Off to Learn....& Worry

Just a little.

Year before last, a friend asked me to co-lead a new support group here in Dallas for those with Mitochondrial Disease. I was hesitant, only because my life is so unpredictable and I didn't want to commit to something I could not follow through on. She talked me into it....and if I am honest, I am glad she did.

She has the youth and hope to make this happen.....I have the age and experience to know how tough it is to make one work here.

I have been down this road, a couple of times now.

I have theories why it's a difficult endeavor for this location, but there is no question it's needed. We just need to be clever enough to make it happen and be successful, in whatever form it might take.

Each year, the United Mitochondrial Disease Foundation holds a symposium in different parts of the country. Some of the top doctors and researchers in the field of Mitochondrial medicine convene in one location to share information with the scientific community for 3 days, and then the families for two.

It has only once been in this part of the country, in 2002, and I was there for that one. It's the only one I have attended, but can say, it's a pretty remarkable experience, and an awesome way to learn more about this disease we are living with.

With a new group here, the UMDF offered us a scholarship to be able to attend this year, to have the chance to learn more, to network, and hopefully find some ideas on getting this group going. I could not have done it without them covering my travel costs, and I am incredibly grateful!!

In all honesty, I don't love leaving town without my crew. I worry a little that someone will get sick and I won't be here to manage it. I worry a little that I will miss some moment, or that we could have created some together had they been able to come with me. Needless to say, I worry a little. And I miss them....a lot.

I have two of my three "acting up" some medically right now, and this makes me, well..... apprehensive. However, I am leaving them in awesome hands (thanks Mom, Michael & Stephanie!!), and I just have to have some faith that this is meant to be.

I am slowly warming up to the idea of three days on my own ;-) (but seriously, way more slowly than I think I should be....LOL)

Please say an extra prayer that my family behaves while I am away.....that my brain can stay engaged enough to learn as much as possible....and that I can get there and get back with no complications!! I fly out tomorrow, and get back at noon on Sunday, just in time to celebrate the man I love.

I am officially declaring that I take NO responsibility for what my crazy family may do while I am away!! You have been warned!!!

The Faces of Mitochondrial Disease

To close out Mitochondrial Disease Awareness Week, and perhaps start a year of discoveries that might make a difference for this population, Abby created this awareness video with the help of our friends, who shared their heroic children with us. Take a moment to learn more. (having trouble making this IPhone friendly...forgive us!!)

http://www.youtube.com/watch?v=CJUiQpnyHms&list=HL1348412237&feature=mh_lolz

 

These young people face daily challenges that are difficult to even imagine.  They do it with incredible grace and courage. They do it because they maintain hope that someday there will be treatments that will make their day to day lives easier and more comfortable.

 Some people never met their Heroes......I gave birth to mine, and have been blessed to meet so many others. 

*Courage*

Courage

Noun:            1. The ability to do something that frightens one.

                      2. Strength in the face of pain or grief.

A few weeks ago Madison had an appointment with Hematology at Children’s to discuss options for treating her anemia, and while the appointment was a bit of a bust, one aspect of our morning there was very good.

As we sat in the small room doing Madison’s vitals she noticed a poster on the wall and was intently studying it, trying to figure out what it was about.  Before I even realized what was happening, the nurse asked her if she was a part of the “Beads of Courage” program and upon realizing that Madi wasn’t, she insisted we needed to get her “hooked up”.  We left the little room with what I think is going to be the start of something pretty awesome.

I had heard of the program, and thought it sounded neat, but didn’t fully grasp what it was about or, more importantly, the impact it might have on my children and I. 

It is sometimes the simplest of things that make me stop and think….really think.

From www.beadsofcourage.org:

Every bead tells a story of strength, honor and hope.

What is the Beads of Courage Program?

The Program is a resilience-based intervention designed to support and strengthen children and families coping with serious illness. Through the program children tell their story using colorful beads as meaningful symbols of courage that commemorate milestones they have achieved along their unique treatment path.

Telling the story…..tangibly!!  This, in and of itself, is an amazing concept, no matter the age of the child.  We talk about “owning” what our lives are around here all the time, as in that the kids have to own their treatment plans for them to work….they have to “buy in” if its going to have a chance to be successful….and while this was easier in some ways when they were little and much less involved, it is at the same time easier now that they can play such an active role.  This concept extends to all areas of our lives, but the truth is, “owning” something is easier when there is something tangible to attach it to.  So this part of the concept of Beads of Courage (BOC) feels really good to me.

The bigger revelation though, for me, was the idea of honoring, piece by piece, the kids strength, honor and hope.  RECOGNIZING all the things they do and get through, and not taking for granted that they will, or just should.

I am SO guilty of this….

After hundreds of blood draws, I expect them to just deal….It’s “just” a blood draw after all.  After so many doctor appointments, I expect them to handle what’s being talked about (with as much forewarning as I can give them) and “keep it together”.  After so many times being put under, going through a procedure, having their g-tube changed, etc., I just expect them to get through it unscathed. 

