Undiagnosed??? Not for Long...

We've been on quite the journey.
Little J's Journey
And within that journey are dozens of other journeys
including our genetic testing journey
the journey for answers
our journey for a diagnosis.

Remember this post?

November 2013

"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!!!"

Unfortunately, my optimism was crushed in this post.

December 2013

"My husband soon returned home from work and brought in the mail.  I noticed the return address from Primary Children's Hospital and KNEW it was the letter from our geneticist.  I was ecstatic.  It was three pages long!!!  The first two pages described Jayson's history and details about his physical appearance, almost as a summary building up to the plan.  During one paragraph, my integrity was questioned as he said that although I said we had met with our previous geneticist three times, he only has record of a drop-by when we were inpatient.  There are no records of our clinic visits with our previous geneticist.  Therefore, this visit in November 2013 with Dr. V is counting as our first "official" genetics appointment.  Not good.  And our previous geneticist had a terrible accident and is not able to help us find those records at this time.  That's a big blow.  In another paragraph, Dr. V either intentionally or unintentionally forgot our conversation.  He said that I directed the conversation and that it was MY idea that Jayson had an X-linked abnormality and that it was disproven due to the fact that all of the males in my family were fine.  NO. No, no no.  Dr. V told me that the syndrome I researched, Alpha Thalassaemia Mental Retardation X-Linked, was a complete possibility whereas he believes that Jayson's genetic syndrome was X-linked.  He asked about my family history and I told him I did not have any uncles or brothers on my mothers side that could tell us.  We also know with X-linked genetics, that women have more frequent miscarriages who are carriers.  And it is also more likely that the woman's body will more likely abort or miscarry a baby with a genetic defect.  So really, it was a real possibility that Jayson's syndrome was X-linked.  HE told ME that.  And now in the letter he said that was my idea, and that Jayson's syndrome is not likely X-linked so it was not worth doing the tests we discussed in our appointment.  The last paragraph stabbed me in the gut, slapped me in the face, and broke my heart all at the same time.  It said that there was no further testing needed at this time.  NO FURTHER TESTING NEEDED AT THIS TIME."  

Which was followed by a feeling of defeat in this post.

May 2014

"It was clear in that moment that this woman, doctors, insurance companies, and 99% of those in this world had absolutely NO IDEA what it is like to be in this situation... undiagnosed.

Let me tell you something... having a diagnosis would change EVERYTHING.

So when someone tells me that a diagnosis wouldn't change anything, I get very angry.  I get very upset.  I feel very alone and defeated.  I cannot change what people think.  I cannot change the medical system or the insurance policies.  They don't make their decisions based off a mother's perception of life and emotional well being.  They make their decisions off of research and money.

And I wish it were only the medical system and insurance companies I had to battle.  But that's not all.  I have to battle science, society and reality.  I posted in my support groups today about this same topic.  Which genetic tests should I pursue?  The truth is, it would be a waste of my time, energy and resources to pursue testing.  Even the parents of medically complex children told me it wouldn't change anything.  Medical science is still progressing and testing is so new.  If we actually came up with a particular gene that caused Jayson's problems, it would likely be so new and undiscovered that it wouldn't tell us anything.  A geneticist once told me that there are something like 24,000 genes... and we have only been able to identify 5,000 of them.  ONE FIFTH.  The likelihood of Jayson's defect being on one of those 5,000 genes is slim to none.  And even with those 5,000, we do not know very much information about genetic defects related to most of those genes.

....................................
So science wins.  I admit defeat.  I'm not going to know.  I get to continue life wondering just how long my son will be with me.  I get to continue wondering if this cold will take him to the PICU and threaten his life.  I get to continue wondering if my son will ever be able to walk, or eat without a feeding tube, or say, "I love you mom."  I get to continuing celebrating his small successes while secretly wondering if he will regress and lose all that he has gained.  I get to continue this day-to-day battle, not ever knowing what tomorrow brings.

