Bottom line of my conference experience is WOW, WOW, WOW!!!!!
I learned about a new, brand spankin' new drug that is doing AMAZING things for the several mito patients who are being allowed to use it. As of now, it is only being approved by the FDA for use in patients within 9 days of the end of life. I know, cannot predict that, but think of it as only the very sickest who will not get better but only worse, are receiving the med. We are not in the group of types of mito nor the severity (THANK GOD EVERY DAY) of the disease at this time to get into the trial for now. This med offers major hope and gigantic promise to mito patients and their families. I learned about studies going on that would replace a mom's mitochondrial DNA that has defects (like mine, for example) with another woman's healthy mtDNA and then allow a woman to eliminate the risk of her child to have the mito monster. Way cool. I learned about how exercise it completely indicated and showing great promise for improvement in the mitochondria of mito people. I learned about ways to raise money for research, service animals, genetics, eating and speech issues and on and on and on. But my favorite two things were Rooming with and hanging out with people I have known for years online who walk the same path we walk. We truly cut loose, listened, shared, compared info, tried to help each other remember college genetics and medical terminology, and just enjoyed being in like company!!!!! I even got to meet some of the kiddos I have been praying for along this journey!! Precious!!! I learned there is another mito family in our area that puts on a walk to raise funds for the United Mitochondrial Disease Foundation. So I look forward to meeting them and helping them. And the other thing I REALLY appreciated about the conference was getting one on one time with the mito doctors from the USA, sharing Garrett and Addie's data and clinical presentations and getting their thoughts and insights. I was thankful to get a chance to get a couple of second opinions....or would that be a second and third....anyway, I COMPLETELY trust our mito doc in Houston, but there was something very settling and helpful to me to have the other two I met with confirm that this IS mito and that we should continue as planned except cancel Addie's August muscle biopsy because very soon, like as soon as we provide blood samples, 400 (instead of the previous 9) genes can be tested for his mito defects that cause the mitochondrial depletion syndrome. So that was a relief. I also scheduled a time slot to meet with Dr. K, our mito doc in Houston, and we revamped the plan for Addie's Houston appointments. Instead of a biopsy, she will see a GI specialist for some weird pain and loose stool she has had two different months in the past year, undergo a sleep study to see if her sleep has improved in the past three years and see if adding oxygen at night might help her have more energy. We will talk about starting her on the mito cocktail of CoQ10, riboflavin, Carnitor and folic acid. She will also have a workup by Dr. K for all of the blood and urine tests Garrett has already had done. She may also see immunology and cardiology plus pulmonology. So new, safe plan that takes into account the new advances in testing.
I met an amazing mom who operates a foundation in memory of her daughter, Amanda, who died of a mitochondrial DNA depletion (that's what Garrett has) in 2008 at the age of 16. Amanda kept a journal for two years on Caringbridge.com, and the entries, along with the comments from others as well as some thoughts from her family are published in a beautiful book. It is inspiring to read, and I hope that it will give me insight into Addie and some of the concerns she may harbor as she approaches the teen years and has to face the disease. It isn't a sad read at all. Rather than slop around in self pity and denial and sadness, Amanda CHOOSES to remain upbeat, faithful to God, and constantly asking the readers to pray for her special friends or family going through rough times. Wow, what an inspiration!!!! The other thing I learned from her mom and family there was how to raise some money with something my kiddos, friends and I can make. Amanda's mom was giving away these beautiful, green beaded bracelets with all shades of green glass beads, a silver awareness ribbon, and all on memory wire which requires very little money and assembly and allows one size to fit all. So while visiting my friends in Chicago, we have been hopping all over town to the craft stores to buy wire, beads and ribbon charms and then making lots and lots of bracelets!!! I HOPE to sell them to friends and even strangers maybe at the walk if we get involved and certainly in the community to raise money for research. This is a fun project my girls can do with me and fully enjoy!!!!
So I walked away from the conference with a tear in my eye for saying goodbye to these friends I will miss so much, a lump in my throat from seeing the mito kids and adults who struggle but fight very hard, and a new spring in my step with renewed energy for facing each day, becoming an advocate for mito disease awareness, and motivation to take the fundraising on in our area.
If you would like a bracelet, please let me know here. They are $5 each. Just comment with the number you would like to receive. Give me your email address and I will email privately to get your address. Upon receipt, you can mail payment. They are lovely pieces an adult or child can easily and quite fashionably wear both casually and dressy. I will try to put a tag with a photo on the side of the blog later so you can see some examples. Each is different, and will come with a card that explains some of the "special" things included on the bracelet that will hopefully make you stop and pray and support those in the fight.
A special hug out to night to my roomies Jeannie and Nina. I absolutely love you two girls and can't wait to "spend the night in a hotel with my online friends" again soon!!!! Blessings, hope, love and prayers to your sweet families!!!
I would love, love, love to share more about the conference but will save for later!
Godspeed,
Clara-Leigh
More details to come!!!
