An Interview with Colby Wren #KnowAboutMito

Tweet Last fall, Colby Wren hit the front page of  "mito" news when he was interviewed by several news outlets, including the Atlanta Journal Constitution and CNN. He was a baseball player for Georgia Tech, is the son of Braves Manager, Frank Wren, and lives with mitochondrial disease. When I read an article and found him on twitter, I immediately sent him a tweet thanking him for going public with his struggles.

We are big sports fans in this house and I have mentioned our hopes that Klaw will be the best pitcher ever recruited by the Chicago Cubs. When we got the VLCAD Deficiency diagnosis, we were afraid that Klaw would no longer have the option to pursue sports even if he desired it.

Over the past year, I've had the opportunity to get to know Colby better and I'm glad that he can be a role model for Klaw and other kids with mitochondrial disease. Colby's story highlights how different mitochondrial disease an cbe for each person affected and it serves as a source of hope and determination.

Colby took the time to answer a few questions for me to feature on this blog during Mitochondrial Disease Awareness Week:

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1 - Thankfully, many infants & children are being diagnosed with mitochondrial disease. You weren't diagnosed until you were high school. What were some of your thoughts when you got the diagnosis?

Some of my thoughts were how am I going to have to change my life/lifestyle and what am I going to have to give up or start doing differently.

2 - As an athlete, you put your body through more stress than the average person. When you add mito to the equation, you have to take even more precautions to maintain your health and stamina. Describe a typical day with how you prepare yourself for baseball and how you recover.

Well, now I am a student coach at Georgia Tech so I have had to change up my routine. My old routine was wake up for a 6 AM workout and then hope and pray that I had enough time for a nap before my next class. Practice from 3:00-6:30 and do it all over again. Things that helped me and my body recover were proper nutrition, knowing my personal limits in workouts and exercise, and as much sleep as possible throughout the day.

3 - Looking back on your younger self and knowing what you have learned about mito, what were some of the biggest warning signs that are clear with 20/20 hindsight? 

Well my gastrointestinal problems have been apparent since I came home from the hospital. (bad reflux and couldn't hold down food as a new born) I would always get sick always throw up, but since I never truly played a sport that was extremely high intensity until I was in 4th grade I didn't see a lot of the more intense signals and problems occur.

4 - What advice do have for parents of mito kids who are athletically inclined, to the best of their abilities? What should we pay attention to when our children are playing or exercising that a child may ignore because they are having fun?

This is my personal opinion and knowing that each child is different here are some basics that can be applied to a larger spectrum.

1. Know your body and your personal limitations with energy. 

2. Be very careful about heat and hydration. The hotter the days the more water needed and the less activity should be accomplished. 

3. Slowly work into athletics or exercise. Never just jump into things until you have specifically talked with your doctor/physician about what he thinks should be your boundaries and work from there.

4. There is a big difference between pushing yourself physically and being stupid. There are times when a little extra push or energy is okay, but then again it is up to the individual. DON”T try to impress people and end up hurting yourself I have done that many times and it never ends up doing me any good in the long run.

5 - What advice would you give a kid like Klaw who will likely face similar issues that you have dealt with should he pursue athletics?

I would give any kid with the ability and well-being to play athletics to pursue them and just enjoy every bit of them. There are some kids who just hate sports, but if you have the passion or the itch you just have to go for it. Keeping yourself active is not only good health wise it is also good for you energy levels. Whatever you can physically do can help your body and have fun at the same time. It teaches life skills and personal skills that cannot be taught by a book, but by just experiencing it first hand.

6 - Can you give some info in the foundation you work with and how others can get involved?

The Foundation for Mitochondrial Medicine supports the development of the most promising mitochondrial disease research and treatments of the many forms of mitochondrial disease. Formed in 2005 and renamed in 2010, our Atlanta-based non-profit organization financially supports treatment based research. From functional brain MRI studies on cognitive fatigue to testing of new drug compounds, including the first FDA-approved drug treatments that began in early 2010, FMM focuses on supporting Institutional Review Board (IRB) or FDA approved studies. Stated simply: we're funding the cures.

The foundation's stewards and founders are parents of patients and medical experts. We were created to accelerate the development of the most viable mitochondrial disease treatments and therapies.

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To read more about Colby Wren's story, check out these articles:
Son of Braves Manager Battles Genetic Disease (AJC)
Human Factor: College Athlete Battles Mitochondrial Disease (CNN)

Light a Light for Mito #KnowAboutMito

Tweet Each Wednesday during Mitochondrial Disease Awareness Week is set aside to remember the lives that have been lost to mitochondrial disease.

MitoAction

Mitochondrial disease runs the gamut from fairly manageable disorders that have little effect on overall life expectancy to disorders that still carry an overall fatal prognosis. For Klaw, his first year of life was the most tenuous but management of his VLCADD has been successful. He is expected to lead a fairly typical life with continued health management and regular observation of his liver and heart functions, barring any surprises or major illnesses which could throw him into a metabolic crisis.

For others, there is a steady decline in the function on major health systems.  Many children with mitochondrial disease do not survive to reach adulthood. For some adults, a typical, productive life can suddenly take a downturn to debilitating symptoms with little to no hope for improvement.

If you or someone you know has lost the battle to mitochondrial disease, please take moment to light a candle in their memory.

VLCADD Friendly Convenience Foods #KnowAboutMito

Tweet People regularly ask me how we manage Klaw's diet in relation to his VLCADD. He is currently limited to 6g fat per day. Most toddlers should get 40-50g fat per day. As you can imagine, this can make it difficult for us to just pick up something at the grocery store or at a restaurant for him to eat.