But I choose to focus on today.  Today my sweet boy grabbed my lips every time I said, "I love you".  Today Little J sang, "Let It Go" with Elsa with his squawks and hollers.  Today Jayson is sleeping in his crib without oxygen while battling a cold and still keeping his saturation up.  Today we will work on therapy, we will snuggle, we'll giggle, and we will play.  Today I don't have to worry about tomorrow, and tomorrow I'll try only to worry about today.  Because the most important thing I have learned through this journey is that every day is a gift.

Every day with Little J is precious.  A gift I will never take for granted."

I got recharged, and rededicated myself to finding answers in this post.  I asked for all of your help, and I received hundreds of emails and messages!!

September 2014

Our last genetics appointment was discussed in this post.  We finally had an order for Whole Exome Sequencing!!

September 2014

"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. 

....................................

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."

The order for Whole Exome Sequencing was sent to insurance, and we asked you all for prayers that insurance would approve the request in this post.

October 2014

"So I have to focus on what I CAN control.  I can control my faith.  I can exercise my faith.  Now is a time to pray, and pray a LOT.  And we have been blessed by the miracle of fasting in the past, and I fully believe now is another time in which God can bless us for our faith.  In my faith we believe that when we both fast and pray there is great power, because we are showing sacrifice.  It is easy to constantly be asking God for things and hoping he blesses us, but it is more meaningful to Him when we show sacrifice ourselves.  In my faith, this upcoming Sunday is our monthly Fast Sunday.  I am asking for those members of my LDS faith to remember our family during your fast, and to pray that the insurance company may preauthorize our request for Exome Sequencing.  For those not of my family who believe in God and the power of prayer, I request that you please remember my family in your prayers and ask for this preauthorization to be granted.  You may also participate in a fast with us by missing 1-2 meals and praying on our behalf.  Mike and I will be fasting on Friday, October 10th.  We do not want to wait until Sunday, and we will be out of town, so we plan to fast on Friday.  I have also seen miracles happen when many people fast and pray together, and that is why I am asking you for your help.  For those who do not believe in organized religion, you play a big part in our journey as well.  You, too, have greatly blessed our lives with your positive thoughts, encouragement, and hope.  I have had several of my dear friends who do not believe in God still participate in a fast, as it still shows dedication to the cause.

So whatever your beliefs, please pray with us, hope with us.  We need a miracle, and we know with your love and support God can provide us with one, again.  We love you and thank you for all of your love and support."

The latest update I couldn't even bring myself to post in my blog:  Insurance denied our request for Whole Exome Sequencing.  We hit a dead end.  It seemed hope was lost.

But then.... this happened:

I met a couple of incredible moms while testifying for HB199 on Capitol Hill.  One met briefly with me after a meeting and told me to attend the first annual Rare Symposium, sponsored by the new organization Utah Rare.  Little did I know that mom was the creator of that organization, and that her comment changed my life.

I attended the Rare Symposium, and I immediately felt at home.  I found my place, my niche in the special needs community-- among Rare and Undiagnosed families.  The speakers were beyond amazing.  I left feeling empowered, changed, fired up, rejuvinated and rededicated to my mantra-- WE WERE NOT A STATISTIC.  I didn't care that 51% of those with genetic mutations won't have a diagnosis.  49% do.  We are not a statistic.  Jayson has never fit into a statistic, a norm, a number.  And those 51% who aren't diagnosed do not have me and Mike as parents.  The statistics don't matter.  We would find answers, and I wouldn't rest until we do.

I met amazing people-- other parents, film makers, researchers, creators and directors of non-profits, and genetic lab companies.  I walked away with a slew of resources.  

But one thing stood out far beyond the rest--- a particular lab company.

