24 Feb 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.