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.
Tuesday, October 12, 2010
Monday, September 13, 2010
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.
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.
Tuesday, August 31, 2010
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....
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....
Thursday, June 3, 2010
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.
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.
Friday, May 7, 2010
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.
Tuesday, April 13, 2010
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
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
Thursday, March 18, 2010
Why can't I go??
The most important part of life are friendships. I truly believe this and live by this. I am with my friends as much as possible. Heck, I am on facebook looking at what my friends are doing on a daily basis. Friends support us and love us and we have so much fun with our friends!!
When I think about Cali and now baby Ryann it's hard to feel sad because they are so full of life and love. Now I watch Rae Rae at only 4 years old she is already having sleepovers and going to neighbor's houses to play, sadly Cali stays behind. It breaks my heart to watch her cry and beg to go. I don't even know how to explain to her why she can't go along. We try and make her feel better. "You will get to play with mommy and Daddy", we say. "You can help us with your baby sister", we say. How do you explain to an 11 year old girl that only her sister can go and play and she can't? I wish so much that she could experience these fun times of being away from home at a friend's house. She should be staying up late giggling and then coming home in the morning grumpy and tired from lack of sleep and too much fun. These are some of the small things you take for granted until you are faced with not having them. I feel so sad for her and now to think that Ryann will deal with the same challenges. I'm crying for sweet Cali and Ryann as I write this post. I know I have so much to be thankful for and I know I have to stay positive and see the bright side but it hurts. It hurts to watch your little girls miss out on anything that life has to offer.
I found this quote and love it: Regardless of whatever natural gifts we may have or lack, regardless of what obstacles and challenges we may confront, our souls are sacred and worthy of boundless love. (from the website for Friendship Circle, an organization that pairs teen volunteers with special needs kids)
When I think about Cali and now baby Ryann it's hard to feel sad because they are so full of life and love. Now I watch Rae Rae at only 4 years old she is already having sleepovers and going to neighbor's houses to play, sadly Cali stays behind. It breaks my heart to watch her cry and beg to go. I don't even know how to explain to her why she can't go along. We try and make her feel better. "You will get to play with mommy and Daddy", we say. "You can help us with your baby sister", we say. How do you explain to an 11 year old girl that only her sister can go and play and she can't? I wish so much that she could experience these fun times of being away from home at a friend's house. She should be staying up late giggling and then coming home in the morning grumpy and tired from lack of sleep and too much fun. These are some of the small things you take for granted until you are faced with not having them. I feel so sad for her and now to think that Ryann will deal with the same challenges. I'm crying for sweet Cali and Ryann as I write this post. I know I have so much to be thankful for and I know I have to stay positive and see the bright side but it hurts. It hurts to watch your little girls miss out on anything that life has to offer.
I found this quote and love it: Regardless of whatever natural gifts we may have or lack, regardless of what obstacles and challenges we may confront, our souls are sacred and worthy of boundless love. (from the website for Friendship Circle, an organization that pairs teen volunteers with special needs kids)
Tuesday, March 9, 2010
THANK YOU
I would like to start off by saying something very important. THANK YOU to all of our wonderfully amazing family and friends. I have never felt so much love and support and it means the world to me. I can face what I have in front of me calmly and rationally because we have such a strong support system under us. Our family and friends hold us up and keep us going strong. We say prayers with the girls before bed and we say "Thank you God for all of our family and friends. Bless them all like they have blessed us". I feel so lucky and grateful that I can say that. So, THANK YOU SO MUCH!!!