I spoke with GeneDx and listened to their spiel.  I was one of the first to approach their table since I was early, and I had plenty of time to talk with them.  What they said made sense.  Their promises were ones I wanted to hear.  Their sales pitch was one I wanted to believe.  But what made an impact was how they made me feel.  I felt it in my heart.  The spirit spoke to me.  This was my answer.  GeneDx would deliver my answer.  I fasted and prayed for our insurance company to approve testing.  They didn't.  But when one door closes, another one often opens.  When God says, "No" it's often in preparation of a better plan.  THIS was my plan.  GeneDx takes on the responsibility of battling with the insurance companies.  They go after them, appeal after appeal, until they exhaust all options and appeals.  They have good success with the insurance companies.  In the case they can't get it covered, they often work with families through a very doable financial plan.  I gathered all the information I could, and I tried to contain my excitement until I could confirm that this plan was for real.

I later ran into the woman who put the symposium together, the one I met at the state capitol, and she asked me if I spoke with GeneDx.  I informed her I had.  She told me that was the whole reason she wanted me to come to the symposium.  They did her genetic testing for her son and found answers for an unbelievably low cost.  I felt that feeling again.  I was on the right path.

I later found out that amazing woman is the infamous Christina Might.  Her family's story is shared all over the internet.  Their impact is felt all over the world.  They are my heroes, and I met them.  Read about their story here in this famous blog written by Matt Might, "Hunting Down My Son's Killer".

I did some research at home.  I didn't want to be fooled, taken advantage of, or fall into a trap.  I asked other parents, I searched the internet, I talked to references.  It was legit.  GeneDx is for real.  And they follow through.  They keep their promises.  They are one of the very very few incredible and trustworthy companies/labs in this world.  And I found them.  I think we all know this was a clear answer to prayers.  God has got this.  He's got Little J.  He's got me.

I've been in touch with our local rep, and I've started the process for Whole Exome Sequencing. 

 That's right----- IT. IS. HAPPENING.  I chose to go forward with faith, and if we end up with $20,000 worth of costs, we'll figure it out.  This was right.  God told me it was right, and it will be okay.  I had a friend recently do a GoFundMe and we raised $1300 in a couple of weeks.  I put it in a savings account to use towards the costs we may encounter by moving forward.  It could also help put a dent in our medical bills.  But today, I received the best news I've heard in a long, long, long time.  In fact, I'm not sure I've ever heard news like this in my life.  IN MY LIFE.  The GeneDx rep called me today with the final details I need before taking the biggest step towards genetic testing.  He called to give me my out of pocket expense in case insurance doesn't pay out, which it often doesn't.  I wasn't prepared for his answer.  I almost wondered if I heard him right.  I broke down into tears, in the middle of a therapy appointment.  I wanted to drop to my knees.  GOD IS GOOD.  He is sooooo good.

I do not want to divulge exact financial details, since every one of their accounts is dealt with on a case by case basis.  But let me tell you, our prayers are answered.  They were heard and answered, and even our rep said someone upstairs must be watching out for us.  Our copay, in the case insurance does not pay out, is not an issue.  Not at all.

We are getting Whole Exome Sequencing for Jayson, me and Mike!!!  We are also getting Mitochondrial DNA testing for Jayson. 

This is for real.  In roughly 6 months, we may have answers.  We are taking the next step forward in our fight for answers.  It is really happening.  And I am so, very, very GRATEFUL.

So now we send off the application and doctor's note, the medical records, and 5 vials of blood- 2 for me, 2 for Mike and 1 for Jayson.  And then we wait.  I know something will come out of this.  There is only a 30% chance of answers, but I KNOW something good will come out of this.  We are on the right path and God is paving the way.  

For all of those who have prayed with us, cried with us, celebrated with us, fasted with us, and felt our struggle...

from the bottom of our hearts.

And stay tuned.  This journey is JUST getting started.

***For our friends who are still undiagnosed, PLEASE contact GeneDx as soon as possible.  I guarantee you won't regret it.  Contact me for more information***