In order for Klaw to eat "fun" meals that incorporate a variety of flavors and foods, we pretty much have to cook at home. It's the only way we can guarantee the amount of fat in each serving. However, sometimes I just don't feel like measuring out each ingredient and using MyFitnessPal or another online recipe app to do the math and determine the fat/carbs/protein in each serving.

Sometimes, I just want to grab something, read the label, & hand it to my kid. Chris & I have found a few favorite "convenience" foods that we keep around the house that are low to no fat and that Klaw loves.

Every (non allergic) kid loves a good PB&J, right? Well, not when one serving of peanut butter has more fat than you can eat in a day.  Thankfully, Trader Joe's carries Better 'n Peanut Butter. It has 1g fat per tablespoon. We use that with sprouted whole grain bread, which is high in dietary fiber, high in protein, & low in fat. Our favorite sprouted grain bread is from, again Trader Joe's. Sprouted Flourless Whole Wheat Berry Bread has no fat at all. So, Klaw gets a full PB&J for a whopping 1g/fat.

We don't just shop at Trader Joe's, I promise. Our local Food Lion & Farm Fresh carries many items that are VLCADD friendly, too. Happy Baby Organic Puffs are fat free, taste like cardboard, and great for road trips. Happy Baby also makes some fat-free yogurt drops, Happy Yogis, in a variety of flavors, too. Yes, these snack items are pretty much devoid of nutrients but sometimes non-staining convenience wins. (These yogurt drops do not stain, in our experience!)

Most stores, including Walmart, are carrying the GoGo Squeez apple sauce packets. Apple sauce is, you guessed it, fat free. Yes, it's full of sugar but Klaw burns energy from sugar pretty efficiently. He's a VERY active toddler and he can't burn fat for energy. As long as he's going, going, going, the sugar in applesauce is not a big issue. A few other brands of squeezable sauces are also fat-free, but the GoGo Squeez brand seems to be pretty ubiquitous while we have to make special trips to Babies R Us or Target for the others.

Pasta & marinara sauce is a quick & easy VLCADD friendly meal we frequently cook. However, I don't always want pasta. Gerber Graduates Pasta Pickups make two flavors, chicken & carrot and turkey & vegetable, which are low fat, easy to heat up, and Klaw loves both flavors. We do limit how often he can have these but it makes for a quick, convenient lunch or dinner option. Especially if Chris & I want to have something high fat like pizza or, well, just cheese for dinner.

Pediasure Sidekicks Clear is a "juice" drink box for toddlers. It's completely loaded with the full spectrum of vitamins & protein. It doesn't contain dyes. Granted, it doesn't contain juice, either. However, Klaw pulls the toddler pickiness every once in a while and this drink provides a quick, convenient way to make sure he ingests calories and protein when he refuses to eat a meal. I don't know of any other fat & dye free drinks that also offer protein, so this is the best I could find. Granted, I have no issues giving him Gatorade Prime on occasion, if the situation and energy expenditure warrants it.

We plan for the unexpected each trip each trip, whether it be traffic delays or just an overexertion by Klaw at play. We always have some of these convenience foods tucked away in Klaw's bookbag (our diaper bag) in case he needs a snack or if we just decide we want to go to a restaurant to eat. We can't take it for granted that we'll be able to find something for him to eat on the fly.

Do you have an "convenience" foods you keep on hand for your kids? What are they?

Mitchondrial Disease Awareness Week 2012

Tweet Mitochondrial Disease Awareness Week is September 16-22, 2012. I've planned a week of posts that describe different aspects of mitochondrial disease and how it affects us in more ways than most people realize.

United Mitochondrial Disease Foundation

There are events taking place all over the globe to raise money and awareness for mitochondrial disease, the numbers of which are approaching, if not surpassing, the number of children afflicted with cancer. However, mitochondrial disease is not limited to children. It can affect people of all ages and in many different ways. As research continues, we are finding more connections to mitochondrial dysfunction in illnesses/disorders like Alzheimer's Disease, diabetes, autism, and many more.

If you don't think mitochondrial disease affects you, think again. Every 30 minutes a child is born with mitochondrial disease that will be diagnosed by the age of 10. Each year, more and more adults are diagnosed with mitochondrial disease. As the body of research grows, more and more diseases are showing connections to mitochondrial dysfunction. Chances are, you or someone you know is affected by mitochondrial disease.

Please take this week to learn more about mitochondrial disease and spread awareness to others. The more we learn about mitochondrial disease, the better for all of us.

Please check out last year's Mitochondrial Disease Awareness Week posts.

VLCADD Update #KnowAboutMito

Tweet We recently returned from an appointment with Dr. Vockley at the Children's Hospital of Pittsburgh. Dr. Vockley first met Klaw when he was about 8 months old and wanted a follow up by the time Klaw turned two, earlier if anything crazy happened that was VLCADD-related.

Thankfully, Klaw's VLCAD deficiency has been well managed through diet & supplements and our primary geneticist, Dr. Proud, did not see a reason to visit with Dr. Vockley any earlier.

First of all, it took three people, but we finally got a head measurement for Klaw.  This has been a bit of an issue for the past, oh, year. He is currently in the ~75%ile all the way around in height, weight, & head circumference. (35" tall & 29.5lbs)

Dr. Vockley does believe we dodged a bullet by the early diagnosis & intervention through the expanded newborn screening in Virginia. VLCAD deficiency can involve the heart, liver, & muscle tissue. Infants who are not diagnosed early are at a high risk of death during the first year of life.

