are giving away $1,000,000 to the best ideas that can make our world a better place. Children's Rare Disease Network has submitted our fight for a change, our quest for answers. Vote4Hope is in the running for $250,000 for funding for research for children with rare disease. It's a small step for a big reward. I know that I have been voting everyday and I have been reminding everyone to do so too. Its these opportunities that give us the chance to contribute whatever we can to make a difference. Please remember to text 102614 to 73774 for your vote everyday for the month of September.

Update on our sweet beautiful girls

I am well overdue for an update on our sweet little girls and when I say sweet I mean they both get sweeter everyday. I am so in love with our three girls!!

We started our genetic testing finally! We met with the geneticist and she did a full physical exam on Cali and Ryann and said they both look perfect. She did not see any physical signs for a genetic disorder. Poor little Cali gave about 15 viles of blood to submit for known genetic diseases. We will start down one avenue and if all negative we will change directions down another. There are so many genetic diseases and details that I can't explain much. The doctor had to give Rick and I a high school level briefing and please don't ask me to repeat it. Science was never my best subject. :-) Cali will be the one we test and then if we get a positive they will test the rest of us. Now all we can do is wait and in 2 months we will see what the results are and determine our next step.

More news: Cali has been having terrible foot pain. She has worn braces on her feet and legs all her life but her feet are so bad that the braces aren't working for her. She has very flat feet and walks on the insides of her feet so her ankles have become deformed and it kills her sometimes to even put any weight on them. We have determined that surgery is our best bet at this point. The process for surgery is extensive. They only do one leg at a time. So she will wear a full leg cast on one leg for two months and then below the knee cast for another two months. Then we wait two months and then do it all over again on her other foot. I cry every time I even think about it because she goes through so much already. It is heart breaking for me to imagine what she will go through for this surgery. I have to remind myself of the big picture and have faith that this will be life changing for her. Her balance is improving but if she cant stand on her painful feet then she will never walk. Please send your thoughts and prayers for sweet Cali and that she will recover quickly and she will walk painlessly.

One last very important topic is the Children's Rare Disease Network. They are launching a huge campaign for Hope for Sick Kids. Please check out their link. This year Pepsi is giving away millions of dollars to fund good ideas that make the world a better place. They have a good idea that will dramatically help millions of children affected by rare disease, and they can win a grant that will allow them to fund this important effort! Fund Hope For Sick Kids – it’s as easy as a click of a button everyday in the month of Sept. Make A Difference – Vote Today! www.vote4hope.org

That's all for now. Love your kids and be thankful for everyday you share with them. I know I do and I am....

Patience is a virtue because it makes us better people

Patience is a virtue because it makes us better people. The definition of the word is to tolerate delay. This implies self control and forbearance as opposed to wanting what we want when we want it. All we can do is wait and then call to find out how much longer we have to wait. We are waiting for the geneticist, neurologist, insurance approvals, psychologists, etc. I do have to say that Cali and Ryann are healthy, happy and beautiful thank God! I can’t stop myself from looking at their sweet little faces and into their big blue eyes and imagining what if? What if they were typical and not struggling every day to do the little things we all take advantage of. I stop myself because there are so many families waiting for answers and facing the same challenges as us and their kids are getting sicker by the minute and some are even dying. The rare disease world is a scary reality with many unanswered questions by many medical professionals. It has to be the most difficult experience any parent can go through, wanting to help their child get better and no one knows what to do to help. On top of that we are asked to wait for the next appointment with the next doctor and then they give us an answer of "I don’t know, whatever it is it is very rare." Our response, " Really? Rare? We didn’t know that, thanks for nothing!"

As of now our waiting game continues. We received Cali's and Ryann's MRI results and the radiologist and neurologist have suggested a diagnosis of CEREBELLAR HYPOPLASIA (VLDR-associated). I have listed the Google explanation below. The good news is this disease is non progressive, bad news is there is no treatment. Now we are waiting for the genetics team to look at Cali's and Ryann's records and determine how urgent their case is and then they will set our appointment (most likely for two months out). The geneticist will then do genetic testing and see if the girls test positive for this possible diagnosis or any other named diseases.

If they do find a diagnosis it will be an incredible miracle because most rare diseases are undiagnosed. There are more families than you can imagine that are fighting for their child's life and against time to find answers and never do. HOW DO WE NOT KNOW MORE ABOUT OUR GENES? HOW DO WE LEARN MORE ABOUT GENETICS AND RARE DISEASE? These are very important questions that need answers. It is crucial for our kids and someday their kids to become more educated and aware of RARE diseases and how our genetics plays a part. I know I knew nothing about genetics until now and even now I know very little. It’s a world of question marks and sick kids and it’s not a good world to realize that we live in. We can HELP and I am COMMITTED to do so. I will FIGHT to help our children, their future depends on us.

The fight continues and I become a better person in the process. My patience is tested daily but I know this fight is what I am meant to do. Cali and Ryann are our blessing and an amazing gift and I will never give up trying to help them live the best life possible.

