BRCA1 and the Adventures of Pete the Cat

This is the first post in a series.

My sister by another mother, Rita, found a lump in her breast a few months ago.  This lump turned out to be cancer and was resected.  She started to undergo chemotherapy.  Being the rockstar that she is, she changed her work hours to 10 hours days Monday-Thursday so that she could get in her full 40 hours and save her sick days.  Chemo on Friday.  Sicker than snot on Sunday.

My fighting friend.

What happens when it turns out you have BRCA1?  You fight like there is no tomorrow.  You put on a brave face and kick cancer's butt.

Yet what happens while under chemo another, new lump is found and your lymph nodes are swelling?  You fight even harder. You. Do. Not. Give. Up.

Rita recently underwent a mastectomy and will be undergoing radiation until September.  She will then most likely have a different chemo cocktail since her lymph nodes have been invaded by cancer cells.  Please keep my "sister" in your thoughts and prayers.

I feel like, as a friend, I am not able to do much.  I cannot go through surgery for her.  I cannot take her chemo.  Instead, Pete the Cat the Cancer Mascot was born.  At the Melting Pot no less when we were throwing a "bye bye to the ta-tas" party.  It may not be much, but every day I text Rita pictures of Pete doing random things.  A daily reminder that I am thinking of her.

Updates on Rita can be found at: http://www.gofundme.com/6q7bj4

Here are just some of the photos I have sent her:

The pic on the left was taken at The Melting Pot where
Pete the Cancer Mascot was born.

GI Update: Colon Transit Study or Sitzmarker Study

After not hearing back on Monday, I had to hound the GI office to get a treatment plan.  Apparently Ellie's GI doc is on vacation and as such, her case is now being handled by the on-call doc.  The Dr. S, the on-call gastroenterologist, was the nice young man who performed Ellie's anorectal manometry.  We were called in for an emergency GI office visit on Tuesday.

Ellie after her GI visit on Tuesday.

By Tuesday, Ellie had not had a bowel movement in 9 days.  She had 4-8 x increase in her daily Miralax, Exlax x 2, Milk of Magnesia x 1, a glycerin suppository, 1 enema and 1 enema that I couldn't get into her.  This is along with her probiotics, juice, and a ridiculous berry consumption.

Ellie's X-ray showed normal bowel gas patterns which means gas was able to move through her intestinal tract.  Translation: no bowel obstruction!  There was moderate impaction from her ascending colon to the rectal-sigmoid colon.  Translation: moderate constipation throughout most of large intestine excluding the rectal vault.  Dr. S asked me if she went and didn't tell me since he expected to see much more stool on the Xray.  I incredulously looked at him and said "um, she is in a diaper so I am the one changing her and school gives me a daily report over the phone".  I was very thankful that she wasn't more backed than she was given how long it had been.

Bear is still up to her usual antics

There is a thought that Ellie's colon is moving very slowly.  This is called delayed transit.  Basically the stool does not move through the gut like the majority of the population's does.  As such, more and more water is reabsorbed into the intestine making the stool hard.  Hard stool = constipation and as such makes it much more difficult for Ellie to go.  The confusing part is why her rectum is consistently empty.  The doc has no explanation and is confounded.  I am finally being listened to!  Three different GIs have told me that she is stool withholding.  This is impossible.  The urge to go is felt in the rectum and if her rectum is empty. . . well you get the point.

To determine Ellie's gut motility, we are conducting a Sitzmarker Test aka Colon Transit Study.  This morning I force-fed 2 spoonfuls of yogurt containing 24 tiny radio-opaque rings that will show up on an X-ray.  On Monday, Ellie will have another abdominal X-ray.  They will count the number of rings in her colon and also look at the location of the rings.  Retaining 13 rings is considered within normal limits.  A repeat X-ray on Wednesday may also be necessary.

Right Colon	Left Colon	Rectosigmoid	Colon	TOTAL
4th Day	12	14	14	40
7th Day	0	0	2	2
Transit Time	12 hours	14 hours	16 hours	42 hours
Normal Value	11.3 hours	11.3 hours	12.4 hours		35 hours

This is for an adult--they take 3 capsules, not 1 like Ellie.

Photo: www.sitzmarker.com

On Tuesday evening, Ellie had a bit of diarrhea.  I guess the laxatives are finally working.  She had 3 more bouts through last night [Wednesday].  I am concerned that this will throw off the results of the transit study as diarrhea = increased motility.