Klaw's blood sugar is well-controlled. Even with the illnesses we've been able to manage at home, his caloric intake has remained high enough to prevent hypoglycemia, which is always a concern during any illness.  Our biggest day to day concern now is preventing rhabdomyolysis, which is when the body destroys muscle tissue. The dangers of rhabdomyolysis are not as acute as low blood sugar, but there are many long-term issues if he has multiple episodes over the course of time.  Again, we are trying to stay one step ahead of the game with his diet.

Naturally, Chris asked about how this will affect Klaw's participation in sports as he gets older (he's still hoping for that Cubs gig...). Dr. Vockley assured us he has many older adolescent patients with VLCADD who are active in a variety of sports. We'll just have to be vigilant about keeping Klaw hydrated & ingesting calories. Basically, while everyone else is drinking water or watered down gatorade...Klaw will be drinking the stuff straight because he'll have a higher need for sugar & electrolytes.

There is a new database/research registry being formed at the Children's Hospital of Pittsburgh, so Chris & I elected to have Klaw's records submitted. It's not directly tied to his identity; each case file is given a number. However, if the information can help people learn more about VLCADD, it is worth it.

Dr. Vockley was very pleased with Klaw's progress so far and future visits with him are at our discretion.

Staying Busy

Tweet Well, I just got back from Blissdom 2012 and I'm about to get in the car & head to Pittsburgh with Klaw for a genetics appointment.  Needless to say, between washing clothes & re-packing, I'm a touch busy which means no new blog posts of much worth.

I had a great time at Blissdom and had the opportunity to meet some wonderful people. And nap.  I have quite a few things to share with y'all but it's too much to type up in the 10 minutes I have at my laptop.

Klaw's appointment with Dr. Vockley and the genetics team at Pittsburgh Children's Hospital is just routine. I have no idea if we'll glean any new information or if he will recommend any changes to Dr. Proud (or primary geneticists). I am going to give permission for Klaw's genetic information to be included in a new database for this family of disorders. It's mostly anonymous, each person is assigned a number. I really think it's important to share as much information as possible with researchers. If his information helps find a better treatment or, even better, a cure, it will be worth it.

Well, that's where we are right now. Hopefully, next week I'll be able to sit down and share some exciting news with y'all.

NOT A RESOLUTION!!! #KnowAboutMito

Tweet Soooo...I don't make New Year's resolutions because, seriously, who actually keeps them? I don't like to set myself up for failure.  That's counterproductive to my ego.

Anywhooo...I am contemplating a change. A big change.

No, not a big change like a baby...but a big change, nonetheless.





I'm thinking about volunteering with the United Mitochondrial Disease Foundation as an Ambassador. There isn't a chapter, group, or ambassador in our area. When I contacted them about the nearest chapter, I found out it's in D.C.  That's a really long drive, in case you were wondering.  The nearest Ambassador is over an hour from us & even further from the more populated areas in Hampton Roads.

So...6 months later, I'm considering it.

Technically, my official duties as an Ambassador would definitely utilize my professional skill set. It would require being available to local families/individuals affected by mitochondrial disease to help direct them to resources and information (NOT diagnosis, treatment, or counseling). I would be required to share educational resources with groups like doctors, hospitals, or even hosting a table at local event.  Organizing a local awareness event would also be on the list of things to do.

I have done all of these things in some capacity with previous jobs and they are well within my comfort level.

My concerns lie with the fact that I have a very active & energetic toddler. I can barely find time to blog. I question my ability to hunker down and organize MYSELF well enough to be an effective ambassador for UMDF.  I'm hoping my upcoming trip to Blissdom 2012 conference will help me clarify some of my personal and professional goals.

My other, and probably biggest concern, is that there is a fundraising aspect to being a UMDF Ambassador. I have never been good at or comfortable with raising money.  There is, thankfully, not a specific amount I would need to raise, I'd just have to do some sort of fundraising. My stomach churns thinking about it.

However, even while my stomach churns, I remind myself that Klaw's VLCAD deficiency is being managed successfully through diet and supplements.  For many people with mitochondrial disease, it is progressive and degenerative.  Part of me feels like I have the time (somewhere) and the resources to do this, which means, in my world, I have a moral obligation to do this.

Yes, this is a me, me, me post but it's weighing heavily on my heart and my mind.  I know there are other families affected by mitochondrial disease in Hampton Roads and I love a good cause.  I think I need to get this out in the universe:

Can I do this?

Can I make a difference?

Do I need to just quit stalling and put on my big girl panties?

Slightly related: I publish a #KnowAboutMito online newspaper through Paper.li, if you are interested. It updates daily with links, blog posts, & articles related to mitochondrial disease & genetics.

Mitochondrial Disease Awareness Week

Tweet As Mitochondrial Disease Awareness Week comes to a close, I am finding myself truly in awe of the moms & dads I have gotten to know through Klaw's VLCADD diagnosis.

Klaw has one of the more common fatty-acid oxidation disorders, VLCADD...not that "common" among rare disorders really means a whole lot.  He has, for the most part, been textbook VLCAD deficiency, as far as his blood work goes.  His newborn screening levels were so out of whack, there wasn't really a question about it being a false positive, which can occur.  His follow-up blood work showed clear signs of VLCADD.  His DNA mutation analysis merely confirmed what his specialists were 99.99% sure Klaw had.

So far, outside of the initial newborn screening, VLCADD hasn't thrown us any surprises.  For that, I am grateful.

Well, there has been one surprise.

