Thursday, September 26, 2013

Michael J. Fox & Parkinson's

I remember very vividly when my mom told me she was diagnosed with Parkinson's. It was October 2008. I was pregnant with Will. My mom, sisters and I had all gone to a proper "ladies" lunch, enjoyed a fun drink (no alcohol for me) on the restaurant patio and then back to my parents house to catch up etc.

Learning my mom had Parkinson's was unknowingly one of the first of many terrifying moments in my life. Thankfully, now five years later she is still doing remarkably well. In those early months I would cry myself to sleep thankful she saw me get married, but wondering if she would be able to see my unborn (undiagnosed) son graduate from college.

I obviously have a unique interest in not only a cure or real treatments for mitochondrial disease, but also for Parkinson's. My mom and I carry the same gene mutation as Will. There's no reason why I couldn't too end up with Parkinson's one day.

Mitochondrial dysfunction is associated with Parkinson's, Diabetes, Alzheimer's and by some reports Autism.

Michael J. Fox was diagnosed with Parkinson's nearly 15 years ago. It's amazing to see what research and forward movement his Foundation has amassed. He is returning to the TV screen tonight in a series premiere based loosely on his life and Parkinson's will inevitably be part of his story line.

Here is a link to an opinion piece written by the CEO of the Michael J. Fox Foundation.

I have my DVR set - out of curiosity, out of appreciation and out of hope - hope that perhaps this will amplify the need for viable treatments and a cure of Parkinson's and mitochondrial disease.

Monday, September 23, 2013

What Should Will Know as a Four Year Old?

I saw this on Facebook and held on to it... I constantly go back and forth in my head about how to encourage Will to continue learning and pushing him to do more VERSUS what are his physical limits to learning?

What adaptive things could/should we be doing? How/what could we do that will help him learn without making him feel uncomfortable.

At the mito caregiver retreat I went to recently there was an exercise on roles. The patient role has been on my mind a lot. We were in small groups rotating around trying on different shoes that represented different roles. At the patient experience one person was asked to put on a pair of flip flops and then the small group had to vocalize their observations about the "patient" in the flip flops. The patient was not allowed to speak - to speak for themselves.

I hate the way we have to talk about Will in front of people who are trying to help him. It makes me sad that he now says he is "wobbly" one day probably because he has heard other people, including me, say that.

So, how do I push for growth, recognize his limits and keep his self esteem intact? I liked the thought process this pre-school teacher wrote below.

Written by a Pre-School Teacher –

 I was on a parenting bulletin board recently and read a post by a mother who was worried that her 4 1/2 year old did not know enough. “What should a 4 year old know?” she asked.
Most of the answers left me not only saddened but pretty soundly annoyed. One mom posted a laundry list of all of the things her son knew. Counting to 100, planets, how to write his first and last name, and on and on. Others chimed in with how much more their children already knew, some who were only three. A few posted URL’s to lists of what each age should know. The fewest yet said that each child develops at his own pace and not to worry.
It bothered me greatly to see these mothers responding to a worried mom by adding to her concern, with lists of all the things their children could do that hers couldn’t. We are such a competitive culture that even our pre-schoolers have become trophies and bragging rights. Childhood shouldn’t be a race.
So here, I offer my list of what a 4 year old should know.
  • She should know that she is loved wholly and unconditionally, all of the time.
  • He should know that he is safe and he should know how to keep himself safe in public, with others, and in varied situations.
  • He should know that he can trust his instincts about people and that he never has to do something that doesn’t feel right, no matter who is asking.
  • He should know his personal rights and that his family will back them up.
  • She should know how to laugh, act silly, be goofy and use her imagination. She should know that it is always okay to paint the sky orange and give cats 6 legs.
  • He should know his own interests and be encouraged to follow them. If he could care less about learning his numbers, his parents should realize he’ll learn them accidentally soon enough and let him immerse himself instead in rocket ships, drawing, dinosaurs or playing in the mud.
  • She should know that the world is magical and that so is she. She should know that she’s wonderful, brilliant, creative, compassionate and marvelous.
  • She should know that it’s just as worthy to spend the day outside making daisy chains, mud pies and fairy houses as it is to practice phonics. Scratch that– way more worthy.
But more important, here’s what parents need to know.
That every child learns to walk, talk, read and do algebra at his own pace and that it will have no bearing on how well he walks, talks, reads or does algebra.
That the single biggest predictor of high academic achievement and high ACT scores is reading to children.
Not flash cards, not workbooks, not fancy preschools, not blinking toys or computers, but mom or dad taking the time every day or night (or both!) to sit and read them wonderful books.
That being the smartest or most accomplished kid in class has never had any bearing on being the happiest. We are so caught up in trying to give our children “advantages” that we’re giving them lives as multi-tasked and stressful as ours. One of the biggest advantages we can give our children is a simple, carefree childhood.
That our children deserve to be surrounded by books, nature, art supplies and the freedom to explore them. Most of us could get rid of 90% of our children’s toys and they wouldn’t be missed, but some things are important– building toys like lego and blocks, creative toys like all types of art materials (good stuff), musical instruments (real ones and multicultural ones), dress up clothes and books, books, books. (Incidentally, much of this can be picked up quite cheaply at thrift shops.)
They need to have the freedom to explore with these things too– to play with scoops of dried beans in the high chair (supervised, of course), to knead bread and make messes, to use paint and play dough and glitter at the kitchen table while we make supper even though it gets everywhere, to have a spot in the yard where it’s absolutely fine to dig up all the grass and make a mud pit.
That our children need more of us. We have become so good at saying that we need to take care of ourselves that some of us have used it as an excuse to have the rest of the world take care of our kids.
Yes, we all need undisturbed baths, time with friends, sanity breaks and an occasional life outside of parenthood. But we live in a time when parenting magazines recommend trying to commit to 10 minutes a day with each child and scheduling one Saturday a month as family day. That’s not okay!
Our children don’t need Nintendos, computers, after school activities, ballet lessons, play groups and soccer practice nearly as much as they need US. They need fathers who sit and listen to their days, mothers who join in and make crafts with them, parents who take the time to read them stories and act like idiots with them.
They need us to take walks with them and not mind the .1 MPH pace of a toddler on a spring night. They deserve to help us make supper even though it takes twice as long and makes it twice as much work. They deserve to know that they’re a priority for us and that we truly love to be with them.