I realize that, in part, this is how I cope with putting them through it all.  Allowing myself to recognize how these things truly could affect them was too heart breaking and other than telling them I am proud of all they get through, there isn’t much more I can offer.  When they were little I could “reward” them for getting through some of these things, and in those early days, a Beanie Baby from the hospital gift shop was the ticket.  As they got older and endured even more, the “little” things like getting through an appointment with good behavior was no longer something I acknowledged, just expected. It needed to be something more, like a blood draw or anesthesia for them to be tangibly rewarded.  At some point, even those things were so commonplace that they were no longer considered significant, and besides, as the kids got older, the things that once gave them a goal to work towards (getting something), no longer held much worth to them either.  Oh sure, the promise of cash helped some, but the reality is/was, rewarding them had lost its charm and really wasn’t needed anymore.  They were giving their best just because, and I have grown to expect that.

I love that the idea behind this program is not to “reward” them doing something the way we want them to, but to ACKNOWLEDGE that they got through something….that they were courageous in facing their challenges that day, that they are strong each and every time they are enduring these things, and that we HONOR that courage and quit taking it for granted.

For me, it goes even further in allowing me to RECOGNIZE that courage. That its tangible, something we can put our hands on and see, that those in their care can SEE their story, and that they have the chance to tell their story fully, well….I think it has amazing potential.

The simple concept behind this program has changed me.

It has made me realize that I wish I could go back on some things and handle them differently….and not in a guilt inducing way, but rather, in a way that instills in me the desire to remember and make different choices next time.

I wish I could go back and deal with Madison giving herself a shot weekly differently.  It HAD to happen, and while it broke my heart to see her scared and upset about it, especially after handling it for so long without a peep, I wish I had stopped and acknowledged more how courageous she was to get through it each and every time.  I won’t ever take her composure for granted again, and I will acknowledge her bravery in the face of something like this.

I wish I could go back and handle Abby’s emotions in the midst of doctors appointments differently.  The good news is, I did this last week when we had a GI appointment.  Instead of asking her to “keep it together” till after the appointment and then we could discuss it, I shared with her that we all want her to express how she is feeling about potential treatments and that her emotions are legitimate, but the calmer she could be while talking to the doctor, the more her feelings could be expressed and considered.  She was AMAZING in that appointment…her precious voice cracked as she started talking, but she took a deep breath and finished strong, and the doctor listened!!  She will always be the one wearing her emotions on her sleeve, but she will also be an incredible advocate for herself when this is all said and done.

I don’t want to hang on to the things they have to get through daily, but I DO want to meaningfully acknowledge their courage in the face of the exceptional life we lead, and I think we have found a way to do that with this program…..and I am grateful!!!

A little more about the program….while it started as an oncology program, it has now grown to include several different diseases, as well as most recently, Chronic Disease, which is where we fall for the purposes of the program.  And while it is hosted by only a couple of handfuls of hospitals in the country, they have created a “Distance program” for those that are not affiliated with, or don’t fall under the auspices of their program locally.  While all of the hospitals we have affiliations with are involved, we haven’t had the chance to be included just because we didn’t quite fall into their criteria, so the distance program is ideal.

Finally, YOU have a chance to be involved…..

If you’re a family dealing with illness, I encourage you to look into the program.  I am seeing the impact it’s having on my “big” kids, and have seen others with smaller children that really get something out of this also.  Even if you choose not to participate, I hope sharing my story will help others take the time to acknowledge ALL these kids face daily, and not take their amazing courage for granted.

If you’re an artist, there is a role for you also, making beads for these amazing children.  There is more information at the website if your interested in participating in this way.

If you would just like to contribute monetarily to the program, that option exists also.

And finally, even if all you do is share this with a few people, there are families out there that could be so incredibly blessed to know the program exists.

Thanks for letting me share my excitement over this perspective changing program!!!

I promise an update soon.  Things are busy and kind of crazy here, as usual.  As I prepare for us to see our local Epileptologist we haven’t seen for a year, I suspect what all has changed will become even clearer to me, and this may not be pretty.  We are okay though….getting through each day and living by the mantra of taking things one day at a time and making it the best it can be.

Wrapping up….Mito Fact A Day: Day 15-30

As sometimes happens, my direction this month changed a bit as it progressed, and at some point I got away from doing my “Fact A Day” on Facebook.  However, having already compiled the list, it made sense to finish this month with the rest of them.

15.  When Mitochondrial Disease comes into your life, everything changes.

16. Mitochondrial Disease is often an “invisible disease”.

            -Good Day: Patients look fine & healthy. They have more energy and appear rested.

            -Bad Day: Patients appear tired to significantly ill.

Repeated “bad days” often leads to decompensation & difficulty returning to baseline. ~mitoaction.org

17. Mitochondrial Disease is unpredictable. Day to day, hour to hour patients can develop symptoms and their stability can be threatened. ~mitoaction.org

18. The first case of mitochondrial disease was diagnosed in an adult in the 1960s and in the pediatric population in the 1980s. ~gmdaw.org

19.  Recent research results indicate that mitochondrial dysfunction is a large factor in degenerative disorders of aging like Diabetes, heart disease, Parkinson’s and Alzheimer’s.

