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.
Saturday, February 27, 2010
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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