A few weeks ago I announced I would be running the LA Marathon in March with an organization called Running 4 Rare. You can read about that announcement HERE and all about what Running 4 Rare is.
Today I want to introduce you to a very special woman named Alexis. Alexis was partnered up with me from the organization for the marathon. We will be advocating together during the next 16 months (and hopefully many more after). Our mission is to bring awareness to rare diseases/disorders and to raise funds that will provide assistance to those affected as well as professionally to one day find a cure for all.
Here is her story:
I have been married for 3 years and have 3 amazing boys. Anthony 9 years old, Christian 9 months old, and Rocky (in spirit) who turned 2 on Thanksgiving Day 2016!
It was a very snowy November 2014 out here Buffalo. The news called it Snowvember as some cities around us actually got 7 FEET of SNOW! Luckily, in North Buffalo, where we live, we only got about 6 inches of snow. My due date was a week later and the baby waited till then to be born.
On November 24, 2014 I had a beautiful baby boy named Rocky Robert Maulucci IV. He was happy and healthy! I had the perfect pregnancy. Healthy, easy and joyful as any of us parents can imagine.
Rocky was born with a cataract in his left eye and we were hurt to hear that at 2 days old, he wouldn’t be able to see out of his left eye and was partially blind. Due to many other standard tests, doctors believed he could have had a virus called CMV. He was put on a 10 day course of antibiotics, had other countless tests done in the heartbreaking NICU, all to find nothing. We were thankful for that and 10 days later we finally took our precious baby boy home.
Rocky also had a heart condition called coronary osteo atresia which was lack of blood flow to the left side of his heart. As we learned, the left side of a human’s heart pumps blood flow to your body and our precious baby didn’t have that. It was an unheard of condition among many cardiologists we saw. At 8 weeks old he survived a bypass surgery (which is usually done in adults). He was a hero.
We took Rocky home a few months later after he recovered from the hospital. We made many wonderful family filled memories and took countless pictures. Unfortunately, it was short lived because Rocky had a difficult time gaining weight. At 7 months old he was back in the hospital. From different feeding patterns, being on oxygen, not meeting any developmental milestones, now having mitral valve regurgitation, being on many different heart medications. Something’s gotta give.
Doctors told us at Strong Hospital that another heart surgery was too risky, so we got a second opinion from Boston Childrens Hospital. Before we went there, Rocky had genetic test done and it shown he had a very rare metabolic disorder called i-cell disease. How could that be, I asked? I had a healthy pregnancy. No complications. Me and my husband are healthy and so is our family.
It turns out that i-cell disease is an inherited disease and with tests confirming, me and my husband are both carriers too. It amazes me how we all can be carriers of diseases and not know it because you don’t have symptoms and tests can only be done to see if you’re a carrier if there’s a health concern. At that time, I was 6 months pregnant with my 3rd son. Thank God, he is perfectly healthy and it is confirmed that he doesn’t have i-cell disease.
I-cell disease is so very rare and is almost unheard of. It is a lysosomal storage disorder that effects normal cell turnover at which carbohydrates and fats build up inside all the cells in the body. Life expectancy is 5-7 years, but we were told that any surgeries a child has had could make life expectancy shorter as recovery can bring complications. Tragically, there is no cure today.
Rocky’s heroic and brave life tragically ended on February 28,2016. He was only 15 months old. It is my life’s mission to find a cure for i-cell disease, for my son and for others fighting from it. My son’s life gave me purpose in infinite ways and his disease made that purpose a necessity.
Through a t-shirt fundraiser to promote awareness for i-cell disease and many google searches on how to further promote awareness, I found Run for Rare and couldn’t be more excited to join you in this needed, hopeful, and desperate Fight for the Cure!
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Rocky was a beautiful baby boy. As a Mother to a special needs child it is hard to understand at times why our babies were born with incurable disorders. It’s hard not knowing how to help. It’s hard not knowing what the future holds because such little research has been done.
Friends, today is Giving Tuesday. If you are looking for a cause to donate to, I ask that you look into Running 4 Rare and support me in the LA Marathon. My Crowd Rise fundraising page
is linked below.
I am running for Rocky.