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 him...you 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!

It's a Bumpy Road

"Boy...That looks like a Neurofibroma on your nose." The doctor said as he wheeled his chair closer to my daughter. Pressing and pinching it, he in fact noted the small bump on the tip of Bailey's nose was a tumor related to Neurofibromatosis.

"Let me write a referral so you can look at having this removed." He swung his chair around and began to scribble on his notepad.

Bailey glanced over at me, with a look of confusion...Then she told the doctor, "This is just one of many that I will get. I don't mind having this bump on my nose, and nobody else minds either. I like this bump...and I will like all the ones I get, because they are part of ME."

My mouth dropped open and my eyes got big. I did not expect this response to come out of my very shy, usually quiet little girl. I put my arm around her and pulled her into me. I whipered in her ear, "God, I just love you...I am so proud of you baby."

I kissed her on her cheek and she rolls her eyes. (That's my girl)

As we were leaving the hospital, Bailey asked me what the big deal was with her not wanting her neurofibroma removed. "God made me this way...why would I ever want to change myself?"

A very proud moment for me, I went on to tell her that she was exactly right, and she doesn't have to change, just because the option to change is there.

She is beautifully perfect...and THAT is something that will never change!

Colorado NF Clinic

I don't know how many of you, who have been diagnosed with Neurofibromatosis, also have issues with extreme anxiety, but the drive to the Children's Hospital in Aurora, proved that I definitely have issues with this.

I white knuckled almost the ENTIRE drive! The traffic was horrible and I felt my heart racing, as it took us over an hour to get there!

But just as we walked in the doors of this amazing hospital, I felt the tension melt away. The cool air hit me and Bailey and I raced to the elevators. We rode to the third floor, to the genetics clinic and met with some amazing people!

I was feeling very blessed that my daughter and I had an opportunity to visit the NF Clinic, knowing that there are so many families out there who are lucky to find a doctor who is well educated about Neurofibromatosis.

We met with Dr. Lohr, who was really awesome. A Pediatrician, who has now taken an interest in childhood disorders (specifically NF) I was immediately impressed with her. Some doctors come off as rushed, impersonal, get-to-the-point type of people...Dr. Lohr, however spent quite a bit of time with us.

She examined Bailey, first starting with simple reflexes. Then Eyes, Ears, Mouth, Nose. She noted that Bailey's blood pressure was a bit high. This really concerned me, but I was told that many things can be a factor of making blood pressure high....for example, running up stairs, being sick, or simply being nervous.

We will have blood pressure checks frequently to rule out any problems.

Dr. Lohr counted Bailey's "spots"...This has always been the most uncomfortable part of an exam for me. While I was at NIH, participating in NF research, I was actually examined under black lights, from head-to-toe.

I think I was more concerned with my jiggly belly, then my actual tumors...but I got through it, and hey, what's a little embarrassment, if it's in the name of research, right? :)

Before the Dr. left, I handed her a handful of 'Thriving with NF' bracelets, and she was excited to ask if she could hand them out to the other NF families. :) *YAY*

Next we met with Jane Cahn. A wonderful lady who works with the Children's Tumor Foundation. We sat and talked for a while...I asked Jane about becoming a part of CTF and she was thrilled to tell me that she wanted me to write for the newsletter, and possibly volunteer at the hospital, to help newly diagnosed families deal with all that Neurofibromatosis brings.

Dr. Gary Bellus was the last doctor we visited with. He told me how happy he was to see a family who was THRIVING with this disorder. He answered a few questions I had about NF....which really made me happy. I had grown very tired of the "I don't know" responses from so many doctors.

My questions were:

1- If a person does NOT present with plexiform neurofibromas during childhood, what are the chances they will develop them as an adult?

***Answer: "It is VERY unlikely, that a teenager or adult will suddenly present with a plexiform. They are typically diagnosed in childhood. But it is possible for someone to be unaware they have a plexiform--because they were not imaged or diagnosed...or just because of lack of proper health care."

2-Optic Gliomas. How likely is it for an adult to develop a optic glioma?

***Answer: "Very unlikely for an adult to be suddenly diagnosed with an optic glioma. These Tumors are diagnosed in childhood, after MRI imaging." He went on to say that baseline MRI's are not typically ordered for children who are not presenting symptoms to warrant further testing.

As we were leaving, Jane invited Bailey and I to the NF Symposium on Sunday. She will be a speaker there--how could I say no to that!? So, Bailey and I have a date to spend all day Sunday at the hospital, to learn more about NF, and meet others dealing with this diagnoses.

All in all it was a GREAT visit. Bailey got to mention that she may be participating in NF research at Vanderbilt University in November....and even bragged up her mom, for writing a book...what a great kid!

I am finding that the more I learn and get involved with NF related things, the easier it is to Thrive with my disorder. It could be things like shaking someones hand at a walk that raises money for CTF. It could be the doctors who really take the time to learn the ins and outs of an extremely complicated disorder, or it could be my beautiful, quiet daughter, who suddenly comes to life when she talks about her own battles with NF...and how she feels about living with the complications.

The fact remains...If you plan to Thrive with anything in your life....You must first understand it. Then surround yourself with others who are dealing with the same thing. Knowing you are not alone in your struggles is a key part in not allowing those struggles to consume you.

Eye See No Answers

I held my breath almost the entire time Rachel was reading off the letters on the chart that was 6 feet away from her. The "O" was a "P", the "A" was an "F" and it continued to go on like this for a few minutes.

The Dr. stepped out of the room and came back in with a faxed copy of Rachel's chart notes. She made a few adjustments on the "butterfly glasses" and then asked Rachel to try again. This time it was MUCH better.....but I knew what this meant. Another change in her prescription.

Ugh!

Rachel sees the Ophthalmologist every 3 months due to Neurofibromatosis. She has Optic Pathway "thickening" and a Pituitary brain tumor....and has had a steady decline in her vision since May 2008.

"There's nothing we can do to save her vision, but we can make it so what vision she has, is good vision." Was THAT supposed to make me feel better? Was I to just walk away with that answer?

What I have learned from living with Neurofibromatosis myself is that you NEVER walk away with an answer that doesn't feel right. You stay until it is explained, and clear...(Not that anything having to do with NF is clear...but you must understand what is happening to your body or your child's body)

The problem here is, however....the Drs CAN'T explain why Rachel's vision keeps getting worse. The Optic "thickening" should not cause this. "Let's just keep an eye on this." Is the answer I am given.

So, even while our questions go unanswered, it won't stop me from persuing the answers.

"Walking Hurts Mommy!"

The 2nd Annual CTF Walk was yesterday...and it went really well. It was fun meeting other families who are also dealing with Neurofibromatosis.

The walk was a mile, just around a beautiful lake. My guess would be over 200 people showed up! AMAZING!

Lately--Rachel has been in screaming pain with her legs. She has been checked for the bone deformities that can often come with NF, but now I'm wondering if she has something going on.

We were just starting the walk, when Rachel begins to cry and point to her legs. "Mommmmy they hurt so bad!" I'd pick her up and piggy back her for a while, then let her down.

How many NF families have had to deal with leg issues with their kiddo? Rachel is 7, and has had no trouble till now.

I'm taking her in to the dr but wanted to see if anyone else's child has had NF related leg issues that were not diagnosed until 5-8 yrs old.