Admit Defeat?

It's been a while since I've updated, but things are going quite well.  Here is a quick update:

• Jayson's MRI came back clean!  Things are still tight in his cerebellum, but another decompression surgery would not help.  His myelin and brain development is right on!  Wonderful news!!  But also frustrating.  No explanation for his physical and cognitive delays.
• Jayse has had a very healthy winter!  He got 6 months worth of synagis shots to boost his immunity against RSV.  We lived like recluses and it paid off!
• We have started getting out and enjoying the warm weather and the company of friends and family!
• Jayson has made some great progress in the area of oral feeds and bringing his hands to midline.  He is now playing with his hands together, in midline, all day long!
• Little J is still working hard on walking and is able to sometimes take one step on his own, when highly motivated!
• Jayson had a surgery and some procedures this spring and did really well!  We discovered he has partial hearing loss in his right ear and we, as his parents, must decide if we want to pursue a hearing aide in that ear or wait and see if his hearing improves with time.

Today my heart is heavy.  Some days are like that.  But today I woke up determined to do something about it.  We received a letter in December from our geneticist telling us that despite what he told us in clinic, he did not see any further testing necessary at this time.  He also implied that I lied about seeing our previous geneticist because there was no record of it.  Our previous geneticist had a premature stroke and is learning to eat, speak and walk all over again!  They lost her records and are unable to recover them, so they have no proof that we saw her three times, and that she visited us inpatient 4-5 times.  In clinic the geneticist told me some of the syndromes I brought to his attention were very good possibilities that could be ruled out with very simple, routine blood tests.  In his letter he said that "mom brought many syndromes up for discussion, while none of them seem likely or are worth pursuing."  He refused those simple blood tests.  I was crushed.  Hurt. Betrayed.  And defeated.  That feeling of defeat lasted for months.  I have done NOTHING to fight back.  I just didn't have the energy any more.  Until today.

Recently, a girl with very similar conditions to Jayson is getting partial diagnoses.  They are getting so close to knowing her genetic syndrome, and she is getting diagnoses that explain a lot of her problems.  They are also learning that her lifespan may be very short... less than five years.  I always have thought that this girl and Jayson have the same syndrome.  Something changed in me last night.  I got my fight back.  I decided I would spend today battling the geneticist and insurance companies and pursue more testing.

I fear I am back where I started.  I called my insurance company.  They will not cover any more genetic testing.  They don't cover the big tests searching for a diagnosis.  And the woman on the phone told me that even if I researched a condition and the geneticist and I felt he had it, they would likely not pay for the genetic test to confirm it.  Why?  It was her reasoning that stabbed me right in the heart, "It wouldn't change anything."  He already has nearly two dozen doctors, specialists and therapists.  He's already being followed closely, on many medications, receiving home health care, and being worked with in therapy.  "It wouldn't change anything."

Wow.

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.

If the diagnosis was discouraging, it would change everything:

• I would quit my job and spend 100% of my time with my son.  I would do whatever I had to in order to survive without my salary.
• We would do a Make a Wish trip.  We are already encouraged to do so, but we wouldn't wait.  In fact, we'd go and do as many things as possible in the short time we would have with our son.
• We would adopt a child... asap.  We are already looking into this option to expand our family, but it is very expensive and difficult.  We would sell our vehicles, do fundraisers, whatever we had to in order to give Jayson a sibling to share his short life with.  I would also need a second child to give me a reason to wake up every morning if my first were to pass away.
• We would be even more cautious than we already are.  We would keep Jayson completely clear from as many germs as possible.  We would have more checkups with his specialists and keep a closer eye on him than we already are.
• We would likely add another couple of doctors to our collection who would specialize in his life threatening conditions such as immunology, rheumatology, metabolics, etc.  These doctors may be able to give us more time with our boy.
• We would start saving money for funeral and burial costs, as we know what a financial burden these can be.
• We would be able to join specific support groups, raise awareness for his specific condition, and be able to have a better idea of what to expect.
• We would travel all over the US or world, if necessary, to find the best specialists who could give us even one more year with our child.
• We would be able to know what to look for, what to expect, how to best help Jayson in hopes of expanding his time here on earth.

If the diagnosis was encouraging, it would change everything:

• I wouldn't hold my breath every time he jerks, makes a strange noise, breathes weird, doesn't breath, flinches, reacts, doesn't react, etc.  I would know that everything will be okay.
• I could let my guard down.  I could let him be a child.  I may not have to protect him as much.  I may be able to let go of some doctor appointments and interventions.
• I would be able to let go of the fear I feel in my heart every single day... as I wonder just how long I might have with my boy on this earth.
• We would be able to join specific support groups, raise awareness for his specific diagnosis and feel like we belong.
• We would know which services he needs most-- hearing, speech, vision, OT, PT
• We would know what cognitive delays and learning disabilities to expect.
• We could focus on just being a family, like everyone else, instead of being so afraid all of the time.
• We would know whether or not we could expand our family with our own genes, or if we should pursue adoption.
• We would know the best timing to expand our family because we would know when Jayson would be expected (or if) to walk, talk, eat, etc.
• I would be a much happier person, inside and out.  Perhaps I could eventually get to the point of surviving without medication and therapy services myself.  I could feel like a normal mom... maybe.

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.