CLINICAL CHARACTERISTICS:

General description: Delayed development in motor functions is evident in the first year of life. Unsteadiness may delay unassisted walking for 5 to 20 years. The condition is usually nonprogressive. Speech may also be abnormal, seizures are often present, and many patients have more widespread brain dysfunction with mental retardation. Individuals can be short in stature as well.

Medical description: Abnormal neuroblast migration during development results in nonprogressive cerebral and cerebellar signs including severe ataxia, mental retardation, speech and motor retardation, and often seizures. Short stature is seen in 15% but intention tremors and athetoid posturing are more common. MRI shows inferior cerebellar hypoplasia and simplification of the cortical gyri.
GENETICS: Among eight patients from three related Hutterite famiies, a 199 base pair deletion was found in the VLDLR gene on chromosome 9 (9p24). VLDLR encodes the very low density lipoprotein receptor, and is part of a signaling pathway which directs the migration of neuroblasts in the cerebral cortex and cerebellum. Homozygosity of the deletion in these patients and the relationship of their Hutterite parents suggest autosomal recessive inheritance.
TREATMENT: No treatment is available.
PROGNOSIS: This is a nonlethal condition although severe disability is present.
ANCILLARY TREATMENTS AND SUPPORT: General supportive care. Physical therapy and mobility training may be useful.

The Search Continues

Cali and Ryann have both had their new MRIs done now. The Pediatric Radiologist tells us that they both have the same pattern of severe atrophy to their cerebellum. Yeah we already knew that but thanks. Now our Neurologist is going to talk to the Radiologist and get back to us on our next step. I have learned throughout this process that we have to be the one to take it to the next level. We cannot wait for the doctors because they take forever and then come back and tell us nothing. So our fight for answers continues. I am working with Children’s Rare Disease Network on some amazing projects that can help my family as well as other families with rare disease. The best part about working with them is that I have been introduced to other amazing Moms all across the country that are going through what we are and most of them have it way worse than us. They are all helping us get in touch with the best doctors that they know of. Why re-create the wheel when we can network and share information? I will continue to turn over every stone to see who we can find to help us find answers. The search goes on for someone out there to help Cali and Ryann. If we as parents do not stand up and fight for them no one will. That is too sad to think about. Cali and Ryann deserve the best and they deserve a fair chance at life.

Updates for Cali and Ryann with some venting of course :-)

It is absolutely ridiculous how slow the medical industry moves. I cannot tell you how many phone calls it takes to get anything done. Its crazy to me how many phone calls it takes to get people to do their job. If I wasnt calling the doctors, insurance companies, teachers, therapists, psychologists, etc. etc. etc. then nothing would get done. Its not even one phone call, its consistent calls to make sure our case hasnt been forgotten. I have lists, calendar reminders, notes, dates, times etc and I am still trying to keep track of everyone I need to call to get appointments that Cali and Ryann need. Its a full time job and since I have a husband, 3 kids and a business to take care of its stressful to know that if I am not calling everyday then I am moved to the bottom of the pile. I feel proud of myself for a days work when I can get through the maze of phone menus and actually talk to a live person and they know what they are talking about. It is so fruatrating when I finally find time to call and then I get a menu with options that lead to more options and then I have to listen to the entire message in Spanish and then I finally get to the person I need and it is another machine to leave a message. Ugh! Now its back on the to do list that never gets done because there are really no people there to take your call. Its torture! I want to throw my cell phone out of the window and watch it shatter!! Ugh!

ANYWAYS!! I actually do have some updates from my month of phone calls. I am still working on most everything else but we FINALLY have Cali and Ryann MRI scheduled. Cali's is set for 4/21 10am and Ryann 5/5 7am, both at UCI hospital. They will both have to be under full anesthesia and the entire process will take about 5 hours (including recovery). I am terrified of course. I have been working endlessly to get these appointments set and now that they are I feel like I am going to cry, which I will for sure, all day that day and probably a lot of other days too. So please say special prayers for our little girls that they will have a successful MRI without any hiccups. Thank you :-) xoxoxox

What we have in the works: I meet with the Childrens Rare Disease Network this Thurs morning. It should be very interesting and I am super excited to see what oppurtunities they will uncover.

I am still working to get the UCLA Center approved through my insurance. There are neurologists and orthopedists that I really want Cali and Ryann to see. They are a reasearched based hospital so its important.
Getting our insurance to approve out of network/area is a huge struggle and I am in the appeals process right now. UGH!!!!! HMO Insurance is enough to drive me crazy!

Cali will be seeing a psychologist for a full report and anlysis which is exciting. She is also going to speech therapy two hours per week now instead of one so GO CALI!

Ryann is getting physical therapy in our house once per week for an hour and we love our PT, she works with Cali too. Ryann has a lot of work to do and is very delayed in her gross motor. Good news is she loves therapy and is happy and cooperative the entire hour and works really hard. GO BABY RYANN!!

I think we may have found an adaptive bike that a very nice man MAY be donating to us. I would love for Cali to be able to ride a bike. WOW! That would be amazing! We will soon see if he is donating the bike or hopefully gives us a low price.

I will send more updates as soon as I have any. Thanks for caring about our family. Your support and love mean so much to us. xoxoxo