Thursday, March 28, 2013

What if I don't make the Cheer-leading squad?

This has not been a fun week at all.  I would say I wish it was over but then it would just be another week so I'm trying to just...Count it all JOY; my new mantra for the year.

I have been thinking about all the ways my life is different from the mom- next- door, figuratively speaking of course.  The 'mom-next-door' hears her daughter say, "What if I don't make the cheer-leading squad?" or from her son, "What if I don't make the baseball team?" ya know, the normal, day to day worries a teenager has.

I was gone yesterday from mid afternoon until later in the evening tending to a friend who had to be transported to the hospital via ambulance.  I had to wait there until someone from the family was able to get there.  When I got home, Sam had just gotten home from his gymnastics class and he was in rough shape.

Mitochondrial disease causes high lactate levels and all three of the kids have what is called Clonus. It's a neurological disease that starts in the brain but shows up in the lower limbs. When they flex their leg or their foot, the brain doesn't tell the muscle to contract properly so you end up with these jerking, spastic motions. Most people don't notice it on most days but they have these little muscle "seizures" that contract and tense their muscles about 5-7 per minute all day, every day.  

So, because Sam over did it at the gym, he was having one monster episode of clonus.  He could barely walk without his gait being jerky and terrifyingly visual.  I tried to get it on video but it I couldn't get a clear picture.  Of all the kids, he has the highest levels of lactate and it can be very serious.  I think probably his levels went up yesterday because of the exertion, but I'm not doctor and at 9:30 at night, I didn't have one at my disposal.  He was freaking out just a bit.  "Mom", he said,"What if I don't get better and can't walk normal again?"  You don't hear that everyday.

Then, Spencer came home shortly after Sam was resting and calm.  He had been at his friend's house where they had an alternative medicine guy up there working on their family.  He knows Spencer and was asking about his health.  Spencer explained the Cytomegalovirus and the fact that his white count has been really high.  Thanks to this guy, he told Spencer that it means his body is fighting a horrible infection and he's losing.
He also told him it could be leukemia.  Hey thanks mister...that was helpful information.

So the first thing Spencer says is, "Mom, what if I have leukemia?  Can we move my bone marrow biopsy date up?  I don't think we should be waiting another month.  Something's wrong with me!"

Ahhhh.....breathing, breathing...."Yes Spencer, something is wrong with you but you don't have leukemia.  You have Shwachman Diamond Syndrome and Mitochondrial disease remember?  You do have an infection and yes your white count is abnormally high but it's coming down and your infection seems to be going dormant.  You are okay.  You will be okay and the bone marrow biopsies will come soon enough."

Last night, I just wished the questions were easy like making the sports team, asking a girl out, but they are never quite that easy.  It's okay.  After some good long talks, everyone had a better perspective and we are rolling along today.

I hate the hard questions but I love them too.  We communicate better than we probably would if we were normal. I have great moments that I can connect with my kids and that is a good feeling at the end of a very long day.  They are going to be okay...but I am ready for a new week.


Tuesday, March 26, 2013

Losing sleep

It's been an interesting week.  I can't say that there has been just one thing to make it interesting but rather a series of things that really caught me off guard I guess you could say.

It started with this article...  You have to read it.  It is pretty intriguing.  I would love to summarize it for you but really, there is layer upon layer of thought provoking ideas.  Basically, they are using IVF, to alter the genetics of a baby, which means they can basically create a human being without disease.  Without mitochondrial disease.  They take the sperm and egg from the parents, which is full of unhealthy mitochondria,  remove the parent's nucleus and then place the parent's nucleus in the donor embryo which has healthy mitochondria.  The final outcome is that the baby would be free of disease.   That is the smallest nutshell of the article but you really need to read it.  It's quite fascinating and confusing.

