Genetics!!!!

Today, I was a mess.  I was literally shaking with anxiety.  I hate that so much can ride on one person and one appointment.  We get ONE hour every 12-18 months to come up with a testing plan towards finding a diagnosis.  What if the doc is having a bad day?  What if he's running late?  What if technology is down?  What if I piss him off?  Soo much can make an appointment turn badly, and there is little to do but wait for the next one...18 months down the road.

I stayed up literally all night doing research.  I created and shared this beautiful photo of my boy yesterday, and shared it with the social media.

In ONE day there were 400 shares, just off of my personal photo.  From other groups and other friends, I suspect there were even more.  I was very humbled and in awe by how good people are and how much they want to help.  I received hundreds of FB messages and emails, all with ideas and suggestions of genetic conditions to look into.  There were many brought to my attention that I had never before crossed in my research.  To every person who commented, emailed, private messaged and shared this message----> THANK YOU FROM THE BOTTOM OF MY HEART.  I think you played a big part in our results today.

The response was amazing, and so helpful.  I spent hours and hours researching based off of the suggestions from current and new friends across the world.  I came up with these top contenders, and prepared these documents for our geneticist.

I was ready to go.  Ready to get the ball rollin.  Ready to make a plan.  And not willing to back down.  I had to be prepared for another negative experience with our geneticist, but I had a plan as to how I would handle it this time.

Fortunately, I didn't have to use it.  This appointment was such a different experience compared to last time.  I'm almost curious to know why. :)  I think there may be someone awesome on our side making things happen lately, or some outside pressure, but lately doctors have been bending over backwards to help us and come up with answers for J.  Quite honestly, I think I may scare them a little. haha  Yup, watch out for the crazy helicopter mom!!  I'm a little intense, and kind of get serious when talking about my kid.  Although I'm really a gentle, peace-loving, kind-hearted person, I come off a little intimidating when it comes to my son. :)

We spoke with a resident for about 25 minutes, and filled her in on the ins and outs of Jayson.  Then the geneticist came in with four other doctors/students.  He said Jayson has a very long, complex history and they were all trying to read through it but it was all too much to catch up on.  Hmmmm....And I was thinking things have been slow and calm the past year and half..... :)  Our geneticist sat down, looked and Jayson, looked at us and said, "You know, you had some good ideas for syndromes, I have some ideas, but they're all just ideas.  They're all possibilities.  We can spend $3000 a piece to study a particular gene to rule out a condition, or we can do what we need to do... I think we need to do WHOLE EXOME SEQUENCING."  ??????????!!!!!!!!!!!!!!!!  I seriously thought about pinching myself to make sure I wasn't dreaming.  He wanted to do whole exome sequencing.  That is what I wanted, but I didn't think it would happen.  It wasn't even on my list of things to bring up this visit!  It has been made so clear to me that this is NOT going to happen due to money, due to insurance, due to lack of technology, due to inconsistent test results, due to politics.  But now, he said it.  I was hesitant to get too excited, given the fact this doctor has a track record for lack of follow through.  So I just listened.

He mentioned that we have quite the team behind us, doctors, therapists, social workers...  He said they are all pressuring him to do the exome sequencing for J.  He then mentioned one doctor in particular and said, "And you have Dr. M on your side.  When she writes me and says something needs to be done, you do it."  Oh my goodness.  I love love love our Comprehensive Care doctor.  She is seriously a combination of a guardian angel and a superhero.  She said she would write our geneticist, and she did.  And she wrote him in a way that he respected.  I appreciate and admire her so much.  Our geneticist mentioned a couple of times the strong team of doctors we have unified on our behalf.  I am so grateful for them!!

When Mike and I have heard of and talked about exome sequencing in the past, we heard things like, "Only 30% chance of getting results", "$10,000 test and unlikely covered by insurance", "gives conflicting results because EVERYBODY has mutations on genes, so it is often hard to determine which genes mutations are significant causing the health problems" and "often inconclusive".  Today, we did not hear any of those things.  Today we heard nothing but optimism.  Today we heard things like, "After this test, we should know", "J's mutation is likely to show up on the test", "$5000 test and likely covered 80% by insurance", "technology sorts through the mutations looking for anything that might be significant, then human eyes look through a microscope to find the exact mutations that could be causing J's issues; it is very probable we will know J's diagnosis in just weeks".  I do not know why the tune changed so quickly, but I suspect there is some type of politics involved caused by pressure from insurance companies.  I'm constantly surprised to learn the influence insurance companies have on hospitals, doctors, protocols and patient care.  Due to costs to insurance companies, I think doctors are encouraged to stay away from this genetic test.  Our geneticist is one of the most experienced in the department, and he said he's only written a couple of orders for exome sequencing, so it's rare.  But he's willing to write the order for J which is a great blessing!!  It looks like we are getting answers!!!

And we have a back up plan.  If insurance denies our request, and we appeal and that ends in denial, we can potentially participate in a research study with a local lab.  This is also an option if for some reason we don't get answers from the exome sequencing.  By participating in the research study, Jayson's, Mike's and my DNA will be sequenced and analyzed, free of charge, for research purposes, and we can reap the benefits.  This could take a long time, and we have no control of the situation, but it's still an option.  Currently, I am hopeful that our insurance company will fulfill our request, as it is honestly in its financial best interest.  If not, we have options, and we will still get answers.