20. Mitochondrial Disease is nearly as common as childhood cancer.

21. There is little federal or state funding to support Mitochondrial Disease.

22. Mitochondrial Disease is generally considered a progressive, degenerative disease.

23. The mortality rate can be as high as 50% per year for the most severe forms of the disease.

24. Simple things become monumental when you have Mito.

25. Medicine and machines become a regular part of daily life for many with Mito.

26. Many Mitochondrial Disease patients go undiagnosed and, as a result, the patients and their families suffer.

27. It is precisely the combination of “newness” and diagnostic difficulty that works against the recognition of Mitochondrial Disease and finding an effective cure.

28.  Every day is a marathon for the body of an individual with Mito.

29. The consequences of Mitochondrial Disease can be devastating to those afflicted and their families.

30. There is no cure……yet.

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The WishGRANTed Page  still needs your likes.  Miss Delaney is SO close to reaching her goal of 10,000 likes for this month….please share the link and help make it happen.  Just imagine, something as simple as liking this page means everyone on your friend list is made just a little more aware of this disease.

http://www.facebook.com/wishgrantedproject

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Just received this in my email this morning…..

Please share!!!!!


Support UMDF on The Pittsburgh Foundation's "Day of Giving" on October 4, 2011



You can help the United Mitochondrial Disease Foundation raise valuable matching funds from 
The Pittsburgh Foundation on Tuesday, October 4th when you make a credit card gift to UMDF through the www.pittsburghgives.org website.



The Pittsburgh Foundation has designated October 4th as a “Day of Giving” and for a 24-hour period will provide matching monies to gifts given through “PittsburghGives.” The website --     

www.pittsburghgives.org -- was developed by The Pittsburgh Foundation to help donors learn about the mission, programs, leadership and financial information of some 400 nonprofits like UMDF.



Please remember that the matching period is Tuesday October 4, 2011 from 
Midnight to 11:59:59 p.m.



You will have 24 hours to give! All credit card contributions on the “PittsburghGives” site during this period will receive a portion of the matching dollars.


All are welcome to make a gift; you do not have to be a Pittsburgh or Western Pennsylvania resident to participate. To help UMDF raise matching funds you must go to www.pittsburghgives.org www.pittsburghgives.org  -- follow the directions, and make your credit card donation of 
$25 or more to UMDF on that site.


Thank you for your continuing generosity.

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Thanks again for all that have helped us raise awareness this last month!!!  We love you and appreciate your efforts more than you can know.  Each action does make a difference!!!

What Now?

As Mitochondrial Disease Awareness Week comes to a close, I am left with the very real question of, “What now?”.  I have to be honest and say there is a part of me that’s glad to know the overwhelming reminders will die down (see my last post), but logically know that one week is not enough.  One month isn’t either. 

It’s been amazing to see the efforts being made by so many this month to get the word out….hard, but amazing at the same time. 

The Wish GRANTed Project page on Facebook, started by a friends daughter is a mere 1858 fans away from their goal of 10,000 for this month.  Please visit and help them reach this amazing goal!!  I shared the link to the news piece about this awesome family before.

The regular informative posts on Facebook by so many, the green profile pics, green blogs, awareness ribbons online and in real life, green porch lights…..all of it gets people asking questions and spreads the word about this devastating disease.

But it just cannot end here.  This has to continue, on some level, every day. 

I am working on a few ideas and will share them as soon as I get them to congeal in my brain.

In the meantime, I leave you with the poignant Facebook status of a friend….

“As mitochondrial awareness week draws to an end today, I want to thank everyone for their support! Remember, you may not have to hear about it daily until this time next year, but there are TOO MANY that live it daily. This week alone FOUR mito warriors age 7 months, 4 years, 7 years, and 16 years lost their battle with mitochondrial disease. As many of us were shouting out about AWARENESS & CURE, four families were whispering heartbreaking goodbyes. Please continue to hope & pray for a cure. Thanks again for all your support!”

Awareness…..hurts?

As we come to the end of Mitochondrial Disease Awareness Week, I realize that I have “hit a wall” and that my heart is so very heavy today.  I’ll even admit to shedding a few tears, something I am not brought to easily.

The reality is that raising awareness does something more than make others aware of the disease and the costs, emotionally, physically and financially it brings….it forces those of us in the trenches to be even more aware than usual.

Here is the thing….I KNOW my kids have mitochondrial disease.  I KNOW what it means and all the statistics and information that exists out there.  It’s my job to know.  I KNOW too that without more awareness, this slow train we have been on to finding treatments and a cure continues to move too slowly.  I get it and I know it, and my “job” this week was to share it with those that don’t know it.

However, in the process, I was plunged into the heart ache of it all….again.

I don’t….really I cannot….live in the heartache all the time.  It’s there, always, but I can make it stay in the background.  I can make each day the best it can be, and all that jazz.  But that’s a whole lot harder to do when you’re trying to bring awareness and in the process, are being made even more aware than usual.

Today was the year anniversary of losing a little boy named Samuel to this disease.  We had the privilege of meeting Samuel a couple of times and he was precious.  It seems implausible that he is gone, much less for a year now.

