You Win Some and You Lose Some- Some New Diagnoses and a Lack of Diagnosis

Anyone who knows me well knows that December is my favorite month of the year.  I love Christmas and absolutely everything about the holidays.  I wish I could contain the energy and feeling of Christmas in a bottle an use it to rejuvenate myself throughout the rest of the year.  The past couple of Decembers have not met my ideal fantasy.  Last December we were consumed by distress about the new information we received about Jayson's defective feeding tube and how it posed a risk on his life.  Then, it kinked, possibly resulting the the premature removal of the tube, increasing the risks.  When we resolved that problem, Jayson quit breathing in the car on our way home from the hospital.  There are certain days, emotions, and fear I will never forgot and I often relive the horror of that day.  Jayson spent the next 7 days inpatient at Primary Childrens, where we also celebrated his miraculous first birthday.  It was during this visit that we repeated Jayson's MRI to discover his most scary diagnosis yet:  Chiari I Malformation.  We set a date for a risky surgery, and prayed and hoped that this was the means to an end of his breathing spells.

PTSD is a strange thing.  Without consciously thinking of these types of incidences, memories of my exact feelings and fears return to haunt me in my dreams or punch me in my conscious face.  They sometimes make it difficult to function.  Often these feelings and fears return at the anniversary of particular events and it feels as though I am reliving these moments all over again.  I fear that maybe the nostalgia of a perfect Christmas-time have forever been tainted by the memories associated with it during one horrific year.

This year has been a dream compared to last, but unfortunately still a difficult time.  Jayson's appointments cycle every three months and we see many of his specialists during this time.  His appointments were all due in December.  These appointments are often full of highs and lows.  They were more composed of bad news at the beginning, and fortunately they are mostly composed of good news now.  But we are still discovering things about Jayson, all. the. time.  This months appointments were no exception.  We have new diagnoses, new fears, new information, and some discouraging facts.  Although I am determined to not let these things dampen my holiday spirit, it is happening.  I dream of sitting next to the fire, feet covered in a blanket, as I joyfully wrap our Christmas surprises.  Instead, I am sitting on my couch, computer on my lap with a melancholy face and tears in my eyes as I update my friends about all that has transpired this month.  I am hoping that once I put the facts and my feelings down on paper (or on a computer screen) I will be released from the grasp of my fear, frustration, and heartache.  It has worked before.

Two weeks ago we had our appointment with our ENT to check Jayson's ear tubes.  I really was not stressed about this appointment at all.  A hearing test accompanies these ear tube appointments, a test I was also not nervous about whereas Jayson often hears and responds at home.  In the hearing room, Jayson did well for a child his age.  He did not respond as frequently to the sounds on the left side, but the audiologist felt it was because the sounds were not engaging enough to motivate him to turn his head that direction.  The notes of past tests said that Jayson did not often tolerate the hearing test screening that required little things to be placed in his ears.  We agreed to give it a try.  The i-pad can motivate Jayson to do and tolerate just about anything.  He did great in his right ear, where they always begin.  I could visually see when he was hearing the sounds as he would jerk or turn his head.  The tester was placed in his left ear, where he tends to be a little less tolerant.  He returned his attention to his i-pad.  I waited to see his responses.  Nothing.  I saw the audiologist take out the little earphone and test it herself to ensure it was working appropriately, and she placed it back in.  I knew this was a bad sign.  Again, no visual response.  She stuttered as she told me that Jayson completely failed in his left ear.  His ear had no response to the sounds.  But she informed me that with children they are not always accurate.  Kids can be wiggly, blah blah blah.  I knew different.  Jayson was very still and very tolerant.  She mentioned that he had passed his tests in the past so that was a good sign.  I remembered the past two tests.  They tried in his right ear first, and he hated it.  He would not tolerate it in his left ear whatsoever so both times they decided to call it a "pass" due to his inability to comply with the test.  Jayson's left inner ear is formed different.  The ear drum is almost sideways.  I was not surprised to learn that he lacks the ability to hear in his left ear.  The audiologist informed me that Jayson needs an ABR test that can only be done under anesthesia.  It tests the connection from his ear drum to his brain to see where the problem lies and how much of his hearing is affected.  It will also let us know if he is a candidate for a hearing aid in his left ear.  Wow.  That was a lot to take in.