I have been through a lot lately. I am going through many trials that test my ability to stay strong, positive and open minded. I always say that we dont have a choice other than to be happy. I also say, "float above it" - rise above the chaos and overload and look at myself a little less seriously. This is my path and I can walk with my head held high or go kicking and screaming but I still have to go. I know that it will be ok. I know that no matter what life throws at me I can find the silver lining. MAN! that is next to impossible sometimes and MAN! do I get grumpy and stressed sometimes (Rick will attest to that one). But if I can take the time out and look at all that I have. Look at all the blessings in my life. Remind myself to be appreciative and respectful for what I DO have. My mom always used to say "Stop feeling sorry for yourself". At the time when I was young and she told me this I was pissed! I wanted her to feel sorry for me and coddle me. Now, I agree with her. I say, "Get up, paint a smile on your face and just handle it!" There really isnt any other way. I still need a hug sometimes though :-) xoxoxo
I have been through a lot lately. I am going through many trials that test my ability to stay strong, positive and open minded. I always say that we dont have a choice other than to be happy. I also say, "float above it" - rise above the chaos and overload and look at myself a little less seriously. This is my path and I can walk with my head held high or go kicking and screaming but I still have to go. I know that it will be ok. I know that no matter what life throws at me I can find the silver lining. MAN! that is next to impossible sometimes and MAN! do I get grumpy and stressed sometimes (Rick will attest to that one). But if I can take the time out and look at all that I have. Look at all the blessings in my life. Remind myself to be appreciative and respectful for what I DO have. My mom always used to say "Stop feeling sorry for yourself". At the time when I was young and she told me this I was pissed! I wanted her to feel sorry for me and coddle me. Now, I agree with her. I say, "Get up, paint a smile on your face and just handle it!" There really isnt any other way. I still need a hug sometimes though :-) xoxoxo
Thursday, March 4, 2010
Two special daughters with special needs
After our two hour neurologist appointment this morning its pretty safe to say that Cali and Ryann both have the same "thing". Whatever that "thing" is. Their "thing" is not specifically diagnosed but put into the category of Spinocerebellar ataxia. I went ahead and googled it for you and pasted what I found at the end of this post.
What is the next step??? At this point we are going to get Cali and Ryann a new MRI. After we receive the MRI the images will be sent to specialists (radiologists, geneticist, neurologists) that specialize in Spinocerebellar ataxia. Cali will also get an IQ test outside of school so that we can determine where she is delayed mentally. This will hopefully help her teachers with their teaching methods. (I say hopefully because with special education it all depends on the teacher and how motivated they are. We are also referred to an herbalist for acupuncture (worth a shot). Our doc says she sees great potential in Cali and she is a bright and happy young lady. We obviously agree and may I add she is beautiful and can be a pain in our butts as most tweens are. :-)
As you can see in the health article below their is not a cure only treatments to soften the symptoms. Wow, two special daughters with special needs! We are going to stay active and busy!! Oh, and as Rae always reminds us "I'm special too Mommy ". So really we are blessed with three special daughters :-). xoxoxo
From Wikipeida/Bing health article:
Symptoms
Spinocerebellar ataxia (SCA) is one of a group of genetic disorders characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements. Frequently, atrophy of the cerebellum occurs. [1]
As with other forms of ataxia, SCA results in unsteady and clumsy motion of the body due to a failure of the fine coordination of muscle movements, along with other symptoms. Generally, a person with ataxia retains full mental capacity but may progressively lose physical control.
Treatment:
Treatments are generally limited to softening symptoms, not the disease itself. The condition can be irreversible. A person with this disease will usually end up needing to use a wheelchair, and may need assistance to perform daily tasks. (that's for sure!)
The treatment of incoordination or ataxia, then mostly involves the use of adaptive devices to allow the ataxia individual to maintain as much independence as possible. Such devices may include a cane, crutches, walker, or wheelchair for those with impaired gait; devices to assist with writing, feeding, and self care if hand and arm coordination are impaired; and communication devices for those with impaired speech.