  Method one: Embryo repair

So, my friend sent me this article and asked my opinion of it.  I rambled on and on with probably more randomness than she cared to hear.  My problem is that my brain races in a million directions and takes me a bit to clarify my point.  I usually have to say it a hundred different ways before it comes across the way I want it to.  Basically, if I could  do it over, because clearly, I am done having kids, and this option was available would I do it?

The short answer is NO.  I think messing with genetics is risky business and should be left up to God. But, in that same thought, there is a lot of grey.  There is no easy answer really and I'm not even going to try to attempt to share my thoughts on this here.  It's pretty much a personal thing but I did enjoy the conversation we had going and she was very patient as I did not take the short cut to getting my answer out there.  There is so much more to this new technique on the horizon than what your knee jerk reaction is.  The article hasn't left my mind.

Here's the thing,  I don't love what is happening to my kids.  There has been a lot going on today to remind me of just how much I hate watching kids suffer, my kids!  Nothing earth shattering has happened really but just the ugly reality that this is serious stuff.  I see kids with very similar problems to my kids and their doctors are being fairly aggressive in treatment and then I see some of our doctors and they are figuratively standing around scratching their heads and have no idea what to do!  It's maddening.   Despite all the frustration, I still believe that God has a plan and if we trust in Him, everything will work out.

Then, in a chat I had with a few parents, I mentioned that three doctors have referred to my kids as having Muscular Dystrophy which I find very strange.  I would get so mad and keep correcting them that in fact, my kids don't have muscular dystrophy.  We don't need one more disease to be saddled with.  Sadly, I learned today through my chat that what my kids have and a handful of others in this country is closely related and tied to muscular dystrophy. In fact, my friends' kids who have mito disease actually go to a Muscular Dystrophy clinic.  Sad.  Just kind of left me feeling sad. Just when you accept life and find a way to make it all seem normal, you get this wake up call.

So, I'm a little off today and tired.  Really tired.   We are going to Seattle the end of April to see all our Specialists- Hematology, Oncology, Neurology, Immunology and we are also attending a conference for families of children with SDS.  The best of the best will be there.  They will also be talking to the teenagers about transitioning to adult doctors from pediatrics and answering their questions and concerns.  I'm excited for my kids to begin to feel empowered to take care of themselves.  I am gearing up for a very emotional week while we are in Seattle, one that is crammed with information.  I am already feeling a bit overwhelmed by the thoughts of time I will miss from work, the expense of it all but most of all, finding out how much more ground my kids have lost.  I'm super nervous about bone marrow biopsies too.

My thoughts could fill up another 10 pages on this blog but for now, I am calling it a night.

Monday, March 25, 2013

Big News

Well, the great awaited day has arrived.  Sam is getting a Wish!  Make A Wish informed me that he is eligible and his Wish Granters have been assigned and things should start rolling.

I talked to Sam last week when we knew for sure, to see what he was thinking about in terms of Wishing.  That boy surprises me everyday!  You think you know your kids and then...from out of nowhere.

First off, he didn't seem very excited.  I was asking him if he wanted to meet someone, be something, go somewhere, the skies the limit.  He kept saying, "I don't know, it's hard to say."

"Well, lots of kids choose Disney.  I know one girl who did a Cruise!  You could visit a city you've always wanted to see, meet someone famous?"

"Mom! Why would I choose to go somewhere? I don't want to die yet?"
"What do you mean? You won't die visiting a different city?"
"Really?  You've already forgotten about New York?  That was terrifying!  We have the worst luck.  I would wish for a cruise and then a Tsunami would come and we will all die when the waves come crashing down.  Is that what you want?"

I thought he was just being dramatic and sarcastic but he really is a bit nervous! It surprised me because we weren't close to dying in New York for Hurricane Sandy and he didn't even seem phased by it at the time.  He didn't seem scared at all!  Unlike me!  It's true, we have lousy luck and whenever we try to do something fun to get a break from everything, it ends up being more hassle than it was worth, almost.