Monday, September 16, 2013

Will We Ever Be Shoeless?

Happy 2013 Mitochondrial Disease Awareness Week!

There are so many facts and stats to share about mitochondrial disease, but I am not really feeling like a fact and stat type mom today.

This past weekend I had a chance to attend a UMDF sponsored SPA Weekend - Support, Play, Acknowledge. The activities were centered around the "Welcome to Holland" poem, which I have posted before. The organizers did an amazing job with integrating the theme into meaningful activities and projects.

A few of the activities dealt with shoes... I'm always, always, always waiting, agonizing, debating, analyzing which shoe will be the next to drop. Trying to anticipate it, trying to learn enough about each issue without becoming a hypochondriac, trying to monitor every minute of his life to identify potential problems.

Which body part is going to fail Will, what illness is going to take him down, how will he die, when will he die, what comes next. I have spent countless hours debating these topics and more in my head.

As hard as I try every day to just be in the moment, my emotions and thoughts can spin out of control. Pick an issue - school for Will and I can create "what if" scenarios from here to kingdom come. Everything from what if he gets hurt, what if the kids are mean, what happens when he is excluded for no fault of his own - it could go on literally for days.

I will forever be waiting for the other shoe to drop. Even after he is gone.

I've realized we are actually centipedes in mito world. The number of shoes that are going to drop in our lives, in Will's life, are countless. Once that "big shoe" drops, there is going to be another one lurking in my head and heart. They will never stop. Awake and vigilant because I do not want to be caught off guard. That has happened too many times in our journey.

Right now, this to me is mitochondrial disease.

Small and big shoes will fall one by one. Never in the order you think. Never easy to catch.
We were shoeless once...
Living in Italy
Unknowingly arriving in Holland.
Trying to figure out how it all works in a country we were never prepared to live in.

And somewhere along the way, we figured out how amazing and
beautiful Holland is once you wipe away the tears.

And waiting for the other shoe to drop sometimes looks the same and that can make it a little easier.


Wednesday, September 11, 2013

PulseOx and Speech update

The pulse OX machine and oxygen equipment arrived last Friday.

A PulseOx machine sensor (the part you adhere to your body) is sort of like a long band aid that wraps around Will's thumb with two sensors inside. One of the sensors is a small red light, so we have nicknamed our PulseOx machine Rudolph.

It connects to a machine which reads Will's heart rate and his oxygen saturation levels in his blood. If his oxygen levels are below 96, that's not ideal.

The machine

The sensor, you wrap the long tan strip around your pointer finger. The sensors are included on the strip.

We hooked Will up to the finger monitor for heart rate (HR) and Oxygen saturations (OX) on Saturday and Monday nights.

It seemed to stress him out so we did it alternating nights to try and get decent sleep the other nights. He woke up in the middle of both nights upset and wanted to remove the monitor about 1 a.m. and 4 a.m. respectively.