Over the course of this last week….and I have no doubts this was part of when the wall started going up that I was doomed to run into…..in the small community of mito families that I have interaction with…..FOUR children have passed away due to this disease.  I didn’t know the families, or anything about the kiddo’s, but others that I do know did.  It’s difficult to wrap my mind around the statistics that this would lead one to if I took the time to extrapolate it out.

This last year, since Samuel passed, has been a rough one for our little community.  Too many children have died from this disease.  One is too many.

I went to a seminar with my mom last night in East Texas. It was about how to cope with having a chronically ill child.  It was led by a social worker who did a good job of covering the topic, and while there was nothing that I hadn’t already heard, as I told my mom, it was a good reminder of some things. Taking care of myself….asking for help….things I am good at forgetting/ignoring/avoiding.  Miss Social Worker picked up on that real quick….and I hadn’t even said much of anything!!! LOL  I didn’t say much really….even in the middle of a group of families that have a chronically ill child I don’t fit in.  Even a quick introduction leads to wide eyes.  I sometimes dream that I find some person that can be a support for our family…someone trained to guide us through….someone to remind me of those things I so easily forget, who at the same time can understand why those things are so impossible sometimes.  Kind of have come to the conclusion that person just doesn’t exist, not really, and then remember how blessed I am to have the family and friends that I do.  I  don’t feel un supported, just wonder sometimes if we are really coping as well as we seem to be, and then chuckle at the idea that anyone could really evaluate that with this family.  Exceptional indeed.

I am in the process of purging my house right now, and my goodness it’s been an emotional journey in some ways.  Today I ran across some cards that Michael had sent the kids and I during one of our extended trips to Houston for care.  He doesn’t send a care package every time, but when our trips are extended beyond a week or so, in his missing us he tends to find little trinkets and cards to send us.  It is amazing and makes me love him even more every single time.

So I ran across the cards, opened and read them again, and smiled.  It was a good feeling, and then it occurred to me, that as much as I will always cherish those mementoes, it’s just wrong that the kids and I are away so much that a care package is needed. 

The social worker talked about the stages of grief last night.  Today I wavered between anger and disbelief.  I haven’t been “there” for a while.  It hurts.

Sometimes, as needed as it is, creating awareness….just hurts.

(Posting this before I change my mind.  Its real…..that’s all I can think to say. Tomorrow is a new day)

Thanks to all that have worked so tirelessly, this week and always, to raise awareness of Mitochondrial Disease…..my family thanks you for doing what we cannot always do effectively.  Thanks to our friends and family that have joined us this week in raising awareness, in whatever way you could.  We love you.  And thanks to all for allowing me to get this out….to say it and let it go (I pray).

30 Things About Living With Mito You May Not Know

While I originally wrote this in 2009, so much stays the same.  I have updated/clarified where needed to bring this to where we are in 2011.  This list of questions was passed around on Facebook that year for Mito Awareness Week, so feel free to use these questions to share with your friends and family too.

Monday, September 21, 2009 at 1:56pm

In honor of Mitochondrial Disease Awareness Week, here is our list......

1. The mitochondrial disease our children are affected by is: Mitochondrial Encephalomyopathy, Complex I & IV (mtDNA)

2. Our children were diagnosed with it in the year: Chance & Madison have had a “Presumed” diagnosis since April 2001 (age 7 & 4 ½ respectively). Abby gained the same “Presumed” dx in 2003 (age 4 ½), but we only found our genetic confirmation in April 2008. So, at confirmed diagnoses, Chance was 15 yrs old, Madison was 12, & Abby would have been 11. It’s not unusual for it to take years to find a diagnosis….and realistically, most never do find out their genetic mutations like we did.

3. But they have had symptoms since: Madison has been affected since birth (really in the womb), while Chance & Abby did not really start to show symptoms till they were about 3 years old.

4. The biggest adjustment our family has had to make is: I guess it’s the constant need to adjust to our “new normal” because the kids’ baseline changes so regularly, as do their needs. It is also, no doubt, coming to terms with a devastating disease with no cure and little treatment.

5. The mito gene our family has is: The kids have both mtDNA 4216 and 9438 (both associated with a type of Mito called Leber’s Hereditary Optic Neuropathy) and additionally a suspicion that they all three also have a nuclear gene mutation/s that are causing replication errors in the mtDNA which would explain the very high number of polymorphisms the children have.

6. I explain mitochondrial disease to others that inquire by: Sharing that all our cells, except red blood cells, have mitochondria in them. It is in the mitochondria that what we eat and the air we breathe is converted into a chemical that the cells can use as energy. When there is a mitochondrial disease, this process is disrupted and not enough energy is able to be produced to allow for most body systems to function properly. Any stress on their systems has the potential to cause devastating results.

7. Most people assume: Our children are normal and healthy because “they look so good”. We are, and always will be, incredibly grateful that we have been able to keep them looking so good, but live daily with the knowledge that internally so little works the right way. It’s impossible to explain that they “look so good” because we have worked so hard to keep them as stable as possible.

