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Showing posts from March, 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 tha…

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...http://www.bbc.co.uk/news/health-21806911  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.




So, my friend s…

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 ha…

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 l…

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 te…

Finally

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 pharmacis…

Cellulitis

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 pa…

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…

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…

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 a…

Utopia

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 bet…