We monitored his HR and OX as best as we could during the night. Essentially his OX never went below 98, but mostly stayed at 99 or 100. His HR wavered between high 60s and low 90s. Consistent with some of the sleep study results, his HR was higher at the beginning of the night then as he settled into sleep it dropped. I would say that it mostly hovered in the 80s.
Our plan as discussed with the doctor is to monitor his HR and OX levels to assess when or if to actually start oxygen during the night.
I am hesitant to start the OX because his OX saturations levels seem fine. Per Dr. Jon's comments - we want Will to be in the sweet spot of 96 - 99. If we use oxygen and his OX saturation levels hit 100 WHILE USING the oxygen, then we won't know how far over 100 he is going. So it could be 101 or 501. The machine doesn't measure after 100. We want to avoid oxygen overdose, hence why the sweet spot is 96 - 99.
So we continue to monitor his heart rate and are not starting the oxygen until we have more data. Frankly this is pretty stressful on him and I'm not going to do it unless we have absolute proof that it theoretically could be helpful.

So, Rudolph and Will are slowly becoming friends.

However, this really doesn't answer the question about what to do with higher than normal resting heart rates as indicated in the sleep study.

Not sure we'll ever really have an answer, but for now I am happy with where we are at and what our trial is showing at home.

Speech milestone!
This is Will's first full week back at school since August 15 ish. He seems pretty happy to be back. He hit a HUGE milestone in speech on Tuesday. We have been working on the "s" sound. He can say s without blending it, for example, sun, so, sit. But he can't do an "s" blend such as smile or slide.

We finally got him to start "adding his s" in front so it was SSS   Lide. On Tuesday, without a lot of prompting he said SLIDE - all one word and he did this pretty consistently during the session. Words such as SLED, SLEEP etc.

We cut the session short because his speech therapist was sick so we opted out for germ exposure. We are ALL so proud of Will. It was a huge moment. 3 days a week for at least 4 months of working on S blends and here we are. FINALLY!

We have a road to go with speech, but I am just so proud of him! Basking in the glow of all his hard work.

Friday, September 6, 2013

Sleep Study #2 Results

I recently posted about Will's second sleep study. Friday, Aug. 29 we had an appointment to meet with the pulmonologist in the UT Mito center to go over the results. This was literally the week from hell with the hospital, dentist, ataxia and my hormones raging from being pregnant.

Side bar, I really like Dr. Jon. She is just so pleasant and her perspective is more about treating the whole child, not just what you're there for. Really a great experience. So great that she's apparently booked up until January 2014 so we were squeezed in for an appointment. That meant our apt was at 9:30 a.m. and we were done about noon. Will was a great "waiter" - we made three trips to the bathroom, played with smurfs, a sand table in the waiting room and just general waiting room entertainment.

The back story is in the link above....

She went over his first sleep study results and his second one that we had in early August. Overall there were three points of concern, not huge concern, but of concern.

1. Heart rate: Will's sleeping/resting heart rate is in the high 90s. I believe the average is high 70s/80s. So not terrible, but not "right" either.
2. Central apnea: This means that his brain is not sending a signal to his body to breath. This happened during the first study, but not at a frequency of significance. During the second study it happened in a more significantly frequent way. Not a ton, but not normal.
3. Obstructive apnea: This means while his brain sent a signal to breathe, his body didn't respond appropriately. Example, if he didn't stop breathing, it was a short shallow breath. This did not happen in the first study at all; in the second study it happened - not a lot, but again, not normal.

He also missed both the early REM sleep periods in both studies. Random, but not of concern at this point as his later REM cycles were normal.

So, all these "little things" can add up or they might just be random little things that were picked up in one night's sleep.

The pulmonologists view is that while his sleep study is not normal, neither is mito (!) and therefore we should consider options. Anecdotally, she said that after putting a child on oxygen at night, about 80% of mito patients report that their child sees a positive - eg. more energy.

We're not opposed to putting Will on oxygen at night, but before we add another medical "thing" in the house I wanted to really vet out why we should / could / would. We had a good conversation about it and what it boiled down to is Will's heart rate. Having an oxygen tank also includes a pulse/ox machine where we can monitor his heart rate, how much oxygen is in his blood and how his body does or does not respond to having oxygen.

So, we're moving forward with the oxygen and the first step will be to keep a diary of sorts to see if we can spot any trends with his heart rate and the addition of oxygen.

