The Bravest Boy I Know

In the past year, Will has been poked, prodded and then some. Through it all, he has been such a brave and awesome trooper. Of all the tests we've done, we somehow had not had his heart checked. So, Will's doctor suggested we go ahead and do one, especially since he'll be under anesthesia next week and again at the end of November for the Stanford study. (He can't sit still for an MRI, so they have to put him under). Mito kids have a special, longer more intense process for anesthesia and it usually takes them longer to wake up. This hasn't proven true with Will as he woke up quickly the day he had a muscle biopsy, spinal tap and CAT scan. It's good that he wakes up quickly. It means his body is able to metabolize the medicine.

So, on Tuesday, Neil and Will took yet one more trip down to Children's Memorial Hermann for the Echo and EKG. It's kind of like an ultrasound and then a bunch of electrodes on his belly. Will did a great job! The technician said it would likely take an hour, but he was so still and calm that it only took 20 minutes! Neil had to lie on his back on the table and then Will laid on his back (on top of Neil) and held Neil's hands the whole time. I think he was a little scared, but he didn’t fuss and go crazy. He didn't like when they did the ultrasound on / near his neck but that was the only time he fought it. Pretty good little guy!

I'm so proud of both my guys! Don't have any results yet, but we have no reason to believe there is anything wrong. I'll post when we get an answer.

Tonight Will had vegetable lasagna for dinner and it made me appreciate that he is such a good and easy eater! He usually always accepts what's put in front of him and likes vegetables of all kinds. It reminded me of a very intense experience with spinach. I thought he was going to turn into Popeye. My favorite part is when he cuts his eyes towards his milk and is like, no. Forget it lady, I'm eating. He was about 15 months old here.

Messy Thoughts on Tuesday Night

Perhaps I'm feeling reflective tonight because I had my weekly therapy session with Dr. Mark. He's been one of the best choices Neil and I have made. This is just not normal stuff to deal with and he's been helping us get through it.

Earlier this week I received an email from one of the wonderful case workers at Will's doctor's office with the updated Mito Leigh's family list. From what we can tell, we're one of two families who live near Houston with Leigh's - at least we're the families who have agreed to share our contact info. The other three or four families are in far flung parts of Texas and even into Louisiana.

The email also indicated that this week there is another family who is being told their child has Leigh's. It made me relive everything all over again. There are some moments forever burned into my eyes. My heart is so heavy for this family with the new diagnosis. We don't even know them and may never know them. That first week... the first month... it's just still so fresh.

Part of why I started this blog was to spread awareness that this Mitochondrial "thing" SUCKS and finding a cure is the only option to help others in the future. In my view, Mito is worse than cancer. (if you've had cancer, or know someone who has died from cancer, I'm so very sorry if this offends you) This is easy for me to say because I don't have cancer and haven't lost anyone from it. It just makes me mad. At least SOME cancer patients have the hope of chemo, radiation etc. All we get is some mystery drug at Stanford and some supplements, and I'm sitting here feeling having a little "find me a dang cure pity party" right now.

So we leave for Stanford on Sunday. Like my fellow mito family friend told me in an email after they finished up the Stanford trial last week with their daughter, "As a parent I wanted her to wake up one morning and be cured but that is not going to happen." They were approved to continue using the drug, so that's a positive.

So, Dr. Mark and I talked some about expectations from Stanford. It's going to be hard not to feel discouraged or disillusioned by not seeing a major result. Don't get me wrong, I think we will see results. I just I need to manage my expectations. He's not going to magically be cured, but when all you have is this drug to hope for, it's hard to digest. It's all about improving quality of life and keeping him as healthy as we can. That's just not as impactful as some of the reports you read about the EPI-743 drug. For example, girl is blind, girl takes drug, girl sees 20/20 vision. That's a HUGE change. The flip side of course, how lucky are we that Will isn't blind. I should be glad there's not some big huge change we need and want, because life is (theoretically) pretty good right now.

Sorry for the rambling post... humor me. It's only Tuesday and Will has some yellow snot. Say a prayer that it's just allergies. :-)

My baby boy - only a few hours old and already giving me attitude. :-)

Things that Go Bump in the Night

So Neil and I were on the couch working tonight... and we heard a big thud from Will's room. Apparently we now know what a 30 pound kid falling out of bed sounds like. By the time we made it in there he was sitting up on the floor looking a little bewildered.

I rocked him for a few minutes and then he returned to the scene of the crime... bed.... he hustled over towards the far back corner and curled up.