Then, he went on to give all the reasons why a Wish was a bad idea.  I finally convinced him that it wasn't a bad idea.  He didn't need to feel pressured to go somewhere, he could do something right here!  So, he started thinking...Again, I was surprised when he said he's always wanted to spend an entire week riding the biggest, baddest roller coasters in the United States.


That's cool but I had no idea he loved Roller Coasters like that!  I mean enough to spend a week riding them!

It will be interesting to see what he finally decides...Stay tuned!


Friday, March 22, 2013

Weekend update

The weekend is here already!  Time flies when you spend the whole week stuck in doctor's offices.  Oh well.  

The big news this week is that Spencer passed his Tuberculosis test!  There was still a red bump when he went back in yesterday but I guess it was in the 'normal' parameters so that's all well and good.

Sam is done his antibiotics but cellulitis rages on which I knew was going to happen.  I wasn't that naive to think it would be fixed in one fell swoop!

It's Friday and you know what that means...actually you probably don't and why would you care?  It's injection day and I am dreading the decision I have to make.  To inject or not to inject?  My leg is still really bad.  I can use my other leg but I was sort of saving that for my other shot or, I can give it to me in the stomach but seriously, I have been so uncomfortable with this reaction in my leg, can I really stand an issue like that in my stomach?  Here are some disgusting pictures of my leg... The first picture was about 2 hours after the injection.  It not only hurt a whole bunch but it was so itchy and hot like fire! From here, that white lump doubled in size and my entire thigh gained about an 1 1/2 in swelling all over.

Here is my leg last night.  There is still a lot of general swelling and the lump is still swollen but now it's a deep purple and feels like a horse kicked me.  Can you see my dilemma?  How can this drug be helpful if it does this when it touches my body?

Meanwhile, they sent me another supply which I didn't think they were going to do so now I have another month's worth sitting in my fridge.  It amounts to over $5000 worth of medication.  I am not seeing any relief yet but it could take a month to 6 weeks before I feel better.  We had a cold front move in earlier in the week with rain and snow last night and I could hardly get up the stairs to my office.  Sheesh....what to do, what to do? 

Well, here's hoping for a quiet week on the health front.  


Tuesday, March 19, 2013

Of Course

Today, Spencer had a physical for last step in sending off his missionary papers!  Hooray!  I love how people look at me when I tell them he is planning a mission.  They have this, "Are you kidding me?" look on their face.  It's true.  It seems everything we do is a little unconventional and hard to believe.

Part of the physical included having a Tuberculosis test.  I told Spencer it was no big deal, I had one six weeks ago and it barely hurt and you could barely see the needle prick.  Instantly, when the nurse injected him his arm swelled right up!  I couldn't believe what I was seeing!  The doctor came back in to start the actual exam and looked at his arm and said, "Holy smokes! I have never seen that before?  You better pray that calms down in the next 48 hours or we have a mess on our hands!"

That's always comforting!  That's all we need, Tuberculosis on top of everything else that poor kid is suffering with right now.  I think God is just testing us, testing our Faith.  I'm not giving up the idea of him serving a mission and neither is he.  If the truth be told, he has way more hope than I do.  Sometimes, I do feel overwhelmed that we are just pretending everything is okay when really it's not.  Those feelings never last long though and I have to believe that God is preparing a great place for Spencer to serve his fellow men.  He wants this so badly!  We will wait patiently for the results.  I doubt he has tuberculosis but it is sort of a scary thought.  And, whenever I think something is impossible, it seems to always happen so I am trying not to listen to my head right now.

In other news, Sam's toe is still infected but the skin is starting to die around the infection so that is a good sign that things are under control at least.  They wanted to do another injection of Rocephin but Sam begged to not do that.  The doctor said we could wait another day or two and if it continues on this healing trend, we can just stick with oral antibiotics.

