Genetics Appointment- Another Disappointment

I waited so long for this moment... for the appointment we would have AFTER getting Whole Exome Sequencing results.  If only I knew it would be anticlimactic.  We don't have answers. We have nothing.

To start, I’m going to just say it like it is.

Our geneticist literally did nothing in researching J's two gene mutations, and he said there is not much more he can do for us and will touch base with us in three years. He previously told us, the hospitalist and our doctors he would be prepared to discuss these two gene mutations with us at our appointment, what they mean, what he found in research, what research he may perform, etc. He did NOTHING. Instead he was asking me about the research articles, studies, lab results and cases involving these two genes, and I had already emailed them to him to read! He was not even familiar enough with these mutations to have a conversation about them. Even though there is not a lot of information about these two mutations, he still agreed that either one of them very well could be the cause of Jayson's conditions. However, due to the lack of information about these two genes, he does not believe it's worth his time or research to look into them further at this time.  Instead, he told me to keep researching, keep using social media as a resource and keep him apprised of what I find, and I just might get a diagnosis for my son or find other kids like him. Thanks. My doctors last week told me to take a step back and be Jayson's mom instead of his doctor, and trust our geneticist to be our doctor who will get us answers. Clearly that it isn't going to happen. That responsibility was once again given to ME by our own geneticist.

Not only do I have the weight of trying to find a diagnosis back on my shoulders, but fear has again entered my heart. Our geneticist believes SMARD is unlikely, but still suggests we consider it and do some more testing. He said he would not be able to sleep if he were in my shoes given my son's concerning respiratory conditions and possible connection to SMARD, so an EMG is necessary. A new concern was also brought up that I can worry about---Jayson's spine, gait, and some ambulatory concerns. As a result, J got some more x-rays and we are adding Jayson's 19th doctor to our team, an orthopedist.  The x-rays revealed Jayson does in fact have a rare type of scoliosis that is usually found in neuro-muscular diseases.  It’s mild, but another thing to worry about and monitor.

After this appointment, I felt stressed, discouraged, scared, broken hearted, frustrated, lost, overwhelmed, uneducated and very alone. I'm so ready to be DONE and accept things as they are, but I don't know if that is the best decision for Jayson. For him, I feel I need to keep fighting for answers! I am going to take some time, talk to Jayson's heart, and carefully consider what is in his best interest. Maybe it's best for him to have a mom who is as present as possible opposed to one who is constantly trying to balance work, research, contacting doctors and caregiving all of the time. But if answers, a diagnosis and treatment are truly what he needs, I will find the strength and keep fighting. I just wish I didn't have to fight alone.

I took some time to reflect, and try and get back to a positive place.  It was challenging, but I was able to find a several highlights in our disheartening genetic appointment:

                                                                                                                           

Our geneticist may not have done what he said he would, nor has he really helped in finding a diagnosis, but he is really nice and supportive. He complimented us several times on our persistence in getting Jayson's seizures diagnosed and treated. He has always strongly felt J was having seizures. When I told him J got that diagnosis due to our thorough and supportive neurologist, he said, "No. YOU always knew. As his parents, you KNEW they were seizures. You didn't give up, and you waited for us to listen and learn from you." He told us we have a wonderful neurologist and comprehensive care doctor behind us 100%, working hard to get Jayson the best care possible. He recognized that we have done a lot on our own for Jayson as his parents, including getting the Whole Exome Sequencing done, and that we take care of our precious boy and his needs every hour of every day without rest or reprieve. He emphasized the incredible role I have as J's mother and caregiver and that I never rest, ever. 

He is the doctor who suspected Jayson's craniosynostosis last year and he carefully looks for things that may have been missed. Today he suspected scoliosis in Jayson, and after looking at the radiology report online it looks like Jayson has scoliosis and another spinal condition that suggests he has a neuromuscular disease. This is more telling information that may lead us in a direction towards answers. Not what this mama wants to hear, but I'm glad he is being thorough and finding things. 

It was evident this visit that he had read Jayson's history and everything that had taken place over the past year. Although I was frustrated he didn't pay attention when I previously informed him of another MN1 family in the western US, we told him today we really wanted to get in contact with the other family with a mutation on MN1. I tried on my own and could not be successful; I was told it could only happen through our geneticist, and he agreed to help with the contact if we started the process. 

He is going to work with our Comprehensive Care doc to get Jayson into the new undiagnosed clinic at Primary's. The primary purpose of attending this new clinic is primarily to get Whole Exome Sequencing, which we just did. So I asked if we can work towards Whole Genome Sequencing. He resisted a little and first saying the genetic world isn't ready to sequence the genome (not entirely true) and that isn't easily accessible (not true either), but I shared with him what I learned about at our genetic conference about Whole Genome Sequencing. He then nodded and mentioned the Utah Genome Project and said he will suggest Whole Genome Sequencing for the whole family as a goal for our undiagnosed clinic visits. 

I asked him about going to Boston, since a doctor there has started to take a special interest in Jayson who used to work in our hospital. He said to do the EMG test and if there is abnormalities, he suggests hopping on a plane to see her. He said there may be many more options, specifically clinical trials, for us in Boston. He is not a proactive doctor, but he is kind, he listens, and he is not too proud to say we might get more help elsewhere.

I may be frustrated, but it is clear to see that some good came out of this appointment as well. He really complimented and validated me and Mike as Jayson's parents and caregivers. Given what we've been through recently, we really needed that. He listened and agreed to some of our ideas and suggestions. He supported us in getting more help out of state if the tests support it. He is thorough and has found now a few conditions that Jayson has that have previously missed. I can't tell you how many doctors checked his head for craniosynostosis and missed it and now how many have checked his spine for scoliosis and abnormalities and missed it. I might be frustrated about his lack of dedication towards finding answers for J and this appointment did not go at all how I hoped. But a lot of good came from it, and for my sanity and happiness I am going to focus on that good and move forward. We can do hard things. And we will.