Hindsight

           

There are times when the realization that hindsight is 20-20 is frustrating, and other’s when it is enlightening, and the latter is the case this time.

Hindsight this time allows me to acknowledge a joyous, wonderful thing…..and at the same time, requires some processing for me.  Sometimes I process best by getting it “down on paper”, so here I am to share this journey with you all.

Last night, my precious Madison actually asked to wear make up and took some time finding an outfit to wear, and even accessorized said outfit for a dinner out with us, and her grandparent’s and great grandmother. 

For most this would not seem significant…..and for some they might even be saying “ugh” about their 14 year old daughter wearing make up….but in this house, for Madison to have the energy to even care about how she looks, is a huge gain!!  Miss Abby will always be the fashionista in this house, but the realization last night is that, when there is energy to do it, Madison DOES care about making herself up.

However, the greater realization is how bad things were before, and that we were in that “bad” place for a long, long time.

There is a whole combination of things that have changed to get her “here”, none of which, on their own seemed to do the trick, but together seem to finally have gotten her over a very large hump she wasn’t managing to get over on her own.  The only question at this moment is whether her body will continue to cooperate with the changes, and if we can keep future hits to her system to a minimum.

I don’t know how successful we can be, but do feel like we will ALL be even more proactive in the future with her…..we know how far she can fall now, and no one wants her back there if we can help it.

I am rejoicing in where Madison is right now!!

However, I’d be lying if I didn’t say that it’s a bittersweet joy.

To make last night happen, she rested all day, was tube fed the majority of her nutrition and fluids, and was on oxygen for the majority of the day.  She had enough spunk to get up at 5, get dressed and put make up on, make the trip across town to see family and have dinner, but was “done” about 8:30 and ready to head home.  And the effort last night meant that she just didn’t have it in her this morning to get up and make it to horseback riding therapy, and I suspect she’ll be low key through today and maybe even tomorrow.

All to say, it’s taking a lot of support for these rather brief moments of activity, but considering where we were not that long ago, this is still a huge success.  And we are ALL celebrating these moments with our girl!!

As sweet, or maybe even sweeter, are the moments in between the bigger energy expenditures…..the moments here at home when she is interacting with us all, bantering, teasing, laughing, and being a PART of things.  I have missed that the most this year….seeing that spark in her eyes, hearing that belly laugh of hers, and just watching the wheels in her head actually in motion.  So while the big expenditures of energy are still rather few and far between, are requiring a lot to make them happen, and are all too brief……these smaller expenditures are now happening most of the time, and are in reality, the ones that are the most important. 

In hindsight, I can see just how bad things have been this year…..and appreciate more the gains we are making now.  And that friends, is a huge blessing.

I want to finish with some words about my daughter, and I am feeling rather verclempt as I write them, so bear with me.

Madison has always been my strong, stoic child.  We have said since she was little that she was an “old soul”, and that it was as if she had been here before and just knew all would be okay.  She has endured more than most in this world, and always with a tremendous grace and dignity that clearly comes from some inner fortitude that was bestowed on her.  She has had to work harder for every gain, with less energy than others; and her bravery in the face of tests and procedures has been super human in my opinion.  She doesn’t whine about it, makes the best of every moment, and shows us all how one lives this life in the moment, appreciating it all.

Having said all that, the last three years have been HARD for her.  Harder than ever before, and at a time when she “gets” it all more than when she was little.  She incrementally was losing more and more, and feeling worse and worse, and nothing we were doing to try and address it really seemed to be making a difference.  I know how desperate I was feeling, I can only imagine how it has been affecting her.  By early August this year, she was as close to bed bound as one can be without being completely there, and the simple act of just interacting was more than she could manage. 

I cannot possibly express how inspired I am by how she has handled it all…..all of the struggles, all of the changes, and all of the new, worsening, normals.  She has maintained her positive attitude, shown us her strength and fortitude, and never, ever let what was happening get her down.  She has more than tolerated all of the new supports in place, has been handling it all herself since we started them, and has made the best of all the new equipment in the house by naming them all…LOL!!

She has shown us all a new level of strength and grace….and I could not be prouder of her.

I am sure Madison would agree that we would not have made it through this time without the support of our friends and family, so THANK YOU!!  Thank you for the thoughts and prayers, the phone calls, and for just being there for us.  Chance & Abby, as well as so many others, have been Madison’s cheerleaders when she needed them the most, and we cannot begin to express how much it means to us to know you all are out there for us.

Now is the time you get to REJOICE with us!!!

Love & Hugs,

The M’s

A {50 in 50} Update

It’s been far too long since I have updated on how we are doing on reaching the goals we set for ourselves way back at the beginning of the year….truth be told, I have been bad about looking at it and reminding myself what else we have to mark off!!  However, SOME of the items have been accomplished and it seems like a good time to update on them.

[X]1.    Accept (and even embrace) the fact that we have to be in Houston for medical care every other month this year.

as of 10/18 – WE DID IT!!!  We have made it a whole year and have only gone to Houston as scheduled, every other month.  We have appointments at the end of November and we can officially say we made it all the way through.  After 2 years of 12 visits each year, this is HUGE and has been a source of great relief.

 [ / ]3.    Help Chance in any way possible to fulfill his dream of having a band & playing a gig.

as of 10/18 – Chance was able to do band camp this summer, as well as a month of bass lessons.  In the works…a month of mandolin lessons and a month more of bass lessons before the end of the year.

[ / ]4.    Help Chance to find ways to “work”, even if only on a volunteer basis.

As of 10/18 – Chance continues to enjoy his service on the Youth Advisory Council at Cook Children’s and hopes to be able to do more there.  Several other volunteer applications are in hand and being worked on.