I started my Enbrel injections finally!  I had to keep putting it off because of a sinus infection.  I had my injection on Friday and can I tell you it hurt like a sucker!!!  The patient leaflet said to expect some mild swelling at the injection site.  Mild swelling???  I have a baseball size lump sticking out of my thigh!  You can even see it through my pants!  It is so red, it is starting to look purple and it's hard as a rock and hot to the touch.  I don't think it's infected but it's something weird!  I have two days before my next injection and they suggest doing it in my stomach this time....not on your life! No sir, No way!!!! I'm not even sure I want to do it again at all, the pain is annoying, the kind you just can't get away from.  We shall see...It's hard to sell me on this drug when the first side effect mentioned, after the obvious like pain at the injection site, is Lymphoma.  Oh, hey, sign me up for that!  Crippling arthritis and lymphoma?  Sounds like a party to me.  Ugh.


Friday, March 15, 2013


We finally broke our bad cycle of IVIG luck!  The past three months, Shelbie has ended up in the ER multiple times after her infusion.  This time, with a little encouragement from our new Case Manager, I was able to be a little more assertive and insist that we do things my way.

That probably sounds rude and condescending but it's been a real circus the past few transfusions.  Our doctor writes orders but doesn't specify an infusion rate.  He asks that it is infused slowly but that's open to interpretation. When the hospital Pharmacy brings down the plasma, they tell the nurses to infuse it at a specific rate.  Then I usually, politely ask that it is another rate altogether.  Well, the Pharmacist seems to trump my opinion and the doctor's and it ends up going too fast and she suffers with way too many side effects.

This time, I let them know just how many times we have been in the ER and I really wanted to take things slow.  I acknowledged the fact that the pharmacist thinks it should be one way but in reality, as long as the plasma is infused before 24 hours is up, it's fine.  I pretty much begged them to keep it at 40 ml. per hour.  They agreed they would try it.  They did sneak it up to 55 but when she came in to bump it up again, I just asked that we leave it where it was at.  The whole infusion went better too, no reactions.  Maybe it was just a fluke but she has really been blessed.

We are 36 hours past the infusion and not even a glimmer of a headache.   I can't imagine, even if she gets one that it will be so bad we need to go to the ER.  So grateful!  We really needed a bit of a break from this.

I am still so worried about Sam's toe.  It is sort of starting to consume my thoughts.  It doesn't seem like it is getting any better.  He will be at his dad's this weekend so I'm hoping he keeps me up to date with pictures so I can compare and make sure it isn't spreading farther up his foot.  Avoiding IV antibiotics would be a real treat!


Thursday, March 14, 2013


Cellulitis.  Ask any mom of a Shwachman Diamond Syndrome kid and it is one of the things we fear!!! FEAR I tell ya!

Sam has been complaining of athletes foot for the past week.  I figured I would get to it but quite honestly, athlete's foot takes a back seat to loss of feeling in the feet, chronic nausea, CMV and the other things we've had on our plate this month.  I think I may have told him to pee on his foot while he was showering.  True story...I have had more than one doctor tell me that urine is the best cure for a fungal infection on the feet. It works, not that I've tried it but the boys have...really!

Anyways, last night, he really complained that it was hurting when he walked...that's not a typical symptom of fungal infections so I took a look.  OMG!! I couldn't believe the size of his toe!  Infection was oozing out and it was nasty.  I knew right off that we were dealing with cellulitis not athlete's foot.  I feel horrible to think I haven't paid more attention to him.

I ran him in to the doc first thing this morning to confirm the diagnosis.  He was quick to say that we needed to be extremely aggressive to keep this boy out of the hospital or IV Antibiotics. Sam is really low in the white blood cell area and his neutropenic at 900 so that is compounding the problem.  Not only that, he hasn't had a fever which means his body doesn't even recognize that there is anything out of the ordinary going on!  SCARY's the stuff nightmares are made of.  My nightmares at least.

They gave him a shot of Rocephin and started him on Keflex and foot soaks multiple times a day and I have to try to push the infection out after each soak.  Sam is not impressed and is not very co operative because he doesn't comprehend the seriousness of the situation.  I don't want to scare him but I'm not up for a daily battle either.  I am also adding Tea Tree Oil wraps and Coconut Oil dressings.

