Today I received a phone call from our Genetic Counselor from Cardinal Glennon. She first wanted to check on Jack and I to see how we were holding up. I am so grateful for the care that Cardinal Glennon provides. They are so very thoughtful and kind. She stated that she was nervous to call me and had some further information regarding Jackie’s Genetic testings. There have been advancements in the medical field and they now know more than what they did originally. Remember how I had come to terms with the fact that I would not be able to have answers for Jackie and have the promise of future pregnancies? Well…turns out…I actually get the best of both worlds! Happy late Birthday to me! Happy early Christmas! Most importantly Happy Birthday Grandma Jan! Today is literally Grandma Jan’s Birthday…and what better than to have further answers today!
My voice cracked over the phone as I spoke to our Genetic Counselor as I stated over and over again how blessed I feel that Jackie is going to be able to help future babies. It brings me great happiness, tears streaming down my face, and a lump in my throat to share with you that our hopes for his conditions are coming to fruition. Our hopes were that he would be able to help serve the medical field. That his conditions would lead to new findings, help babies after him have a fighting chance, and that he would make an impact.
If you all recall, Jackie’s genetic testing came back with two findings of mutations. The first was the MYRF, which they call a candidate gene. This was a genetic change that happened new in Jackie, it was not inherited. Originally they believed that this gene played a role in how electrical impulses move throughout the nervous system and they did not believe that this mutation, even if problem-causing, explained Jackie’s medical conditions. The other mutation was the DHCR7 gene, in which Jackie inherited from Jack.
The phone call today was in regards to the mutated gene MYRF. The genetic counselor was getting our permission to release all of Jackie’s records to a case study that is currently being approved to be published. As of now the original belief that this gene played no impact is just not the case. There are 4 other kiddos with similarities to Jackie and this mutation just may be our answer that we thought we would never have. Specifics are still very grey at this time and I am sure you all will have many questions…we do to.
Cardinal Glennon will be updating me via email and I will share with you what I can. Until then just know that Jackie is making an impact, he is helping to advance the medical field, and his conditions are leading to new findings! He is scheduled to be apart of a publication in the American Journal of Medical Genetics and my heart is overflowing with emotion. This finding not only could be our answer…it also with no doubt confirms that we have a less than 1% chance of this occurring to future kiddos.
We love you Jackie!
#ourjackofhearts #angelmommy