8. The hardest part about mornings are: Getting up and getting moving. The kids minimally need 12 hours of sleep, and sometimes (like now) are averaging closer to 14. It just feels like we lose our mornings sometimes!!

9. The hardest part about nights are: On those nights when the kids have a hard time getting to sleep…not because they are not exhausted, but because their bodies hurt or their brains won’t settle.

10. Each day our children take: 98 doses of medication/ supplements….This year to date they have had 83 medical appointments with 23 specialists, 138 therapeutic appointments, 29 tests, 4 ER visits, 2 surgery’s, 10 days inpatient, and 4 anesthesia’s.

UPDATE I don’t have it in me to figure all these numbers for now, just know that it’s more than then.  In addition to medications, all three are now on oxygen.

11. Regarding alternative treatments we: have been able to see a chiropractor for several years, the kids do therapeutic horse back riding, and Chance & Madison receive massage therapy weekly.

UPDATE While we are not seeing the chiropractor these days, we have added aquatic therapy, acupuncture, bio-feedback, visual imagery, self hypnosis & counseling to our arsenal.

12. A mito-related organization I support is: Mito-Action and the United Mitochondrial Disease Foundation

13. Mitochondrial disease affects our children’s education by: They are unable to attend school and we have been home schooling for 7+ years now.

UPDATE  This is one of the harder updates to give….while Chance is doing exceedingly well now, Mito impacted his early education hugely and we are still playing catch up…grateful we CAN play catch up, but it’s still hard.  My sweet Madison is struggling and has been for 2 ½ years academically due to the profound fatigue and recurrent illness she has been dealing with due to her mito.

14. People would be surprised to know: That most dealing with chronic illness will tell you that it is not the illness that wears them down, but all the peripheral needs that go with it. Hours are spent on the telephone arranging things & correcting errors, calling in and picking up medications, dealing with insurance & collection companies, getting appointments made and having appropriate records sent, and just waiting for doctor’s offices to call us back.

15. The hardest thing to accept about mitochondrial disease has been: The uncertainty that comes with every day. The blessing is that we don’t take a single day for granted with our precious children.

16. Something we were never sure our children could do with their illness that they did was: Summer Camp this summer!!!! Had the time of their lives and it was truly an amazing blessing!!

UPDATE Thanks to so many precious people in our lives, the kids have continued to be able to attend summer camp, with this last August being their third year.  Chance has been an assistant counselor for two years now, and all three grow so much each year they are able to attend.  Camp Korey has been a life changer for all three!!

17. The awareness about mito: Is incredibly lacking, even within the medical community. Efforts are being made, and compared with awareness 8 years ago when the kids were initially diagnosed, it has improved tremendously…but we have such a long way to go.

UPDATE While awareness continues to improve, the process is painfully slow. The reality is awareness is the key to finding treatments, and we need those so desperately.

18. Something we really miss doing since affected by mito is: So many of those typical things we as parents dream about doing with our children as they get older. Chance not being able to drive this year was harder than we realized it would be, but we are still hopeful!!

UPDATE While Chance is still not driving, we have all adjusted to that normal pretty well.  I think at this point, I most miss some kind of predictability to life, and being able to be and do something other than medical.

19. It was really hard to have to give up: Getting outside during the summer months when it is too hot….although, it’s definitely harder on us grown ups than the kids, I suspect because it’s all they have really ever known.

UPDATE After this summer from heck we have had, this continues to be one of the hardest things we face.  And while it was once an issue for the “grown ups”, the kids are there now too.  We long for our days in Seattle for Camp Korey because we know we can be outside as much as we want.

20. A new hobby they have taken up: READING!! All three are loving it and let’s face it, what an incredible escape!!

21. If they could have one day of feeling normal again they would: I suspect they’d want to attend school, even if for just a day.

22. Mito has taught us: First and foremost that life is short and no day should be taken for granted. It’s taught us grown ups patience and fortitude, and I suspect it’s taught the kids about compensation…..whether finding ways to do things their bodies won’t allow, or finding ways to interact with others when it’s been a challenge, or some days, just finding a way to get through when they feel like crud.

23. Want to know a secret? One thing people say that gets under my skin is: “But they look so good!” and as of late, “We never see kids with mito your kids ages.”

UPDATE At some point I was able to take this first one off the list of annoying things people say….I now just respond with a thank you for recognizing all our hard work!!

24. But I love it when people: See beyond the kids issues and see how incredible their soul’s are.

25. My favorite motto, scripture, quote that gets me through tough times is: “Life is not about the breaths we take, but the moments that take our breath away.”

26. When someone is diagnosed I’d like to tell them: To take a deep breath and then learn all you can. While in the diagnosis stage I think I thought, if only we could get a diagnosis, things will calm down…..realistically, you continue on a journey you never expected, just on a different road than you started on. You will come to a place of peace with it…because you have to for your children’s sake…but it is never something you can ever fully accept and be okay with. And finally, you will, if you look for them, realize that there are an amazing number of blessings that come with knowing your child has mito.

27. Something that has surprised me about life with mito is: How complicated…and at the same time, beautiful….life can be.