I have been surprised by the community of families living with the various mitochondrial disorders.  I avoided looking into support groups until Klaw had his first hospitalization.  I was still living the fantasy that Klaw would be asymptomatic and I wouldn't have to worry about all of the extra issues that come with VLCAD deficiency.

I avoided it out of fear.  I was scared to hear what other families have gone through.  I was scared to face the potential for worst-case scenarios.  I was scared to face every aspect of Klaw's disorder.

I'm sure some of y'all that have known me for years find it difficult to think of me avoiding something out of fear (except for spiders); I promise it happened.

However, I'm glad I finally pushed through and I'm sad that it took a hospitalization to make me accept that I might need a bigger support group than just myself.  The mitochondrial disorder & fatty-acid oxidation disorder support groups have been a resource of information, of new studies & treatments, and sometimes just "yeah, been there...you aren't alone" emails.  If there's anyone living with mitochondrial disease, my single biggest piece of advice is to reach out to the support that is out here on the internet.

You aren't alone.

Yes, there are many many faces of mitochondrial disease and many different ways it will affect our lives.  Our experiences are all unique but we can help each other push through the hard times and celebrate the blessings.

This is our face of MITO

I want to thank all of you reading this blog and these Mitochondrial Disorder Awareness Week posts.  Each one of you is another person who is now aware of these rare diseases and can share this information with others.  Early diagnosis, which brings early management, is the best defense we have against mitochondrial disorders right now.

Please keep sharing the information.

You never know who is reading (or listening)...

Remember the Mito Angels we have lost.

Mitochondrial Disease Awareness Week 2011 Guest Posts
The Day My World Stood Still - A father's perspective
LCHAD - A mom's difficulty in getting a diagnosis without the newborn screening
Wish GRANTed - A sister's determination to help her brother
A Great Day - A girl's day to day life with Mitochondrial Disease
He Looks Great! - My post about the dangers when doctors are unfamiliar with Mitochondrial Disease

Mitochondrial Disease Awareness Week: A Great Day

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 Today's post for Mitochondrial Disease Awareness Week comes from Terra, a Mito Mom I met through Twitter.  Terra blogs at www.terratalking.com, mostly about the medical adventures of Kendall, but also about life with the other three sisters, and the crazy things that happen in a house of 5 girls, and one daddy who travels all week. It's rarely a dull moment! You can read more about Kendall's story here, or contact Terra via email at terra@2sisphotos.com.

Please take a minute to read my guest post on Terra's blog "He looks great!"

This is a what it takes for Kendall to have a "great day."

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Have a Great Day!           

How many times have you told someone "have a great day!" or heard from someone "oh - i'm having a GREAT Day!!"? It seems like some things should just be so easy, right? CHOOSE to have a great day, and you will have one! But for so many kids and families affected by mitochondrial disease, having a great day isn't as easy as it seems.

Our daughter Kendall was diagnosed with mitochondrial disease around the time of her first birthday. She had struggled from the first breath of her life with all of the various ways that mito affects her body, and spent almost 2 weeks in the NICU learning how to breathe and eat on her own. She will be 3 in November, and life has definitely been a roller coaster of symptoms, emotions, and good/bad days in those 3 years.

As Dana's post on my blog addresses - "oh they look so great" can be hugely misleading! For many of the children (and adults) affected by mito, looking great and having a good day usually require an inordinate amount of work. I'm going to attempt to walk you through what it takes for Kendall to have "a great day".

First - eliminate any day where the temp is over 80 degrees or under 40 degrees. In the midwest where we live, this leaves about 3 months of the year for "great days". Her autonomic nervous system is quite affected by her mito, and leaves her unable to regulate her temperature, heartrate, respiratory rate, and gastric motility. And it's not just that she doesn't sweat in the heat - it's that her body is literally unable to recognize that it is hot, and it starts literally cooking from the inside out. Within ten minutes of being outside on a hot and humid day, Kendall begins to need interventions to bring her temperature down, calm her heart and breathing, and resetting herself to baseline.

Second - Make sure we have nursing available on any of those days that the temperature is good. Kendall's needs require that we have full time skilled nursing care administered by RN's who come into our house and help do all the "stuff" that it takes to get Kendall out of bed in the morning, function through the day, and get her ready for bed at nite. Having nite time nursing on many nites would also be super awesome, but we just don't get that many hours covered by our state waiver program! without nursing coverage, Kendall often must wait in her bed until I have gotten her big sisters up and dressed for the day, lunches made, breakfast made and eaten, spelling words checked, etc. ad nauseum and on the bus before I can attend to unhooking her, changing her, bathing her, and getting her out of bed.

Third - as referenced above, Kendall requires some pretty hefty interventions in order to even get out of bed every day. She is currently "TPN Dependent", meaning that IV nutrition consisting of a precise mix of protein, carbs, and fats - along with essential micro-nutrients and vitamins - is delivered directly into her veins for 16 hours a day via a "central line", or permanent IV, implanted into a hole in her chest wall, running directly to the major vein in her heart. I know those sound like just some crazy words on a screen, but the reality of having a toddler have a permanent IV coming out of their chest that must be covered, protected, and kept sterile at all times is far beyond what I can ever describe in words! YIKES is about all I can say!

