At the end of February we had our second annual Utah Rare symposium. Oh my, it was just as good as last year's! Last year's symposium was when we got connected with GeneDx, the lab that said they would run Jayson's Whole Exome Sequencing. We made connections and learned so much. It really empowered us as rare parents and advocates. At the end of this year's symposium, I felt empowered and encouraged once again. I couldn't take a break. I just couldn't. I can't stop fighting for Jayson and answers. It's not who I am to give up, step away or take a break. A geneticist from our children's hospital spoke and I knew he worked closely with our geneticist. I found him after the symposium and asked him some questions. I explained our current situation. I explained that one mutation Jayson had was on MN1, and he was said to be the first child with a new mutation on that gene. We had since found out there is another child whose lab results in California state he had skeletal abnormalities, seizures, neurological conditions, and craniofacial features. I said that Jayson and this child has the exact same variation number, and that I felt that had to mean something. I asked him if that alone was enough to constitute further investigation? I asked him what I should do since the lab was not cooperative in helping me connect with that other family? I asked if I really should take a break as suggested, or if we should try and find this other family? He told us since that variation is exactly the same and they share similar conditions that was definitely worth looking into. He didn't recommend taking a break. He asked who our geneticist was and why he wasn't interested in pursuing this. Since our geneticist is his colleague and close friend, he acknowledged how busy he is and may be focusing on some other families right now, but he encouraged us to write him an email and restate these facts. He gave us his own contact information as well as the contact information for a lab that may help us with Whole Genome Sequencing. He told us not to give up, to keep fighting. That was exactly what I needed.
I was at a special needs Family Leadership Conference this past week in Washington DC. I missed several calls, including one from our pediatrician's office. I called our nurse care manager back on Friday, April 1st and left her a message. She returned my call and we discussed business-- what doctor visits were coming up, which needed to be made, which procedures needed to be scheduled and when, etc. As we were wrapping up our conversation she said, "There's one more thing..."
She told me that GeneDx had contacted our pediatrician and said they had been looking into the two gene mutations found on Jayson's Whole Exome Sequencing. I expected her to say that something new was found, because a lot of times they will rerun the DNA after getting new information or technology. But I was wrong. I was never in a million years expecting what I heard next. "They have been studying the mutation on MN1... and they found several more families with this same mutation all over the world, including a couple in the Netherlands. This may in fact be a significant gene. They sent photos to Dr. T of some other kids who have this mutation..."
I literally held my breath. I was so scared to hear what she might say next. "And what does Dr. T think? Do they look like J?"
She continued, "He thinks they look just like Jayson."
I started to cry. I could not believe it. Wow. Just wow.
I held my breath again. What are we going to do about it? Please tell me this might mean something and we can do something about it!!
She added, "GeneDx asked for photos of Jayson and to have open access to all of his medical records. They are interested in starting a research study on this gene. We will have to find out what kind of consent form we need to have you sign. I'm assuming you are okay with giving consent?"
In between sobs, "Yes!! Yes, of course we are! I'm crying. I cannot believe this! I know that this still might not mean anything. This might lead to a dead end, but it might be something! And least we are moving in a good direction. At least something is happening!!"
She said Dr. T already sent an email to our geneticist. Our geneticist is extremely busy and terrible at replying to emails. Just as the nurse and I were discussing that it may take days or weeks for him to respond, she said she got an email. It was from our geneticist! He was not super supportive or optimistic, but was willing to cooperate. He explained he still believed this to be a gene of unknown significance and unless there is some new information, he still believes it is not significant. He stated he was not interested in any way in researching this gene, but if GeneDx wanted to fund and head up the research, he would send them anything they needed about Jayson. I'm not certain how much Dr. T told him, but clearly there is new information!! Our nurse care manager told us she is going to follow this really closely. She promised me she will not let this fall through the cracks. She said we could be on the front lines of discovering a whole new gene and syndrome. Jayson could have been the first, and it could result in answers for many families. This could be it. This could be the start of our genetic journey.
Ironic this happened on April fool's day, isn't it? But it's no joke. April 1st may be the day we remember forever. This may be the day that changed everything. This may be the day we started to receive answers and began a new journey. April 1st may be OUR day.
As I began to process this new information, I had a new realization. Immediately my eyes welled with tears. I turned to Mike and said, "Mike... if we can determine in the next couple of years that MN1 is the gene responsible for Jayson's conditions, we can have more kids. MN1 was a de novo mutation. It was fluke and would not happen again."
We couldn't stop smiling the rest of the day. We may be on the verge of answers. We may be able to grow our family. We may be able to live our dreams. This may change absolutely everything.
We picked up our niece from day care and headed to the zoo. Mike and I were smiling ear to ear as one of us pushed Jayson in his wheelchair and the other pushed June in her stroller. We were thinking the same thing. This could be our family in a couple of years. We never dared to dream that we could have more children. Mike looked at me and said, "This would be perfect, wouldn't it?" Yes Mike. Yes it would.
Please pray for our family, the researchers, the lab GeneDx, the doctors involved, etc. This is a HUGE process with many people involved. I have already learned about the frustration involved with research studies. Families are usually the last to be informed about updates and findings. There is a lot of effort in trying to change that, but for now that's how it is. I know it will be hard to patiently wait for possibly years for answers, but we will be praying hard that they come. Until then, we have so much HOPE. Our hope and positivity has been renewed. With this news and the fact Jayson is doing so well right now, we are in a very good place to wait for answers. And in the meantime, I will do the little things I can. I plan to use social media to try and connect with this MN1 families. I know science and medicine have to do a lot to "prove" something. But all I need is to see pictures of these children and learn of their symptoms, and I think that is enough for me to make my own conclusions. We will need your help to try and spread the word and find these families, but I'm optimistic that it will happen.
I have to say a HUGE HUGE THANK YOU to GeneDx. I have been shocked and amazed to learn there is a lab that is so patient and family focused. They make testing affordable. They want answers for families. And now we learned they don't stop looking for answers. Our hospital and geneticist were not able to get us testing. GeneDx did it for us. Our hospital and geneticist were not able to investigate the significance of the findings. GeneDx is doing it for us. This lab is literally changing lives and contributing greatly to the medical world and precision medicine. I cannot speak more highly of this lab. I encourage anyone who is feeling lost in this undiagnosed odyssey to reach out to GeneDx. I promise you will not regret it!!
Thank you for your continuous prayers, thoughts and encouragement. I know without them, we would not be where we are. I don't know what exactly may be in our future, but I'm fairly certain it will be amazing.
Hooray and God speed to the medical staff at GeneDx
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