Special Little Girl with a Rare Disease has a Desire to Help Others

September 13, 2012

When I think back to the years before there was my husband, and before Meghan, my daughter, things tend to get blurry. Mostly everything important in my life, that has given me a true sense of purpose, has happened since I met them. One thing I do remember though, from the time I was small, is being sick very often. I also remember LOTS of surgeries, including breast and other biopsies, and a partial thyroidectomy.

When Meghan was born in August of 2003 she came into the world after a 41 week induction, 33 hours of labor, and an eventual emergency C-section because she inherited her mother’s big head. She spent a few days in the NICU, but from the moment we brought her home, there were things that weren’t right. I got brushed off a lot as a “new mom” but there was an urgency to that colicky cry that persisted over a year.

Over the years, we would find Meghan with developmental and speech delays, immune system deficiency, food allergies to gluten, dairy and soy, and profound sensory issues. She also had surgeries, beginning when she was 15 months for a hernia, continuing with endoscopy, barium swallow, gall bladder removal at 3.5, tonsils and adenoids, a lipoma from her back, and four surgeries for an AVM (Arteriovenous Malformation) in her right knee that took close to forever to diagnose.

It was hard to keep track of my own medical issues while juggling hers; yet, my surgeries and biopsies persisted as well. Finally, a well meaning physical therapist insisted we see a genetecist to “connect the dots.” And connect them he did. We have a mutation on the PTEN gene. It has an occurence rate of 1 in 200,000. We are both positive. PTEN is a tumor suppressor gene and causes vascular issues as well as benign and malignant tumors. It even accounts for both of our big heads! Lifetime cancer risks in this subgroup are disturbing.

My daughter Meghan, now 9 is no longer suffering developmental delays. She is in the honors program at school, reading years above her grade level. She has become very tuned-in to the plight of those with genetic disorders.

While doing a fundraiser at her school last year for childhood cancer, one of the things we did was sell gold ribbons to raise awareness. She was phenomenal, raising over $500 for the cause. After my breast cancer surgery last March, she noticed me receiving pink ribbons. She asked what the color was for genetic disorders. She was ready to talk to the world and tell them about Cowden’s Syndrome and all the other little known disorders affecting so many people.

We looked and looked for a ribbon, and found the denim ribbon on the Global Genes Project website. We could find no jewelry – nothing for her to wear with the symbol that so appropriately reflects what we all feel, “Hope it’s in our Genes.” We have a dear friend who is a jeweler. He looked the world over and found nothing. He offered to make the mold, and the necklace for us at cost. He was donating his time and talent so my girl could feel whole.

She beamed when the necklace was complete. So much so that she lit up a room. But, in typical fashion she didn’t have it on more that 10 minutes when she said she liked having a “one of a kind” piece, but she would like it more if I could contact the Global Genes Project. She told me it would be great if they could work something out with the jeweler so that money could be raised to increase awareness of rare genetic disorders. “Wouldn’t it be great mom if my idea could help change the world?”

It was her idea. Her need. Satisfied for now. Hoping to help others. That’s just the kind of kid she is.

Meghan (age 8) and me, (her Mom, Lori – age 38) were diagnosed with Cowden Syndrome a month apart in September and October of 2011. Cowden syndrome is caused by a mutation on the PTEN (tumor suppressor) gene, and is responsible for countless benign and malignant tumors all over the body. In Meghan it is even responsible for an AVM (arteriovenous malformation) in her knee. It was the answer to many questions as to why we had had so many surgeries between us, and that start of many others. We are surrounding ourselves in research, and supportive people who are helping us learn more every day. Together we will make the informed choices that will keep any tumors from beating us!

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