Don't Be Jealous: We Saw the Wiggles Live

Tonight we took the entire family and Roxie's long time CAP worker to see the Wiggles (AKA Australia's top earning entertainers 4 years in a row). Some of you are wondering who in the world The Wiggles are and others are making the gag me with a spoon gesture. Our family's interest in the Wiggles began when we noticed about 4 years ago that Roxie was captivated by the Wiggles in a way we had never seen. Up to that point she was not very interested in watching TV or DVDs other than the occasional Baby Einstein DVD. But Roxie would enthusiastically sit and watch the Wiggles, while bouncing happily and chanting along to the music, often in perfect rhythm. To this day she loves watching Wiggles' videos and prefers The Wiggles to any other sort of movie or television program. Most likely the Wiggles' intoxicating draw for Roxie and millions of young children world-wide is the catchy music (I will most likely wake up singing Wiggles in the morning), the bright colors, and enthusiasm of the Wiggles themselves (yes they are 4 Australian men dressed in what looks somewhat like a colorful Star Trek outfit, acting silly, and singing children's songs with the help of a crazy pirate, a dancing dinosaur, and an octopus).

Tonight's show was at Time Warner Arena and we never know how Roxie will do in an auditorium type setting. Luckily she was happy for the first two thirds of the show, laughing, bouncing, and chanting along. But by the last third Roxie decided she had enough and started crying, kicking, and throwing her head. We don't know if she was having sensory overload or was tired or maybe a combination. Roxie's CAP worker took her out to the hallway, but she never was able to calm down enough to watch the rest of the show. I think Roxie had a good time before the meltdown and I am glad we all went. It was particularly neat to go to a show that all of our kids were excited to see. I know that this will not happen much longer as McRae and Markos get older. In fact today one of McRae's friend's told her that she thought that The Wiggles are for babies. I was proud of McRae for standing her ground as she responded to her friend that she likes The Wiggles and was excited to see them. I love that she does not yet crumble when confronted by peer pressure and I pray that she will always be that way. McRae and her brother had fun dancing and singing at the show. I think they will always be willing to do things that Roxie likes even as their interests change because the love her very much and are generally sweet kids.

Walk With Me: StRoll in the Park news coverage!!!

David Perlmutt with the Charlotte Observer interviewed me earlier this week for his blog, The Cliff. The blog was created to highlight the crisis facing Mecklenburg's nonprofit community and to raise awareness for the many great organizations, like Easter Seals UCP, that are part of it. Here's a nice piece he wrote about Roxie and the Walk to help promote Saturday's event.

Roxie's eye surgery

Our sweet girl is home resting after a long day at the hospital. Her eyes look pretty rough right now (swollen a bit and very red), but she is already moving them together better making us think the strabismus was at least somewhat corrected. Surgery lasted a little more than an hour and a half and there were no surprises. We spent a lot of time before the surgery talking with the anesthesiologist to make sure their plan for her was appropriate for someone with mitochondrial disease.

The one drug they did end up using to put her under was propofol. This drug was on a list we were told at the UMDF conference last month that mito patients should avoid. But after discussing it with the doctor, it was clear that it was the better alternative as the other drug was a potential culprit in malignant hypothermia which we did NOT want. Also, we were told they had used propofol on many mito patients before. We were impressed that the doc seemed to know so much about mitochondria disease ... a good sign it's getting more attention.

Anyway, she was groggy and a little fussy this afternoon, but mostly her usual self, minus the eyes being swollen and red. She would not eat much either, including her medicines. Not much we can do, so we gave her a cold compress on the eyes (boy, she loved that 1 minute treatment ... best to do 10 minutes, of course) to keep the swelling down, put more antibiotic ointment in her eyes, and recited Goodnight Moon. She fell asleep almost immediately. Poor girl.

In the morning, she is likely to have serious "mattering" around her eyes, otherwise know by the technical term of "eye boogers." But she should feel much better they tell us, and hopefully she'll eat something and take her meds, too.

It will be a couple months before we know how well the surgery will result in correcting her strabismus. If all went well, there will be no more need for additional surgeries, her eyes will work well together, and she'll start using them both at the same time. That would be fantastic and would really help her development we think.

New Research on Roxie's Birthday

Today's Roxie's sixth birthday. She had a great day, and it seemed clear that she knew it was her special day. Mom made her a cake and she loved her gifts, one of which was an interactive DVD.

Tonight I came across some very cool research. Not sure whether it has anything to do with Mitochondrial Disease, but it's very interesting.

Rocco does it again for Mito Disease

Well, Rocco did it again ... he scored millions of impressions for Mitochondrial Disease awareness by homering in the top of the 7th to tie the score at three apiece in the exciting World Series finish on Wednesday night.

