An Introduction to Neurofibromatosis

Through the wonders of Facebook and Twitter, a great many of our friends and family know that we have spent a fair amount of time at doctors and in hospitals over the years. For many reasons, not just the one I outline in this blog post, I’m extremely thankful that we live in a city like Boston with such a wealth of medical talent and that we have health insurance. This blog will be a bit longer just to give a little background.

K Today - Opening Day 2010

Our daughter K is amazing. One of the happiest kids I’ve ever seen, her smile and giggle are infectious. I’m biased of course (and how many ugly babies do you really see?), but she is absolutely adorable: interactive with bright eyes and chubby cheeks.

K - Day 1

Born a little over three weeks early due to a high-risk pregnancy complicated with a placenta previa, she had a little trouble breathing, so spent a couple of days in the NICU, but progressed well and eventually was able to go home at the same time I did.

Even from the earliest appointments, when we were more focused on ensuring proper weight gain then anything else (a theme that has continued throughout her first year of life), the doctors commented on the cafe au lait spots that appeared on her body. I’ll save you the lengthy diagnosis process, but suffice it to say that K has now been diagnosed with a neurological condition called Neurofibromatosis or NF (type 1).

K during her EEG

It’s impossible to know how badly K will be affected by the disease, and many of her appointments to date have been diagnostic, often to confirm the diagnosis, establish a baseline, and to ensure that other issues that she has experienced such as poor weight gain, vomiting and shudders are not noticeably or directly a result of NF1.

To add another potential complication, she also has something called a Juvenile Xantho Granuloma (JXG), which is typically not something to worry about, but in combination with NF, has been correlated with significantly higher rates of leukemia.

So far, everything has been clear, and there is no reason to believe that she will have anything but the mild form of NF. We’ll continue to monitor her blood and keep an eye out for other symptoms, but other than seeing a few more doctors a bit more frequently than a typical child, we expect K to continue to be the happy, joyful little girl she is today.

If you’re curious, the following information is taken from the Children’s Tumor Foundation website:

Neurofibromatosis 1 (NF1) is also known as von Recklinghausen NF or Peripheral NF. Occurring in 1:3,000 births, web characterized by multiple cafe-au-lait spots and neurofibromas on or under the skin. Enlargement and deformation of bones and curvature of the spine (scoliosis) may also occur. Occasionally, tumors may develop in the brain, on cranial nerves, or on the spinal cord. About 50% of people with NF also have learning disabilities.

Most cases of NF1 are mild to moderate, but severe cases can lead to disfigurement; blindness skeletal abnormalities; dermal, brain and spinal tumors; loss of limbs; malignancies; and learning disabilities. However, approximately 60% of cases are mild, and another 20% are correctable. The remaining 20% have serious and persistent problems, indications of which are usually evident by adolescence.

If you’re interested in learning more about NF, I highly recommend the website of the Children’s Tumor Foundation: http://www.ctf.org

13 thoughts on “An Introduction to Neurofibromatosis

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  10. Well K was definitely born to the right mother! I know you will do everything you can to ensure that she gets the best care available! She is adorable and I hope to meet her in person one day!

  11. Brave little girl and a strong Mommy. I look forward to your ramblings about life and your beautiful little girl, Lorita … and the occassional political commentary. ; )

  12. Great question! We miss you! Maybe 29th or 30th? If I don’t talk to you this week, Happy Birthday, Jaclyn!!!

  13. K is such a brave little girl. Glad to hear that so far everything has been fine.

    When’s our next play date? 🙂

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