Mattie update 2/10

Waiting…….. Something I have discovered I am no good at. It is also something that we have been doing a lot of the last few months.

Back on November 19th Mattie had a muscle biopsy along with some other testing to see if we could find some answer as to why she has been struggling so much lately. Most of the test results have finally come in (others will take another month or so). I am still trying to wrap my head around all of the information so bear with me as I try to explain it all.

Mattie has been diagnosed with a “probable” Mitochondrial Myopathy.  They explain the “probable” with the following blurb.

*Note concerning terminology: Due to the complexity of the gene system that codes for and regulates oxidative
phosphorylation, the term “probable” is used for all cases that do NOT have a gene defect identified. The term “definite” is
reserved for cases where a specific gene defect has been identified. This is consistent with the approach to diagnosis of
many categories of disease. Data is obtained as the patient is evaluated that either increases or decreases the probability of a
specific diagnosis.

They have started running the DNA tests and hopefully we will be able to identify the specific defect causing the problem with the mitochondria.  The docs tell me that only about 10-15% of the patients will end up with a gene identified with the current technology and information available. They did say they would keep testing and sounded very hopeful that they would identify the defect.

I asked if the test results could be explained by anything other than mitochondrial myopathy and they assured me that they felt very certain that this was indeed mitochondrial myopathy and that they couldn’t come up with anything else that would explain the results.   So… I am trying to set down my denial and wrap my brain around the new diagnosis. We got a lot of new information and were assured that they would go over all of it again at our next visit.  They also suggested that this may in fact be related to her other syndrome some how (Klippel Feil Syndrome). I am very interested in the genetics of all of this and how it all comes together.

So what does this all mean????? That is an awesome question… and one that I am not sure I really know the answer to. Here are the facts that I have been able to put together.  If I have missed anything or if you have any other questions let me know. I will do my best to answer the best that I can.

• Mattie will be starting two different supplements to try and counteract the fatigue.
• She will be having regularly scheduled blood tests to monitor her lactate and pyruvate levels.
• Mattie will be repeating her resting metabolic study in 5 weeks and then again yearly.
• She needs to avoid over-exertion.
• They would like her to continue speech, occupational, and physical therapy long term.
• We have to get her drinking more fluids.  If she is ill we will have to consider IV fluids.
• She needs to avoid bacterial and viral illnesses.
• We will finally be getting that new wheel chair I have been putting off.

They have given us information to pass along to all of her physicians and therapists. She now has restrictions placed on her as far as medications she can take, anesthesia that can be used, and physical activity. Any problems with illness and physical exertion are associated with worsening in her neurological status. She will also need to be followed by an ophthalmologIST and cardiologIST. The docs will have us doing the mito follow up with the folks at Medical Neurogenetics and with her NeurologISt . I think we now see just about every kind of IST they have.

My mind is mush and that is all I can think of at the moment. Feel free to ask questions. Thank you to everyone for all of your prayers and support. It means a lot to know that you all are praying for us.

Shelly

Stats week two

I am only down 1 pound this week. It has been a high stress week… and I feel great to have survived without a gain. My weight loss total to date is 5.5lbs.  I also lost another half inch around my waist.  Sorry this  update is so short. I will be posting a Mattie update shortly.  I promise to post a better update next week.

How are you all doing with your diet/exercise?

STATS FOR WEEK ONE

Today was the big weigh in. I have to admit I was a little afraid. I hit the snooze button a couple of extra times just to prolong my visit to the scale. Weighing in is a lot easier to do when you know you have followed the meal and snack schedule.

This weekend we went out a couple of times and I didn’t stick to the plan as well as I had hoped. I did pass on a lot of the stuff I am not supposed to have…..you can’t imagine how hard that is to do. We went to Chili’s and I actually ended up leaving after looking at the menu and deciding it would be way to stressing to try to find something. Did you know that their low-calorie meals can have up to 750 calories!! Seriously? I wanna know who decided that was healthy. Makes you wonder what the calorie count on the rest of the menu is. I did learn that I can survive a trip to Moe’s and enjoy my taco without sour cream and cheese. Throw enough jalapenos on something and you really don’t notice the missing ingredients.I totally cheated and ate some chips and salsa. I LOVE salsa. I need to find something healthier to eat it on.

Steve got me a new food processor to help me with all the slicing and dicing. He was also nice enough to go out and do the shopping for all my new food. (He is a major coupon freak and I think this was the hardest shopping trip he has ever been on.) If anyone knows where to find coupons for capers, lettuce, scallions,carrots, raw nuts, etc. please share.The meals haven’t been bad. I will try to post a few of them as I try more and find meals I like.

So here are my results from the week:

Total weight loss -4.5lbs

Waist -2 inches!!!! (that totally rocks!)

I was going to post a before and after picture… but I am just not that brave.