Monday of this week, we had three appointments in one day.  Three.  Fortunately, they were all at the same location.  Due to one doctor running late, another running early and one on-time, they all decided to meet in the same room with us at the same time.  It was nice to have more of a conference feel and get everyone's input at once for a change, although it lacked the personal chatter and connection I usually get with each doctor.  I mostly brought up my concern about Jayson's sleep.  He was once a wonderful sleeper who would sleep 12 hours each night.  Lately his sleep is often disturbed by hundreds of spasms and jerks during the night.  And once they awaken him, he is hyper for hours.  He is even starting to refuse naps and going to bed in general.  For the first time the doctors brought up the possibility of Restless Leg Syndrome which is also tied to Periodic Limb Movement Disorder.  They said it explains the frequent movement and spasms of his limbs which also lead to myoclonic jerks.  They said we would know by a simple blood test to check his ferritin and iron levels.  We also noticed he was not getting enough fluids, which could also trigger these events.  So we are giving a bolus of pedialyte every night now.  While ordering this blood test, they agreed to also check his general blood count, his thyroid, and his hemoglobin-- all tests we discussed in our genetics appointment.  I had not yet heard back from Dr. V, our geneticist, with a plan.  We also discussed Jayson's microcephaly (small head).  He is currently in the 4th percentile.  Whereas he has been meeting his milestones like crazy lately, they are not concerned.  We plan to repeat an MRI when he turns three to check everything, including his myelin which should be complete at that time.  Overall, it was a good visit although for some reason I did not walk away with warm fuzzies as I sometimes do, especially after meeting with our Special Care doctor.  I noticed a different attitude among the doctors now that Jayson is doing so well.  He is less of a priority.  Which is good, but it will take me some time to overcome some of my fears and release some of the attachment I have formed with these doctors.  The wonderful (and somewhat anxiety-causing) news is that all of the doctors felt that Jayson only needs follow-ups every 6 months instead of every 3!!  Less appointments for us!  But again, imagine the anxiety and questions that will build over six months in between appointments!!!

Tuesday we had our well-check with our pediatrician.  We love our pediatrician so everything was great.  Jayson is about in the 75th percentile in his height, the 50th percentile in his weight, and again in the 4th with his head circumference.  I asked our pediatrician to check for the lab results in his computer system from the previous day.  Sure enough, they were there.  Jayson's ferritin levels were at a 9.  "Normal" for his age is 7-140.  Quite the range, right?  So his were on the very low end of "normal".  Our pediatrician said he could clearly diagnose Jayson with Restless Leg Syndrome and we were prescribed an iron supplement to place in each of his tube feeds.  Not a fun diagnosis.  I hear RLS is the worst and my heart aches to think of my baby being so uncomfortable every night.  But, I was hopeful to hear that after months of iron supplements, things could improve.  He said that Jayson's blood count and thyroid were great, as well as his hemoglobin.  However, he could only see the results for the Hemoglobin B test, and not the A.  The Hemoglobin A test would be the one that would either confirm or deny our leading genetic syndrome: Alpha Thalassaemia Mental Retardation- X Linked.  It seemed that maybe the doctors ordered the wrong test the previous day.  I could only hope that our geneticist would finally send the letter he promised with our plan and when to come in for our blood tests.

Wednesday I saw my own neurologist and revisited my conditions: chronic migraines, hemiplegic migraines, and occipital neuralgia.  We had a great visit and good plan of care.  I also learned at this time that my neurologist believes that I also have been having seizures.  Specifically, two or three episodes in the past 5 years are believe to be seizures and not migraines.  It seems I will also be having an EEG in the future.  Wednesday afternoon we had a therapy appointment with our favorite therapist, an OT.  However, the appointment went really poorly.  Although not part of her job, she questioned my desire to have a speech therapist work with Jayson.  Jayson is two years old and does not say a single word.  I have taken videos of some words he says, but he forgets them the next day.  He is also incapable of pointing, selecting or communicating in any way.  He is not retaining signs either.  His biggest delay is in speech and my doctors and specialists have told me to get him speech therapy.  However, our Early Intervention provider has been giving me a slew of reasons why he doesn't need it, doesn't qualify, already gets it, etc.  The conversation turned very awkward very quickly, and I felt that I was having to advocate and defend my child to someone I thought knew him and cared for him and our family.  Jayson, likely due to the anxiety in the atmosphere, performed very poorly in therapy which led to our therapist once again questioning his ability to work with a walker.  When I told her that he has walked 23 steps on his own it was clear that she didn't believe me.  When she left I felt overcome with a heavy heart from the exhausting events of the week.

