Genetics

Let me just say that I honestly have learned sooo much through this journey with Jayson.  I feel I could walk into a nursing job and feel comfortable doing 90% of what they do.  And at times, I have felt that I could be a doctor!  But there is one thing that completely BLOWS my mind that I will never understand.... genetics.  I supposed it goes back to my college biology class and how I struggled there.  I got the lowest grade I've ever received in that class, and I had a tutor!  I read and studied, studied and read and I still don't get it.

With that being said, perhaps I feel most anxious about these genetics appointments because I rely on these doctors so much.  I have tried and I can't begin to understand how genetics work and what might be going on with Jayson, so I have to trust them completely.  That is difficult.  They don't see my child but maybe once a year.  They don't see him at his best, and they don't see him at his worst.  They really don't know much about him.  They don't have time to read his file that is about 6-7 inches thick (That is, if you were to print it out.  Trust me, I have two 3 in binders filled myself.)  They come in the room and take a look at him for a few minutes, talk things over with me, leave the room to do some research on their computers, and come back with a plan.  And I tend to believe that they don't think much about him over the next few months.  How are we supposed to come up answers??

I have stretched my brain as much as possible over the past 14 months.  I have read chapters out of books, watched videos, read many articles, researched thousands of syndromes, and I prepared as much as possible for this appointment.  Since we were meeting with a new geneticist I didn't know what to expect.  It was very possible he would throw my research out the window and have his own theories.  It was possible I was going to look like an idiot, but I didn't care.  I would at least look like an idiot who cared very much about her son and did all she could to prepare for this appointment.


Fortunately, we had a very positive experience with our new doctor.  He was running an hour behind, and I was fearful he might try and rush our appointment.  He did not.  We had a full hour with him, and I even tracked him down later in the hall to ask a few more questions.  He had all of the time in the world for us.  And I really think he cares.  Those things matter a lot to a parent.

We were starting from scratch.  He had looked at Jayson's MRI and CT scans, and a couple of notes from our last geneticist.  That was it.  But he listened.  I was so glad that I took the time to write everything up for him so that we didn't have to take the time for him to write down everything I was saying.  Everything about Jayson's mental, physical, emotional and developmental health was on two sheets of paper.  We didn't even go over everything.  I also established right from the beginning where I stood.

Me:  "Dr. V, I fully understand that it is more UNLIKELY that we will discover Jayson's syndrome, than likely.  I hear it's about a 49% chance.  I get it.  But I will not rest until I know.  It's important for me to know for two reasons:  I need to know if Jayson isn't going to live beyond his teenage years.  I have to know that now.  And my second reason relates to the first-- I need to know before we decide to have more children.  I can be strong; I can even be supermom, but I cannot, absolutely cannot bury two children.  I am not that strong.  I need to know."

His eyes got huge.

Dr. V:  "Wow, that was really direct and honest."

He looks to my husband.

Dr. V:  "Is she always this direct?  You never have to wonder what she's thinking, do ya?"

No, you don't.  Everyone should know where I stand.  I always put it right out there.  I think I both intimidated him and earned his respect at that moment.

Dr. V went on to tell me that we may not find out.  He said there is a good possibility that Jayson's genetic mutation is unique and isolated only to Jayson.  In that case, it is likely it is a fluke, a crazy event that could never happen again.  It maybe genetic in nature as it relates to his genes, but it could never happen again to another one of our children.  He said it is possible that the mutation is X-linked, and in that case there is a 25% chance of passing it to another one of our sons and a 25% chance of passing it to a daughter who would be a carrier, but not affected.  He told us in every pregnancy there is a 3% chance of having a child with a genetic syndrome.  He encouraged us to focus on that number-- 3%.  He truly believes that is the likelihood of it happening again.  I'm not so convinced.  My personal opinion, at this moment, is that it's easy for a statistician to throw out numbers when it doesn't affect them directly.  I don't know that I'm ready to move forward and add to our family until I have more information.  Life and death of my child is not worth even a 3% gamble.  At least, that is where I stand right now.

He looked at every one of Jayson's physical features, from the tips of his toes to the hairs on his head.  He did not really make any new discoveries that we didn't know before.  He just confirmed some suspicions and things we had heard before.   I brought up that Noonan Syndrome was our frontrunner with our last geneticist.