Despite the Rays' eventual 4-3 loss in the rain-soaked series, Rocco Baldelli is a HERO to many children and adults living with mitochondrial disease, not to mention their parents and siblings. I hope he is able to keep the awareness train going by really getting involved in the advocacy side of Mitochondrial Disease. Way to go Rocco!

To see just how much something like this provides inspiration, visit the United Mitochondrial Disease Foundation website.

Rocco Baldelli wins the pennant ... with mitochondrial disease!

Kate forwarded me the following email from Donna and Norman Pulliam, big advocates for mitochondrial disease. Amazing.

As you all know, we are passionate about promoting awareness of Mitochondrial Disease. As supporters of the Caroline Virginia Mitochondrial Disease Fund we want you to know when there are interesting stories of others who are battling a diagnosis of Mitochondrial Disease. Here is the latest story that gives Mitochondrial Disease another face for you to recognize.

Even if you have NO interest in the World Series....we thought we would pass along a little tidbit of interest. The Tampa Bay Rays (who were in LAST place in their division earlier in the season) - have clinched a spot in the World Series by beating the Boston Red Sox.

One of their players, Rocco Baldelli, was diagnosed in the spring with a mitochondrial disease. After making his professional debut a few years ago and being considered one of the top rookies of the year, he battled a series of injuries as well as unexplainable debilitating muscle weakness. He has been doing incredibly well since diagnosis...and has even been playing this summer. And in Sunday night's final game of the American League Championship Series, Baldelli gave everyone a moment to cherish. With the score tied in the fifth inning, he lined a single to leftfield to drive in the eventual winning run in Tampa Bay's 3-1 victory against the Red Sox.

We can't help but pull for the Rays now...and for Rocco! If you would like to learn more about mitochondrial disease or Rocco Baldelli, go to www.umdf.org

Thank you for your continued support of the Caroline Virginia Pulliam Mitochondrial Disease fund. With your help, we are making a meaningful contribution to the research and awareness of Mitochondrial Disease.

Kate and I aren't huge baseball fans, so we weren't aware of this on our own, but we are excited about the heightened awareness this brings to the disease. And we are, of course, excited for Rocco, too.

Empowered

A big weight was lifted off our collective shoulders today. We had our follow up visit with Dr. Shoffner in Atlanta, and it could not have gone better.

The upshot is this: we found out that Roxie almost certainly does NOT have an aggressively degenerative form of Mitochondrial Disease. This means she is unlikely to develop additional problems in other organs (e.g., heart, lungs, G.I. tract) AND that she is likely to have a more traditional life expectancy!

The drive home this afternoon was light-hearted to say the least. We really like Dr. Shoffner, and believe that, along with our neurologist, geneticist, and pediatrician (and various specialists and therapists), we are seeing all the right folks for Roxie's condition. With hard work, the latest treatment options, a hope for future breakthroughs and maybe even a cure, we really feel empowered ... probably for the first time since we started this journey.

Useful handbook on Mitochondrial Disease

Recently, Kate and I attended the United Mitochondrial Disease Foundation annual conference in Indianapolis, IN. We learned a lot, had a chance to have some one-on-one conversations with mito specialist doctors, and met some neat people who are dealing with many of the same issues as us.

One of the doctors we chatted with was Dr. Sumit Parikh. Originally, we were scheduled to visit with his colleague, Dr. Bruce Cohen, at the Cleveland Clinic, but not until October. Dr. Parikh, who we really liked, had an opening in August, so we are now going to see him instead. Hopefully Roxie will tolerate the plane ride better than our trip to Utah a couple years ago ... Dr. Nelson, her neurologist, gave us a prescription for a sedative which we hope will help her.

Doing some research today, I came across this great user-friendly handbook on mitochondrial disease for patients and their families. It is co-authored by Dr. Parikh and Dr. Cohen. Go to the Mitochondrial Medicine Society website, scroll to the bottom, and click on "Mitoland: A Handbook for Patients and Parents" to download the pdf file.

Watching E.T.

Last night, Kate and I made some popcorn and watched E.T. for the first time in at least 20 years. It's amazing how different it was to watch it as a thinking, questioning adult -- seeing all the allegorical stuff and being very "intellectual" about everything -- versus as a child watching for sheer entertainment. About halfway through the movie, I realized that I wasn't deeply invested in it; I was pretty much analyzing the movie from afar, as a remote observer.

But like all classics, what makes them classics is their ability to reach audiences on a very deep, meaningful level. Classics hit on enduring themes: betrayal, loss of innocence, reaching common humanity, etc. As a somewhat emotional person and the father of a child with special needs, I tend to tear up in movies more than the average Joe. Little things tend to trigger some emotional response, and often I can't say why. With E.T., the reason was clear.