What is the next step??? At this point we are going to get Cali and Ryann a new MRI. After we receive the MRI the images will be sent to specialists (radiologists, geneticist, neurologists) that specialize in Spinocerebellar ataxia. Cali will also get an IQ test outside of school so that we can determine where she is delayed mentally. This will hopefully help her teachers with their teaching methods. (I say hopefully because with special education it all depends on the teacher and how motivated they are. We are also referred to an herbalist for acupuncture (worth a shot). Our doc says she sees great potential in Cali and she is a bright and happy young lady. We obviously agree and may I add she is beautiful and can be a pain in our butts as most tweens are. :-)
As you can see in the health article below their is not a cure only treatments to soften the symptoms. Wow, two special daughters with special needs! We are going to stay active and busy!! Oh, and as Rae always reminds us "I'm special too Mommy ". So really we are blessed with three special daughters :-). xoxoxo
From Wikipeida/Bing health article:
Symptoms
Spinocerebellar ataxia (SCA) is one of a group of genetic disorders characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements. Frequently, atrophy of the cerebellum occurs. [1]
As with other forms of ataxia, SCA results in unsteady and clumsy motion of the body due to a failure of the fine coordination of muscle movements, along with other symptoms. Generally, a person with ataxia retains full mental capacity but may progressively lose physical control.
Treatment:
Treatments are generally limited to softening symptoms, not the disease itself. The condition can be irreversible. A person with this disease will usually end up needing to use a wheelchair, and may need assistance to perform daily tasks. (that's for sure!)
The treatment of incoordination or ataxia, then mostly involves the use of adaptive devices to allow the ataxia individual to maintain as much independence as possible. Such devices may include a cane, crutches, walker, or wheelchair for those with impaired gait; devices to assist with writing, feeding, and self care if hand and arm coordination are impaired; and communication devices for those with impaired speech.
Wednesday, March 3, 2010
No news is good news is not always true
Waiting, waiting, waiting. I keep looking at my list of people that I have contacted with Cali and Ryann's MRI images and information to see if anyone can help us or refer us to someone who may be able to help us. I email, I call and then we wait to hear back. I have to balance continuing to check in with them to see if anyone has anything to tell me and stalking them by emailing and calling every day. I understand everyone has their own life, their own problems, their own day to day that makes time fly by. I dont want to seem like what I am dealing with is any more important than what anyone else is dealing with. I'm just saying the waiting is killing me. They say no news is good news but not in this case. We would LOVE to hear some news. Patience is a virtue right?
Tomorrow is our appointment with our new neurologist. She will do a full comprehensive exam and then write a report. She will then order new MRI for Cali and Ryann with the top imaging equipment out of UCI. We will have new information to share with any contacts which we hope will help. We just need someone out there to have seen something like Cali and Ryann and then see if there is any treatment for them. We may not find an answer or diagnosis but its important to never give up trying. Its important for possible treatment for Cali and Ryann and for our family genetics.
Tomorrow is our appointment with our new neurologist. She will do a full comprehensive exam and then write a report. She will then order new MRI for Cali and Ryann with the top imaging equipment out of UCI. We will have new information to share with any contacts which we hope will help. We just need someone out there to have seen something like Cali and Ryann and then see if there is any treatment for them. We may not find an answer or diagnosis but its important to never give up trying. Its important for possible treatment for Cali and Ryann and for our family genetics.
Saturday, February 27, 2010
One Day at a Time
One day at a time, I have to keep telling myself that over and over. It's so surreal to think we are facing what we go through with Cali all over again with our new little baby Ryann. Its almost worse now that I know her fate. Cali has struggled so much, she struggles so much still now every day. As her parents, her family and friends we love Cali just the same if not more because of what she goes through. You can see the thoughts in her head through her beautiful knowing eyes. Cali draws people in with her beauty and her adoring disposition. I look at her and I cant help to think what she would be like if her brain were normal. She is 11 years old, in sixth grade with lots of friends and all that would be the same yet everything would be SO different. Its' scary to look ahead at what we will face. I have to tell myself that she is happy and that's what is important. Its ok that what she struggles with is so easy for most kids her age. Its the simplest things that you take advantage of and that come naturally that she has to work on so hard and still cannot achieve. Yet, every kid is different and who am I to ever feel sad about Cali. She is a blessing and God gave her to us. We were chosen to love her unconditionally, raise her and teach her to live her life independently. Thats the goal--- independence and happiness.