This is one of those, "can't hurt, might help" scenarios in my opinion. Okay, well I guess it could hurt if you have his oxygen saturations crazy high and then he is in danger of an oxygen "overdose" but that's why there are monitors etc.

The part I'm most concerned about is the nasal cannula he will have to wear. He is not into that thing at all. While we will be allowed to clip down the actual piece that goes inside his nose, he is still going to be annoyed with it. That's the other reason why we'll keep a diary. If it's not working or helping I have no intention of putting him through all that stress.

And so begins the process... we'll work with a medical home health group to get the proper equipment, get trained and see what happens.

Pre hair cut Mohawk.

Thursday, September 5, 2013

Dentist & New Boots

I freely admit I have not taken Will to the dentist since he was 2. I just really didn't make it a priority because of all the other appointments and just "STUFF" Will has to do.

Well, I finally bit the bullet. And it was quite the bullet.

So to recap, Sunday - Tuesday we were in the hospital. Wednesday Will stayed at home most of the day, except for speech therapy and some school time. He ended up sleeping at nap time at school and then came home.

First official day of Pre-K. Not into smiling for the camera.

He is wearing a size 6/7 shorts; 48 pounds; 44 inches and size 10 shoes.

Thursday, I had long ago scheduled the Dentist and a fitting for new boots followed by a fun dinner in the Woodlands with family (where his orthotics place is located).

We also had two therapy appointments that were reschedules from the appointments we missed while in the hospital.

The dentist was quite possibly the most traumatic thing I have ever experienced with Will - and we have experienced A LOT. The dentist had everything possible that could distract a child, movies, toys and made the experience as kid friendly as possible. Will quickly saw through all the nonsense they were offering and realized what was going on. He doesn't even bother with accepting stickers anymore. It's like, pfftt, a sticker... please.

This poor guy - a dentist appointment after having just spent time in the hospital with way too much poking and prodding for his tastes. I probably should have rescheduled, but with his therapy schedule and me only taking the first apt of the day (to avoid children in the waiting room and the daily pile up of germs) it would have been months. The hygienist and I agreed to try and go as far as we could with getting his teeth cleaned. That meant me leaving the room because I knew he was using me as a scapegoat.

Watching and listening to him kick, scream and yell for me was impossible. All I could see where his little feet kicking up and down while they basically held him down. Yelling I need a break and them not understanding what he was saying. It was absolutely heartbreaking.

We didn't even get through the entire cleaning, which desperately needed to be done. We have to keep him healthy in all areas including teeth so we don't have to deal with invasive procedures such as cavity fillings. They wanted to sedate him, but that is not allowable with checking in with numerous docs.

I told Neil if I wasn't pregnant it would have been a white wine lunch. It was just too much, but necessary.

They hilarious part, thankfully there was one, once he was allowed to sit up it was like nothing had happened. He was just playing in the room with a firetruck, checking out all the dental tools etc. Like nothing had happened. The hygienist and I looked at each other like what just happened. Total switch flipped.

We soldiered on the rest of the day with speech therapy - he did awesome; physical therapy - it was ok and a special trip to McDonald's where he spilled chocolate milk all over me and him. We went home to change clothes and I decided it was an ice cream kind of day so we stopped for ice cream before driving to his leg brace appointment in The Woodlands.

He was NOT interested in taking photos.

The leg brace appointment went well; we were in the cowboy themed room and ran into another Leigh's friend there too. Will selected the Texas Longhorn themed leg braces. I tried to persuade him otherwise, but he was adamant. Mr. Jason had previously taken Will back to the workshop where they make the boots and Will was anxious to go back again.

So we did. He loved it. His eyes just get big and he gets quiet taking in all the tools. He probably could have stayed there all day. He was promised a special trip back to the workshop when we return in a few weeks to pick up his new boots - the belt sander was a topic of discussion the remainder of the day.

I on the other hand had pretty much had it. I was exhausted from the hospital trip, the emotional, physical and mentally overwhelming dentist trip. His ataxia was over the top which means I follow him around struggling to give him the independence he wants but within arms reach to catch him before he falls. I pretty much cried myself to sleep. It was good to get all that out of my system and I woke up on Friday in a much better place. Sort of.

Friday morning we had an appointment with Will's pulmonologist to go over his sleep study results.... that's a separate post.

Random photo: Will trying on glasses while looking for some new glasses for Daddy.

Wednesday, September 4, 2013

Puking and IGG site

All good times must come to an end... After our fun-filled adventures Will ended up in the hospital with a stomach bug. The Sunday following our adventures we were doing Will's infusion. Sitting on the couch, Will complained of his stomach hurting, had some seriously disgusting gas and was just very unpleasant and overall grouchy. Shortly after we finished the infusion he puked, like everywhere.

