Saturday, July 6, 2013
Our big ball of HOPE keeps on rolling!
We can't say thank you enough to everyone for their love and support. Your love and support is what keeps us going and keeps us strong. We are filled with HOPE and optimism. It's an incredible feeling after 14 years of struggling with feelings of hopelessness. We have made leaps and bounds over the last year. We are so excited and motivated. We now finally have a diagnosis for our girls thanks to Exome sequencing through Ambry Genetics. Rick and I carry a recessive gene and together we have 1 in 4 chance for each of our children to inherit this mutated gene. The mutated gene is the NUBPL gene. Cali and Ryann both carry this gene, it is dominant for them and so they are effected, Raelyn is not. Cali and Ryann are both diagnosed with a mitochondrial disease called Complex 1 Deficiency. It's extremely rare, so rare in fact there are only two other people in the world published with this disease. The mitochondrial is the power house of every cell in our bodies. It requires energy to help the cell work properly. Cali and Ryann are both effected in their cerebellum. Their MRI's show a strange pattern of cells. This would explain their huge delay with walking, talking and comprehension. Unfortunately, there isnt a cure but thankfully there is treatment. We are now feeding them a "mitochondrial cocktail" of vitamins three times per day. We hope that these vitamins will feed their cells and help them to function more properly. Cali recently had a muscle biopsy done and the results show she is actually producing too much complex 1 so this is even more mind boggling for doctors. We just recently attended the Mitochondrial conferences and our geneticist actually had a poster up on our families case. Doctors are intrigued and scratching their heads as to what exactly is going on with our girls. We are still in research mode and will require a lot more testing but we are at least headed in some direction. The advancements in technology are truly amazing and I hope for other families to find answers like we have. Even though our disease is extremely rare at least now we know. Knowing is everything!! We were presented with the amazing opportunity to spread the word about Exome sequencing and tell our story. We said yes of course and we were blown away with the final movie. Micheal Squier with Ambry Genetics is so talented and knocked this out of the park. It is such a blessing to us and we are excited to share with you. All we ask is that you share too. The only way for us to keep moving on this path and help our girls find more answers is to keep looking and networking. We know that someday, somewhere, someone will watch our story and hopefully have more answers for us. HOPE is the key word here. We never imagined last year that we would be here with answers and our story to share in such a beautiful way. I look forward to next year when we can look back to this time and say WOW!, we have come leaps and bounds again!! Let's keep this ball of hope and answers rolling down the path of discovery!! Please watch and share our movie. www.thelifewelivedoc.com