And now sweet angel baby Ryann, she has that same sweet look in her eyes. You can see that she knows what she is supposed to be doing or what she wants to say but her muscles just wont do it. She wants to clap her little baby hands or make babble noises at us but she cant. She tries so hard its enough to break our hearts into a million pieces. But it cant break. It has to stay together, we have to stay together for them. Its our job as their Mom and Dad to keep loving them unconditionally and raising them to be the best that they can be. We are just like any other Mom or Dad (good Moms and dads, like all parents should be). We are fighting the same battle. It's FOR SURE a battle. We fight for our kids all day everyday, even when they dont know it. We cant ever give up even when we feel defeated. We have to keep going one day at a time, making each day better then last.
And now sweet angel baby Ryann, she has that same sweet look in her eyes. You can see that she knows what she is supposed to be doing or what she wants to say but her muscles just wont do it. She wants to clap her little baby hands or make babble noises at us but she cant. She tries so hard its enough to break our hearts into a million pieces. But it cant break. It has to stay together, we have to stay together for them. Its our job as their Mom and Dad to keep loving them unconditionally and raising them to be the best that they can be. We are just like any other Mom or Dad (good Moms and dads, like all parents should be). We are fighting the same battle. It's FOR SURE a battle. We fight for our kids all day everyday, even when they dont know it. We cant ever give up even when we feel defeated. We have to keep going one day at a time, making each day better then last.
Wednesday, February 24, 2010
UCLA clinic visit didnt work out today
You would think by now I would know the protocol and routine for doctors. I decided to get my entire family up at 5am and drive an hour up to LA, in traffic of course, to find out that we were supposed to have an appointment! "Sorry Rick and kids but we came up here at the crack of dawn for nothing." oops....
UCLA Orthopedic Hospital/Cerebral Palsy Clinic says on their website that they have open evaluations for all ages 8:30am-12pm. That to me means "come on in"! I thought we would be the first to arrive at 8:30am to avoid the line of people lining up for their free evaluations. I thought Cali and Ryann would be meet these great UCLA doctors and they would sit down with us and tell us all the right people to talk to and all the right places to go. Our open clinic that we were totally looking forward to didnt work out. We were sent home with instructions and phone numbers for how to get into the UCLA "system". How in the world did i think it was such a great open casting call? Of course there is a "system" and I have a million and one hoops to go through with our health insurance first before we can even get into the UCLA "system". AND they only take appointments during this open casting call of Wednesdays 8:30-12.
Now for the positive side that we will look at and focus on: There happened to be a great physical therapist in the office when I went in at 8:20am this morning. Rick and the kids waited in the car and I walked around this old building and found her. She wrote down some phone numbers for me and gave me a couple new contacts. May I also mention that we went in to the worng building, their old location. So I am hoping that even though we drove to LA at 6am, with three very tired kids, for really no reason, that maybe she was the reason. Maybe, just maybe, her contacts will open doors for us. We have to look on the bright side right?!?!
xoxoxoxo
UCLA Orthopedic Hospital/Cerebral Palsy Clinic says on their website that they have open evaluations for all ages 8:30am-12pm. That to me means "come on in"! I thought we would be the first to arrive at 8:30am to avoid the line of people lining up for their free evaluations. I thought Cali and Ryann would be meet these great UCLA doctors and they would sit down with us and tell us all the right people to talk to and all the right places to go. Our open clinic that we were totally looking forward to didnt work out. We were sent home with instructions and phone numbers for how to get into the UCLA "system". How in the world did i think it was such a great open casting call? Of course there is a "system" and I have a million and one hoops to go through with our health insurance first before we can even get into the UCLA "system". AND they only take appointments during this open casting call of Wednesdays 8:30-12.
Now for the positive side that we will look at and focus on: There happened to be a great physical therapist in the office when I went in at 8:20am this morning. Rick and the kids waited in the car and I walked around this old building and found her. She wrote down some phone numbers for me and gave me a couple new contacts. May I also mention that we went in to the worng building, their old location. So I am hoping that even though we drove to LA at 6am, with three very tired kids, for really no reason, that maybe she was the reason. Maybe, just maybe, her contacts will open doors for us. We have to look on the bright side right?!?!
xoxoxoxo
Tuesday, February 23, 2010
Our letter asking for help
To Whom It May Concern: 2-23-10
My name is Cristy Spooner and I need your help. I would first like to say THANK YOU in advance for reading our story and trying to help our family.
