A Great Quote from Facebook

Read a great quote today on Facebook: 
  

Isn't that good?  I thought it was just too good to not remember and share with all of you.  Thanks my friend, Leslie Hollingsworth Reynolds, for sharing this beautiful thought with me!

I hope you're having a wonderful Sabbath.  I'm home today taking care of a sick little Deborah.

The Nitty Gritty of the Test Results

We met with the Metabolic Geneticist regarding Ryan's test results and what to do next.  I think I've already mentioned to you that he is a walking database of pure genius.  I brought all of his notes and drawings home with me so that hopefully I can relay at least most of what he taught me.  I'm sure I'll miss some of it.

Talking with him is like attending a 400 level college class about a subject that you're really, really interested in learning everything about when you're really only ready for the 100 level class.  I want desperately to grasp everything he says.  I study before I go and prepare for the appointment.  I ask good questions, take good notes, and still I leave wishing I understood more.  I guess I just wish I could spend more time being taught by him.

Anyway ... let's get to the nitty gritty.

So, you probably already know that Ryan was tested for all kinds of things because he had lost a bunch of his skills.  Most of them came back negative.  However, at the end of November, the DNA test for Niemann-Pick Disease Type C found  him to be positive for 1 gene mutation.  "At least a heterozygote for NPC."  There needs to be 2 gene mutations to be diagnosed with the disease.  The 2nd gene mutation was "questionable."

Interesting to me, maybe to some of you all also, maybe meaningless to the medical team though, was that there were variants of unknown significance on his DNA diagnostic testing.  Seven (to be exact) were listed.  Since most of you probably won't have a need to see DNA testing, they list the Nucleotide Change, the Amino Acid Change, the Location, the Lygosity, and then a Reference(s)/Comment(s).  Kind of cool, right?  It's amazing what all they can tell about a person's body now.  This is off the current test results topic, but I will want to discuss this with the doc at the next appointment.  It should be a good lesson.  I can only imagine how much I will learn.

Anyway ... back to the topic... so from that test we knew for sure that Ryan had 1 gene mutation for NPC and a questionable 2nd.  So, it was recommended that we do "biochemical testing."

The biochemical testing consisted of a skin biopsy, which we did in early December.  With the skin biopsy they are then able to grow the cells (fibroblasts) in the lab and look at their ability to transport and store cholesterol.

So, here's where it gets interesting again ... and confusing ...

The transport of cholesterol in the cells is studied by measuring conversion of the cholesterol from one form to another ("esterification").  If we were to look at only this test result, we are back to a POSITIVE test result.   However, the storage of cholesterol is assessed by staining the cells with a chemical ("filipin") that glows under ultraviolet light. This can show whether the cholesterol is being stored inappropriately in lysosomes, the recycling centers of the cell. The filipin staining was NEGATIVE.

So we have 1 + gene mutation, 1 ?? mutation.  1 negative test result and 1 positive test result.  What does that equal?  Well, it does not = Niemann-Pick Type C Disease.

This is where we get to the real nitty gritty stuff...

Instead the doctor says we then have to go back in the process to say, what affects cholesterol uptake?  Why would his be so low if he doesn't have NPC?  There could be Mitochondrial Issues.  There could be Copper Metabolism issues.  There could also be several other issues that "we don't even have human models for yet."

So what does that mean?

Well, first let me say, I'm surprised you're still reading this ... Mitochondrial ... and Copper ... both of these require that we do a muscle biopsy.  We're doing that in less than 8 hours.  So, check.  If the muscle biopsy points us in the direction of Copper, then we may have to do a liver biopsy.  Yuck.  But, we'll deal with that if and when, not tonight.  As for the other issues that "we don't even have human models for yet,"  he's going to research them.  They do have "animal models" for some of the issues.  I guess we'll learn more about those things if we need to.  Maybe some day there will be a mother blogging about her child being diagnosed with the RyMann Syndrome. Has a nice ring, right?  Hmmm... not a bad thing as long as we find a cure, too.