Finally, Ellie is in the process of starving herself.  Last Monday 7/14, Ellie weighed in at 30.4 lb.  On Tuesday, she was down to 29.2 lb.  I am afraid to weigh her today.  On Tuesday, Ellie stopped drinking but was eating small amounts of food.  On Wednesday, she stopped eating but did drink.  After 40 hours of not eating, today she had a mini lunch at Quizno's.  She is also drinking.  She is not sleeping very well and as such is a little more wild and cranky.  I feel horrible for Ellie.  She must be positively uncomfortable.  I am really looking forward to getting some answers in the next week.

Desperate times call for desperate measures: Quizno's
Blowing y'all a kiss!!!  

Stomach Issues, Surgery, and 21 Day Fix

As I am writing this, I am anxiously waiting for Ellie's gastroenterologist [GI doc] to call.  Last Monday, Ellie had an ABR and an anorectal manometry performed under anesthesia.  Essentially girlfriend had a fancy hearing test involving electrodes and a complex rectal exam involving a tube with a balloon up her bottom and some funky wave patterns.  As expected, everything was/is normal.  Except for a ton of internal hemorrhoids :-(

Yes, she wore those boots into the OR.
Yes, they let her bring her flashcards too.

I cannot remember if I told you all or not, but Ellie was hospitalized in April for . . . are you ready. . . constipation.  Yep, baby girl couldn't go.  For over 8 miserable days.  She was distended and unable to eat much.  She was spitting up.   Nothing we did for her was working.  While it may seem ridiculous to be hospitalized for lack of bowel movements, it is common among preschoolers and school age children.  It is also serious--severe constipation that is.  Severe constipation can lead to colitis (infection) and intestinal perforation (ruptured intestine).  Perforations can lead to severe infection &/or death.  So yeah, you can die from complications related to constipation.  

Did I mention that her surgery was running 3 hours late?!

Bear has had GI issues off and on since 3 months of age.   If one more person tells me about prune juice, I will blow a gasket (I kid you not when I tell you that as we were getting discharged from the hospital, the nurse asks me if we ever tried prune juice?!??!  It was a miracle I didn't smack her with the discharge paperwork).  If I hear about fiber and increased water intake, I will also lose it.  These were the methods we used to treat Ellie's constipation when she was a wee little baby/girl.  Every once in a while a glycerin suppository was needed.  Ellie was more of a happy spitter.  Reflux R Us.  At age 2, Ellie had an Upper GI that rule out celiac's disease which can also present at constipation.  Her thyroid is checked every 6 months as hypothyroidism is also common in Down syndrome and can cause constipation.

Over the years, things have gotten worse.  We had to start giving Miralax daily even with her ridiculous consumption of berries and grapes (honestly, I would never be able to leave the bathroom with the amount of fruit this child eats!). 

This year has been particularly rough.  Her Miralax doses go up and down, but she is never off of it.  The constipation gets better for a few days and then worse and then better and then worse.  Occasionally things get pretty bad like in April and like this week.  I am constantly told that she must be withholding (as in refusing to poop because it may hurt) but her rectal vault is empty.  This means there is no urge to go and so it sits and sits and sits higher up.

When things get really bad, one day may look like this: 

1-2 capfuls of Miralax (up from her usual 1/4-1/2 cap)

Exlax

Milk of Magnesia

Pedi Fleets Enema

This may produce nothing.  We do enemas in 3s--Friday, Saturday, Sunday.  Exlax can only be given twice a week, tops as it is a stimulant laxative and the gut can get dependent on them.  So guess what we tried to do this past weekend?  You guessed it!  Enemas.  Only the 2nd one wouldn't go in.  I don't know if I hit a hemorrhoid or what, but I would not force it. We skipped the 3rd and called GI.

What happens when she still doesn't go????  X-rays.  They look for an obstruction.  Usually the obstruction is stool, very high up in her gut.  

In April, she was refractory to treatment and we were sent to the ER to then be admitted for nasogastric tube administration of GoLytely.  All of you who have undergone bowel prep for colonoscopies know what I am talking about.  There is nothing like watching your child scream in pain as her abdomen becomes taught and swells to the size of pregnancy while that GoLytely tries to get absorbed.  Then, thankfully, 8-9 days of waste flow out and girlfriend is no longer uncomfortable.

After that hospital stay, it became apparent that Ellie's constipation is stubborn.  And severe.  The anorectal manometry was ordered to officially rule out Hirschsprung's disease., which is another issue that can be more common in Down syndrome.  Hirschsprung's is usually diagnosed at birth when the baby doesn't pass meconium (that first tarry bowel movement) due to missing nerve cells in part of the colon.  However, mild cases may not be diagnosed until late childhood.  The manometry looks at how the internal and external sphincters coordinate--imagine if one opens but the other closes.  It looks at how the rectum responds to pressures as the doctor inflates and deflates the little balloon on the tip of a tiny tub inserted in the bum.