We have three daughters, Cali (11yrs) Rae (4yrs) and Ryann (10 months). Cali and Ryann both have damage to their cerebellum which we have learned is an extremely rare neurological disorder. Our doctors told us that they had never seen anything like Cali before. Fast forward 11 years later, we now have a 10 month old little girl, Ryann, who is unfortunately showing damage to her cerebellum as well. Our doctors now are telling us we could be the first family to name a disease. We are lost and need help finding answers to help our little girls.
Here is a brief history of our story:
Cali was four months when she began having seizure like body tremors. She was hospitalized for a few days at UCI during which video EEG was obtained and the movements were determined not epileptic. An MRI scan of the brain revealed non-specific cerebellar abnormalities. A full workup of tests were unrevealing. When she was 13 months old she was seen at CHOC of Orange for a cerebellar biopsy. The biopsy showed increased blood vessels and thicker tissue which was not specific and no specific diagnosis was given. Two years later Cali was evaluated at the Mayo Clinic in Rochester Minnesota where another EEG and MRI study was obtained and still no specific diagnosis was given.
After years of trying to find an answer for Cali we decided to continue therapies, which include PT, OT, Speech, Horseback Riding therapy, Aquatic therapy, cranial sacral therapy and anything else we could try to help her. She is a bright and happy young girl. However, her developmental delay grows larger the older she gets. She cannot walk on her own or speakclearly. She in special education in the 6th grade. She has many problems with her gross motor skills. The older she gets the more frustrated she becomes.
We recently took Ryann in for her 9 month check up and our pediatrician recommended we see a neurologist because she was showing signs of seizure like movements (similar to Cali's). She is also delayed in her gross motor and fine motor skills. She cannot sit on her own or crawl. She was hospitalized for a few days at CHOC Mission during which video EEG was obtained and the movements were determined not epileptic. An MRI scan of the brain revealed nonspecific cerebellar abnormalities. A full workup of tests were unrevealing. Again no specific diagnosis.
My husband Rick and I feel helpless at this point. We are determined and motivated to find some answers to help our little angels, Cali and Ryann. We are struggling everyday to help Cali live her life to the fullest. It breaks our hearts that she cannot run and play or communicate with her peers. Now to think of the life ahead of Ryann is heartbreaking. We believe in our hearts, that there is someone somewhere that might be able to give us some answers. We are hoping and praying that someone has seen something similar to our two daughters' cases. We would be so grateful for
any help you can offer us.
I have included the MRI images for Cali and Ryann. Please let me know if you would like me to send any medical records. I look forward to hearing from you. Thank you so so much!! We cant say thanks enough!
Sincerely,
Rick and Cristy Spooner
Rancho Santa Margarita, CA 92688
cristyns@loan-closers.com
cell: 949-456-5029
My name is Cristy Spooner and I need your help. I would first like to say THANK YOU in advance for reading our story and trying to help our family.
We have three daughters, Cali (11yrs) Rae (4yrs) and Ryann (10 months). Cali and Ryann both have damage to their cerebellum which we have learned is an extremely rare neurological disorder. Our doctors told us that they had never seen anything like Cali before. Fast forward 11 years later, we now have a 10 month old little girl, Ryann, who is unfortunately showing damage to her cerebellum as well. Our doctors now are telling us we could be the first family to name a disease. We are lost and need help finding answers to help our little girls.
Here is a brief history of our story:
Cali was four months when she began having seizure like body tremors. She was hospitalized for a few days at UCI during which video EEG was obtained and the movements were determined not epileptic. An MRI scan of the brain revealed non-specific cerebellar abnormalities. A full workup of tests were unrevealing. When she was 13 months old she was seen at CHOC of Orange for a cerebellar biopsy. The biopsy showed increased blood vessels and thicker tissue which was not specific and no specific diagnosis was given. Two years later Cali was evaluated at the Mayo Clinic in Rochester Minnesota where another EEG and MRI study was obtained and still no specific diagnosis was given.