The muscle biopsy will be done tomorrow.  Information from it will come back in stages, but all of the information should be back in 4 weeks.  I'm off to get some sleep now.  I just wanted to share all of this before I forgot it all.

PS   If any of my doctor friends are reading this and I made any mistakes, please feel free to correct me.  ;)

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. 

But...

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.

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.

Humbling

Recently I received a phone call from a friend that was humbling.  It was a good reminder of why I should be vigilant in fighting discouragement, always observant of the tender mercies which are bountiful in my life, and always grateful for the challenges which are mine.

The phone call was not intended to be humbling.  It was simply one friend sharing life's experiences, tough experiences.  I am grateful for friends who still call and openly share with me, even when they say stuff like "Well, it doesn't really compare to what you're going through."

  ...

Just so you know, I'm not comparing.  I hope you're not either.  ;)

Purchasing Anxiety

Do you ever find yourself shopping only to realize that you're actually shopping for the right size, not the right look or the right fit?  Perhaps it's just my old demons, maybe not everyone battles this in a dressing room.  I hope they don't.  I hope you don't.

Monday night while I was driving home from Austin I thought I'd check out the Outlets.  I thought a really good deal was just what I needed to lift my mood.  Plus, I received a generous Gift Card to one of my favorite stores, Banana Republic and I can usually count on finding something there to lift my spirits.

Just as I expected, BR had lots of great clothes!  I was hoping to find some tops, but I mostly found pants.  Ryan patiently looked around while I gathered an entire armful of things to try.  When we finally made our way back to the dressing room, I tried on more than a dozen pairs of pants and felt like a two-ton Betsy in each pair. Crazy.  I've gained 1 pound.  That's still significantly less than I weighed a year ago.  So, why is the mirror reflecting back this HUGE image?

I struggled with all the numbers ... the pant sizes, the current weight, the past weight, the weight gain, the weight loss ... and eventually had to tell myself that 1 pound weight gain could not make me a two-ton Betsy.  As I stood in the mirror, trying to make myself realize that I wasn't making any sense, I realized that I was shopping for a size.  And, even more significantly, I was hurting.

Scrum.  I am hurting.

We met with the Pediatric Surgeon on Monday to discuss the planned muscle biopsy.  They want to do a muscle biopsy to determine if Ryan has Mitochondrial Disease.  I wish I had taken the drawing off the table so I could scan the image for you.  I have it seared in my head.  It seems so large compared to his tiny little legs.

To test for Mitochondrial Disease they need two square half-inch sections of his muscle.  They will remove it from his right muscle.  It will be an outpatient surgery and it requires general anesthesia.  Because the Surgeon heard a "pause" in Ryan's heart, she has requested a clearance from his Cardiologist before the surgery, and also wants us to meet with the Anesthesiologist before the day of the Surgery, just to be safe.

This is a really invasive procedure and the muscle will not regenerate.  I don't like the idea of him having Mitochondrial Disease, but it wouldn't be any better or worse than him having Niemann Pick Type C.  (Yet, what they're testing for is to see if he has both NPC and Mitochondrial Disease.)

When we first talked about all these tests, the Metabolic Geneticist had said that if we got a positive test on one, then we wouldn't do this test.  However, when the first NPC test came back positive, he said to go ahead and meet with the surgeon for a consult regarding this one.  So, after our consult, I called him to say, "We've met and we've scheduled the surgery.  Do you still want me to go ahead?"  His answer was a firm yes.

I'm holding out hope that it will change once we have the final test results for the Niemann Pick C.

Speaking of the test results for Niemann Pick, we received word from the Mayo Clinic yesterday that as of yesterday afternoon, the test is not finished.  They anticipate it will be finished by this Friday.  I'll be sure to let you all know as soon as I hear results.

As always, I appreciate your prayers, love, and friendship.  Perhaps more than words can ever express.


