Mitochondrial Disease- Leigh’s Disease

I wish I never knew what Mitochondrial Disease meant, I wish I never knew how to spell it, or pronounce it properly. I wish I did not know the biochemical intricacies of what happened inside these organelles.  But I do.

Out of all that is awful with this disorder and the pain and the heartache that it causes… there are a few bright spots…. today I would like to introduce you to 4 of them.  Four unbelievable parents (and spouses) who have been faced with the worst news a parent could ever fathom to hear. Four parents (and kiddos) who are an inspiration and source of support to me and who I am blessed to know, yet I still wish I never had to know them under these circumstances….

Meet: Elizabeth, Lori, Sebastian and Ricardo… all of their children have been diagnosed with a form of Mitochondrial Disease called Leigh’s Disease.

Leigh’s disease is a rare inherited neurometabolic disorder that affects the central nervous system. This progressive disorder begins in infants between the ages of three months and two years. Rarely, it occurs in teenagers and adults. Leigh’s disease can be caused by mutations in mitochondrial DNA or by deficiencies of an enzyme called pyruvate dehydrogenase. Symptoms of Leigh’s disease usually progress rapidly. The earliest signs may be poor sucking ability,and the loss of head control and motor skills.These symptoms may be accompanied by loss of appetite, vomiting, irritability, continuous crying, and seizures. As the disorder progresses, symptoms may also include generalized weakness, lack of muscle tone, and episodes of lactic acidosis, which can lead to impairment of respiratory and kidney function. (from NINDS)

Lady A and Grayson hanging out at a Mito Social

Elizabeth and I were introduced nearly a year ago by a local friend and business owner whom I had worked with in the past. She had seen my Mitochondrial Disease awareness posts from last year and messaged me about her friend. Elizabeth and I began to correspond by email and then she and her adorable son Grayson met Lady A and I for a playdate. We mommas, became fast friends with much to share and compare notes on. Lady A considers Grayson one of her coolest friends because he gets to drink through a straw in his belly! For nearly a year we have shared the ups and downs of this crazy world of Mito, and then September 11th happened all over again, in Elizabeth and her husband’s world (and in ours too as we heard and processed their news).  Elizabeth is an amazing writer (and momma and friend) so here are her words, for a day that has left me speechless…

Elizabeth’s Post:  September 11, 2012

Lori on the far Left and Me on the far right with other UMDF members at the Capitol, with a member of Kay Bailey Hutchison’s staff

Lori and I met at a mito moms dinner at the Cheesecake Factory shortly before the UMDF meeting. We discovered at that dinner that we would both be headed to Washington DC in a bit and planned to meet up once we got there. We got to chat on the looong drive to the capital for the UMDF’s Day on the hill and hung out most of the day in between our meetings getting to know each other, sharing stories, and acting like tourists!  Lori and her husband had found out nearly a year ago that their incredibly adorable son, Will, had this devastating disorder, Leigh’s. This week in honor of Mitochondrial Disease Awareness Week, Lori wrote this poignant article that was featured on CNN about her family’s journey.

Lori’s Article on CNN.com:  The invisible disease that’s killing our son

Sebastian and Jagger

Sebastian and I met at the UMDF conference this summer. I had followed him on twitter and we actually met on the lawn of the capital while lobbying congress for Mitochondrial Awareness and research funding. Though, I have never met his son, Jagger, if he is anything like his dad…I am guessing he is a firecracker!  Sebastian is a dad on a mission. He reluctantly came to the UMDF meeting, leaving Jagger and his wife Annette as they were getting discharged from the hospital, so that he could network with doctors and explore the ends of the earth for his son’s health.  Jagger just turned 2 last week and this post is a glimpse into Sebastian and his Wife’s incredibly difficult health journey with their son, Jagger.  Happy Birthday Big boy, I look forward to meeting you one day in person!

Sebastian’s Blog:  Happy Birthday Boo-Boo

Ricardo, Tiffany and Kaiman

I met Ricardo and his wife Tiffany and their adorable son Kaiman at my very first UMDF support meeting I attended in Houston.  They had just found out a few days prior to the meeting that Kaiman had Leigh’s disease. Though their pain was so raw and the news so fresh of the diagnosis, I was struck by their strength and their resolve to help their son in any way they could. I got to know their family better this year as we attended events together, mito socials, dinners, etc. Kaiman is quite the ladies man and while holding him one night at dinner, it was all I could do to keep him from stealing kisses from the ladies sitting next to me! What a charmer!  Ricardo and his wife Tiffany are all about bringing awareness to this disorder and Ricardo painted his facebook wall BRIGHT GREEN this week by asking friends to change their profile picture to a bright green box for MITOCHONDRIAL AWARENESS. He just let me know that he is almost to a 100% Green Out for Mito.

Four different families, Four different children, Four amazing friends….

ONE HORRIBLE DISEASE…with NO CURE and NO TREATMENT

This Saturday we will get together for a Mitochondriya’ll social here in Houston, sponsored by Mitoaction.org and graciously hosted by Memorial Hermann Memorial City, in an attempt to support one another through the heartache, the questions, and the unknown… and hopefully share some smiles, some laughs, eat some pizza and some birthday cake (Grayson is turning 2!!), as we celebrate life’s milestones and cherish EACH and EVERY MOMENT.

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This entry was posted in Advocacy, Genetics, Leigh's Disease, Medical, Mitochondrial Disease. Bookmark the permalink.

4 Responses to Mitochondrial Disease- Leigh’s Disease

  1. Awesome post Kristi- I can’t thank you enough for all you do for our kids and raising awareness. I too wish we had met in different circumstances, but regardless, I’m so glad we did!

  2. Pingback: Mitochondriya’ll ~ Support for Mitochondrial Disease in Houston | Taking Baby{food}Steps…

  3. Pingback: G is for Glutathione | Taking Baby{food}Steps…

  4. Anonymous says:

    Thanks for all you do to bring awareness about Mito. Hugs and prayers for your little ones.

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