After years of trying to find an answer for Cali we decided to continue therapies, which include PT, OT, Speech, Horseback Riding therapy, Aquatic therapy, cranial sacral therapy and anything else we could try to help her. She is a bright and happy young girl. However, her developmental delay grows larger the older she gets. She cannot walk on her own or speakclearly. She in special education in the 6th grade. She has many problems with her gross motor skills. The older she gets the more frustrated she becomes.
We recently took Ryann in for her 9 month check up and our pediatrician recommended we see a neurologist because she was showing signs of seizure like movements (similar to Cali's). She is also delayed in her gross motor and fine motor skills. She cannot sit on her own or crawl. She was hospitalized for a few days at CHOC Mission during which video EEG was obtained and the movements were determined not epileptic. An MRI scan of the brain revealed nonspecific cerebellar abnormalities. A full workup of tests were unrevealing. Again no specific diagnosis.
My husband Rick and I feel helpless at this point. We are determined and motivated to find some answers to help our little angels, Cali and Ryann. We are struggling everyday to help Cali live her life to the fullest. It breaks our hearts that she cannot run and play or communicate with her peers. Now to think of the life ahead of Ryann is heartbreaking. We believe in our hearts, that there is someone somewhere that might be able to give us some answers. We are hoping and praying that someone has seen something similar to our two daughters' cases. We would be so grateful for
any help you can offer us.
I have included the MRI images for Cali and Ryann. Please let me know if you would like me to send any medical records. I look forward to hearing from you. Thank you so so much!! We cant say thanks enough!
Sincerely,
Rick and Cristy Spooner
Rancho Santa Margarita, CA 92688
cristyns@loan-closers.com
cell: 949-456-5029
Spooner Family Gene - no thanks!
"I am foreseeing us going to a research lab and naming a new gene after your family." these are the words that came out of our neurologist, Dr.Peng's mouth today. "We will most likely find Cali and Ryann's common gene and name it a new disease name." We say no thanks! This is obviously not the news we want to hear because it means they do not have answers. We are among the "unknown" the "undiagnosed" the "big fat ????? "!
First I want to start by saying thank you so much to all of our amazing and wonderful family and friends. We cannot express in words how grateful and thankful we are for all of your love and support. We are going through what every parent dreads. We love our little angels with all of our hearts and we want them to live a happy and fulfilling life. Their life may not be "normal" or "typical" but just happy. We are determined to find some sort of answers so that we can help them in any way possible. I am writing this blog to keep all our family and friends updated. This is not a fast process and we may never find the big ANSWER to our big fat ????? but we still want to keep you in the loop in our journey.
Updates so far:
After leaving CHOC our neurologist has sent Cali's and Ryann's MRI images to a top pediatric radiologist out of UCSF, Dr. Baklovich. We are waiting for his response to see if he has seen anything like this and what his recommendations for a genetics Dr would be. We cannot see ANY genetics doctor, we need to see someone who has dealt with rare disorders. We are hoping that Dr. Baklovich can point us in the right direction for a specialized TOP genetics doctor.
Our neurologist, Dr Peng and her colleagues have looked at Cali's medical records and now Ryann's MRI and they are thinking it is a rare degenerative genetic metabolic disorder. What the heck is that you ask? Yeah, me too. Google it and you will find plenty of information. Basically (and in human terms because we don't understand half of the science talk our neurologist says to us) metabolic has to do with the way the energy moves through the body. Cali and Ryann both have aggravated neurons isolated to the cerebellar region of the brain. This area of the brain controls muscles, balance and coordination. The pattern of damaged neurons on the MRI image is what is rare and the radiologists have never seen this pattern before. This is all dealing with the cellular level of the brain. These types of disorders are genetic and they are still uncovering and learning more and more information about these disorders. There is a lot we don't know about the brain and this is why there are SO many children that remain without a diagnosis.