It happened when E.T. is dying and Drew Barrymore's character, Gertie, is shown standing alone watching the doctors rush all around E.T. trying to save his life. My wife and I had commented earlier in the movie how much McRae, our 3-year-old, looks like Drew Barrymore's character, and I guess with that and the scare we had back in January with Roxie in the back of my head, I just started bawling. I don't mean some wet-eyed, sniffing cry ... it was an all out meltdown. I completely lost control. Just when I'd think I could stop, something else would occur in the movie that really hit home. I was immediately and fully invested in the movie, but on some parallel, personal level.

I wasn't just seeing the parallels between the movie and our life ... in my mind, the scenes I was watching were happening to our family: Gertie was McRae and Roxie was E.T. To me, Gertie watching E.T. being worked on by the doctors was Roxie lying on the floor of our foyer being tended to by paramedics that morning. The doctors surrounding E.T. were the same as the doctors surrounding Roxie in the E.R. trying to stop her seizures and then again in the Pediatric ICU trying to get her to breathe on her own while Kate and I stood by helplessly. E.T. is an alien, misunderstood, and cannot communicate in the typical way humans do. Roxie is a very different child and has alternative communication techniques. And on and on. The similarities were so exact and so many of them were happening at once ... so I lost it.

I think a lot of parents of medically-fragile, special needs kids would have the same reaction. We fret over whether we are doing everything we can to help them live and thrive. We dwell on whether we are helping their siblings understand and cope and be strong. We worry about the unknown futures for our families. And we grieve, whether we realize it or not.

And sometimes it comes out in the middle of a movie when we least expect it.

Diagnosis: Mitochondrial Disease

In late November 2007, we received a report from Dr. John Shoffner in Atlanta. We took Roxie to meet with Dr. Shoffner in August of the same year, and he used tissue from a muscle biopsy, spinal fluid, and blood samples for the workup which would determine if Roxie had a Mitochondrial Disease. The report read like Greek to us, and we didn't realize (since we aren't neurologists or biology experts) what it meant for Roxie until recently. While Roxie was in the Pediatric ICU in January of this year -- to treat RSV and pneumonia that triggered breakthrough seizures -- a doctor there (the fabulous Dr. Johnson) read the report and explained to us that Roxie apparently does have Mitochondrial Disease (Complex I and III) and consequently we learned a little about what that means. We have not had a follow-up appointment with a specialist, so thus far all of our information has come from Dr. Johnson, from Roxie's neurologist Dr. Nelson, from researching online, and from parents of children with Mitochondrial Disease ... so I will do my best to explain what we know. While we are on a waiting list to find out when we can meet with Dr. Shoffner again (the best they can tell us is "by this summer" ... and yes, this is extremely frustrating), we hope to take Roxie to meet with another mitochondrial specialist, Dr. Bruce Cohen, at the Cleveland Clinic in April who can help us further understand Roxie's diagnosis and how the disease may affect her in the future.

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The following explanation was copied from the United Mitochondrial Disease Foundation's website.

Mitochondrial diseases result from failures of the mitochondria, specialized compartments present in every cell of the body except red blood cells. Mitochondria are responsible for creating more than 90% of the energy needed by the body to sustain life and support growth. When they fail, less and less energy is generated within the cell. Cell injury and even cell death follow. If this process is repeated throughout the body, whole systems begin to fail, and the life of the person in whom this is happening is severely compromised. The disease primarily affects children, but adult onset is becoming more and more common.

Diseases of the mitochondria appear to cause the most damage to cells of the brain, heart, liver, skeletal muscles, kidney and the endocrine and respiratory systems.

Depending on which cells are affected, symptoms may include loss of motor control, muscle weakness and pain, gastro-intestinal disorders and swallowing difficulties, poor growth, cardiac disease, liver disease, diabetes, respiratory complications, seizures, visual/hearing problems, lactic acidosis, developmental delays and susceptibility to infection.

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That is a basic explanation of general Mitohondrial Disease. However, there are currently 50 known types of Mitochondrial Disease and each case is different. We know that Roxie has defects in Complex I and Complex III within her mitochondria. I have learned that there are five complexes that take place within the mitochondria and each one takes part in the production of ATP which is what the body uses for energy. We now believe the disease has caused Roxie's low muscle tone, epilepsy, developmental delays, and sensory integration disorder and has left her body in a fragile medical state. We hope to learn more about her specific case when we meet with Dr. Cohen at the Cleveland Clinic in April. I mailed Dr. Cohen information about Roxie's medical history as well as the results from Dr. Shoffner's office.

Currently there is no cure for Mitochondrial Disease. There are a few treatments which have shown the potential to slow the progression of the disease in some patients. Roxie is now taking CoQ10 and Carnitor supplements to try to treat her disease and the hope is to prolong the life of her cells. There is a lot of research going on right now that could potentially help Roxie in the future. So we have hope and we are so blessed each day that we have Roxie with us and in good health.