Dr. V:  "No, definitely not.  He doesn't look Noonans at all."

He ruled it out immediately.  Crazy. I thought Jayse had "the look" but I guess not!

He looked closely at Mike and me, and analyzed our features.

Dr. V:  "It doesn't look to me that Jayson's unique craniofacial features really came from either of you.  He looks like his father, but his unique features clearly did not come from his father.  And if the mutation was linked to the father's family, we should see these things in his father and in his grandfather.  Some of his uncles may have the same features.  I don't think we see evidence of that, am I correct?"

Me:  "Yes."

Dr. V:  "It's possible, however, that it could be X-linked where the mother is the carrier.  We could rule that out if you, Jayson's mother, had many brothers, uncles, etc. who were perfectly healthy and typical.  What does your family look like?"

Me:  "Well, I only have a half-brother, through my father.  And I don't have any uncles.  So no brothers through my mother, and no uncles from my grandmother."

Dr.  V:  "Bingo.  It's a good possibility that Jayson's syndrome is X-linked.  We don't have a lot of males on your side of the family to disprove that.  You may be a carrier, and your mother may be a carrier, and her mother.  We just don't know."

Me:  "Kind of like this X-linked syndrome: Alpha Thalassaemia- Mental Retardation, X-linked (ATRX)?"

I handed him this paper with my research:


Dr. V:  "Wow.  Yes.  My thoughts exactly.  This is a very good possibility.  He doesn't have the wide smile we typically see, but it's a possibility."

I showed him a picture of when Jayson was first born.

Dr. V"  "Wow, he was born with a wide mouth.  Do we know anything about his hemoglobin?  Have you paid attention to the CBC blood draws?"

Me:  "Yes, hemoglobin is the only thing on his CBC's that really stand out.  But sometimes it's high, and sometimes it's low.  It's never been within normal parameters."

Dr. V:  "Interesting.  We need to order a specialized hemoglobin test.  That doesn't require an insurance pre-authorization and that would tell us right away.  If his hemoglobin is off, we will clinically know this is what he has.  I could poke him and test that today.  But I don't know that I want to do that today.  I want to think on this.  I want to do some research and study him a little more.  I want to read what you have prepared for me and I will need to personally go through the same process you did when you identified these syndromes.  You have clearly done your homework, now I need to do mine.  If we are going to draw his blood, let's get the most bang for our buck.  We may be able to run other tests without pre-auth that could lead us closer to his diagnosis.  For example, I think I also want to test his thyroid.  I don't want to poke him several times, so this is what I want to do:  I'm going to take the next week to study him and do some research.  A week from tomorrow I have a meeting where I can bring a patient to the attention of all of the geneticists and get their opinions.  I will show them pictures of Jayson, his background, and these documents you gave me and we will brainstorm.  At that point we can come up with different tests we can do with and without pre-authorization.  We will then have him come in for a blood draw and run our tests.  If we rule everything out, we can always run a genome sequencing test, but we don't really like those.  They are hard to interpret, but we can do it.  It may give us some answers.  But before we go that route, let me meet with our team and we will run some tests."

So that is where we are.  blood tests and maybe a genome sequencing test.  I love the direction we are going, but I am still very anxious that we don't have a solid plan with a timeline.  When asked when he wanted to see us again, Dr. V said, "Soon.  Very soon and regularly.  So about a year from now."  Wow.  A year from now is soon and regular in the genetics world.  The good news is that I have Dr. V's business card.  I admit that I'm crazy.  I have no problem leaving Dr. V swimming in emails and voicemails if needs be. haha  I hope it doesn't come to that.  I hope that we are well on our way to having some answers.

And some of you reading my blog are thinking, "Yes, but only 49% of unknown kids are diagnosed.  Don't get your hopes up Tristin."  But Jayson has never fit a statistic or expectation, and neither will I.  Those kids not ever diagnosed did not have me as a mother.  I will never stop searching and fighting.  We will get answers, or at least get closer to knowing.  I know it.  God has helped us get this far, and I know He will continue to bless us.  We are not a statistic.  I know we will continue to defy all odds!!!