On top of the IV Nutrition, Kendall is also hooked up at nite to a feeding pump delivering special formula directly into her intestines via a "G-J tube" - gastric-jejunal tube. Meaning, a plastic button comes out of a hole in her upper tummy area, and has a long plastic tube threading down through her stomach and into the upper portion of her small intestine, the jejunum. (didn't think you were going to learn so many vocabulary words today, did ya?) Kendall is also hooked up to "continuous drainage" at nite from the "G" portion of that tube in her stomach, because her intestines don't always want to move the food through her GI tract (hence why she is on the IV nutrition, her gut is not working real well at the time being!) - and sometimes that food travels backwards, back up into her stomach. Due to her low muscle tone (hypotonia), kendalls stomach is not real great at keeping the food in there, and so it often tries to travel back up into her esophagus, where it is very likely to either block her airway, or travel down into her lungs as she breathes. She has undergone a procedure called a "Nissen Fundoplication" to wrap her stomach around her esophagus to lessen the risk of this happening, but on nites where her gut function is SUPER bad, it happens quite often. So we hook another tube up to her stomach that has a drainage bag attached to it with the hopes that any food her stomach is trying to get rid of (puke up) goes out into that bag, and stays out of her lungs and airway. But every so often it DOES go into her airway and causes her heart to either start beating real fast to get oxygen everywhere it needs to go, or she just stops breathing altogether (known as an "apnea"). We are alerted to these events because Kendall is also hooked up to a "pulse-ox" machine, measuring the amount of oxygen that her blood is carrying to keep everything functioning as well as it should. And on the nites when it ISN'T carrying enough oxygen or her heart is having to work too hard to get oxygen delivered, she is also hooked up to oxygen by wearing a "nasal cannula".

On top of hooking up and monitoring all of that, her nurses also help change the ridiculous amount of diapers that one would expect from a child getting 5.5 oz of fluid every hour through the nite. Kendall sleeps in a special medical bed which allows us to raise or lower her bed in order to attend to all of her cares needed throughout the nite, as well as to raise the head of her bed so hopefully gravity keeps food out of her lungs and into her intestines.  No cutesy sheets or comforters for her - we need practicality all the way! Hospital blankets and chux pads are her bedding - cause it gets changed at least 3 times a day!

So after all of THAT - Kendall gets UNhooked in the morning, and still has to wear a little mini backpack that holds her IV food and an IV pump that is connected to her central line for roughly another 2-3 hours. It usually comes off just in time for naptime, where she sleeps another 3-4 hours in order to be awake for her sisters coming home from school so that THEN, she has about 4 hours in which to have "a great day". She gets to run around mostly tube free (somedays she has to have the long drainage bag still attached to her stomach in order to alleviate the intense pressure and tummy pain caused by a non-functioning  gut), and just try to be a regular kid, playing with her sisters.

Fourth - in order to be able to "play", Kendall has had to have basic developmental skills taught to her by a team of therapists who comes to our house five days a week to work on various aspects of development. When she was a baby we had to start painstakingly slow, teaching her that she had arms, these are your arms, they are attached to your shoulders, you can move your shoulders to move your arms. We taped her up with lots of pressure so she would stop hyperextending every joint in her body and would hopefully hopefully hopefully realize that SHE COULD move her own arms and legs. And then we had to teach her how to roll over, move by move by move. And she FINALLY learned how to prop herself up to sit the day before her first birthday. Everything Kendall can do now, she can do because of our amazing therapists. She did not get to just wake up one day and decide to play catch with her sister - she had to EARN that skill, work for it, tough through the pain and frustration of using muscles that just don't want to do their job sometimes, and finally GET IT. Therapy has been an intense and huge part of our entire family's experience as we have had to rearrange schedules, miss out on playdates for the bigger girls, and in general be tethered to the house so that Kendall could get the therapy she so desperately needed in order to function "normally", and have a great day playing!

Fifth -  make sure you have all your medicines in order, drawn up, scheduled, and delivered. Kendall is on 10 different meds a day just to ensure that she can breathe, poop, digest food (mostly formula), make new blood cells, break down the buildup of metabolic by-products that get backlogged in a system that cannot properly metabolize food and oxygen into energy, and not get life-threatening infections. Phew. Chump change, right? And this is the bare minimum. As her parents we have purposely made decisions to NOT start many meds that may or may not be of help to her because at some point, the med schedule would take over her life, and we aren't given any guarantees that some of them would even be helpful. We have instead chosen to take her to a chiropractor to hopefully help aid in some of the things that "more meds" would supposedly be doing, with far less side effects. So oh yeah, add in trips to the chiro across town to the med list!

So after ALL OF THAT -  if the stars and planets are aligned, and she isn't gearing up into an infection, or a gut shutdown cycle, or just recovering from an infection, AND she hasn't left the house in a few days or been tapped out energy wise by any other number of factors - THEN you just might get a glimpse of our beautiful girl having a GREAT DAY.

And oh how we hope for those great days. we welcome them and we cherish them and we try to hold on to each one for as long as we can because GREAT DAYS are very often few and far between, and we rarely get more than a handful strung together. Our definition of "GREAT DAY" has had to be adjusted a bit as time has gone on. For now, we will take any day that we are together as a family, at home, not in a hospital room discussing blood cultures and transfers to a PICU. We will take any day that she is able to flash that gorgeous smile at us and throw her head back in glorious laughter. We will take any day that she is able to tolerate a walk to the park in her wheelchair, so she can get out and painstakingly climb the stairs, and feel the wind in her face as she slides down that slide or swings in the baby swings. When you can learn to cherish the awesome simply joys in life, then you truly learn what a GREAT DAY really is.

For us, we know.

It's any day that you're alive.