Our geneticist did not think testing for individual syndromes was the way to go.  All of the syndromes I listed today were possibilities.  None of them fit completely.  And due to all of the help I received, we had a lot of good possibilities.  It made more sense to do the whole exome sequencing.  I SERIOUSLY OWE THAT TO SO MANY OF YOU WHO OFFERED YOUR HELP AND SHARED JAYSON'S STORY.  Without so many good leads, I'm not sure he would have decided to look at all genes, instead of just a few specifics.   The doctor also mentioned the micro-array we already did tested for some of the possible syndromes already, but the test isn't always accurate and would require some more specific gene testing.  MecP2 and CDK-L5 were our closest leads, but he doesn't think they explain Jayson's craniofacial abnormalities, or why he looks different.  He said with those syndromes the children tend to still resemble their parents, that they don't have a "look" to them.  He thinks Jayson has a syndrome that is focused on the head and brain.  Most of Jayson's issues and conditions are from the neck up.  His other problems are likely related to the brain or respiratory issues. He voiced particular concern about a couple of issues:

• Jayson's head size, microcephaly

Jayson's head size has not grown since he was 8 months old.  Not at all.  In fact, it has been argued that it may have even shrunk in size.  That is not good.  That is really not good.  His plates didn't fuse early, yet his skull has the structure as if they did.  His brain is either not growing, or does not have the space to grow.  That means there is either a problem with his brain, or with his skull.  Both are not good options.  He is really wanting to get an understanding as to WHY this is.  His MRI is clear.  His EEG's don't give us good information.  Why have no indication as to WHAT is happening or WHY it's happening.  We need answers.  We need treatment options.  If not, Jayson's future is not looking so good. In the meantime, we got another referral to the craniofacial surgeon.  We have seen him once before when Jayson was just a couple of months old and we were told we would see him again at some point in the future.  I always hoped they were wrong and we could avoid craniofacial surgery in Jayson's future.  We are looking into getting a 3D CT scan of Jayson's head and focus on his bone structures.  We are assuming there is more wrong that just his Chiari and C1 hypoplasia.  There are likely more skeletal defects.  They could be causing pressure on his brain, his chronic ear infections and ear pain, his breathing issues, etc.  But once found, the treatment is typically very invasive surgery involving bolts in the skull and a titanium halo for the course of 6-12 months.  I'm trying to tell myself we'll cross that bridge when we get there, but I've had doctors show me images of what I may expect in our future... and I can't get these images out of my mind.  Here's a kinder version for your visual pleasure:

• Jayson's progressive seizures that are difficult to identify, define and treat

The geneticist was really interested in our description of Jayson's seizures.  He labeled them in a particular category (that I should have written down cuz I can't remember, but I thought it started with an "i") and that they concern him.  Jayson had a couple of seizures in his office, and the doc identified them.  He seemed pretty concerned and said we need to try and figure out what is happening, and what is causing his seizures.  So far, we have no leads.

• Jayson's neurological episodes and behavior

The geneticist was also interested in our description of Jayson's night time and sleep behavior as of late.  He fully believes it is neurological and due to his brain.  He is fearful it may progress.  He saw Jayson's sweet, calm, docile self, and he read reports of Jayson's intense episodes (hysterically crying, hysterically giggling) and he said he does not think they are behavioral.  He noticed a lot of Jayson's subtle mannerisms, and they concerned him.  He would just stare off, stare at an object studying it for minutes at a time, and just wring and play with his hands.  His staring and focus are definitely in line with Autism Spectrum Disorder and he encouraged us to seek an official diagnosis.  I don't know that we are ready to cross that bridge just yet, but the doc thinks these mannerisms are also linked to his brain and genetic condition.

At the end of the appointment the doctors stepped out to come up with a plan.  The geneticist asked a valid, yet funny question... "So since you have such a strong team, who would you say coordinates and spearheads the team?"  I went to respond, but before I could all of the other doctors in the room said out loud in unison, "Mom".  Yup.  I'm the crazy control freak mom.  But because I'm crazy, my son is still alive.  I'll take it!

All in all, a very productive appointment.  Within 10 days we should have the doctor's order for exome sequencing in the computer and the letter to the insurance company in the mail.  Then hopefully weeks later, we'll have approval and be one GIANT step closer to answers.  Right now I feel victorious!  But I think that will only last a few days.  It is already settling in that we may have answers soon.  Answers are hard.  Really really hard.  And we've had many reasons to think lately that answers may be discouraging.  I fully suspect that there will be a time when I wish I could go back to this moment... not knowing.... wondering.... and hoping.  There is hope when there is no prognosis.  But it's a fool's hope, a false hope.  It's ignorant bliss, and nothing is gained from ignorance.  There is much more to be gained from answers-- better, more specific and specialized treatment options, a potential timeline, some expectations, and some comparisons.  And there is often a group of supportive parents with open arms ready to comfort the newest member to their club.  I will move forward with faith and courage.  We have tackled every obstacle we've encountered the past two years, and I know we will conquer many more.  My boy is perfect inside and out, and no diagnosis can ever change that.  Our family is forever, and no test results can ever change that.  And God has always given us the strength we have needed to persevere; that will never change.  Additionally, we have one of the best support networks anyone could hope for, comprised of family, friends, and strangers.  Your love and support lifts us up, and your prayers and kind words comfort us.  Thanks for everything.  Together, let's see what this next chapter brings...