Anne is kicking my butt in the working out dept.  My goal is to get my rear in motion this week. I gave the neighbors elliptical a try this morning and was floored at how little time it took to have me  gasping for breath and thinking I should be wearing a Life Alert necklace. I am going to try to up my time and add in some walking and weights at home.

That’s it for this weeks update. See ya next week!

Hugs and Hope

Back in June of 2004 Mattie was a featured child with Hugs and Hope. They are an amazing group of people. They have sent us happy mail, Christmas gifts, support, and just a general feeling of not being alone. If you get a chance drop by the site and send some happy mail!

Mission Statement

The Hugs and Hope Club for Sick Kids is a ministry devoted to encouraging children battling critical illness and their families.

*The HUGS and HOPE Club provides the rare gift of friendship:  a listening ear, a sympathetic heart.*

Our mission is to share God’s love and provide friendship and support to families of sick children who live within the United States by sending happy mail and offering various activities to children between the ages of 2 and 17.

We do this through the following projects and programs:

* Mailing cheery cards (a.k.a. “happy mail”)

* Providing balloon bouquets to hospitalized children

* Granting children’s wishes

* Providing Christmas gifts through our Elf Project

* Assigning a  personal “parent pal” who encourages, cheers, and supports the family in crisis.

“Blessed be the God and Father of our Lord Jesus Christ, the Father of mercies and God of all comfort, who comforts us in all our affliction so that we may be able to comfort those who are in any affliction with the comfort with which we ourselves are comforted by God.  For just as the sufferings of Christ are ours in abundance, so also our comfort is abundant through Christ.”        (II Corinthians 1: 3-5)

Send some joy to a sick child!

Dinner

I started the Real Age Diet on Monday.  I am not supposed to weigh in until Monday. (I totally cheated) I will say that I know it is working. I hope it is doing as much for my cholesterol numbers as it is for the numbers on the scale. I have struggled a bit trying to make the diet work. I am learning a whole new way of cooking and putting meals together. Tonight’s was super delicious so I thought I would share it. Here is a picture and I will post the recipe.  Enjoy!

I am totally not a photoprapher… so I promise it looked so much better than what I was able to capture.

APRICOT CHICKEN & GREEN BEANS WITH ALMOND SLIVERS
2 servings

What’s In It for You (per serving) Daily calories 407.44 Total fat (g) 23.15 Saturated fat (g) 3.13 Healthy fats (g) 18.9 Fiber (g) 4.24 Carbohydrates (g) 22.02 Sugar (g) 4.27 Protein (g) 27.72 Sodium (mg) 61 Calcium (mg) 88.97 Magnesium (mg) 74.74 Selenium (mcg) 21.17 Potassium (mg) 466.05

Chicken Ingredients:
2 skinless, boneless chicken breast halves (about 4 ounces each)
4 dried apricots, chopped
2 tablespoons white wine
2 shallots, chopped
1 tablespoon olive oil
1/8 teaspoon ground cinnamon

Green Bean Ingredients:
1 cup thin green beans
3 shallots, thinly sliced
1 tablespoon olive oil
1 teaspoon wine vinegar
1 teaspoon maple syrup
1/4 cup slivered almonds
Salt and pepper (optional)

For chicken, heat oven to 375F. Place chicken in glass baking dish. Saute remaining ingredients together until tender; transfer to blender (or food processor) and puree. Spoon over chicken and bake until chicken is cooked through, 15 to 20 minutes. Meanwhile, for beans, steam or blanch beans until tender but still firm and bright green. Sauté shallots in olive oil, vinegar and maple syrup until translucent. Add almonds and brown slightly; toss with beans. Season to taste with salt and pepper if desired. Serve alongside chicken.

Thursday Thirteen

Top 13 foods I miss the most while on my “diet”

1. Sweet tea (going to try making  it with sweet n low tomorrow)

2. Brownies

3. Cheese fondue

4. Ranch dressing

5. Chips

6. Steak

7. Butter

8. Cereal that doesn’t taste like cardboard

9. Kit Kat bars

10. Hazelnut coffee creamer

11. Bread

12. Chocolate malts

13. Chicken fried steak with mashed potatoes
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Wordless Wednesday

Went in for my mammogram last week.. I had a hard time being serious once I took a good look at the wallpaper. I would love to hang out with the person that thought this was a good choice in decor for the  Breast Health Center.

Really????

At least they give you a giggle before they squash you.

Monday Morning Stats Week One

I posted yesterday about my lovely cholesterol and triglyceride levels. Today marks day 1 of trying to get those numbers down. The doctor put me on Lipitor.I also want to do my part to bring things down. I am going to give the Real Age Diet a go.  I took the real age test and after entering all my info found that I wanted a retake as soon as possible.  It aged me 6.1 years. Yuck…. double yuck even!

