MRI Results

Well, I’m not sure how to feel. We got Will’s MRI results back on Tuesday morning.

It’s good, bad, and an expected result situation.

So, 18 months ago (March 2011) we had Will’s first MRI done to try and figure out what was going on. I laughed a little Tuesday morning remembering that I had told myself, 18 months ago this was it. The MRI won’t show anything and we’ll be done. We had already spent many months trying to figure out what was going on.

Those MRI results came back and showed four lesions on his brain near the deep cerebellum. Little did I know we had just begun.

The expected. Now, 18 months later, it appears that that tissue has died and has scared over. She described it as having little holes in his brain. She also gave a good analogy – imagine you have a big deep cut on your arm. It’s red, inflamed, “juicy” and just not looking good (that was 18 months ago). As time goes on, that red, inflamed, juicy cut will scab over. (Side note, your arm tissue doesn’t die however).

I guess that was the expected part. We already knew he had the lesions, but Neil and I didn’t really know what that meant for the future. The first “good” part is that Dr. Koenig explained that the younger children are the more capacity they have to compensate for missing pieces of the brain. She said that some people can live for a long time with a huge piece of their brain missing. So this makes sense, or as much sense as a hole in your brain can make. The technical name of what happened to the brain tissue is called encephalomalacia. Clearly I have some new research to do.

The bad. There is a VERY small spot on his brain stem near the periaqueductal region. This area is responsible for moving spinal fluid etc. The brain stem controls body temp, breathing, heart rate and so on. BUT and this is a HUGE BUT, Dr. Koenig said she is not even close to worried about this.

Apparently you could only see this spot on only one cut of only one slide of all the MRI slides and it was so incredibly small that it’s “not of concern” – from her lips to my ears. I asked if it might have even been there 18 months ago on the first MRI and it was missed and she thought that might be possible. So this could be an old spot, but new to us.

This is just really hard to internalize. You’re told a part of your child’s brain is dead, scarred over and that little tiny glimmer of hope I’ve been holding on to to fix those lesions – stem cell research – is squashed; then you’re told there’s a new spot, but don’t worry about it. (HA!)

Then you’re told the GOOD, which is what shocked me the most. Will’s brain appears to be stabilizing for now. The old MRI showed a brain that was a "hot juicy inflamed area" but now it seems as though the brain has cooled off and things are stabilizing for now!. Dr. Koenig thinks this might be because of EPI-743 and how good he is doing. So, the theory is, keep him on EPI and start the SubQIVG and this all should bode well for my little Wiggles. Or, as he corrected me last tonight, “my name is William Martin mommy, not Wiggles.”  

I am supposed to be feeling good and happy with the results. I’m struggling with that. My thought process hasn’t caught up with my feelings yet. I just heard dead tissue and new spot and kinda lost it for a few minutes. I actually had to tell Dr. Koenig, say the good part like three more times for me so it will sink in. We laughed and she obliged.

The sentiment that I’m going to try and hold on to and trying to ignore all the really terrible things I didn't want to hear, is a direct quote from Dr. Koenig, “Will is doing darn good.” Now, in addition to keeping him stable and "healthy" I am on a mission to fix this shit. Pardon my french, but in some regards I have more incentive to find treatment and a cure for our buddy than ever before.

 

The Past Five Days

Whew! I think this kinda captures our life.

Friday, my sister Julie and I took Will and Carson to The Woodlands high school football game. This is a HUGE deal. Julie used to teach there and occasionally takes Carson to the games. Well, Carson loves going and got Will all pumped up to go. They have been asking us to take them for a month, seriously, a full month.

On the field before the game, watching the football players warm up.

Singing the national anthem

Up close and personal with the ladies... Excuse me fellow The Woodlands High School alumni (ahem, Lindsey K.), it's not just some pathetic little drill team - it is The High Steppers. Check yourself ladies...

Pretty happy after chowing down on a some sour patch gummy straws. I'm always amazed when Will eats gummy stuff. Just a year ago he would have choked on it.

 

Saturday morning we woke up and went to Pump It Up for a birthday party – shout out to the Granello’s for an awesome time. If you’ve never been to Pump it Up, it’s kinda my worst nightmare for Will. Bounce houses, germs, he refuses to wear his leg braces because no one else is wearing shoes, kids running everywhere and just one squirt of anti-bac before they go consume pizza and cake after bouncing for 2 hours. BUT, Will loves it so we do it. We show up a little late to avoid too much jumping, then I follow Will around and try not to sweat the whole time. Will slept in so late that I was afraid we'd miss the whole thing!