Wave patterns.  Anorectal Manometry
Image: www.ajpgi.physiology.org

Picture of balloon catheter for Anorectal Manometry
Photo: www.mja.com.au

So here I sit at the computer, waiting as my daughter is going on day 8 of no bowel movement.  Waiting for the results of the X-ray and praying that soon my child will find relief.  Thankfully, Ellie is still eating okay and she doesn't seem uncomfortable.  I am hoping that we can find some way to manage her GI problems without constantly traumatizing her.

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A few weeks back, I wrote about my lifestyle modification that led to a fair amount of weight loss.  I have had many readers contact me to find out more.  I want to let you know that I am starting a 21 Day Fix Challenge in August through Beachbody.  This is the Challenge that changed my life and led me to become a beachbody coach.  If you are interested or know of someone who might be interested, message me through my FB page 

http://www.facebook.com/annatheurerfitness

or email me at thechroniclesofelliebelliebear (at) yahoo (dot) com

You can also learn more at 

http://www.beachbodycoach.com/annatheurer

I still can't believe I am posting before and after pictures!

Therapeutic Horseback Riding-ERCT

We are fortunate to be a member of the Austin Special Needs group and the founder is a wonderful woman who tries to find all sorts of activities for kids with various abilities.  She recently set up a visit with Equine Rehabilitation of Central Texas [ERCT].  During this trip, Ellie had the opportunity to feed and groom horses and to ride a horse.

More on how this went with Ellie in a bit!

I have heard of hippo therapy and equine therapy, but I never really understood what it was.  Here is wiki's take on it:


Hippotherapy is a form of physical, occupational and speech therapy in which a therapist uses the characteristic movements of a horse to provide carefully graded motor and sensory input. A foundation is established to improve neurological function and sensory processing, which can be generalized to a wide range of daily activities. 


Equine therapy, also known as Equine-Assisted Therapy (EAT), is a treatment that includes equine activities and/or an equine environment in order to promote physical, occupational, and emotional growth in persons suffering from ADD, Anxiety, Autism, Cerebral Palsy, Dementia, Depression, Developmental Delay, Genetic Syndromes (such as Down Syndrome), traumatic brain injuries, behavioral issues, abuse issues, and many other mental health problems.^[1] Equine Therapy can help the individual build confidence, self- efficiency, communication, trust, perspective, social skills, impulse control, and learn boundaries.^[2] Since the horses have similar behaviors with humans, such as social and responsive behaviors, it is easy for the patients to create a connection with the horse.^[3] Riders with disabilities demonstrate their remarkable accomplishments in national and international sport riding competitions. Equine-Assisted Therapies all over the world have developed as a medical field recognized by most major countries.

Photo courtesy of horserct.org
This makes me so angry.  I am happy to report that he looks much healthier.

Ellie was under the mistaken assumption that we were going to go ride the horses, aka carousel, at the mall.  Imagine her surprise when she realized that they were real horses.  At ERCT, these horses were neglected and rehabilitated back to health before being trained to serve as therapy horses.  Upon arrival, girlfriend was led into the barn to feed the horses hay and carrots.  It did not go as planned.  She was afraid of the horse.  Excited, but scared.  She took great pleasure in gathering the horse feed and placing it in our hands.  Giggle of delight escaped her lips as Andrew and I fed the horse.  Giving Ellie the feed elicited cries and frantic shaking of her head  "nooooo".

Now Chicken was due to ride a horse and I am not talking about a Shetland pony here, folks. I mean a horse.  Big horse.  Imagine our surprise and shock when Ellie hopped onto that horse!

Riding the horse worked dramatically on her core strength and it wore her out more than any other activity.  Not only was her core working and her legs working to hold her up but also her mind.  She needed to channel all of her concentration into staying on top her horse.  Take that ADHD!  Her communication was also put into practice.  She had to give commands to her horse such as "walk on", "stop", and "go".  Ellie has to sign walk and stop sounds a bit like "op!", but her "go" is perfect.  Finally, her fine motor skills were honed in while she was forced to hold the reigns.

Next week, she will start regular lessons and learn to groom and feed her horse.  She will learn to care for her saddle and will also build an unspeakable bond with her horse Mickey.  Er, Icky!

*ERCT is a nonprofit 501(c)3 that is run by volunteers and donations.  It can cost upwards of $3,000 to nurse a emaciated horse back to health.  Lisa, the owner, is always looking for people to volunteer.