The doc says I have mixed hyperlipidemia. (Just big words for “you can blame your parents for your sucky triglyceride and cholesterol levels”) I do have to take responsibility for part of the problem… Have you seen me eat?  Hopefully the new diet and meds will help me get those numbers down.

My weight has never been a big issue…but I am starting to feel uncomfortable in my own skin. My BMI is in the healthy range, and friends roll their eyes when I start talking about weight loss. Still, I am heavier than I have ever been in my life.  I figure you probably don’t wake up one morning and you’re fat.. something happens between skinny and fat.. I think I am in that middle land and it is time to make a choice.

My girlfriend and I are going to start on this adventure together. You can follow her journey over at Monday Morning Reality Check We will be posting each Monday with our progress. If you decide to join us on this journey send me your link.

I am not going to  post my weight. I will post a plus or minus and will update my cholesterol levels as I get those in too. Here is my starting cholesterol info. No pluses or minuses until next week.

Cholesterol 245

HDL 42

triglycerides 158

LDL 171

Ratio 5.8

Year of the Mom

Looking over our claims from last year I calculated that I am in the doctor’s office or therapy facility with the kids (okay, mostly Mattie) an average of 16 times a month.   I have watched the kids have surgery, cleaned wounds, done physical therapy, cleaned pin sites, cut out stitches, emptied drains…you name it. I have dealt with the good, bad, and the ugly. You would think that going to the doctor would be a non event.

You would think wrong! I am the world biggest chicken. I went to the doctor back in 2007  and had several new health issues brought to my attention.  I failed the dreaded PAP screening. Went back for a biopsy and was told that I was pre-cancerous. Good times!  I also got word that my genes and eating habits had caught up with me that my cholesterol was high.  I started new meds for the cholesterol and agreed to go back in 6 months for a follow up PAP.  Several month latter I went in to have some hip pain addressed. (broke my arm and hurt my leg in an eyebrow plucking incident…that will have to be a whole other post.) They took x-rays and addressed some issues with my back and changed my cholesterol meds.

Fast forward to 2010..Yep, it took me that long to go back.  I finally went in for a physical (and a tongue thrashing from my doc) They noticed my thyroid was enlarged and sent me off for an ultrasound. I also finally had a new PAP and some blood work.  Miracle of miracles my cervix is good as gold. Not only did I not develop cancer.. the cells all look normal. My cholesterol and tryglicerides suck. I will be starting a new diet this week and have been put on new meds. (I promised to take them for more than a month this time.) My thyroid is enlarged and has a nodule. I get to go back in a few months and have it scanned again along with some more blood work. I also got to experience the joy of my first mamogram. Did I mention that I am getting old and falling apart??

Okay, so I have no real reason to be blogging about all of this.. No real deep meaning or thought provoking info here.. Just wanted to let everyone know that this year I am officially declaring this to be the Year Of The Mom! My doctor told me it was time. She even offered to write me a script to go get my nails done. (she thought Steve might want as note) It has been such a huge relief to get all this gunk over with. None of it was fun. Got some good news and some bad. …but I know were I stand. No more worrying about what might be found or what lies lurking around the corner.  I survived the dreaded check up. I paid attention to me.

Make this the Year of the Mom in your house. Go get a check-up.

Finally posting an update

Mattie had her testing and surgery in November. On the 19th she went into Scottish Rite and had muscle and skin taken from her thigh. Mattie was a trooper as usual. She had the procedure done with just a femoral block.  They called me from the O.R. to assure me that Mattie was fine, and I could hear her making  jokes. She ended up coming back from the O.R. with a full entourage all laughing and telling us what a funny and brave girl she is.  I forced her to take one dose of pain meds and that was it for her. I caught her in socks doing ballet moves in the kitchen the day after surgery. I made her hang out in the wheel chair a few days to ensure the stitches and tape would last until she started to heal.  All of the tape has finally come off and the leg looks pretty good. I don’t think it will leave too much of a scar. It is about 2 inches in length.  They said that it would take 3 months minimum to get the results from all of the testing.

Katie and her crew came to visit. It was wonderful to see them!!

On Dec 13th we flew up to Philadelphia. We visited with the hand and leg specialists. Both of those check-ups went well. We do not have to go back to see the  hand guys again. They came in and brought a few residents. They had not seen the procedure that Mattie had done before.  It was very interesting to me to hear them talk, and see what their thoughts were. I think Mattie felt a bit like a lab rat. She is excited that she wont need to see them again. Our leg doc Dr. VanBosse thinks Mattie’s legs look great. We are going to continue to keep up with physical therapy at the hospital and at home. They also want us to think about putting Mattie into some sort of sport or dance class to work on muscle coordination. We will have a check up with them again in a year. Tuesday we had an appointment with radiology and Dr. Betz.  Both appointments went well.  Mattie’s neck still looks stable and we do not have to go back for x-rays for another year. That is always good news!

It’s late.. I think I got everything though. Let me know if you can think of anything I have forgotten to update!