Playing air hockey

Neil and I both hoisted our nearly 40 pound kiddo up a fairly steep set of stairs so he could go down the big slide. I was pretty sure I was going to lose my footing and fall on the children behind me, but thankfully I didn’t. Whatev, I’m sure all the adults were jealous that we got to go down the big slide.

So my camera kind of sucks sometimes and I was only able to catch Will at the very top of the slide. I really wish I had gotten a picture of Neil coming down it. That would have been classic.

I was so proud of Neil and I (and Will). There was a piñata, and Will marched on up and had his turn without any help from us. Normally, one of us would have helped him so he could really get a good hit, but he managed to swing, hit it and not fall over.

Waiting in line for the pinata with our two favorite Bilski girls!

 

Came home and took a nap. Phew.

Saturday afternoon we hustled down the street for a Halloween party for our neighborhood friend Maggie. So much fun! We painted and decorated a pumpkin and Maggie also was a pirate, just like Will. We brought her a sword to share and they chased each other around in the back yard.

As lame as this sounds, I am pathetically afraid to go to other people’s homes for parties like this 1- don’t know the lay of the land so I don’t know if Will can really get around 2- other families / parents who don’t know our situation judging (ok, I really don’t worry about them, but it’s just irritating) and 3- food I didn’t cook or know where it came from ie. Choking hazard.

 

Luckily, this Halloween party was awesome. The parents were super nice as were the kids. The spider cupcakes were delicious and most importantly Will had fun.

Sunday morning

6:30 a.m. – Will wakes up puking. Clean up. Back to bed.

8:30 a.m. – Will pukes up the three sips of pedilyte I managed to get him to drink. Clean up. Barney time

Manage to get him to eat some food, drink Gatorade (negative on the pedilyte, not worth that fight)

2:30 p.m. Wakes up during his nap, projectile puking. Feels warm.

3:30 p.m. Leave for the ER

9:30 p.m. Leave from the ER to come home.

Luckily, he didn’t have any more pukes at the ER, but we managed to get him on fluids quickly to keep his body from dehydrating. He had a low fever in the ER, but after the fluids started it went down by itself which was nice.

Of course, I had packed like we were going to stay for five days, or get puked on five more times. Whichever. J The lady who did his IV was not, shall we say, experienced? Plus his veins were pretty crummy because he wasn’t hydrated. It was a bloody scene and they changed the sheets thankfully.  Will was NOT a happy camper.

We all slept well Sunday night and he had a great appetite on Monday morning. We got to hang out with him all day J Neil and I tag teamed working from home and hanging with Will so that was nice.

I had a doctor appt. on Monday morning – just needed to do some labs. Will came with me and held my hand while I did my blood draw. He told me I was very brave and good job for not crying. I wanted to cry after that.

Tuesday: Will was back to school and Neil and I ventured over to the med center for the MRI results. It also happened to be my mito appointment, so we chatted about those items too - nothing to report on me. I will post MRI results soon, just digesting.

Whose ready for the weekend? ME!!!

Will showing off his mad chewing skills - a huge piece of gummy candy in his mouth. Carson looks a little disgusted if you ask me. :-)

 

New thing

I feel like I shouldn't have posted what I did on the MRI regarding the "new thing" - I was just too lazy and tired to write more and I don't know enough about it.

It's not new to the medical community nor is it some life changing thing for mito kids. It's just SubQ IVG.

Now for those of you without special kids now know why I was lazy, for those with mito kids it's nothing earth shattering.

Will's mito and immunologist doctor have a theory, if you will, that doing SubQIVG for Will is going to help with a few things. 1) IVG has been shown to reduce brain inflammation and swelling. Maybe that will help the four lesions on his brain. 2) IVG will help keep Will healthier and less sick which will in theory, keep him from being hospitalized or weak.

So what the heck is SubQ IVG?

SubQ - subcutaneous injection is administered as a bolus subcutis, the layer of skin directly below the dermis and epidermis, collectively referred to as the cutis. - or fatty tissue. Subcutaneous injections are highly effective in administering vaccines and medications such as insulin, morphine, diacetylmorphine and goserelin. Here is a "how to give" from the NIH.
http://www.cc.nih.gov/ccc/patient_education/pepubs/subq.pdf

IVG - Intravenous immunoglobulin (IVIG) is a blood product. It contains the pooled, polyvalent, IgG (immunoglobulin (antibody) G) extracted from the plasma of over one thousand blood donors. IVIG's effects last between 2 weeks and 3 months. It is mainly used as treatment in three major categories:

• Immune deficiencies such as X-linked agammaglobulinemia, hypogammaglobulinemia (primary immune deficiencies), and acquired compromised immunity conditions (secondary immune deficiencies) featuring low antibody levels.
• Autoimmune diseases, e.g. Immune thrombocytopenia ITP, and Inflammatory diseases, e.g. Kawasaki disease.
• Acute infections

Until somewhat recently, IVG fluids have been administered through an IV, not SubQ so essentially you have to be in a hospital or in-patient setting. Now, with SubQ, we can do this at home.

