We don't know.
We don't know any more more today than we knew a year ago, really. It is frustrating and a little discouraging.
So here is our 2018 genetic update... or perhaps, lack of one.
This fall I re-signed a paper I signed a year ago giving the researchers permission to use and publish pictures and information about Jayson in the publication about MN1. I asked when it might be published? I was told, "Soon." Last December I was told it should be published in the spring. Spring has come and gone and we are approaching the following spring, yet we are still waiting with no real timeline.
I have emailed our geneticist's office several times this year asking for updates. Each time I was told my geneticist was out of town and someone would ask him my questions once he got back. I haven't yet received a response.
I asked a research assistant working with our geneticist to please ask him for any updates. The smallest thing could be meaningful to our family. I was called back and said he had nothing to tell us.
Last December I was told that it was very likely that Jayson's mutation on MN1 was responsible for his craniofacial abnormalities. However, we were told at that time that it seemed Jayson was more neurologically affected than the other patients. He seemed to be more delayed and perhaps more complex than the others. We were told that this led the geneticist to believe he had another mutation causing some of his issues. When we discussed his epilepsy-imitator condition called Paroxysmal Tonic Upgaze and that it's often caused by a mutation on the gene CACNA1A, I mentioned that I have familial hemiplegic migraines... that are also often caused by a mutation on CACNA1A. We both thought this couldn't be a coincidence. He was intrigued and excited thinking maybe this could really be it. If Jayson had a mutation on MN1 and on CACNA1A, this could explain essentially all of his problems. We were told our geneticist would have to request that the lab reanalyze his and my DNA looking for this mutation. It may even be documented somewhere, but wasn't clinically significant when we were looking for a craniofacial syndrome. He wrote it on his list of things to do and follow up on. As I mentioned, I haven't received any updates. I have no idea if the lab has been contacted, or if they are looking to find this mutation, or if it was found, or if it wasn't there. I know nothing more than I did a year ago and there isn't really much I can do about it.
We had the huge blessing when our friends, another MN1 family, found us! I absolutely love them already!!! There are so many similarities... yet, there are so many differences. What does all of this mean? The other boy B does not necessarily LOOK like J. He hasn't been diagnosed with craniosynostosis, although it may be suspected by the family. He doesn't have a chiari. He doesn't have hypertelorism with his eyes spread apart. He doesn't have a flat nose bridge. He doesn't LOOK syndromic like J. Does that matter? With some syndromes the kids can all look differently and can vary from kid to kid. The other boy B is verbal, can run and does well in a typical class at school. Is B just at the higher end of functioning for this syndrome and J at the bottom end? B's mutation has a different variant number. Does that come into play? How? I know at least one of the other MN1 kids has the same variant number. What is that kid like? Is he more like J?
I don't know. I don't have any of these answers. And I don't know when and if I ever will have answers to these questions. I don't know if there is actually anyone who has all of the answers I'm looking for. Our geneticist would have some, but we were told last December we didn't need to make another appointment to see him. He said we would be in touch. Clearly we aren't.
I still have a lot of hope. In my heart I really hope and believe we are getting close to answers. I think they are right around the corner. But in genetic time, right around the corner could take years. Maybe decades. Will we run out of time?
It's difficult because I feel this is completely out of my hands. I don't have any control over the situation or how we might move forward. I have joined all of the websites that help undiagnosed or rare families connect. No one else with an MN1 mutation is registered. One of the sites GeneMatcher asks for a lot of information about Jayson and sends me an email when another MN1 patient is entered. It can be entered by a family member, researcher, or clinician. It can even be duplicated so each new entry do not necessarily mean a new patient. Even though it asked for a lot of info about Jayson, the website does not give me really ANY info about the other patients or families. Nothing. Just a number they assign to the patient and the email of the researcher or clinician. When I click on the tab meant for families, it's not really developed yet. So for now, it's designed to help clinicians and researchers, not families. Yes, I've contemplated being that crazy mom and emailing all of these researchers and clinicians all over the world, begging them to give my contact information to their families and to give me any information or updates they have. But I worry they will tell me what I already know... a publication is coming out soon and HIPPA prevents them from making any contacts. A part of me fears that maybe the families don't WANT to connect with me and other families. It's not hard to find us!! I've created hashtags, a Facebook group, a blog and if you google search MN1 or #MN1 my info, pictures, blog and hashtags come up. If other MN1 families were really looking for us, wouldn't they find us? Our new friends did, just days after hearing B had the MN1 mutation. I feel discouraged and wonder if I were to bother these hard working, busy researchers and clinicians, would it even result in anything positive?
So we find ourselves in limbo. We are in a weird place, sort of a waiting place. I'm not a fan, but at least in this place there is still a lot of hope. Is Jayson diagnosed? I guess technically no, not yet. Not until something is published declaring MN1 a gene of clinical significance causing a craniofacial syndrome. Is there a possibility that Jayson will be diagnosed in the near future? Yes, I'm still hopeful that will happen. Is it possible that after all of this, it may only result in a partial diagnosis? Yes, that is a very real possibility. And is it possible that we will discover that none of this is significant? As much as I don't want to admit it, I suppose it is. I am praying hard we will know soon.
In the meantime, I'm trying to just focus on my boy and the many miracles we see on a day to day basis. He is accomplishing so many amazing things. I try and keep focused on him in the here and now, and not on his diagnosis and the future. But it is still constantly on my mind. Every day when I wake up, I wonder if TODAY might be the day... maybe today we will get word that the publication is published. Maybe today we will gain new information we didn't have before. Maybe today another family will find us. Maybe today will be the day that will change everything. And if it's not today, maybe it will be tomorrow.
I may be frustrated, but I'm not giving up the fight. I may feel discouraged, but I'm not giving up hope. It might be hard, but I'm trying to be optimistic, positive and patient. I think one day our journey for a diagnosis will end. I believe one day Jayson will be among the diagnosed. I'm excited to think that one day, it will be TODAY.
To read previous blog posts about our undiagnosed journey, please see the following in the order of most recent to less recent:
We Are Not Alone
A Diagnosis
Searching for Mutations on MN1 Gene
Renewed Hope
Genetics Appointment- Another Disappointment
We Won the Lottery
Undiagnosed? Not For Long