28. The nicest thing someone did for us was: Supporting our efforts to get the kids to camp this summer. We will never be able to thank those that contributed enough for this incredible gift.

29. I’m involved with Mitochondrial Disease Week because: I realize how difficult it is to really understand what our family deals with daily, and hope that somehow getting the word out will make a difference, if not in my children’s lifetime, in the children coming up behind them.

30. The fact that you read this list makes us feel: loved and cared about!! THANK YOU!!

A Favor & {Mito Fact a Day} Days 8-14 Expanded Version

As I shared in my last post (Days 1-7), I have been sharing a “Fact a Day” over on Face Book as part of my efforts this month to raise awareness of Mitochondrial Disease, and wanted to share it here too. 

8. The affected individual is at highest risk for neurological and organ damage during and for the two weeks following an illness.  Therefore even a simple flu or cold virus can have devastating effects on the patient, even death.  Any illness must be treated immediately with medical interventions, like IV fluids and IV antibiotics.  

Take a moment…let that sink in. 

Now, imagine knowing that information and trying to balance living with attempting to protect your child from the thing that is most likely to cause them harm.  It’s crazy!!  I suspect there have been times when those that love us have wondered why we worry about illness…..every day illnesses….as much as we do.  I mean really, a cold?  What’s a cold going to do to them? 

The thing is, it’s impossible to know when one of those every day illnesses might leave their mark.  The kids have had their fair share of them and, while most have come and gone without a tangible impact, some have, and those are the ones we are so avidly attempting to avoid.  And still live life.

9. Every 30 minutes, a child is born who will develop a mitochondrial disease by age 10. ~UMDF.org

10. Each year, 1000 to 4000 children in the United states are born with a mitochondrial disease. Half will develop the disease before their 5^th birthday. ~UMDF.org & other

11. While exact numbers of children and adults suffering from mitochondrial disease are hard to determine because so many people who suffer from mitochondrial disease are frequently misdiagnosed, we now know the disease is approaching the frequency of childhood cancers.  ~UMDF.org

12. Many with Mitochondrial Disease are misdiagnosed with atypical cerebral palsy, various seizure disorders, childhood diseases and diseases of aging.  Still others aren't diagnosed until after death.  ~UMDF.org

The “4000 a year” number is the one most quoted, which means 12 a day….84 a week…360 a month will develop Mitochondrial Disease.  And that’s only the ones correctly diagnosed!!  That number could be much, much higher. 

13. Mitochondria are necessary in the body to sustain life and support growth. ~mitoaction.org

14. Mitochondrial failure causes cell injury that leads to cell death. When multiple organ cells die there is organ failure. ~mitoaction.org

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September 18-24 is Mitochondrial Disease Awareness Week….and I have a favor to ask.

Could you, would you turn, Face Book and your place on the web GREEN for the week…or even a day?  Add an awareness ribbon….feel free to direct people here if they ask more about it….or even share your relationship with us and how Mito impacts you through us.

Think of this as our pebble in the pond….I have tossed it in and I am asking you to help make the ripple created reach further and further out.  Awareness is our only hope for a cure….for better treatments…..for life!!

It would mean the world to me…..to all of us!!!

{Mito Fact a Day} Days 1-7 Expanded Version

Over on Face Book I have been sharing a “Fact a Day” as part of my efforts this month to raise awareness of Mitochondrial Disease, and wanted to share it here too.  Here I can expound a little more on what each of these facts really mean to the average person. Feel free to share this information on your blog or Face Book too!!

1. Mitochondria exist in nearly every cell of the human body, producing 90% of the energy the body needs to function.

Air and food are metabolized by mitochondria. Every nucleated cell in the body contains from 5 to 2000 mitochondria. They are the size and shape of long, thread-like bacteria woven through our cells. Mitochondria consume over 80 percent of the oxygen we breathe and make over 90 percent of the energy our cells need to function. They use the oxygen in the air we breathe to release energy from food. This process transforms food calories into chemical energy, water, and carbon dioxide. The released chemical energy is then stored in the form of adenosine triphosphate (ATP). ATP is the universal currency of energy used by all life on earth. It is like an electrical power source that drives the engines of the cell. This process of burning food to make ATP is called oxidative phosphorylation. Only mitochondria can do it. Without it, muscles could not contract and neurons could not fire. Mitochondria literally make it possible for us to move and think.

Recent popular and scientific publications have focused on the "powerplant" functions of mitochondria. While it is true that energy production is one function of mitochondria, this is only a small part of what they do. Mitochondria in different tissues differ dramatically in their ability to consume oxygen and make ATP. For example, liver mitochondria consume just 2% of the oxygen that heart mitochondria do. Liver mitochondria are specialized for other duties. They contain, for examples, enzymes that allow them to detoxify ammonia, a waste product of protein metabolism. These enzymes are not made in the heart. Mitochondria also differ in the fuels they can bum. For example, mitochondria in the heart cannot use sugar for energy. They are entirely dependent on the metabolism of fats to meet their energy needs. In contrast, mitochondria in the liver can use both fats and sugars. The specialized functions of mitochondria help each tissue to perform its role in the day-to-day operation of the body. Children with mitochondrial disease have inherited specific mutations in either mitochondrial or nuclear genes (DNA). Their symptoms are a reflection of the tissues that need the function of that gene or genes most.