We took the front of his crib off more than a week ago so now he has a "big boy" bed. We have been pretty proud of him though. He's done a great job not rolling out and he hasn't been night walking, which is what I was most worried about.

This was a picture taken via Grandma's cell phone on the big day we removed the rail.

A Few of Will's Favorite Things...

1. New shoes: Shoving Will's "boots" into a pair of shoes is one of the toughest daily tasks. You have to really have a good, flat, wide and easy to wear pair of shoes. So, he's only had one type of shoe since the leg braces. Well, the white "orthopedic" looking new balances were getting nasty so we got Will a new "sporty" pair of shoes. He's been pretty excited showing his news shoes off.

2. Hot pads. Pronounced "haat paad" - one of the most entertaining options to play with in the house. He gets one out, then needs more and more till he's got all of them out. He even brings them with him in the car...OK, I let him bring them with him.

3. Chocolate Milk. Pronounced "choc nilk" - it's the only way we can get the Miralax down. He loves it and it's no longer a fight. Whew! We saw a GI specialist who sees a lot of Mito kids last Monday and he thought we were doing the right thing with the Miralax. It was nice to hear that because half the time I wonder.

4. Barney. He is in lovvveee with "Bar Bar" - there is a song and the verse is 'hop hop hop all over the place, shake your dino tail while you make a funny face' The way he sings it goes "hop hop hop place" then he shakes his booty and puts his hands up to his face to make a funny face.

5. His teachers at school. I think this is a whole family love. If it wasn't for his amazing teachers at school, this would be an even harder situation. They always have such a happy, awesome and can-do attitude about Will and ALWAYS are helping watch to make sure Will chews his food and doesn't fall and hurt himself. It gives Neil and I such comfort in knowing that Will is surrounded by people that love him and only want the best for him. In alphabetical order :-) Ms. Janet, Ms. Joanne, Ms. Maria are his primary teachers this year, but Ms. Judi, Ms. Kristy and Ms. Monica always have a kind word and happy face for him. Who am I kidding, ALL the teachers are so sweet to Will.

We're gearing up this week to get ready for Stanford. We leave a week from today. I'm sure this week will be busy busy.

It's just so dang hot right now. I mean, HOT. Straight days of 100 degree weather. I'm so so so ready for some cooler weather that I thought I'd pull an old picture of Will at his first pumpkin patch. He was about 6 months old.

Love Lori

Crazy, Happy and Healthy!

I continue to try and find ways to reconcile what I see and what's to come. So rather than keep dwelling on that, I'm going to focus on the here and now and just love every minute of this smiling little goober.

Right now, Will is a little crazy boy who is healthy and happy. Even when he is sick, he usually is happy. This past weekend we spent Saturday at my parents house with family, including his cousin Carson who is a year older than Will. Needless to say, when these guys get together, it's usually pretty fun. After dinner and dessert, the sugar kicked in high gear.

In other unrelated news, for some unknown reason I agreed to be on the planning committee for the upcoming Energy For Life walk on Sat. Feb. 4, 2012. Our first planning meeting is Wed. night. What have I gotten myself into!?!?

It's just too hot outside, so mom says, "baseball inside!" I think Will just loves the bat.

Waffle batter at Papa and DeeDee's. Yummy.

And here is when the sugar kicked in post dinner and pre-bath!

Post-bath time with cousin Cameron "baby" and Carson

My new favorite book... you guessed it! Barney! This one is Barney on the Farm courtesy of Aunt Lisa. We've read it EVERY night, multiple times each night....

Loving on "Bar Bar" aka Barney and  babbbyyyyy

And we're done with the baby doll and its demonic eyes.

Things I Never Thought I Would Say...

There are so many to pick from these days.... Things I never thought I would say, “I can’t wait for our Medicaid to get approved.” Yes, that’s right. I received the recommendation to apply for Medicaid through many different sources – therapist, doctors and fellow mito families – so I jumped into action and began the application process.

There is a program called Medically Dependent Child Program (MDCP) which helps you get Medicaid quickly. Usually, it’s a six or seven YEAR wait list for Medicaid, but due to some clause somewhere, kids like Will can apply and get fast tracked to seven or nine MONTHS.

This is a huge deal to me right now because it means we won’t have to worry about how we're going to pay for support devices such as the leg braces, or one day a wheelchair etc. Our medical bills are mounting and while we’re not living in a cardboard box, we don't want to. I have really mixed emotions accepting and applying for Medicaid for Will.