Mitochondrial Disease Awareness Week: Wish GRANTed

Tweet

 Delaney is the author of today's post.  Her brother, Grant, was diagnosed with Mitochondrial Disease as an infant.  Watching him grow up with this disease and face these challenges led her to starting a Facebook fan page, Wish GRANTed, to help bring awareness to mitochondrial disorders.

This is the story of how a young girl's determination & love for her brother can bring inspire others to stand up and work towards a cure for mitochondrial disease.

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My name is Delaney, and I'm 14 years old. My brother, Grant, who is a twin, has Mitochondrial Disease.  For 2 years, I've watched my brother get sick, and I couldn't do anything to help him. I couldn't really talk to my friends about it because none of them have ever heard about Mito, and I hated going through the explanation every time. Even in school, we spent a week talking about what Mitochondria do, but the teacher had never heard of Mitochondrial Disease.

I felt the need to do something to help and decided to start a Facebook page to explain Mito in a way kids like me could understand it…  something I could tell the people I know to read so I didn't have to keep explaining it…. and a way to spread awareness about Mito, in hopes that more people knowing about it will help a cure come sooner.

I started by posting the link and asking other people to do the same. In one week, I had over 6000 people like the page. That means 6000 people might have learned something about Mito.  This is much more than I ever expected.  We are now doing fundraisers and Grant has a research fund set up through the UMDF.  I never wanted to be the focus of this page, and I am glad to say that I don’t think I am.  The page is spreading because raising a cure for Mitochondrial Disease is worth it.   

A local news affiliate covered Delaney's creation of Wish GRANTed.

Mitochondrial Disease Awareness Week: LCHAD

Tweet Today's guest post is from a friend I have yet to meet in person, Candise. We were introduced on Facebook via a mutual friend, Darby who has guest-posted here before about her son with Cystic Fibrosis and other specialties. Yes, we rare disease moms find each other and stick together like glue.

Two of Candise's daughters have LCHAD - Long-chain 3-hydroxyacyl-CoA dehydrogenase.  LCHAD and VLCADD share some of the same dietary issues, as their list of "bad" fats overlap.  Her eldest daughter was born before the fatty acid oxidation disorders were added to many of the expanded newborn screening programs.  You can read more about them at Life...the good, the bad, and the ugly.

This is the story of Candise's family and the difficulty in diagnosing mitochondrial disorders without the newborn screening.

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Mitochondrial disease/disorders unfortunately do not show up as bright purple spots that scream "Mitochondrial Disease". Most patients with Mito appear normal. This is one of the reasons it is commonly misdiagnosed. My youngest child, Lauren, had the newborn screening that picked up her disorder. She was born with a genetic disorder called LCHAD. She is among the lucky ones who have been diagnosed through newborn screening.

I use the phrase "lucky" loosely.

LCHAD is a metabolic disorder that is in the family of mitochondrial disorders. The defect is in the mitochondria of each and every cell in her body. She will never out grow this and there is no cure for it. Mitochondrial diseases/disorders affect multiple organs in the body and can cause GI issues, developmental delays, Autism, neurological problems, muscle weakness, chronic fatigue, vision/and or hearing problems, failure to thrive, Diabetes, bladder, bowel issues, and more.

Lauren has a laundry list of symptoms and problems due to her LCHAD but without newborn screening most children pass away before the parent(s) even know what is wrong. She has had multiple surgeries, therapies, and hospitalizations.

My oldest daughter, Kadian, is 8 years old. When she was almost 5, she was sent to an Urologist because she would not potty train. After many surgeries, blood work, biopsies, multiple failed trials on medicine,a Cecostomy tube, muscle fatigue, chronic fatigue, and a progression of getting worse she is also believed to have a mitochondrial disorder.

We are waiting for our insurance to approve her muscle biopsy in hopes that it will give us some answers.

1 in 4,000 kids will develop mitochondrial disease by the age of 10, so this doesn't only happen to babies. There are many adults who have been sick most of their life but no one knows what exactly it is till they have a child that has it.

Unless you know someone affected by it, most people have never heard of it....most doctors have never heard of it...or they believe the patient has to be in a wheelchair on a tracheotomy to have it.

Our hope is that everyday people and doctors will learn more about mitochondrial diseases/disorders so that a cure can be found.

Mitochondrial Disease Awareness Week: The Day My World Stood Still

Tweet Thank you for stopping by our blog during Mitochondrial Disease Awareness Week!  Every day this week will feature a post covering different aspects of life with mitochondrial disease.  I hope the posts are both informative and heartwarming.  Living with any rare disease is a challenge and the more information we can share will be helpful to others who are affected.  I hope you will share this information and spread the word about the blog posts.

At this time, there is no cure; we can only treat & manage the symptoms.  Many of the mitochondrial disorders are progressive and since developing additional testing through the expanded newborn screening (heel prick), these disorders are being caught early and often saving & prolonging the lives of the affected infants.

Today's post is from Chris as he details Klaw's birth and diagnosis from his perspective.

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To celebrate Global Mitochondrial Awareness Week, I feel it appropriate to provide the whirlwind of emotions that I was dealing with when I found out Klaw was diagnosed with VLCAD. I have yet to mention it in any of my post thus far.

Anyone with a family who has to travel away from them for an extended period of time knows that it is not easy. That is, unless you don't really like your family and enjoy being away from them. That is not the case for me.

So let me tell you about what my life was like leading up to Klaw's birth and up to my finding out about his disorder.

Dana's due date was March 19th. I had been away from home since January 12th and finally pulled back into port on March 14th for two weeks. Well, March 19th came and went and no baby. I was afraid that I was going to head back out to sea before the baby came. Fortunately for me, Klaw arrived March 28th, the day before I went back out to sea for a few weeks and everything was awesome for those 24 hours.