2. In a person with Mitochondrial Disease, the mitochondria are failing and cannot convert food & oxygen into life-sustaining energy.

This whole process of taking food and oxygen and converting it to the chemical the cells use for energy gets interrupted.  There are road blocks, if you will, and when all is said and done, not enough energy is able to be produced to run the systems in the body that need it.  And lets face it, every system in the body needs energy to work right.  The result is anything from a “brown out” to a “black out” in the systems involved, making sustaining life difficult if not impossible.

3. For many, Mitochondrial Disease is an inherited genetic condition, while for others the body’s mitochondria can be affected by other environmental factors.

There are numerous ways one can end up with mitochondrial disease.  Mitochondria were at one time an individual organism that became symbiotic with the human body.  Because of this, mitochondria have their own DNA called mitochondrial DNA or mtDNA.  This DNA is only passed on through the mother, but is passed on 100% of the time.  This is useful in the arena of tracing remains back through the maternal line as they have done in the case of some of the pharaoh’s, but brings with it issues if there are defective mitochondria being passed on.  There was a time when it was thought that all, or at least most, mitochondrial diseases were maternally inherited, however that has changed as more is understood about this disease.

The other way to pass this disease on is through the nuclear DNA or nDNA.  It turns out that the replication of the mitochondrial DNA is significantly impacted by certain nDNA that play a part in the process.  So as new mitochondria are formed, these nDNA must do their part or defects arise in the mtDNA.  In this case, Mendelian inheritance patterns exist, which is the more traditional way to inherit from the parents.

It is now thought that anywhere from 80-90% of mitochondrial disease is from the nDNA, with 10-20% being maternally inherited.

Finally, both medications and other disease processes can cause mitochondrial dysfunction. 

4. The parts of the body that need the most energy, such as the heart, brain, muscles and lungs, are the most affected by mitochondrial disease.  The affected individual may have strokes, seizures, gastro-intestinal problems, (reflux, sever vomiting, constipation, diarrhea), swallowing difficulties, failure to thrive, blindness, deafness, heart and kidney problems, muscle failure, heat/cold intolerance, diabetes, lactic acidosis, immune system problems and liver disease.  

5. Affected individuals may have seizures, severe vomiting, failure to thrive, heat/cold intolerance, poor muscle tone, delayed achievement of milestones, severe diarrhea/constipation, feeding problems, unable to fight typical childhood infections or repeated infections and fevers without a known origin. 

6. A "red flag" for mitochondrial disease is when a child or adult has more than 3 organ systems with problems or when a "typical" disease exhibits atypical qualities.

If a child is stricken with a catastrophic disease affecting three or more organ systems, or if a child has been afflicted with a relapsing disease that affects two or more organ systems and leads to slow but measurable deterioration, he or she may have a mitochondrial disease. At times, mitochondrial diseases can cause isolated symptoms. These may include unexplained seizures, low blood counts, dystonia (abnormal muscle tone or spasms), blindness, deafness, dementia, ataxia (stumbling or tremors), cerebral palsy, heart failure, or progressive muscle weakness. More often, however, several organ systems are affected in sequence, one faltering or failing after another. Good periods are frequently punctuated by abrupt deteriorations that are caused by simple infections. For children with mitochondrial disease these infections can be life threatening, and leave them with deficits that cannot be recovered.

7. As more research dollars are raised to find more effective treatments and ultimately a cure, some of the affected children and adults are living fairly normal lives with mitochondrial disease.  At the opposite end of the spectrum, many are severely affected, and some children do not survive their teenage years.

The only treatment that exists at this time is essentially treating each system that is affected and hoping that you can reduce the stress on that system enough to not cause issues with other systems.  In other words, it’s a game of trying to catch new issues or continuing issues as quickly as possible and put those fires out as best you can.  It’s a never-ending battle, and one that so often is impossible to keep up with.  Just as you see some stability, something new rocks the apple cart and your back at square one.

However, and this is where awareness comes in, the more doctors that know and understand the intricacies of this disease, and thus react more quickly and proactively to new issues, the better these kids are doing.  Understanding and knowledge is the key to some stability……funding and research are the keys to actually improving quality of life!!

Awareness

September 18-24 is Mitochondrial Disease Awareness Week. 

The question is, who and why are we attempting to raise awareness of this disease?

This question prompted me to do a little bit of research….why DO we want to raise awareness?  Why does any community attempt to raise awareness of their disease or affliction?  What is the goal?  Why does anyone, other than those dealing with the disease, care that others know more about it?

Some of this, I already had the answers for. 

Raising awareness increases understanding, at least theoretically.  If you see my children and hear they have Mito, how can you possibly understand what that means if the term is new to you?  Or, even if you know what mitochondria are, or I have shared my quick mito tutorial, how does that equate to understanding why today they seem to be doing “well”, but tomorrow they could be having big issues?  In this case, raising awareness has the potential to increase the understanding of what this disease entails on a day to day basis.  Sometimes that means a lot.

