Thursday, September 30, 2010

Thriving Thursday

When was the first time you heard that you or a loved one had Neurofibromatosis? Were you alone? Were you too young too understand it? What was it like when your child was diagnosed?

For over half of all those with NF, the diagnosis comes out of nowhere. A "spontaneous mutation" of chromosome 17. A 1 in 3,000 chance. The most common genetic disorder on the planet. None of these things matter, when the diagnosis is pointed at you, or your child.

At the Children's Hospital this week, I met a young family who just received the diagnoses of Neurofibromatosis for their 6 month old baby boy. They came to the Genetics Clinic to find out more information and to learn what to do next.

When I looked at this family, I saw that were already beginning to lose hope. The mother was crying, and the father had his head in his hands. The little baby sat on the floor, shaking his rattle, drooling a puddle in front of himself.

I began to talk to this family about their visit and the first words out of the woman's mouth was "I don't know what to do!" I knelt down next to her, put my hand on her back and told her to look at her baby. "He's perfect....what you do is just love him....You don't let this diagnosis be all you are about. You fight. You stay strong for stay strong for each other."

More words came out of my mouth, it all kind of seems like a blur. But this woman stood up, wiped her tears and gave me the best hug I think I ever have received. "Thank you", she whispered.

We exchanged numbers and e-mail address and parted ways.

For me, 'NF' was a part of everyday life from day one, but not necessarily my OWN life. I remember trying to say the word as a 7 year old whistling through two missing front teeth. I would dance around the living room singing it over and over, truly unaware how this cruel disorder was ravaging my family.

Maybe hearing this diagnoses for myself at 33 yrs old was "easier" to bare because I was somewhat comfortable with the term, its consequences, and the fact that it was merely a confirmation of something I really already knew, but had refused to accept. Even when three of my six children were confirmed to have NF, the blow wasn't as severe as it might have been.

But when the reality of behavioral problems, vision loss, and tumors appeared, the NF sledgehammer knocked my denial into depression, until I realized I couldn't stay in that state without bringing my children down with me. It takes daily effort, but I have transformed, mostly, my depression into determination, a determination to Thrive, a determination to teach my children to Thrive, and provide hope for others to Thrive.

Even so, I am surprised each day with the opportunities God gives me to impact others - giving me the strength to overcome my obstacles, and encourage others to do the same. People often ask me how I do it - how do I keep this attitude each day. Here's a secret, just for you reading today: when you focus on encouraging others, you will be encouraged yourself. Don't believe it? Just for today, give it a try anyway, and let me know how it goes.

Thrive on!


  1. Great post. It is so stressful when the diagnosis is made. It feels like falling down. Love your blog!!

  2. That family is so blessed to have met you, and had a chance to see, how people with NF can thrive. you have a golden touch to you Kristi.

    I dont know that hearing the diagnoses ever gets easier, no matter when you hear it etc. i think its just a matter of the skills you have to take it on .

    I feel so blessed to have met you, and have learned so much from you, in how much we can share. thank you.

  3. I first heard of it when my son was an infant. I noticed he had a couple of cafe au lait spots and looked them up on Google. The info I found said that they were harmless birthmarks except that there was this unusual genetic syndrome that was associated with having a lot of them. He only had two, so I filed the information away where I keep all of my medical trivia.

    Five years later, a couple of cafe au lait spots appeared on my infant daughter, so I looked them up again. As I was re-reading the page on cafe au laits, I noticed that another sign of that "unusual genetic syndrome" was having a very large head, which she had - off the charts. Then I took a closer look at her, and if you looked for fainter marks, she had a lot more than two - at least seven at the time. I ended that afternoon knowing that it was a near-certainty that she had NF. Everyone thought I was crazy, literally, but my ped humored me and sent me to the expert at the local teaching hospital, and now here we are. In some ways it was almost harder to endure that period when everyone thought I was nuts but I *knew* she had NF1, than it is to endure it now - but that doesn't make it easy.