Biopsy Results

The results from Ryan's latest biopsy are back.  You may remember that they took 2 small chunks of muscle from his right thigh at the end of January.  The results are back.  There was low mitochondrial activity, but nothing diagnostically significant.  Therefore, he is negative for Mitochondrial Disease.  Some of the test results are still out, such as the copper results. 

We have an appointment with the Metabolic Geneticist next week where we will discuss the test results in more detail and what to do next.  I'll be sure to keep you posted. 

Happy Valentine's Day

Ryan made this heart for me.  He glued all the little hearts on it himself.  He uses a paintbrush to put the glue on and then his teachers and/or Nelda helped him to pick up and move the little hearts on to the big heart.  It made my heart swell!  It took a lot of work for my Ryan to do this for me!  I'm the most blessed Mom!

Valentine's Day Cookie Party

We had a great time at the Dunn's Annual Cookie Party today! 

Jessica's Vase Art Competition

This is Jessica's Vase Art piece for this year's competition.  

She has studied a lot this year about the Holocaust and 

felt inspired to do a tribute piece. She received an award for her work.

Holy Socks

Today I came home and while I was talking to Deborah I noticed that she had on her favorite lacy socks.  The ones I bought her just about 2 months ago.  But they looked a little different today.  Not only were they dirty, but the toes looked really different.  This is what I saw ...
 

Maybe it's not immediately obvious to you, and maybe, like me, you need a closer look. 

Maybe your response is:  What is that on the toe?  That was my response.  If you guessed, clear tape, you're right.

Of course, being a Mom my first question to Deborah, was "What happened to your socks?"   Understanding the importance of honesty, she simply said, "I don't want to tell you."  I said, "Well, you're going to need to tell me cause I can see that something happened to your socks." 

I admired her honesty and her bravery.  I'm pretty sure if I had been her, I would have just hid the socks, or thrown them away. 

I patiently waited for her to feel brave enough to tell me.  As the evening passed, she kept the socks on.  One sock with tape covering her toes, and the other sock with bare toes.  

Later when we talked, I asked her again if she was ready to tell me what happened.  She said, "No, Momma, I don't want you to send me away."  It broke my heart that she would think that because of her socks she might be sent away.  So, I put her on my lap and we talked.  I explained to her why sometimes people have to leave to get help, but that most things Moms & Dads and Heavenly Father can just forgive us for doing them.  It was a tender teaching moment.

Eventually, she told me that she cut the socks and in an effort to put them back together, she taped them.  It didn't work like she thought it would. 

I admired and appreciated her bravery in keeping those socks on all day and in talking to me about it, especially since she was fearful that I was going to send her away.  I love this little lady and am so thankful that God trusted her to me!

My Beautiful Lady

Jessica had her hair done today. 

Doesn't she look absolutely beautiful?

Now, I think I want more red in my hair.  What do you think? 

PS  If you're in San Antonio and you're looking for a GREAT place to get your hair done, check out Emali Lane, particularly Emali.  She's the very best and super fun!

A Conservative Mom Freaks Out

What would you think if you were a conservative Mom and you saw your teenage daughter's hairstylist putting this color on her hair?

Really?  We had agreed on nothing too extreme, right?  We had agreed.  I know we had agreed.  The three of us.

Hmmm?  Perhaps trusting isn't my strong suit. 

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.

David and his Fez

David and Dwight took a trip to DisneyWorld this week.  It was a combination of David saving his money (again) and his one wish for Christmas.  They are having a wonderful time!  Last year when David, Jessica, and I went David picked a fun hat with an Asian theme.  This time, he picked another hat. 

I'm thankful for such a great kid!  He's fun and obviously has a great sense of humor and a great sense of self!  I'm a lucky Mom!

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.

Getting Old

Did you assume from the title I was talking about me?  Geesh ... of course, not.  haha.  No, my van.  :)  I looked down this morning and noticed that my van now has 71,717 miles.  It made me smile! 

I know it won't be long until we have to part with this van and get a wheelchair enabled van, but for now this van sure has been very good to us.  The best part is that it's paid off.  That's my favorite part, and the mobility vans are super expensive ... not my favorite part.  I guess it'll be worth the trade off of not having to lift Ryan's wheelchair in and out of the van.  :)

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!