Thursday, January 19, 2012

What's Next

Monday we'll be meeting with the Metabolic Geneticist to go over the test results and figure out what they mean.  It's very uncommon for a carrier of Niemann Pick to be symptomatic and yet Ryan is very symptomatic of Niemann Pick.  We also need to figure out if the other children need to be tested to determine if they are carriers of the disease.  Could there be other mutations?  Could there have been issues with the test sample?  Could it have been an issue with the fact that it was done during the holidays?  Lots of questions.

We will also be meeting with doing another surgery consultation but this time with the Anesthesiologist.  The surgeon heard a "pause" in his heartbeat when we met with her.  So, she wants a clearance from his Cardiologist and she wants us to meet with the Anesthesiologist before the day of his Muscle Biopsy surgery, which is scheduled for Wednesday morning. 

The Muscle Biopsy is being done as a diagnostic test to determine if he has Mitochondrial Disease.  If you're curious as to what Mitochondrial Disease is, you can click here and it will take you to the United Mitochondrial Disease Foundation's website where they describe what it is. 

I'm not thrilled about doing the muscle biopsy because it is invasive.  However, there are things we could do for Ryan, if it is Mitochondrial Disease that would help him.  Therefore, we think it is best to test for it.  We've had this test on the list for a while and have left it at the bottom of the stack because we didn't want to remove muscle from his leg if we could avoid it.  It seems we're now at the point where it's the next logical step.

So... I'll let you know how the appointment goes on Monday.  I'm sure I'll learn lots from the Dr.  He's like a walking database of information and he's great at sharing it.  I always feel like I learn so much from him.  Hopefully, I can understand it well enough to share it with you when I get home.  I'll keep you posted.

Today we're off to the ENT for a follow up, the Audiologist for a follow up on his hearing aids, and the therapists for a good workout.

The Results Are In...

The results are in and they are surprising!  Ryan tested positive as a carrier for Niemann Pick Disease Type C, but tested NEGATIVE for the disease.  A carrier shouldn't be symptomatic. So the results are shocking.

So, how do I feel?

Surprised.  Relieved.  Disappointed.  Happy.  Confused.  Hopeful.  Exhausted.  Thankful. 

Have you ever had an undiagnosed condition?  Went to the doctors ... or to multiple doctors only to be told they don't know what it is, or they can't find anything wrong with you?  If so, you might understand those feelings.

I lived with severe fatigue and was in pain from about 2002 until sometime in 2010.  I spent the first few years trying to explain to doctors the pain and the fatigue only to be told they couldn't find anything wrong.  It was a hard experience and eventually I chose to learn to live with it.  Thankfully, the source of the pain was eventually discovered and I am now pain free.  (Whewhoo!)

I remember with great clarity the first day after years of pain that I walked up the stairs and didn't have pain.  It was amazing.  I remember the first time I went for a walk around the neighborhood with my kids and didn't come home feeling absolutely exhausted.  I also remember the first I went to church and didn't come home feeling like I needed to go to bed for a week to recover from the 3-hour block of sitting up.  It felt like I was alive again!  I wanted to celebrate!

So, now I long for a diagnosis for Ryan.  I don't know if he ever has pain. I don't know how long he'll live.  I don't know what to expect from his condition.

I know none of us know what the road will bring or how long we'll have our children, but we have some ideas.  When we have a newborn baby that is healthy we can anticipate when they will walk.  We can anticipate when they will talk.  We can anticipate when they will start eating solid foods. We can anticipate seeing them grow up to be adults.

There is a part of me that hopes for a diagnosis that says we will be able to treat his condition.  Then we might be able to anticipate that he can walk, or talk, or eat by mouth again.

And, there is a part of me that fears that I won't be prepared for losing him and that hopes that with a prognosis I'll know what to expect.  Maybe I'll be able to see the signs and then with those signs I'll be able to steel myself and my family. 


I am thankful.  Thankful that this is not his diagnosis.  His prognosis would not be good with this diagnosis and no diagnosis is better than a poor prognosis.  I continue to be thankful for the amazing doctors (and their families) who have sacrificed so much in the pursuit of their educations.  I appreciate their friendships, their kindness, and their great intelligences.  They all amaze me!  And, as always, I am so thankful for all of you, my amazing friends and family.  I am so blessed.  Thank you for letting me share so honestly with all of you.

Monday, January 16, 2012

Still Waiting...

I tried calling for Ryan's test results today, but nothing.  No answer.  The offices were closed today. So maybe tomorrow.

We did have a good meeting with his Developmental Pediatrician.  We reviewed all of his appointments over the past six months.  We discussed his regressions, his progresses, his therapies, his needs, etc.  Then came up with a plan of action.  Basically, the Developmental Pediatrician will get Speech Therapy going again for us so that we can work on communication skills more.  (We had discontinued Speech Therapy due to the diskinetic movements.)  He will also get us in touch with someone who can show us various models of Special Needs Car Seats.  We will talk about when we want to make the switch to a Special Needs Car Seat.  We don't have to do it right now, but we won't be able to put it off much longer.  The disadvantage to doing it is that it has to be installed into the chassis of the car -- not necessarily ideal for a minivan that's already 6 years old.  We will also follow up getting the test results copied to his office. 

That's it.  It's been a long day and I didn't get as much accomplished as I would have liked to have done today.  But, I did play Uno tonight with David and Jessica.  I beat Jessica, but David ... well, he massacred Jessica and I.  Johnathon had a great play date today.  And, Deborah and I had fun playing this morning.  So, overall I suppose we did the important things. 

I hope the results will be in tomorrow.