Klaw just minutes after being born.

 The next few weeks brought excitement and anticipation knowing that I'd get to see my little boy again soon. During that at-sea period, my submarine pulled into another port and I was able to talk to Dana. My boat, as we submariners call it, was scheduled to change homeport to Connecticut a few months later, with Dana and Klaw planning on staying in Virginia for the year that I would be up there. During my phone call, Dana said, and I quote, "I know a way that you can get back down to Virginia sooner." I was thinking great! Of course, I knew there had to be a reason and a good one at that.

That's when everything changed for me. Shortly after I got home, Dana told me that the Virginia Newborn Screening Program had found that Klaw was born with a rare genetic metabolic disorder. I was speechless and didn't really know what to say. I let her explain the details of what she knew. I immediately took action to try to ensure that I got back to Virginia as soon as I could after the boat moved to Groton. Now I did get back, just not as soon as I would have liked.

This was the day Dana told me about Klaw's VLCADD

I'm not normally one for doing research unless it is required. Dana, always wanting to be well-informed (that's a trait of hers I wish I had) had found out a lot about VLCAD, as the disorder was called, through research. Honestly, all I wanted to know was whether or not my son was going to be able to live a normal life, i.e. play sports.

Dana continued to learn more about Klaw's disorder and she continued to teach me. In fact, most of what I know about it is through Dana. I know she hates that she is my only source of knowledge about VLCAD, but again, I despise research.

Well, to wrap this up, I will say that I was saddened about what she told me that April day. I questioned whether or not it was my fault and realized that if it were, I'm not perfect. That last part was a joke by the way.

What I did realize is that no matter how serious Klaw's condition was or was going to be, I love him.

He is perfect to me.

Mitochondrial Disease Awareness Week

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Mitochondrial Disease Awareness Week is just around the corner & I am in the process of lining up several guest bloggers to share their experiences living with MITO. I hope that it will be an informative and thought provoking week. I still have spots available for the week and, if possible, I'd like to feature MITO bloggers during the following weeks. If you are interested in submitting a post, please contact me at ReallyWhatWereWeThinking (at) gmail (dot) com.

I'd also love to hear from all of you what you'd like to know about Mitochondrial Disease. I've discussed & described Klaw's life with VLCADD in several posts, but the fatty-acid oxidation disorders are just one branch in the family of mitochondrial disorders. Please leave your questions in the comments or email them to me at ReallyWhatWereWeThinking (at) gmail (dot) com. There is no question too small, long, or personal.

So, folks, what would you like us to cover in the coming weeks about mitochondrial disorders? Has your life been touched by mitochondrial disease in some way?

finding hope through blogging

Tweet  The Summer Blog Social continues...

I might get a little touchy-feely and there may be some triggers in this post.  I apologize in advance.

Blogging and, eventually, Twitter have been a small blessing in my life.  When Klaw was first diagnosed with VLCAD deficiency, I made the very dumb mistake of using Dr. Google to find out more about  VLCADD.

D. U. M. B.

I read lots of stuff.  Lots of clinical stuff that didn't mean a whole lot to me but there was one key point that stuck out to me.  In fact, all my postpartum brain could comprehend from everything I read was that Klaw would not live past 6 months.  Sounds pretty severe, huh?  Well, the reason for this is that the information about VLCADD (especially online!)  is so incredibly limited that a lot of the published studies are centered around the post-mortem studies that led to the "finding" of fatty-acid oxidation disorders.

My postpartum brain got stuck on the worst possible scenario.

There was, however, one tiny shining light online amidst the clinical negativity.

I finally found one blog...ONE BLOG...about a toddler with VLCAD deficiency who was doing just fine (Landon's Place).  That gave me hope and hope is an incredibly powerful thing when you are facing a life long disorder with your child.  That one blog gave me the courage to look for more blogs. I needed to see babies, toddlers, children, adults living with VLCAD deficiency and doing fine.

I found what I was looking for and more, but it took a lot of effort.  Once things got settled with Klaw and his health, I knew I wanted to make it easier for other parents.  This helped me develop a side-road for my blog.  A secondary purpose that's, in my opinion, even more important than chronicling the various thoughts & ideas that come into my head.

I found more blogs about fatty-acid oxidation disorders. I found blogs about mitochondrial disorders. I found real people living with these disorders daily. Yes, there is plenty of sadness to go around in this group but there is so much hope.  These parents openly share their struggles, their findings, and their joys with the rest of us...if we are lucky enough to find them.  There's rarely a set way to treat these various disorders, so parents are often the first line in sharing new information, new trials, and new treatments with others.  Finding these families is like finally seeing a lighthouse when you are lost at sea.  Hope.

Finding hope through blogging & Twitter connections is the single greatest thing about social media.

How have you used social media like Twitter, Facebook, or blogging to connect with people?

Waxing philosophical & other stuff

Prompt 13: What 1 aspect of blogging and social media is your favorite? Least favorite?

VLCADD, the heat, & Klaw

Tweet I have been very nervous about exposing Klaw to too much heat, thanks to his VLCAD deficiency (very long-chain acyl-COA dehydrogenase defiency).  Any situation that causes his metabolism to crank up can potentially be dangerous.   Since the VLCAD deficiency prevents his body from metabolizing very long-chain fats into energy, it's extra important to make sure he remains hydrated and has enough carbohydrates and proteins in his system to burn for energy.