So, why is Medicaid so helpful? For example, the day we had a spinal tap, CAT scan and muscle biopsy done and subsequent lab work, the bill was upwards of $90,000. A large portion of that was covered by insurance. Thank goodness! But, we are responsible for the percentage insurance did not cover. With Medicaid, they pay your balance. It is times like this that make me appreciate the “hand outs” I so often get irritated with hearing others receive. That’s a whole other blog posting and conversation which volleys too far into politics for my taste J

At any rate, we had our site visit with the MDCP case manager and nurse last week and it sounds like we’re going to receive approval in the coming months.

So the kind of creepy weird next step part is that we have to stay overnight at a nursing home. Don’t ask me all the details as to why, but essentially we have to show that Will is medically dependent and will be for the rest of his life.

Things I never thought I would say in light of all that's going on...."we're doing ok."

Buddha Says...

From a wise friend...

Buddha tells us that the human condition is to suffer, because we desire outcomes.  Peace and happiness come when we commit to "be here now."  In that continuing moment, is hope.

An old picture of my 13 Month Old little Buddha. My how time flies!

Mito Follow Up Appointment

So, a month ago my heart was ripped out of my chest, shredded, stomped on, shredded again and then shoved back up in me. During the past few weeks I have been trying to mend a very broken heart. Success comes and goes, but overall, doing ok. Neil is about the same though probably wouldn't use some of my descriptors :-)

During the appointment when Dr. Koenig (Mito specialist) told us Will had Leigh's Syndrome, our bodies kind of took over and there really wasn't any thought process for questions or next steps, other than get Will started on CoQ10 and Levocarnatine - supplements, no cure.

So, today, we had a follow up appointment where we could ask all the questions we've been dwelling on for the past few weeks. I have probably had an unhealthy obsession with understanding how he will, one day, die. Ew. Just seeing it on the screen makes my stomach turn.

The appointment was very productive and we cleared up a lot of details about the disease. I apologize in advance for the long posting, but this is much easier than 50 phone calls!

I also apologize, I'm going to back track for a minute so you understand how we've gotten here. We've gone through a series of tests during the past year, both physical and blood to this diagnosis. The MRI results (abnormal lesions on the brain) and subsequent genetic blood testing resulting in a 100% certain diagnosis of Leigh's. Here's what we know.  

-People are born with good mito and bad mito. It's something that we all have and is passed to us from our parents. Will's mito level is 132 percent. That's actually quite normal, some people have more or less. Of all his mito,Will has 98 percent bad mito. So we're counting on the other 2 percent to overcome the bad ones for as long as they can.

-Will's specific disease is the mtDNA Leigh's Syndrome. Which means, the egg that created Will had too many bad mito in it and had a genetic mutation. Obviously, this is a hard pill to swallow - my egg was bad and as a result, Will is never going to experience life as we wanted. As our (mental health) therapist told me, I am a victim, just like Will. There was absolutely NO WAY to have predicted or stopped this from happening. Victim. Any other biological children I produce with my eggs are highly likely to have a mito disorder. That's an entire other blog post :-) 

Now on to some positive news...
-Dr. Koenig is in no way shape or form someone that sugar coats anything. So when she told us that Will appears to have a mild case, I nearly cried for joy.

-Apparently, Leigh's Syndrome is one of the most well documented and studied syndromes in the Mito world. Theoretically, more research and more medical advances are targeted towards finding a suppressant or cure for Leigh's. Hence, why this Stanford EPI-743 trial was started. Will is the ideal candidate for this program. Even the way it was passed to him theoretically should help Will see a more positive impact from the drug.

-I have mentioned these abnormal spots on his brain - this is the crucial piece of how this disease works. Let me explain. Imagine an electrical wire. There is a tubing that surrounds all the various live wires inside. Leigh's Disease basically makes that tubing around the wires decompose - it's called Demyelination. Over time, the brain tissue that was being protected by the tube will die. That's called Necrosis. Eventually, the brain tissue that connects to your brain stem and spinal cord will die and so on. So, still waiting for the good part? The four abnormal spots on Will's brain show NO SIGN of death. The tissue is very much alive and we are hopeful that the Stanford EPI-743 drug trial will help keep that tissue alive and healthy. *I totally borrowed the electrical tube analogy from Dr. Koenig :-)

-As I mentioned in a previous post, demylenation seems to have a high rate of occurrence when your body is attacked by a viral infection. So, during a high fever, vomiting etc. getting Will hooked up on fluids actually can help reduce the degree of damage or eliminate it all together. Hence, the necessity of getting Will to the ER fast.