All this on the heels of Shelbie's rotten week and continued problems.  She had her transfusion yesterday.  She went into it sick so it has kicked her to the curb!  She can hardly even lift her poor head off the pillow.

Ugh...I keep telling myself it could be worse because it could be.  Sam is holding his own and as long as we can keep things stable that's good enough for me.  I just dread a blood infection or staph...blech...

Here is his poor toe.  You can see how the infection is even underneath his toenail and the tissue is swelling up over his nail.  So sad and so painful!


Friday, March 8, 2013

Follow up on Spencer

Took Spence in to the doctors again to see if he could get any relief from his sore throat and extremely over sized lymph nodes and glands.  After the examination, the doctor was sure Spencer had strep throat because it was covered in little white, infected sores.  Even though he didn't have any other symptoms that would indicate strep, we cultured it and it came back negative.

It looks like this is the CMV just continuing to cause problems.  The doctor said it can take a good 7-21 days for the sore throat and flu like symptoms to resolve but the fatigue hangs on forever.  This was a new doctor we were seeing and he must not have heard me at the beginning when I told him this has been going on since last October.  When I reminded him, he was speechless.

No antibiotics, no anti virals but he did give him a big steroid shot to see if that will bring the swelling of his lymph nodes down some.

When we were done, Shelbie and Spencer walked out of the room ahead of me, I was finishing up a visit with the nurse.  When I got to the end of hall, Spencer was collapsed on a chair, face down and Shelbie was laughing so hard I thought she was going to pee her pants.  I guess half way down the hall, his leg went numb from the shot they gave him in his hip and all he could do was drag his darn leg.  We stood there laughing so hard, even Spencer was laughing at the situation, until he could get himself out to the car.

Fun times at the doctor!  Hoping the steroids offer some relief.


Wednesday, March 6, 2013

Weight Watchers and Lymph Nodes

Weird title right?  Well, here's the latest developments over the past couple of days.  Shelbie started Weight Watchers.  What that really means is that we are all on Weight Watchers because I refuse to cook several different meals.  It's a healthy way to go anyways and not too far off from how I typically eat but quite a bridge to cross for the kids.

It's going alright and Shelbie has made quite a transformation in her eating habits.  She has found out that she has to be willing to try some new foods, vegetables she has flat out refused.  I don't eat breakfast and grab a yogurt for lunch and she has to eat three meals a day so she has started making her own breakfast and lunch.  I always knew she could cook, I guess I just never gave her the opportunity.  That part is all great!

It will be interesting to see how well this works.  I'm not sure how weight loss works in a person with a metabolic disorder and the far reaching problems she has.  Doctors have told her not to even try since her body is using all it's energy to just keep her major organs functioning and lets the non essential things go.  I hope it works, I know how much Shelbie wants to lose a few pounds.

I made some cookies tonight and didn't want Shelbie to feel deprived so I made her some 'Weight Watcher' sized cookies...
The big cookie is just a normal sized cookie, the little ones are diet sized at just a half a teaspoon!  I worked out the calorie count on the normal cookie and estimate the little cookies to be about 15 calories for one!  How fun!

Okay, so moving on...I don't know what's up with Spencer.  His lymph nodes are so swollen he couldn't even eat dinner or barely drink.  It even hurts to move his tongue and talk.  He doesn't have any other symptoms.  I filled him up with Advil in hopes the inflammation will go down a bit.  I guess tomorrow we will head back to the doctors.  I'm sure it's just that darn Cytomegalovirus but better safe than sorry.


Monday, March 4, 2013

Humming along

Things have been quiet on the home front!  Not very often I can say that.  It has been 48 hours since anyone had any sort of problems or discomfort. Shelbie is on her 'good' week after a rough two weeks after infusion and no headaches today.  I think she is having cluster headaches which is a completely different animal from migraines with a completely different kind of treatment, or so I have read.

