Saturday, July 30, 2011

A Month in Pictures

So, it's been nearly a month since Neil and I got back from our first vacation away from Will since he was born, and then found out he has Leigh's Disease. I thought for this post pictures would probably be more entertaining than words.... So, "Say Cheeeesssseee!!"

Puerto Rico!

Hanging out with cousin Carson!

A visit to Keemah Boardwalk with Grandpa and Grandma Martin

We made a visit to Bass Pro Shops and came across the 4 Wheelers. As a child Neil loved riding 4 Wheelers with his friends. Seeing Will on a 4 Wheeler left me with a lot of mixed emotions. I think we both have thought how much fun it would be for Will one day (with a helmet of course) to ride. I hope we get to see that one day. Either way, I will always remember he had a great time "riding" a 4 Wheeler.

So much fun, that we had to try...

... a PINK one!

We wrapped up the month of July celebrating four birthdays! Uncle Justin, Aunt Julie, Grandpa and Papa! Will had his favorite dish - ICE CREAM - for dinner. Hey, what are you gonna do?

I referenced in the previous post that we do believe Will had a stroke after his temp and vomiting experience on July 13. We've been watching closely to see if and how he would bounce back physically. Good news there, it does seem like he is back to his old self. He's more sturdy and stable than he was when we got home from the hospital and continues to improve.

We also hope / think we dodged a bullet this week. Will had some snotty green stuff and a low grade temp one night this week (that doesn't qualify an ER visit, but rather close monitoring). After a lot of Nose Frida, humidifier action and fluids he seems to be just snotty, rather than green snot - which is REALLY good. Just need to keep watching him (and the snot, ew).

Wednesday, July 27, 2011

Shock & Awe

Shock: Will has a deadly disease and it will change everyone's lives forever.
Awe: How many people have offered to help, pray and do anything we need.

We couldn't have made it through the past few weeks without the support and love from our family and friends. Neil and I spent the first week in shock and surrounded by our family. They cooked, cleaned, took care of us and now, we function :-) So now what?

This is the weird part - we receive this terrible (really, terrible doesn't describe it) news, but yet, right now Will is seemingly ok. In fact, he pee peed on the potty tonight (and the floor, we haven't quite mastered that yet).

I have heard that people want to continue to help and bring dinners etc. Believe me, we're not Top Chef over here, but right now, we're holding or own with dinners. There will be a time when that will change and I promise we will ask for that.

However, there is something you could do to help and support. In February, there is a fundraiser walk called Energy For Life. It's Saturday, Feb. 4, 2012 from 2 - 4 p.m. at Sam Houston Park near downtown Houston. I am forming a team "Walk for Will" and will be sending out info on that soon. Please mark your calendar and consider joining us to raise awareness and money to find a cure. I'm going to try and do shirts for everyone so we can visually walk together!

As referenced above, Will has been more interested in using the potty and his wonderful teacher at school wants him to start potty training soon. Whew! Since I'm not quite ready for that, I thought I'd leave you with a picture of him....on the potty and probably annoyed that I was taking his picture.

Trouble leaving a comment?

I have gotten a few emails saying people have had trouble leaving a comment. I'm guessing we are all in the "sort of technology challenged" category together. If you're still having problems, try posting anonymously. You can just sign your name in your comments. Hope that helps. Of course, you're always welcome to email us too!

Monday, July 25, 2011

Cali or Bust

California here we come! I mentioned in a previous post that there is a trial study at Stanford University. We just found out about 30 minutes ago that Will has been accepted - we're so proud, his first college acceptance!

I told myself when he gets accepted, I would start a blog. Well, here we are!

We are slated to go Sept. 6 - 9.

Details on the study: It's a 13 week trial study called EPI-743. We will have to go Week 1, Week 6 and Week 13 for various tests and then do some local lab work with Will's doctor. It's a modified travel schedule for those who don't live nearby.

The results of other patients varies, but overall there seems to be a positive vibe. As a doctor described it during a Mito support group, it's not going to get someone to walk or talk who isn't already doing it, but more so, you might see results with fine tuning their abilities. So for example, Will can walk and talk, but we're hoping this might increase his coordination. Essentially the drug is not the cure, but it's a start in improving the quality of life which will hopefully lead to a cure one day.

As said by a Mito advocate, One thing that is apparent is that without donations there is no research and without research there is no cure. UMDF

Special thank you's

We wanted to say a special thank you to those of you who have donated money to the United Mitochondrial Disease Foundation in Will's name. It means so much to us and from the research we've done, this organization appears to be the best option for donations. They are on the forefront for research in this field. Thank you from the bottom of our hearts.