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.  He wasn't even willing to run the little minor blood tests we discussed in the appointment.  I felt out of control and helpless upon reading this letter.  I felt like all of my hopes and dreams had carelessly be released out the window.  I did something I don't know that I have ever done.  I grabbed my coat, threw on my boots, and I went running.  I didn't know what else to do.  I had so much frustration, anger, fear and resentment locked in side of me I felt I might explode.  If I could somehow release it in a healthy manner, I might feel better.  I ran and I walked.  And I probably looked like the creeper in the neighborhood as I walked up and down each dead end street and cul-de-sac kicking ice and snow and trying to organize my thoughts.  I finally returned home, hoping that my frustration and thoughts wouldn't exit my mouth.  But they did.  I ranted and raved, and paced and cried.  "Bastard."  The only word I could utter.  I hoped I would feel better in the morning.  but I didn't.

I got a call this morning from our Special Care doctor's nurse to go over the blood test results.  She told me that Jayson really wasn't in need of iron and that we could give him some if we wanted since he was on the low end.  She didn't think he had Restless Leg Syndrome.  Awesome.  Once again, conflicting information.  Whatever.  She said that all of his blood test results were normal, which I already knew since we discussed it with our pediatrician.  However, I asked her about the hemoglobin test and how our pediatrician only saw the results for type B, and we need the type A test to confirm or deny Alpha Thalassaemia Mental Retardation, X-linked syndrome.  She said that perhaps our pediatrician didn't scroll far enough to see the results.  They were NORMAL.  That should be great news.  That should be wonderful news that my child doesn't have a life altering syndrome.  But it wasn't.  I wanted that to be it.  I wanted to know what he had.  Even if it meant life-long challenges, I wanted to know SOMETHING about what to expect.  I am crazy.  I am messed up.  Why would I hope that my child has a challenging syndrome all for the sake of a diagnosis, of a name????  I don't know.  But that's where my head is at, and it's totally messed up.

Although crazy in the head, I have tried to sort out my thoughts and feelings.  The night we received the letter from the geneticist, I struggled to sleep (shocking, right?).  I decided to try and focus on the positives.  I know why I want an answer and diagnosis so badly:  I want a prognosis; I want to know how long I have to be with my baby on this earth.  I want to know what to expect.  I want to make sure we're keeping an eye on everything we should.  I don't want to miss anything.  I want hope that maybe some things will get better, or continue to improve.  I want something specific to research and focus on.  I want a "group" to where we belong and get support.  I want to know before we make the decision to have more children, and what the odds are that they will be affected.  That's what I want.  But that's not what I'm getting at this time.  I can let all of those desires with the associated fears of not receiving them consume my life, or I can focus on the blessings of NOT knowing.  I'm trying to be positive.  Here are my new points of focus:

• No one knows how long Jayson will live.  He will be with me as long as he can and wants to.  And then after that, he will be with me forever.  I don't have to live with that type of heartache of knowing my child is only going to live to be X years old.  I don't.  I'm free from that pain, and all that I know right now is that my baby is my baby forever.
• No one knows what Jayson can and cannot accomplish.  We are no longer being told "he will never walk" "he will never talk" "he will never eat" "he will never fill-in-the-blank".  He is defying odds right and left, and we have no diagnosis to tell us what he will and will not be capable of.  So for now, the sky is the limit!  Jayson will do everything he intends to do.
• No one is denying Jayson support and services because of what he will not be able to do.  Since we don't know his limitations, we are getting support to work on all of his skills.  If we were to know that he would never talk, it would be unlikely we would receive therapy and support to help him talk.  Jayson is completely malleable and responds to any and all support he gets.
• I have hope.  There is so much hope.  There is fear in the unknown, but there is also a lot of hope.  I see miracles every day, and I know that I will continue to see more.  I don't have to deal with a diagnosis right now that might destroy that hope and limit my ability to focus on the miracles.  Jayson deserves to live in a home filled with hope.
• Jayson is not defined by what he has.  He is just Jayson.  He has an unknown genetic syndrome.  It doesn't have a name and he doesn't fit in a category.  He is just Jayson, and there is no one else like him.
• What does it matter?  What would it change if we had a diagnosis?  Probably not much.  It would fill my curiosity, but it would also likely bring me a lot of sorrow and pain.  Perhaps the lack of diagnosis is what Mike and I need to stay positive and hopeful.  We would not let a diagnosis change the love we feel for Jayson, so we will not let a lack of diagnosis change how we feel either.

So that's where we are.  There has been a lot lately to take in and process.  And it really has put a damper on my chipper holiday spirit.  I am hoping that now that this week is over, the medical phone calls will stop over the next two weeks and we can focus on just being a family.  I want to focus on the magic of the season and be completely absorbed in my little boy and his thrilling accomplishments.  And that's what I intend to do.

As always {friends and family} thank you for your endless prayers, thoughts and support.