As some of you may know, the Boston Marathon is being run in Sienna’s honor by Kuber Sampath to benefit NORD, (National Organization for Rare Disorders) through Genzyme’s Running For Rare Diseases program.
Over the next two months, we will be training along with Kuber (Sienna riding in her jogging stroller for a cumulative total of 26.2 miles) and spotlighting FOP friends beyond Sienna, who we will put on a wristband that Kuber will wear on race day. We are also going to donate $5 for each FOP friend who shares their story.
WEAK 2 Update:
No, that’s not a misspelling. Training week 2 was a WEAK week. Here is our list of excuses from last weekend:
– Temperatures dropped back into the 20’s
– Sienna still wanted to go outside, but did NOT want to go on a walk. I bundled her in approximately 84 layers and took her to the park with her favorite swing.
– After 10 minutes outside, I vowed to never leave the house again and started to wonder why we ever moved from Texas (but they were clearly the most joyous 10 minutes of Sienna’s day- I was cold, but she wanted to keep swinging “all day!”)
– We did do some indoor walking at an art store and the grocery store, but counting that in our total would be cheating, and we are not cheaters!
Overall it’s a good thing we didn’t overdo the freezing outdoors because Sienna had a terrible stomach flu (stomach “bug” if you ask her) on Tuesday and Wednesday this week that took a lot out of her. Literally! Get it?
Luckily this weekend is predicted to be back to almost 50 degrees so we should be able to log some more miles!
Weekend total: Zero
Our cumulative total: remains at last week’s 4.94 miles
Kuber ran 18 miles on Saturday, 6 miles on Sunday and a total of 40 miles for the week
And here our third FOP friend, AJ, who was very recently diagnosed, on February 3rd this year. Thanks to his mom Kristi for sharing her story! Please keep their family in your thoughts and prayers. Adjusting to life immediately post diagnosis is not easy.
Antonio James (AJ ) is our third child. He is our miracle baby. We tried for five years to get pregnant and when we finally decided to give up and let it go, we got pregnant. Ever since AJ was conceived we have been through a whirlwind. A mass formed on the umbilical cord at twenty-two weeks which caused brain damage. We were told from the beginning that AJ would have Down’s Syndrome (DS) or possibly something else just as trying. AJ does not have DS, however we knew something just wasn’t right. He had quirky things going on… funky toes, his hands had no pincher grasp, a hearing issue, gait when he walked, he was behind in speaking and in sitting up as baby. We went from doctor to doctor, each doctor had a different diagnosis… he was mentally disabled; he had autism, cerebral palsy, etc. AJ had none of those things and as they added diagnoses they would take some away. AJ was very lucky. He got physical therapy, occupation therapy and behavior/cognitive therapy. All these things helped but only to some degree.
February 3, 2014, is a day I will never forget, it’s the day our lives changed forever. We received the call from Children’s Hospital that our 3 year old son AJ had the gene mutation (ACVR1) that confirms a diagnosis for FOP. As I sat there just listening, I felt like life was moving and I wasn’t. I believe deep in my heart I already knew. The week before I looked it up just by chance wondering why another test and I couldn’t get past the home screen of the picture of the toes. I kept thinking to myself these are AJ’s feet. Then I talked myself back out of it saying seriously …do you know how rare this disease is and they are just stretching for anything this time. But I think deep down inside I knew. I kept recalling a bump on his head in September that he had that no one could figure out what it was and the day before the surgeon’s appointment to biopsy it, it went away. Could this have been that? AJ had FOP and it made sense. Realizing this was a scary, panicking feeling; however, I have learned not to overreact anymore because of the past three years of tests and false diagnosis.
I remember looking at my husband and he didn’t have a clue what this meant. Rico went home to look it up and I got in my car and cried the hardest I think I have ever cried. What would become of our little man. The sick feeling of this can’t possibly be happening is all I kept thinking. What would we tell our daughters, Alexis who is fifteen years old and Lillie who is ten years old? Would they understand?
We were scheduled to meet with Dr. Kaplan the following morning. Representatives from CHOP met us in the main entrance of the hospital and I kept staring at them as they smiled in an “I’m so sorry” way and I knew at that moment how serious this was. They escorted us up to the floor Dr. Kaplan was located on and we went to the waiting room. We were there for about ten minutes when a gentleman came up and sat on the floor with AJ and I and started playing memory with us. It wasn’t until a few minutes later he introduced himself as Dr. Kaplan. He will never know how much his kindness in those moments would mean to us.
We went to his office with what seemed like an absurd amount of people, the geneticist who figured this out and her assistant and they brought along an intern to keep AJ company, Kay and Dr. Kaplan. Dr. Kaplan looked over AJ, Rico and I. Then the intern left the room with AJ and I knew it was coming.
My husband I think believed they were wrong; they made a mistake. He asked me the weirdest yet harshest questions. But his diagnosis is correct. It goes from one extreme to the other… AJ will never be allowed to play contact sports, he will need an aid in school for fall prevention, no intramuscular shots, and I remember thinking well at this point what can he do? What I took from that day was AJ’s FOP is sleeping at the moment but when it awakens it will be fierce. In the meantime we are to let him be a kid as much as he can because we don’t know when it will happen. I honestly don’t know what to say to that. You want your children to live a happy normal life but what do you do when life throws you this?
Right now all we have is hope… Hope for AJ’s future, Hope for a cure, Hope for Medicine, Hope that everyone with FOP will be ok.
I know our journey has only begun and the one thing I know for sure is that we will become knowledgeable and fight along with everyone else in raising money to find a cure for FOP!