Ok, back to some bad news. I have probably had an unhealthy obsession with how this will progress and what Will may die of and how. Ew. Preface ALL of the below statements with mito affects everyone differently, so there are no absolutes with the future.

-There are two likely paths which Will might take. 1 - a slow long progression of setbacks. For example, during a period of a year, he could go from walking to not being able to roll over. Or 2 - he could wake up any day and have lost the ability to walk or talk etc. It wouldn't be a slow progression, but rather, a "on/off" difference that will be extremely noticeable. Dr. Koenig can't predict the future, but from what she sees right now, Path 2 is more likely. I like that one better. I pray for those on either path, because they both end in the same nasty way.

-Ataxia is highly likely a side effect we will see Will experience. The nut of it comes down to balance problems. Insert wheelchair.

-I asked what do most children die from, her response was respiratory failure or liver failure. He would not qualify for a liver transfer.

-When is this going to happen? No crystal ball, no prediction. She said we've got a lot going for us right now in that Will continues to make progress and that we have been proactive for the past year in getting him in therapy etc. It could be six months, six years or 16 years. You just don't know.

-She told us about the most recent patient they lost. A 12 year old girl with Leigh's who lived a happy and full life. There was nothing cognitively wrong with her, she talked, walked, ate and had friends. She was in the hospital for six weeks and before she fell asleep for the night, she said, "Bye. I love you mom" and passed away in her sleep, very peacefully. As peaceful as that can be.

So what now?
-Keep doing therapy
-Stay healthy and germ free
-We're going to do an Eco-cardiogram to check Will's heart. There's no indication there is anything wrong, but of all the things we've done testing on, this (shockingly) isn't one of them.
-Meet with a gastro-intestinal specialist to help with BMs and check his digestive systems.
-Meet with an immunologist as it relates to keeping Will healthy
-Go back in 2 months for a follow up visit with Dr. Koenig

Neil and I both agreed that we were dreading today. I didn't want to go through everything again etc. We left the doctor's office with a significantly more positive outlook. Plus, we got a lot of questions answered which help us understand what's going on.

If you have any questions about this please don't hesitate to ask, comment or email me. I am still working to understand all of it myself!

I've just sat here for five minutes trying to think of a more positive way to end this post and I really can't right now so I'll just leave you with a picture that makes me smile.

Style Show

Will may only be able to wear one pair of shoes, but the young man has quite the accessory collection now. In the past week we've added a few new tricks... new boots, an ab binder and a cooling vest.

TMC Ortho made a house visit on Friday at 5 p.m. to get us squared away with new leg braces "boots" and the ab binder. Thankfully, that's over and we won't be using them anymore.

Another fun symptom of a Mito disorder is hypotonia - low tone. This low tone affects his muscles and decreases his sensory input as well as BMs. Mr. George, our amazing physical therapist, recommended we try and ab binder to do three things: increase sensory input hopefully creating a more focused Will, strengthen his core muscles for increased mobility and help increase consistency of BMs. So, we'll wear this during the day and see how it goes. If it doesn't work out, maybe we can sell it to a really skinny Home Depot worker.

A fellow Mito mommy friend (thanks Laurie!) introduced me to the cooling vest. Most mito kids have low tolerance to the heat or cold. Living in Texas, the heat is obviously a real problem. The benefit of the cooling vest is that it helps Will conserve energy, or apply that energy to other key functions. Instead of his body trying to keep him cool, or not overheat, the cooling vest acts as a little AC unit so his body can focus energy on other things like walking, chewing etc.

Historically, whenever he's outside his face and cheeks are very red and his whole body is warm. It takes him more time to cool off as well. We tried it out this week at school on the playground and it worked like a champ! His face wasn't flushed and he seemed to have a better time playing outside.

Here is the one we bought: http://www.silvereagleoutfitters.com/products/Junior-Hydrous-Vest.html it's pretty cool. Just soak it in a plastic baggie with water for 15 - 20 minutes, wring out the extra water and presto! They also have adult options if you work outside a lot!

We've moved on from playing with all our new accessories to blocks.

Happy Saturday! We're taking off shortly for a much needed haircut!

Feed Your Shopping Addiction and Support Mito!

Go here to register: Macy's Shop for a Cause link

Help Support the UMDF by Shopping at Macy's on August 27th.

Purchase a Shopping Pass Here for $5
THE LAST DAY TO PURCHASE YOUR TICKET IS WEDNESDAY, August 17th :

Help the United Mitochondrial Disease Foundation by participating in Macy's Shop For A Cause event on Saturday, August 27th, 2011.