Michelle's Journey: A guest post

I would like to welcome guest blogger Michelle from The Hailey Herald.  Michelle and I are not only blogging buddies and Facebook buddies, but also cyber workout buddies.  Michelle has done a major lifestyle overhaul, because like me, she needs to live forever.  She is an inspiration and keeps me motivated to continue to make permanent changes in my life.  Michelle has been on the beachbody journey longer than I have: 21 Day Fix, T25, and now PiYo.

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Kicking Booty

by Michelle Arthur

As a mom, it is pretty normal to put yourself on the back burner and put the kids first.  It's what we do, right?  It's what we are expected to do, right?  Well, unfortunately, I was doing that even before I had children.  I didn't put my health first.  I have had a weight issue as long as I can remember.  I remember it as early as 6 or 7.  I was an emotional eater and portions were always too large.  I did ok through junior high and high school.  I wasn't fat, I wasn't thin.  I didn't exercise enough.  Enter college and the eating was worse and the exercising was worse.  I'm positive I added the freshman 15 or maybe even 20.  After college, I entered the workforce.  I worked then went home.  I have always eaten a lot of fruits and veggies, but I've also always eaten sweets, drank pop, and ate too many carbs.  Then came four pregnancies. I never gained much with the kids and I always took it all off.  I would gain 5 here and lose 5 there, but nothing more and nothing permanent.  I would focus on eating and working out for a week or two here and there.  It was always short term and a quick fix.  As a result of the weight and eating, after I had my babies, I didn't go off of my blood pressure medicine.  It was a permanent fixture in my daily routine.  I truly thought I was the size I was and nothing was going to change it.

Back in February, my sister-in-law asked if I wanted to do a 21 day clean eating program with her and another sister-in-law.  Sure...why not?  What's the worst that would happen?  I knew that my eating needed to change, but never took the initiative to do it and it's always better to suffer together, right?

With the eating program, there were 30 minutes workouts.  The first few days seemed like torture.  I had given up soda back in October so drinking strictly water was easy.  Reducing my carbs were a bit more challenging.  I did find out that I wasn't eating enough protein nor were my veggie and fruit servings big enough.  21 days actually passed quickly.  There were days that I wanted to sway off of the program, but I stuck to it.  At the end, I had lost 15 pounds.  I felt better about myself and was stronger.

I don't follow the program as closely now, but I have lost a total of 40 lbs since February and have dropped 3 sizes.  I would like to lose 5 more, but we shall see.  I am the size I was in high school and a few pounds lighter than then.  I have done a major overhaul on my eating.  I crave healthier, cleaner foods.  I search for recipes for my family that are better for them and me.  I love finding new recipes for vegetables and whole grains.  I know some of my friends laugh at some of the foods I've tried, but honestly, food tastes better now.  I eat oatmeal every morning....before this, I loathed oatmeal!!!  My new favorites right now are Greek salads and sweet potato nachos.  Spaghetti squash isn't too bad either.

I had a yearly physical last week with my doctor.  My bloodwork was fantastic!  My triglycerides went from 157 to 45.  My blood pressure dropped from 150/80 to 106/80.  For the first time since high school, my BMI and weight are in the healthy, normal range and not considered overweight or obese.  My doctor was quite surprised because my numbers have been similar for years.  She asked what I had been doing.  I told her lots of exercise and an overhaul in the kitchen.  She commented that most people know 80% of their weight issues start in the kitchen, but that most people don't want to hear it.  I was one of those people.  I've done the working out portion for years now, but every time my food would stay the same or only change for a week or two.  I always failed.  Now and then, I have foods that are horrible for me, but each day is a new day.  I don't feel guilty about it.  I just control it.  I've given up emotional eating and eating out of boredom.  I'm more conscience of it now.

It's not been an easy road and I'm sure it will be a constant battle most of my life (it has been most of my life anyway).  I did this for my family...for my kids...for me.  For the first time in my life, I am comfortable in my own skin.  I feel good about who I am.  I'm not embarrassed to be in public with my kids.  I didn't want my children to think that their mom was fat.  I'm hoping my children will gain a better relationship with food and have the knowledge to make healthier choices and know that exercise is an important part of life.

I'm actually okay with pictures for the first time.  I think it is because it is the only place I can actually see the difference.  I still don't "see" it in the mirror even though, I have entire new wardrobe with clothes that are sizes I never dreamed of wearing ever.  You may not be able to tell much from the pictures.  I had a habit of cropping out the bad parts and would only do from the waist or chest up.  

Brayden's birthday last August

Jason's birthday in October

Top pic is Ian's birthday last year and the bottom is Ian's birthday this year.

This year...girls weekend in May

Ian's birthday this year

Father's Day this year