Spencer got his groove back and he is back to his studies and flying through his last two science classes!  Tonight, we tried to finish his application papers for his mission.  We are Latter Day Saints and he has chosen to serve a 2 year mission.  Now, this is where I start to see jaws drop and that "Watcha talkin about Willis?" I know, it's hard to believe that Spencer will be able to go to some random place far and away, work 16 hour days and not get sick.

I don't know if they will let him go or not but we are moving forward with faith and hope that he will be able to.  He is worthy and ready to serve the Lord. Filling out those papers was hard in more ways than one.  They were hard just because of the immense amount of information required.  Hard because when you have to detail out his health problems, it gets extremely overwhelming.  Question after question I had to expound on why he feels sick every day, why his extremities go numb and tingly why, why, why.

After a couple of hours of that, I thought to myself, "Who are we kidding?  They are never in their right minds going to allow him to serve a mission, NEVER!"  It kind of felt a bit hopeless and sad. I asked Spencer if he felt okay about things and he too was overwhelmed and didn't feel too hopeful.

Enough of that, we have to stay positive.  Spencer wants this more than anything and he has lived a life that reflects the light of Christ. When most boys his age have or are experimenting with drugs, alcohol, and sexual promiscuity, he has kept himself clean morally and physically.  He has spent countless hours in service to those around him and despite all his health challenges, he just keeps moving forward.  He is a great young man, an amazing young man and anyone who meets him will feel his love.

I am both excited and nervous for the next few weeks.  All the paperwork is done, now for all the papers that have to be signed by all his doctors...that is this week's challenge. It's not going to be easy.

So, can't complain about how things are going.  I feel glad for the break in problems. I can feel a little more energy in the house and that is a great thing!


Saturday, March 2, 2013


Sometimes, I can be really impatient with this process of chronic illness.  Medicine has come so far and I recognize that but at other times, I get frustrated that it isn't moving fast enough.

Since Shelbie's transfusion, she has not been feeling 100%, not even 80% like we expect her to feel after IVIG.  The headaches were worse this time around, thanks to some hospital errors but they continue which is odd.  I could take her to the doctor but I know how it will end up.  Either they won't really hear what I'm saying or they will just toss us another prescription to try to mask the pain.  They throw around prescriptions like cheap Halloween candy, the kind every kid is disappointed to get.

In my perfect world, the one I live in inside my head, doctors actually listen to me.  They come up with the questions then go to work on the answers.  Real answers, not just another drug.

 I spend half my life, no, more than half my life trying to figure out how to make my kids better.  They are thoughts that consume the better part of each day even when I am focused on something else.  I have a hundred different hypothesis going on at one time.  I have theories about the levels of stomach acid in Shwachman Diamond kids.  Last night, I stayed up until the early morning hours, trying to find some answers to these headaches she is having.  She had one last night that sent her to bed earlier than usual.  I have a theory about the cause of the headaches too.

So, now I have this growing list of theories but no one to help me research and really discover if I am on the right track or not.  If I lived in a Utopia, I would have a week to spend with my favorite, researching doctors and go over all these ideas I have.  Places to look, things to discover about my kids, how everything is all connected, not separate.  Oh how I wish.

But, I don't live in a perfect world.  There are more questions than answers. I do have this theory about the headaches; I think she has a magnesium deficiency.  There are studies that show IVIG can affect magnesium and it is also something that can be deficient in Mitochondrial disease I think...How hard could it be for someone to check that?  Well, harder than you might think.

I have been so busy trying to get doctors co-ordinated for our trip to Seattle in April.  The kids will have their bone marrow biopsies done, a visit with the Immunologist, the Neurologist and the Hematologist.  But, we may add some specialties.  Along with this, I am compiling my wish list of things I want to be addressed. A mom can dream that someday, a doctor actually finds what I have to say of some value.  It's really hard to just by and feel useless while your kids ride this white knuckle ride of SDS and Mito.


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