However, there is a bigger picture here.

In today’s age of social networking, there is the potential that your awareness of this disease might be passed on to someone else that needs to know more about it.  Whether that’s a family searching for answers for their child’s issues….a medical professional with a complicated patient that they have run out of answers for….or a neighbor questioning whether there is really something “wrong” with the child next door.  Your awareness could lead to someone, somewhere becoming involved with finding answers.  So, awareness plays a real part in the future of the understanding of this disease, finding treatments & cures, and easing the heart ache that comes with it.

I found an article that, while generic to raising awareness of any disease, points out some important points to consider.

The title includes the following:

“More care is the ultimate goal.”

It goes on to say that generally the goals of awareness campaigns are to reduce stigma, get more patients treated, make it more likely that physicians know what they are facing and convince researchers to tackle the unanswered questions.

“If you can help one person have that conversation with their physician – not feel alone, not feel out of control – you’ve really benefited society. “ says Suzanne Goss, senior vice president at Y Brand, a healthcare branding firm in New York.

While mitochondrial disease is still considered by many to be a rare and relatively unknown disease; that is changing quickly.  Each year the estimates of the number of people with mitochondrial disease keep increasing as the medical community learns more about this disease.  Part of the reason for this is that this field of medicine is so new.  It was just 15 years ago that scientists first linked a mutation in mitochondrial genes to a disease.  Today, with over 120 defect-causing mutations identified,  and new research revealing how the defects in the mitochondria trigger a wide variety of medical problems, more and more focus is being placed on the role the mitochondria play in keeping our bodies functioning properly.

Studies now suggest that when you combine the number of people that have defects in the electron transport chain with those patients with other diseases of the mitochondria such as CPT-II, carnitine transporter, MCAD, SCAD, LCHAD/Trifunctional protein deficiency, LCAD, pyruvate dehydrogenase, adenine nucleotide transporter, Freidriech Ataxia, mitochondrial DNA mutations, TCA deficiencies, and glutaric acidurias, the number of people suffering from mitochondrial disease is somewhere in the 1/1000 to 1/2000 range.  This would make mitochondrial disease the most common disorder of metabolism currently known today in the medical field.

Currently, there is no cure for mitochondrial disease and even finding medical treatments is a challenge.  Today, there are no FDA-approved drugs targeted specifically for mitochondrial disease.  Doctors are left with prescribing vitamin cocktails to boost cell function (which may or may not have an impact), along with making suggestions about diet, avoiding stress and extremes in heat or cold,  and providing medicines that can only treat the symptoms but not the underlying cause.

Research is beginning to produce some marginally encouraging results and while a cure is still many years away, doctors are focused on educating others so that the disease will be identified more quickly as well as, finding ways to provide better patient care in addition to identifying new research techniques that will one day assist the medical community in coming up with a cure. 

Patient care needs to be at the heart, and research at the foundation of any center taking care of Mito patients. These centers need to unite the three essential elements of medical progress- diagnosis, treatment, and research. In most medical centers around the world, these three elements are isolated because the individual physicians and scientists are all working toward separate goals. The physicians and scientists need to all be working toward a common goal- to understand and develop more effective treatments for mitochondrial and metabolic disease. This is accomplished through a unified program of patient care. basic science. and clinical research.

When a child is stricken with a catastrophic disease, it can take weeks, months, or even years before the diagnosis of mitochondrial disease is reached. Many children die before the correct diagnosis is made. A second child in the family is sometimes tragically affected before the possibility of a metabolic disease is considered. While most physicians can easily recognize cancer when they see it, very few physicians are yet able to recognize mitochondrial disease. Moreover, very few medical centers are equipped to offer the specialized diagnostic, treatment, and research facilities required for the comprehensive management of children with mitochondrial disease.

The question becomes, why should adults be concerned about Mitochondrial Diseases of children?

The diseases of aging outnumber mitochondrial diseases in children about 5000 to 1. But from a scientific point of view, the chronic diseases of aging are very complex, so complex they are hard to study. They take 20 to 50 years to develop. During that long period of time, every adult has been exposed to many environmental agents that may increase his risk for disease. The task of sorting out the causal factors from the incidental is very complicated, and sometimes impossible. For those doctors that have treated both children and adults over the years, they are struck by the great similarity between some of the childhood disorders of mitochondrial metabolism, and many of the much more common diseases of aging. This clinical similarity suggests a common cause.

Children give us the opportunity to see the causes and consequences of mitochondrial disease with a clarity that is not possible in adults. Because children have not yet lived long lives, the list of factors that must be considered in discovering the precise cause of their disease is much shorter than the list of factors for a similar disease in adults. Clarity in science leads to new insights. For these reasons, many of the freshest new insights into the diseases of aging will come from the study of the young. Moreover, physicians and scientists feel that when effective therapies are developed for children, these therapies will also be shown to be effective in treating similar disorders in adults.

In rare diseases, ultimately awareness is the greatest tool we have to fight with. 

Will you become aware with me this month?  My children, my family thank you for it!!