PS  Speaking of prayer, there's a great video I watched this morning on Prayer, here's a great video I watched this morning:

5 Weeks

It has been 5 weeks since Ryan's skin biopsy and the test results are not back in from Mayo Clinic.  They should be back anytime now.

We are meeting with a Pediatric Surgeon today to discuss a muscle biopsy.  The muscle biopsy will test for mitochondrial disease.  We had discussed perhaps not doing the biopsy since he had a positive test result; however, when I spoke with Dr. Gibson's nurse on Friday, she said he still wants the muscle biopsy. 

I will schedule the biopsy today; however, I'll confirm with Dr. Gibson again before we actually do the biopsy.  Hopefully, we'll get the NPC results soon.

Les Mis

David, Jessica and I went to see Les Miserables tonight.  It was great! except for one scene, which I wish they would make more family friendly.  Perhaps I'm old fashioned, but I would not go see such a scene on the big screen and if I had known ... or remembered it being choreographed in such a graphic way, I would not have gone to see it at the Theater either.  I just don't think it's necessary.   I was embarrassed to be there, and even more embarrassed to have my children there.  Shame on a theater for rating it as a family friendly show.  It was not family friendly.

Goofy Munchkins

On school days, Johnathon and Deborah like to take Ryan out to meet his bus for school.  This morning was a typical school day.  EXCEPT that when we went outside I look down to see this: 

I should also mention that her t-shirt was on backwards, and she had on some funny pants, and pool sandals.  She was quite the site.  The glasses are 3-D movie glasses which have had the lenses removed. 

 I think the bus drivers at least got a good smile and chuckle for the day.  :)  I know I did. 

Happy New Year

 Well, no one here can hold still even long enough for a quick picture.  But, hope you all have a happy new year!

Going to ...

When I was saying prayers with Deborah tonight she said, "Mommy, can you not go to cancer any more?  I don't like it when you go there.  It takes too much time.  I don't get to see you very much when you go to cancer."

At first I thought maybe she was talking about when I go to MD Anderson for my checkups, but as I talked to her for a few more minutes it became apparent that she was talking about the time period when I was first diagnosed and treated for Cancer.

I too hope I don't "go to Cancer" anymore, Deborah.

Christmas

Remember when you were a child and it seemed like Christmas would never come? 

Christmas at my childhood home was magical.  I grew up in the wintery wonderland of Indiana where it seemed we always had the perfect white Christmas.  Even more awe inspiring was my parent's ability to weave the true meaning of Christmas and the childhood fantasy of Santa Claus into the everyday moments of the whole season.

I love thinking back to the anticipation I felt of wondering what I would find in the stocking each day.  I no longer recall whether a new present would arrive in the stocking every day, or just on random days.  I only remember that they were there.  Stockings hung with great care and tiny presents anonymously delivered.

One of my favorite memories was one of service.  I don't remember all the details.  I just remember that another family had lost their home.  My parents, having experienced the same before, gave us the opportunity to pick a gift to give to the family.  One of our gifts.  We didn't go to a store to buy something for the family. We went to our tree and picked a wrap present.  It was a sacrifice that was personal.  I didn't feel a loss.  I felt thankful to share.

Years later I am thankful to my parents for the magical Christmas memories.  I am thankful for the years of waking up to the sounds of Santa's reindeers and a house full of Christmas lights at the break of dawn on Christmas morning.  I am thankful for all the nights we drove around looking at lights throughout the city.  I am thankful for all the beautiful reminders of Christmas in every corner of every room of my childhood home.  Most of all, I am thankful for the example of Christlike service that I saw and continue to see in the lives of my parents.  It is the Spirit of Christmas.  I pray the spirit of Christmas will permeate in our lives.

Where Can I Turn For Peace?

I recently found this sketch by Jessica titled "Where Can I Turn For Peace?"  She apparently sketched it while sitting in a class at EFY this past summer.  Isn't it amazing?  I hope she finishes it.