I haven't had the training yet, nor have we started this. I don't even have the appointment time confirmed. Hence why I wasn't really talking much about it, all I know is what I can google and learn from other families who are currently using this.

So, this info could all change, but what I think I know is...
-Weekly infusions
-Takes about an hour
-You have to insert a butterfly needle into the fatty tissue, tape it down and wait for the IVG to infuse into his system.
-Yes, there are a variety of side effects, most of which sound pretty crummy. But, we've decided the good outweigh the bad. Plus, most others I've talked to (4 other families using it) have had fairly mild issues that go away quickly.
-I'm thankful we were able to get insurance to approve this, otherwise the cost would likely have been prohibitive.

So, I don't know much right now, other than the theory is it will hopefully help our buddy.

Whenever we get this started, I plan on amassing an intense video / movie collection and am hopeful that I don't screw it up.

In other news, we finally got a cold snap. Not as cold as his first snow in 2009, but hopefully we're heading that way.

MRI

Just a little update and request for prayers. Will had an MRI of the brain done this morning. He was, as always, a trooper.

I went a little "postal" through this process because of a variety of roadblocks, insurance, people not listening to me (can you imagine?) and so on, but at the end of today we are home and Will is seemingly doing well.

So why the MRI? It's for a baseline test for something new we're going to start trying. I'll post about that later, once I know more details and can better explain.

I just hate putting Will under. He's had this allergy (??) related cough since Saturday morning and I've been anxious since then.

So why did I go postal? Well, it's a long story, but the short version is... you don't get your time slot for an MRI type thing until the day prior. So on Monday about 1 p.m. I call up to the hospital since I still haven't gotten a call and find out that his time slot is 10:30 a.m. on Tuesday.

Not fine in my book. And not a lot of time for me to try and get this fixed. From the start of this, I asked for the first appt in the morning, said whatever day they could accommodate that request I would clear my schedule. Supposedly that day was today. Well, it wasn't.

Of course, I was trying to get it switched, but then the anesthesia coordinator didn't call me back after two voice mails. Apparently, she had a family emergency and had to leave. Well, honestly, that's just not good enough.

I should have just cancelled the dang thing and rescheduled, but I felt like I had reached the point of no return. We're waiting on this MRI to start the above mentioned "new thing" and I don't want that delayed any further. Plus, I refuse to ruin his Halloween.

Why do we need/want the first appointment of the day for something like this? Well, the longer Will fasts, the worse it could be. He has a neruo metabolic disorder. Metabolic = metabolism = not eating = not a friendly combo.

There was a 7 month old ahead of us. They do it by age. So one of my "going postal" comments was something along the lines of, "so you'd rather put my child in danger of additional brain damage versus a fussy 7 month old" - of course if I was the parent of the 7 month old, the story would be different and obviously there's something likely really wrong for that 7 month old. I just wasn't in a sympathetic place.

Anyways, it was a long day. We left at 7:45 a.m. and didn't get home till about 2:30 p.m. The only nice part of the day was spending some time with Neil and running into some mito friends in town for their doctor appointments. I couldn't imagine doing this and staying in a hotel or with friends. Just adds to the stress load.

I hate anesthesia. I hate that his little hands are clenched to my shirt. I hate hearing him cry and whimper. I hate watching them put him under and his eyes rolling back. I hate waiting. I hate waiting in recovery looking for signs of life. I hate seeing him get upset because he feels funny. I hate looking at my little angel with his mouth open laying on a bed with wires and monitors and most of all I hate that he now knows what's coming. He didn't want to put on his gown because he knew what that meant.

I hate all that because it mostly just makes me go to a bad place, thinking about his death. That makes today easier in a weird way. I'm about 99.9 percent sure everything will be fine on days like today, but there will be other days when I'm not so confident. I hate that feeling.

I hate this, but I sure LOVE my little brave buddy who did so good today. He feasted tonight and I happened to find some chocolate cake for him too!