How It Works:

*Log onto http://www.umdf.org/shopforacause and purchase a $5.00 shopping pass.

*Shop For A Cause gives you the opportunity to help the UMDF by purchasing a $5 shopping pass for exclusive savings and special offers in every Macy’s store on Saturday, August 27th.  Receive 25% off on regular, sale & clearance items, including home. Save 10% on electrics/electronics, furniture, mattresses, and rugs/floor coverings.As a participating charity we keep 100% of the proceeds from the sale of each pass. Plus, you can enter to win a $500 Macy’s Gift Card!

*This exclusive shopping pass can be redeemed at any Macy's on Saturday,August 27th.  By purchasing a shopping pass to the event you can support UMDF while enjoying a day of spectacular discounts, entertainment and special events.

For more information please contact events@umdf.org

 * some exclusions apply

"Every 30 minutes, a child is born who will develop a mitochondrial disease by age 10."

The United Mitochondrial Disease Foundation8085 Saltsburg Road, Suite 201 | Pittsburgh, PA  15239
Toll-Free: 888-317-8633 | F: 412-793-6477 | info@umdf.org

Edison

I told Neil last night that he is welcome to do a "guest" post on the blog. Little did he realize his email this morning would be a posting!


I thought you all might enjoy seeing what Edison Pharma now has as its landing page....

http://www.edisonpharma.com/Home.aspx

The EPI-743 is the Stanford trial that we are going to be doing.

One Angry "mama" Bear Tonight

Tonight's post is one of rage and frustration. Below is a long excerpt of an email Neil and I composed to the company that we've used  to purchase a variety of devices including AFO's aka his leg braces or boots as we affectionately call them.

I was actually so mad and angry I started crying in the car on the way home. This is a long, probably pointless read for many of you, but I feel better. I guess I didn't mention that this blog is cathartic for me as I try to balance a full-time job, part-time therapist, patient advocate, Mito cure seeker and most importantly, loving mom. 

.....

Hi,

The past two months have proved to be an excruciatingly painful relationship with TMC Orthopedic.

A little background, my two year old son, William Martin, has been diagnosed with a mitochondrial disorder called Leigh’s Disease. A “side effect” of this is that he has low tone and needs supportive devices such as AFO’s to walk.

Since August 2010, we had a good relationship with your organization. When it came time to get Will a new set of AFO’s we scheduled an appointment on Tuesday, May 24, 2011 at the 1960 location. That meeting was a great visit and Will’s physical therapist also attended to discuss the best options for Will. We left with the intent to get a prescription from Will's doctor for a new, better fitting pair of AFO’s for Will.

Now, two months later, I’m still waiting. And believe me; it’s not for lack of trying to communicate with your staff.

Initially the exchange of information between the doctor, TMC Orthopedic and me appeared ineffective – there was confusion on what was to be ordered and where the prescription was. That was resolved the week of June 13 after countless phone calls on my part to try and track down a prescription that had been sent to your staff.

From June 13 – July 27 (with the exception of the week of June 26) I placed WEEKLY phone calls to your staff, specifically Kendra and Kevin at the 1960 location. Things never seemed to “appear” and call backs that were promised never happened.

Finally, during a call I placed on Wed. July 27, “magically” the order appeared in your system. It was dated July 12. More than two weeks prior. And remember, I’ve been calling and asking about this order every week.

Kevin was the one who magically found the order, understood my disappointment in the delay and offered to have Will’s AFO’s overnight shipped to the 1960 location. We agreed on a Monday, Aug. 1 at 5 p.m. appointment. Kevin told me if there was a problem, he would call me and even confirmed my cell phone number. While my frustration level was still high, I was relieved this problem was getting solved and appreciated that Kevin offered to have the AFOs overnight shipped.

Assuming he had done his job, I drove from downtown Houston to your 1960 location to get the AFOs. Upon a 10 minute wait at arrival, Kevin came out and told me that the AFOs had not arrived and that he couldn’t reach his procurement contact and had no idea when they might arrive.

To recap, this has taken more than TWO MONTHS to order a pair of AFOs.  For more than TWO WEEKS this order sat in your 1960 office inbox while my son’s toes were protruding over the edge of his current AFOs.

.....................

The letter goes on about our request for a timely response. I of course defined what timely means since they clearly have no concept.

I will try to post something positive tomorrow to make up for my angry rant. Maybe one day I will post a picture of Will's new "boots" - you know, in two months when they finally arrive and his toes are no longer attached to his feet.

Lori