 [ / ]6.    Finalize plans for transportation in general for Chance.

As of 10/18 – We have the form in hand to get transportation arranged and will have it set up very soon!!  Chance is looking forward to getting himself around town on his own, as is his mom.

[ / ]7.    Make our home the one we all want it to be….purge it all, pretty it up, & party like it’s 1984.

As of 10/18 – very much still a work in progress, but big things are happening here…more on this soon.

[ / ]8.    Find a way for Chance to take guitar lessons monthly at least.

See #3 above.

17.    Find a way for Abby to travel to Wichita Falls and spend time with our Mammaw this summer.

As of 10/18 – One of those times when your heart hurts that you didn’t make something happen as you had hoped…..which is exactly why we made this list in the first place.  Sadly we were not able to make this happen this summer, and as of last week Mammaw is now here in town after breaking her hip in a fall in August.  While her house is still there, we are now in the process of getting it ready to sell and the possibility of any of my kids getting their week there during the summer, like their father did, is gone. L

[X]26.    Plan a “Get-A-Way” a quarter for the family.

As of 10/18 – Our final adventure of the year is going to be Mito Camp just outside Houston at the end of this month, and we are looking very forward to it!!  We will miss the old man, but are happy to have my mom along for the adventure.

[ / ]27.    Find our “center”, AKA Balance again.

As of 10/18 – getting there!!!

[X]29.    Attempt to get as many appointments scheduled, for as far out as possible, so we at least know when & where we need to be as far out as possible.

As of 10/18 – By June we had virtually all our appointments for the year scheduled!!!  It has made a HUGE difference in how we have all been feeling about what needs to be done.  Even when changes have had to be made, some control over it all has been felt.

[X]32.    Find ways to raise the funds needed for our adventures in Seattle.

As of 10/18 – WE DID IT!!  No….you all did it!!  Thanks to a bunch of amazing people we were able to fully fundraise for our trip to Seattle.  It was amazing and we are blessed beyond words.

[ / ]35.    Get our finances more in order (Dave Ramsey or the like).

As of 10/18 – We have actually done pretty well all year.  Need to get through our current adventure and then the holidays, but it’s feeling like we are going to get through a year in pretty good shape….finally!!

[X]36.    Work on transitioning Chance as he nears 18 in July.

[ / ]37.    Stay on top of the vast amount of paperwork that comes into the house weekly.

As of 10/18 – I have determined this will ALWAYS be a work in progress, but I have gained at least some control over it all this year, and for this, I am thrilled.

Six more items I could completely strike through, and eight more that we have some kind of update on.  NOT BAD!!

Still a lot left to do, including some kind of celebration for Chance on turning 18, and Miss Madi’s birthday is already around the corner too….the big 15!! 

I don’t know that we will finish, or even work on all the items on this list before the end of the year (let’s face it, the end of the year is almost here), and while I am disappointed, I am proud of what this list allowed us to get done…..excited about this as a tool to remember the day to day things that really do need our focus sometimes.  Needless to say, there will be another “50 in 50” for next year, with some of the items being the same as this year, but I have no doubt, also including some new goals to reach for.

Thanks for joining us on this journey!!!

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.

~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~

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

~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~

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.

~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~

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!!!

New “Normals”

It occurred to me yesterday when we went to the dentist office for the girls to get their teeth cleaned, that while we have adjusted and accepted some new “normals” here at home….have adjusted to the looks when we are out in public….for those that love us, some forewarning of these “new normals” is in order.  Our poor dentist!!!

A few weeks back, Madison’s nausea returned with a vengeance.  It was constantly there, would escalate for periods of time, then go back to the constant level.  We have been here before…it’s miserable and we started seeing some of the spunk we’d finally gotten back into her start to slip away.  None of us can stand by and watch her go back to where she was before, so with some help, a plan was devised, and Madi signed off on it.

For now at least, Madison is on partial gut rest.  What that means is that she is eating mostly soft, easy to digest foods, with an occasional solid food thrown in (when it’s just too enticing to pass up), and otherwise she’s getting Boost (formula) and fluids through her g-tube to make up for what she’s missing.  This means she’s connected to her feeding pump most of the time in order to get in what she needs.  This means she has another piece of equipment she’s lugging around with her.

This, most importantly, means she is FEELING BETTER!!

I’ve suspected for some time, based on times when she wasn’t able to eat normal food for a few days, that digesting solid food took a ton of energy for her.  There was no question that when her system wasn’t having to work so hard, her overall energy was better.  But while we had discussed the possibility of trying it, particularly the last two years when she has been so low energy, SHE had to want to do it, and who really wants to give up eating??!!

The difference is, bitter sweetly, amazing.

I am still praying that tomorrow, or next week, or next month something will change.  Somehow her system will get better and she’ll be able to eat “normally” again.  In the meantime though, I am going to embrace this new normal like she has, and celebrate the fact that her spunk is returning. 

A little more on the “spunk returning” I have referenced.  It’s still day to day, and one good day can still sometimes mean a few days of being lower energy and tired, but overall, she’s tons better than where she was in early August.  This baseline I cursed last summer because it was so much lower than where we had been the summer before, well, I am THRILLED to see this time.  I marvel at how much better a period of time can look when things progress to a worse place.  Our girl is still not where she was, but she’s living, and smiling, and participating, and laughing….we can live in this new normal. 

So, if you see my girl sometime soon, I hope you can look past the feeding pump & tubing, the Oxygen tank and nasal canula, and the wheelchair (she may or may not be in), and just see that smile and that sparkle in her eyes.  The attachments are less than ideal, and certainly make a statement we’ve not experienced making before, but for what it’s all giving her…..her life back…..we are happy to have them along for the ride.

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

~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~

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!!