MRI resutls, not a result I'm interested in finding out. I just don't have a good feeling. But, regardless this will help us move one step further towards a proactive "new thing" that we have hopes will improve his quality of life and general health.

The Great Flu Shot Debate

I used to debate in my head, should I get the flu shot or not? I spent most of my life, until pregnancy really, not getting one.

Then, I got pregnant and was "required" to have a flu shot done, then we had Will and we were "required" to get one for him and us too. Then, we found out we have an immune compromised child and we really are required to protect him, us and those around him from getting sick.

If Will gets the flu, not only will he end up in the hospital, but it could forever change the direction of his health. One viral infection could send us spiraling downward into a place where we will never get back to baseline.

This right here is my biggest fear. I know it's going to happen, but I'm praying, begging God, for one more holiday season with our Wiggles as we know him today - happy, vibrant and full of life. Last holiday season Neil and I spent most of it in a fog.

Anyways, if you read this blog and you are around Will as a caregiver, friend or playmate, I'm asking you to consider getting a flu shot this season. I know for many of you who are skeptical it will be a challenge. I'm not asking you to change your beliefs, thought processes or outlook on the flu shot - I'm simply asking you to consider it if you are around Will to help me protect his life.

To take it one step further, I also want to specify which kind. :-) I'm not pushy am I? This is mostly for the kiddos. I have learned/ researched some specifics on this...

FluMIST - this is a live strain of the flu that sprayed into your child.
FluSHOT - this is a dead strain of the flu injected into your child.

Neither sound like fun, neither sound safe nor "normal" to put something that could potentially harm your child directly into their body 

All that aside, there has been an article published by the FDA that basically says for immune compromised children, the fluSHOT is a better option. Will's immunologist also agrees with the fluSHOT as the best option for Will. http://www.fda.gov/downloads/BiologicsBloodVaccines/Vaccines/ApprovedProducts/UCM123743.pdf
See page 7 for an exact mention of Leigh's disease.

I know every child is different. I know vaccination injury is real. I know my child is at risk for a lot of really crappy health issues. I know you want to protect your child too.

So think of it this way... you just had your child's fluMIST done, you take them to school, Will and the child play, laugh and share toys, meanwhile your child can fight this live strain, but mine can't. I know it's our choice to send Will to school, to put him into the world and expect others to think of his situation. But, as Will's advocate and mom, I am responsible to at least ask and inform those around us.

So, I'm asking you as an adult to stop in at CVS and get a poke in the arm for $15. I'm asking you as a parent to get your child the fluSHOT this season. I'm also asking that you are mindful of germs, snot and just general yuckiness when you and your child are around Will. What others can fight off, he can't.

So, I've said my very whiny, very self-centered peace about flu shots and why they are important for us. I have a bottle of "goop" as we call it by the front door. If you come over, feel free to grab a squirt. Don't be offended if we don't show up at a party because we've heard some kiddo is sick or if I obsessively squirt goop all over you and your family. It's because I love my little guy and just want him around for as long as I can.

For us, the pros outweigh the cons. Thank you for reading this and considering what's best for your family too.

It's getting Spooky Around Here

This time last year, just a few months post-diagnosis, I was in a fog. Last year for Halloween I went to the Kroger down the street the night before Will's school Halloween party and bought a $10 glow in the dark skeleton. While that's totally acceptable, I look back on it as a pathetic mommy move. (I know, I know... it's a stupid mommy pressure thing we put on ourselves - damn Pintrest - which I refuse to even log on to)

This year, we got a catalog in the mail. Maybe one came last year, I really have no idea. Mail wasn't a huge priority. Will picked out his costume, I ordered it and it's already arrived. BOOM! Go mommy!

What a difference a year makes... I am kind of proud of myself honestly. I know Will didn't know the difference last year (or maybe he did and I was so foggy and depressed that I didn't even notice) but I knew that's not what I wanted.

Now, he eagerly talks about his costume and Halloween and trick-or-treating with his cousin. This is what I wanted. Special Halloween paper plates I grabbed for a dollar at Kroger ALL month long to make his morning more fun.

I still remember his first Halloween we eagerly headed over to Party Boy to pick out our baby's first costume. It was a monkey - pretty fitting for him. Our little monkey. Pre-diagnosis, pre-therapy - it was just so pure and honest without any reservations of future Halloweens to come. It was just us hanging with our monkey. I miss those days. I miss just looking at him without fear or feeling like the moment is just slipping by too quickly.

 

 

If you haven't gotten your kiddos costume yet or perhaps you are a "big kid" and love Halloween as an adult, please consider ordering it online here: http://www.halloweencostumes.com/fundraiser/UMDF
15 percent of your purchase will go towards UMDF!