Legendary Holidays

  One of our favorite holiday traditions here in San Antonio is Westin's Legendary Holidays.  We discovered it a few years ago and every year since several of the kids insist on going again.  

I'm so glad that at least some of the kids enjoy it because I love it! 

 

 This year we actually went on two different nights.  The first night I was mistaken about the time and so we missed the walk with the story teller.  Instead of just leaving right away, we visited with Santa, decorated gingerbread cookies, and made some wooden creations.

I'm so thankful that my kids are so patient with me and such great sports about things.  Even though things didn't work out the way we expected them to, we still had a great time!  Maybe even more fun than we would have had if things had happened as planned.  The best part:  we went back the next night for all the events!

Inside they have beautiful decorations that make for amazing pictures, like this one.

 At the beginning of the walk, they hand out bells and the children love the bells.

At one of the spots where along the trail, all the children gather up on the rocks and the story teller tells about the legendary snow fall.  Then he says, if we all believe there will be snow that evening.  Then the children walk toward the building and sure enough, there's a Texas snow fall. 

I won't spoil the surprise for you, but my children love the Texas snow fall!

After all the fun, there's hot chocolate and cookies to enjoy while we warm up by the fire

... and rest!

...

The Inevitable Question

It happens with every kid & tonight it was Deborah's turn: 

"Mommy, why are all the other mommies bigger than you?"  :)

Gingerbread House Time

Today was the day.  We built the annual gingerbread house and I let Deborah and Johnathon take the lead.  I figured it couldn't go too bad, right?  Afterall, I bought a kit.  Actually, I bought 5 kits.  Target had them on clearance and Deborah was so cute.  (Dwight says I must have been feeling guilt about something.  A story for another day, perhaps?)

All was going well and Jessica and David were kind of helping them along.  THEN, one of the gingerbread men had an "accident" ... and it all went downhill from there.

I don't know what happened, but Deborah announced that the gingerbread man had "fallen to his bloody death."  Oh, boy.

Soon after that, there was another bloody mishap at the gingerbread house.

When I asked Deborah why all the bloodshed, she said, "You said we probably wouldn't be able to make it look just like the box."

 

 Hmmmm.... I don't think THAT'S exactly what I intended for her to take from my statement.

While the rest of the kids made the gingerbread house, Ryan rested peacefully, he's not feeling very well this week.  But, the good news is that he hasn't had a seizure since the 13th.  FIVE full days of being seizure free!  Whewhoo!

 And, finally, this week at work, we had our Christmas party and did a gift exchange.  My Secret Santa gave me the most beautiful gift!  And, in it were the most wonderful pajamas and socks.  I think I'd like to live in these pajamas all the time!  The pants are SOOO soft and the socks are super soft and cozy. Thanks, DJ!  You are awesome!!

Santa came early to our house!

What a fun night! Some kind Santa dropped off a beautiful bag of gifts at our door tonight.  It was so fun to watch the kids pull the gifts out of the bag and place them under the tree.  :)  It was a very thoughtful act and very much appreciated.  The children were SOOO excited.  It's fun to see even the teenagers be excited about things. 

Whoever you are ... thank you!! 

Just thinking about....

I was just thinking about when we were last in the hospital.  A nursing student came into meet Ryan.  She was from another country.  After she finished her exam of Ryan, she asked me if I believed in God.  I told her that I did.  She then testified to me of her faith that God could help sustain us and lift our burdens.  She then asked if she could offer a prayer for Ryan.  I, of course, gratefully accepted.  It was a beautiful prayer.


She and I did not belong to the same church, but we both believe in Jesus as a Savior and as our personal Redeemer.  We both believe that He can heal our hurts and we both believe in the power of prayer. 

I am grateful to this woman that she was willing to share her faith with me and Ryan.  It brightened my day that day, and again today.  It reminded me of truths that I know. I hope it does the same for you today.  

A Very Foggy Morning

Doesn't it seem like the perfect day to curl up on the couch with a snugly child and a cup of a hot chocolate and a few good books?