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.