Hope you have a spooktacular October. I'm looking forward to pumpkin patch visits, trick-or-treating and finally some cooler weather! Likely Will is just looking forward to the candy :-)

Another point for Mito awareness - ABC.com!

Well my friend Rachelle helped Mito score yet another point on the awareness scoreboard!

Please share this with your personal network.

ABCnews.com posted this article this morning on the "Health" tab.
http://abcnews.go.com/Health/Wellness/texas-boy-battles-rare-leighs-disease/story?id=17375005

By KATIE MOISSE (@katiemoisse)

Oct. 3, 2012

Will Martin looks like a healthy 3-year-old, but his bright blue eyes and cheeky smile mask a deadly disease that's powering down his body one cell at a time.

Will has Leigh's disease, a genetic disorder that affects one in 40,000 newborns. And although his case is mild, he's unlikely to live past his seventh birthday.

"That's a pretty hard thing to grasp," said Will's mom, Lori Martin, recalling the devastating diagnosis that came just over a year ago. "We left that appointment pretty shell shocked, went home and just cried."

Leigh's disease disrupts the mitochondria, the cellular power plants that turn food into fuel. As the plants fail, the cells die. And slowly but surely the whole body shuts down.

While scientists see a glimmer of hope in an experimental drug, the current treatment for Leigh's disease is little more than a cocktail of vitamins and supplements.

"There's nothing you can do about it," said Lori Martin, who lives with Will and her husband Neil in Houston. "That's the second gut punch. You want your doctor to have all these magic answers but it doesn't really happen that way."

The disease has already attacked the energy-guzzling cells of Will's developing brain. A recent MRI scan showed four dark swaths of dying nerves in his cerebellum, which controls balance and coordination.

"He can't jump, run, hop or skip, but he gets around," said Lori Martin, adding that leg braces help guard against ankle sprains. "He thinks his fast walking is running. He's really doing quite well for having this diagnosis."

But Will's mitochondria barely keep up with his day-to-day energy demands -- and that's assuming he's healthy.

"One illness puts us in the hospital, and we may never leave," said his self-professed "helicopter mom," always hovering nearby with hand sanitizer in tow. "We try to strike a balance of letting Will be a 3-year-old boy and doing everything we can to keep him from getting sick."

For the doting mother, Will's diagnosis is especially hard to swallow. He inherited the gene defect from her through her mitochondrial DNA. That means she, too may develop symptoms of the disease.

"I'm so focused on Will and his health that that's on the backburner," she said, adding that her mother and two sisters were all found to carry the genetic defect, too. "It also means it's highly likely that any other child we biologically produce together would have Leigh's."

Pediatric neurologist Dr. May Kay Koenig, who treats Will, said Leigh's disease is the hardest diagnosis to deliver.

"People expect their children to be healthy, and to receive a diagnosis like Will's parents did is terrible in the least," said Koenig, director of the Mitochondrial Clinic at the University of Texas, Houston. "But then on top of that to have someone say there's no safe way to reproduce, to have a child of your own, is devastating."

Scientists are searching for a way around that. One possibility is to swap out the mutant mitochondrial DNA with DNA from a donor during in vitro fertilization -- a technique called mitochondrial replacement therapy, which would essentially give one baby three parents.

"It would give parents the family they deserve even though genetics dealt them an ugly hand," said Koenig. "It would be an incredible gift."

But beyond the technical challenges, mitochondrial replacement raises ethical questions about designer babies that could take years to address.

"It's not in my timeline," said Lori Martin, who dreams of giving her son a brother or sister. "But the fact that other women might have that opportunity, I just think that's an incredibly meaningful gift."
Scientists are also working on a treatment that could help keep Will's mitochondria working indefinitely. In a small clinical trial, the experimental drug EPI-743 safely reversed some signs of Leigh's disease -- an exciting result that prompted orphan drug designation from the U.S. Food and Drug Administration. That means kids like Will can take the drug while further studies are carried out.

 

"We're pleased by the results for sure," said Dr. Guy Miller, chairman and CEO of Edison Pharmaceuticals, adding that a larger phase 2 trial of EPI-743 is set to start any day. "Our fingers are crossed."

 

Will has been taking EPI-743 for over a year, and his mom thinks it's helping. He has fewer falls, better bowel movements and has started to talk in sentences.

"We get hugs. We get to hear him say, 'I love you.' Some families don't get that," she said. "We feel like we're one of the luckiest unlucky families."