Monday, March 22, 2010

Neurofibromatosis.....what the heck is that?

Sarah was so tiny when she was born. She weighed in at a whopping 5lbs12oz and 18". Yes, she was full term. Tiny and so perfect. She was our 1st child together but was considered our 4th child. We now had his, mine and ours.

We weren't new parents by any means and we had concerns. Sarah was not developing well. When I looked at her medical records I saw where I had stated at 6 months that I thought she had a neurological problem. All my concerns were rejected. It didn't help that we were relying on military medical personnel and saw a different doctor every time. Now, I am not putting down military medicine because we have gotten some great care, but seeing different doctors every time you go in requires you to explain your concerns every time you go in. It was frustrating to have concerns and not have them addressed.

By the time Sarah was three the doctors did have concerns. They said she was a failure to thrive child, she didn't register on the charts. We already had early interventions in the home and then at three she graduated to a school based program. At three she wasn't talking at all so she qualified based on needing speech interventions. We still were not able to get any answers as to why she was having so many difficulties. It is so heartbreaking when you know in your heart that there is something wrong and all the doctors tell you no.

When Sarah was 4 years old were living in San Antonio and just received orders to transfer to Hawaii. Before we left we decided to get Sarah's kindergarten physical done. It just so happened that the regular doctor was out and a neurologist was filling in for him. This doctor took one look at her after hearing my concerns and said that he believed that she had neurofibromatosis. He showed us her cafe au lait spots. I was shocked, I had never heard of Neurofibromatosis. He said that they will do follow ups in Hawaii and he wrote the orders to make sure it got done.

He also said to not look it up. After 4 years of searching for answers we finally had a diagnosis and we are told not to look it up! Naturally, you know that we did. The learning delays, small size and cafe au lait spots......they all fit. However, the tumors were scary. She had a genetic disorder, this will effect if she decides to have kids. She will struggle, it is unknown what she will develop since it is progressive. It was such a loss, the healthy child we thought that we had now will have extra challenges in life. It was also a relief, we now had answers and knew what we were up against.

When we got to Hawaii they did an MRI which definitely diagnosed her with NF1. Since no one else in the family had it they said she was a mutation. I felt so much guilt wondering if there was something that I had done during the pregnancy. They assured me that I had not done anything to cause it, but I still felt that I had let her down in some way.

How do you explain NF to a five year old?

A few years later a MRI showed that she had an optic glioma. How do you explain to an 8 year old why she suddenly needs glasses?

When your child talks about having children, how do you explain a genetic condition to them? What is a good age to do this?

What answers do you give to a child when she asks why did God make me this way? Someone at church told me to ask her why not you? I couldn't say that to my child!

Today Sarah is 16 years old. Most folks think that she is about 12 years old. She appears very young and will not get any taller then her 4'10". She gets frustrated because every time we go out to eat she is given a child's menu.

She has dealt with a lot of teasing at high school. In SC I had to pull her out of school because she was coming home in tears every day. We haven't had the same problem with her current school here in TX, but need to move back to SC over the summer. I may have to homeschool her if she has the same problems again. She is a peer tutor in the special needs class and wants to be a special ed teacher when she grows up.

School has been a challenge for her. In the first grade she graduated out of speech and they tried to take her off of her IEP. We got documentation that her LD's were caused by a medical condition and were able to get her IEP's based on a health impairment. She spent one year in a self contained class but was the highest functioning so was taken out. She receives very little interventions today. Mainly she gets extra time when needed. Receiving help in the resource room all those years has allowed her to keep up with her classmates. I could do an entire write up on IEP's since I have adopted three more kids that require them.

She has developed an allergy to die contrast because of her yearly MRI's to follow her optic glioma. She is terrified of needles and I am sure that being papoosed and given IV's at a young age was a contributor to that.

Sarah is a beautiful child with a huge heart. She has much more empathy for others then any of our other children. She has a gift of working with very low functioning special needs kids, but she doesn't see it that way. She hopes to adopt one day and understands her condition very well. Her story is still unfolding..................I love her very much.


  1. I saw your post on MckMama's blog frog. I have a friend who has NF1 as do 3 of her six kids (I think). She blogs and a ocuple of her girls set up a blog together.. I'm not sure about the kids blog address.. but mom's is

    She blogs VERY regularly but they're in DisneyWorld for a Make a wish trip right now and so it might be less over the next week or so.

    Hope you find this helpful.

  2. Thanks! I will have to check it out.

  3. Hey, I get Google Alerts for NF related topics and just wanted to share some resources with you. I promise this is the only time you'll hear from me. I know of several moms with kids with NF who blog. Here are a few of them. Hope this helps!

    There is also a "NF Mom's Rock!" group on Facebook where lots of mom's go to support one another if you use that site at all.

  4. Joe, thanks for the links, I will have to check them out.

  5. I hope you read older post. :) We too were slightly baffled when we found out about NF. I have a background in special education so I have advocated for an ISFP (an IEP for children under three) and we are getting physical therapy already. I'm glad you found my blog, and you have an awesome family. Children are such a blessing and joy!