To facilitate keeping him cool in the hot summer south, we have annual memberships at both the Children's Museum of Virginia (Portsmouth) and the Virginia Living Museum (Newport News).  Both are great spots for kids and families and provide ample indoor space for Klaw to run.  Both places have lots of buttons to push, too.

I grew up running around on the beach all summer long and it's something I want Klaw to experience, too.  However, I've been fearful to attempt it, especially during the week when it would most likely just be the two of us.  Yes, his health has been good overall.  Even his hospitalizations were not caused by his VLCAD deficiency, even though VLCADD was the reason hospitalization was absolutely required.

It's still scary.

It's scary to have to always worry that your child might get too hot, go into metabolic crisis, and die.  I know that sounds melodramatic but it's what is always in the back of my mind.

However, I can't and I won't live in fear - at least, I won't let him live in fear.  He's a toddler and he needs to have fun.  We just need to prepare for any possibility and continue to stay one step ahead of his VLCADD.

Mom, KriKri (my niece), and I decided to go to Jekyll Island for a beach trip.  I packed a cooler full of water, Gatorade Prime, cut fruit, jarred food, & applesauce.  Yes, I gave Klaw Gatorade.  This particular one is full of glucose, sucrose, & b vitamins.  Although most moms of toddlers would like to avoid that much sugar with their toddlers, it's exactly the high carbohydrate solution that could help prevent a VLCADD related metabolic crisis.

Mom rented an umbrella, which is smart for anyone but it was a really good idea for Klaw so that he could have a shady spot to stay cool and out of the sun.  The water temperature was perfect and, thanks to some haze and a decent breeze, it wasn't too hot.

After he got over the initial 20 minute screamfest driving over there, we had a blast.  Klaw spent time digging in the sand under the umbrella and playing in the water.  I got a good reminder as to why I do not want a pool at my house when he dove face first into the ocean without hesitation. KriKri was a great big cousin and played with him the whole time.

I made sure he had his Gatorade available and that he snacked on some applesauce while we were there.  It was actually really difficult and I felt like he wasn't getting quite enough fluids or food for me to be comfortable.  He ate almost a pint of fresh fruit when we stopped for sandwiches on the way back & finished his Gatorade, so I'm afraid my instincts were right.  I'm not really sure what I can do because he just didn't want to be distracted from fun in order to stop & eat.  I know (hope) this will be easier when he's older and can understand why he has to stop playing and eat or drink.

However, he was no worse for the wear by the time we got home and he was worn out!

Have you ever had to make a toddler eat or drink?  Do you have any tips you can share?  Do any of my more experienced Mito Moms (mitochondrial disorders) have other tips for surviving the heat with our kids' special needs?

VLCAD Deficiency Update

Tweet Klaw had an appointment with his geneticist, Dr. Proud, and the 12 month well-check with his pediatrician this week. Our big boy is 25lbs and just over 31" in height.  His weight has been holding steady for several months now, so he's long & lean.  He is also ridiculously strong...but that's just a personal observation of mine.

Klaw recently had pneumonia...and didn't have to be hospitalized. This is a pretty huge milestone, even though it's not in any development charts. None of his previous hospitalizations have been for issues caused by VLCADD, but his VLCADD is what made hospitalization necessary. The average child would have been treated at home for the same illnesses.

Dr. Proud told me, and I quote, "You can calm down now, Mom."  Now that Klaw is a year old, he has enough glycogen reserves to sleep through the night & go longer between feedings, in general.  Now, Klaw has been sleeping through the night since he was born.  It sounds awesome, but it's not when your kid has an FaOD.  Just because he was sleeping through the night didn't mean we were.  These past few days have been the first days since his birth that he didn't require at least one feeding during the night.  A feeding he slept soundly through almost every single time.  Lucky kid.

Anyways, back to VLCADD:

Assplosions & Immunology Appointments

Tweet First of all, the past 12 hours in our household have been ruled by Murphy's Law.  

Blogs, Blogs, & More Blogs - Sunday Funday

Tweet Well, folks, I found YET ANOTHER way to get the word out about VLCADD!  Carri over at Adventures in Mommyhood has started a "Sunday Funday" blog link-up.






Basically, you just pick a favorite blog post of yours (or someone else's) from the week, add it to Carri's Sunday Funday list, and post the button above so that other people can find the list, too.  I kind of cheated...it's supposed to be your favorite blog of the week...but...c'mon...VLCADD is so important, My Latest Project deserved some extra attention.  (It looks like Carri agreed because she let me get away with it, thankfully!)  I'll stick to the rules better in the future...

Now that we are home from camping (don't worry - Chris is working on a post about the weekend's misadventures), I finally got around to fulfilling my part of the Sunday Funday bargain.  So, please take a moment to visit Adventures in Mommyhood and check out the other blogs that are participating!

My Latest Project!

Tweet When Klaw was first diagnosed with VLCADD, I was, as you can imagine, shocked and in a state of disbelief and denial for a little while.  I was given the basic informational websites so that I could get a feel for what having a child with VLCADD meant.  I was discouraged from doing too much searching around on the internet and with good reason, I might add.  Naturally, Dr. Google was available so I looked to him for answers.  What I wanted to know was how other parents were dealing with VLCADD and similar diagnoses.

Genetics Appointment

Tweet Geez...today was a long day!  Four hours total with the genetics counselor, dietitian, geneticist, & lab.  Klaw missed his morning nap and GOODNESS GRACIOUS it was obvious.  I think he finally showed Outpatient 2B his temper.  Of course, they still think he's adorable.  He is.