We have also been talking with some other contacts and referrals from family and friends:
*Mark --- he works with the Childrens Neurological Foundation . He is sending our information and MRI images to some colleagues out of Philadelphia and UCLA
*Dr Aaron Erden--he is a top neuro surgeon out of UAMS
*Children's Rare Disease Network
Tomorrow we have open evaluation at the Cerebral Palsy Clinic out of UCLA to see if they have any recommendations. Next Thursday we are meeting with our neurologist, Dr Peng and she will do a full comprehensive exam on Cali and Ryann. She will then order new MRI's for the both of them to be done out of UCI, which apparently has the best imaging equipment. After our neurologist writes her evaluation and we get new MRI images we will then determine if sending Cali's brain tissue from her cerebellum biopsy done in 1999 to specialists will help.
After all this the big fat ???? I am sure will still remain. According to my neurologist there is most likely not a cure or treatment. We are most likely dealing with a rare disorder. What scares the heck out of me is that these degenerative metabolic disorders get worse over time. The patient can learn how to control their muscles and still hit their milestones slowly but it gets worse. Dr. Peng is on our side and she says to never give up finding answers. She says we may not find a cure or treatment but a trip to the research lab to name the Spooner Family Gene. We say lets find answers to help Cali and Ryann.
First I want to start by saying thank you so much to all of our amazing and wonderful family and friends. We cannot express in words how grateful and thankful we are for all of your love and support. We are going through what every parent dreads. We love our little angels with all of our hearts and we want them to live a happy and fulfilling life. Their life may not be "normal" or "typical" but just happy. We are determined to find some sort of answers so that we can help them in any way possible. I am writing this blog to keep all our family and friends updated. This is not a fast process and we may never find the big ANSWER to our big fat ????? but we still want to keep you in the loop in our journey.
Updates so far:
After leaving CHOC our neurologist has sent Cali's and Ryann's MRI images to a top pediatric radiologist out of UCSF, Dr. Baklovich. We are waiting for his response to see if he has seen anything like this and what his recommendations for a genetics Dr would be. We cannot see ANY genetics doctor, we need to see someone who has dealt with rare disorders. We are hoping that Dr. Baklovich can point us in the right direction for a specialized TOP genetics doctor.
Our neurologist, Dr Peng and her colleagues have looked at Cali's medical records and now Ryann's MRI and they are thinking it is a rare degenerative genetic metabolic disorder. What the heck is that you ask? Yeah, me too. Google it and you will find plenty of information. Basically (and in human terms because we don't understand half of the science talk our neurologist says to us) metabolic has to do with the way the energy moves through the body. Cali and Ryann both have aggravated neurons isolated to the cerebellar region of the brain. This area of the brain controls muscles, balance and coordination. The pattern of damaged neurons on the MRI image is what is rare and the radiologists have never seen this pattern before. This is all dealing with the cellular level of the brain. These types of disorders are genetic and they are still uncovering and learning more and more information about these disorders. There is a lot we don't know about the brain and this is why there are SO many children that remain without a diagnosis.
We have also been talking with some other contacts and referrals from family and friends:
*Mark --- he works with the Childrens Neurological Foundation . He is sending our information and MRI images to some colleagues out of Philadelphia and UCLA
*Dr Aaron Erden--he is a top neuro surgeon out of UAMS
*Children's Rare Disease Network
Tomorrow we have open evaluation at the Cerebral Palsy Clinic out of UCLA to see if they have any recommendations. Next Thursday we are meeting with our neurologist, Dr Peng and she will do a full comprehensive exam on Cali and Ryann. She will then order new MRI's for the both of them to be done out of UCI, which apparently has the best imaging equipment. After our neurologist writes her evaluation and we get new MRI images we will then determine if sending Cali's brain tissue from her cerebellum biopsy done in 1999 to specialists will help.
After all this the big fat ???? I am sure will still remain. According to my neurologist there is most likely not a cure or treatment. We are most likely dealing with a rare disorder. What scares the heck out of me is that these degenerative metabolic disorders get worse over time. The patient can learn how to control their muscles and still hit their milestones slowly but it gets worse. Dr. Peng is on our side and she says to never give up finding answers. She says we may not find a cure or treatment but a trip to the research lab to name the Spooner Family Gene. We say lets find answers to help Cali and Ryann.
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