Cleaned that mess up and started Will on Gatorade, pedilyte and some chicken noodle soup. That came up about 45 minutes later. We packed up and headed to the ER to get on fluids and avoid dehydration.

Good thing we went because he had 100.4 fever and threw up again in the ER. About 11:30 p.m. (after being in the ER for about five hours) we were admitted to the 10th floor at Children's Memorial Hermann. Will was pooped, but thankfully he didn't actually poop or worse yet have diarrhea all over the place. He also quit vomiting that evening and was able to fluids down.

Daddy dutifully holding on to some water and keeping the Gatorade bottles coming. So sweet, I don't think you can tell in this photo but Will's pinky is on Neil's hand.

We cut our losses in the ER about 11 p.m. and since I had gotten more sleep than Neil over the weekend he went home and I stayed with Will. Neil said it looked like a bomb had gone off in our house, and I'm pretty sure one had. He cleaned up all the nasty stuff and got all the dishes cleaned etc.

Turns out most of my family had a stomach bug within the past week. Even with the immuglobin (IGG) infusion to help boost his immune system this stomach bug still got him.

The following morning (Monday) he was on a clear liquid diet and kept it all down, asking for pancakes and real food. Thankfully the green jello made him pretty happy. We were told that we would be discharged later that afternoon (Monday) and Will was obviously excited.

Not exactly how I thought his first official day of pre-K would go, but whatever...

Empty bowl of green jello

Neil and I were talking up leaving that whole day (ERROR!). We both took him on trips around the floor and got him up and moving so his muscles and body wouldn't shut down any further. They kept him on fluids too and he was allowed to eat solids which we were happy about.

Yao Ming from the Houston Rockets was ultra life size on the wall; Will still ranked pretty high up there on the height chart :-)

Grilled cheese, veggies and chocolate ice cream.

Then the hammer came down... In addition to the stomach bug, his IGG needle site just looked really weird. Nothing like what previous sites looked like before. So after a few consultations in the hospital with his immunologist, she wanted to keep us there under observation to make sure the site wasn't creating other problems. Thankfully all his labs were coming back normal - or at least normal levels for him.

We begrudgingly agreed that it was the best thing. The IGG infusion he is on isn't a "mild" drug - it's very dangerous and any abnormal reactions should be taken seriously. So... we hunkered down.

Neil stayed the night in the hospital with Will and I went home to sleep. I also got the Lysol, spot shot, febreeze, vacuum cleaner and mop out to get all the puke bugs out. I was so glad Neil had gotten the cleaning going because I couldn't have imagined a full 24 hours going by with all that in the house.

So on Tuesday morning the IGG site looked much improved and Dr. Pacheco discharged Will, but we waited around for wayyy to long to get our discharge papers. We even had enough time for music class in the hospital. 

Overall, this hospital trip was easier than ones in the past. We were allowed to leave the room more and he wasn't as sick as he was in the past trips. We haven't been in patient for a long time and if this was our "blip" on the health front I'll take it.

Will had his shades on and was ready to roll long before I had even signed the paperwork. He and Neil were cruising around the floor while I waited in the room. He told Neil, "I don't ever want to come back here." Then very pointedly added, "OKAY?"

However, the ER nurse really butchered up his IV site. They had to do it twice and it was very unpleasant...

Monday, September 2, 2013

Fun Times with Cousins

Will's school was closed for teacher in-service about a week and a half ago so me, Will, my sister Julie and my nephews Carson and Cameron decided to do something fun, new and different. Our schedule was the Art Car Museum, lunch, Houston Fire Department Museum and the Health Museum. Whew!

The Art Car Museum was a quick trip, you're not allowed to touch anything inside but it was fun (and air conditioned). We were in and out pretty quick.

The Fire Museum was a little bit more of the same, but they have a really neat hands on kids area where we spent a lot of time.  It was really fun. They have a front seat of the fire truck - steering wheel, switches, etc. You can actually turn the lights, signals and alarms on. They have another part of the truck with the hoses where you can pretend to put out a fire. There is a fire pole, two story house that teaches you how to build a home fire safety plan etc. They also have lockers where you can put on all the gear - jacket, hats, gloves etc.

The Health Museum was really awesome too. They have a huge hands on area for kids and then there is the main museum area which has different interactive body education opportunities. I highly recommend going. There were kids of all age ranges and it didn't feel crowded. I also drowned Will (and everyone else) in anti-bac goop.

Meltdowns were already in progress so we left quickly and continued the party at my house for dinner, bath time and an early bed time.