I also wanted to complement Memorial Hermann and its staff. Our experiences with that organization for the past year has been overall outstanding - from neurology, day surgery, ER, pediatrics, post-care, random nurses and doctors who give us directions and even the cafeteria - everyone has been very helpful, kind and respectful.

Additionally, Will's doctor, Dr. Mary Kay Koenig, and her entire staff are quite possibly the most wonderful people on earth.

So thank you a million times over!

Happy Anniversary to Us

For our five year anniversary (July 15) Will decided to give us a great gift - a trip to the ER and subsequent hospital stay on July 13 - 15. Our gift was he was discharged :-)

Background: Right now, Will has four abnormal spots on his brain. His doctor calls them "stroke spots" - it's not exactly the best description because it's easy to assume what a stroke is - his is a little different. Just go with me on that one... Anytime Will gets a viral infection - fever, vomiting, diarrhea etc.or even gets extreme exposure to temperature variations (hot /cold) it could cause another stroke. Eventually his brain will experience too many strokes and will not be able to recover. So for example, if he gets sick it takes him a lot longer to get his legs back to where they were at. Likely the same could be said for chewing and so on.

There is evidence that if you can get fluids started at the onset of the infection, it might help reduce or eliminate the stroke from happening. So, suffice to say, when little buddy gets a temp, we're off to the ER.

In this particular instance on July 13, Will had a temp that ended up spiking to 104.1 in the ER and then vomiting later that night. I made it from work (downtown)  to day care (in the Heights) to the ER in the med center in about 45 minutes - a small win for the day. Of course, I was going to do a trial run to the ER that coming weekend, Will just decided we should do trial by fire. Overall, everything went well. Will was a trooper and acted like quite the King of the pedi floor. A little boy in his class at school had the same illness, so we're guessing that's what he caught too.

So, you might wonder, did Will have a stroke? Well, we think likely so, but you can't be sure without and MRI. Since he has to be put under anesthesia, we won't be doing many more MRIs. Now, a week later, he seems to be back to his old self and his walking substantially improved!

Wearing Aunt Lisa's sunglasses got Wiggles smiling in bed! That, and he didn't have to wear any clothes for two days!

Thank you.

Well, I thought I'd start this blog with the email (below) we sent out on July 5, 2011 and to say thank you. We've learned a lot more since that day so some of this might be irrelevant as we go, but it's a good starting place. Thank you all for the amazing emails, prayers and support we've received in the past few weeks.

My hope is that this blog will bring greater awareness to more people on mitochondrial disorders and hopefully one day, parents won't have to experience what Neil and I are going through right now - Actually, I won't limit that to parents, because I know our families and friends are grieving too.
- Lori

Friends and Family,
A little less than a year ago we discovered that Will had some physical delays. Since then we've been on a "medical journey" to discover what and why. It's with extremely heavy hearts that we send this email. Will has been diagnosed with Leigh's Disease's_disease. It's an extremely rare disease in the mitochondrial spectrum and there is no cure. While the doctor can't predict the future, it's likely Will is not going to live past early teenager years - if that. Additionally, it's a genetic "mutation" and it's highly likely that any other biological child would have the same disease. Our doctor is a mitochrondial specialist and highly regarded - so we're in good hands.

It's a progressive disease and the doctor said basically Will could get sick with the flu or a fever etc. and his body won't recover. That could be considered the "onset" of the disease. So essentially, he has the disease and once the symptoms arrive, it's likely a year or less for our little buddy. Right now, he's running around the house yelling "mine" and getting excessive kisses and hugs from mom and dad today.

This is extremely hard to reconcile in our heads because during the past year, he has continued to make some wonderful progress. His walking is just non-stop, moved up to the next class at school and is full of energy, life and joy. He's been putting together more 3 word combinations etc.

There is a clinical trail we're looking into at Stanford and some various supplements that will help, but again no cure and no way to stop this. This is all very new and raw for us and so I hope you can understand why we are emailing. We didn't want to run into someone and have to explain some of this in person as it's obviously very emotional. We have already decided that we will NOT allow Will to live in some sort of pity-filled environment. Extra hugs and kisses are a necessary item but we will raise him just as we originally planned. We hope you join us by not treating him any differently.

There really isn't anything we can do other than pray and enjoy every moment we have with Will and appreciate all the joy and happiness he brings. We appreciate all your support. We plan on joining the If you're so inclined, there is an option to support the association as well.

With love,
Neil, Lori & Will