Neurofibromatosis

March 2003

My son is almost three years old & he has five very small birthmarks (some may be ''cafe au lait'' spots). This may be an indicator of a genetic disease called Neurofibromatosis. My son has no other indicators. One spot on his arm is amorphous, two are oval shaped on his lower back & he has a tiny one on his thigh & on his side. They are about one quarter inch in length. He is a strong, bright and healthy boy but I can't rid myself of the nagging worry that he may have this disease. I saw a dermatologist at Kaiser who said that kids with the disease usually have more than 10 spots. We saw a Kaiser opthamologist who looked to see if he had an indicator that would appear in his eyes but he does not. Still the Kaiser Oakland genetics Dr said there was a 50% chance that my son may have the disease (one day). Now we have Healthnet & in May will see a Genetics Dr. at Childrens Hospital. The genetics counselor at Childrens that I spoke to on the phone was reassuring & said that some spots may not even count as ''cafe au lait'' spots as they are amorphous & not well formed.

My question to you all is this...does anyone have this disease or have a child with Neurofibromatosis? It is supposedly the most common genetic disease & I know symptoms can be mild. I would love to hear from any parents with concerns that their child may have NF or who do indeed have NF. THANKS, anonymous

Like your son, my son (2 and 1/4) has several cafe au lait spots, and, like you, we freaked out about the possibility of neurofibromatosis. (My son's spots include two oval shaped spots from birth, and then a few of various sizes and shapes that emerged within the first year and a half.)

We ended up seeing a specialist at UCSF and came away with a perspective I'd like to share.

First of all, you should know that you are NOT going to find out whether or not your son has NF from your Children's Hospital visit. NF is strongly suspected in kids with FIVE or more CALs of something like 5 mm or larger (pretty small), but not confirmed without a second symptom (including Lisch nodules on the iris, or freckling in the armpits or groin) or a first degree relative with the disease. You're just going to have to wait to see if any one of these secondary symptoms develops --or not.

If your son does have NF (which, again, you probably won't know for quite some time, if he does), the problems associated with it can be scary, but, statistically, are limited to manageable things. It is progressive, so the associated syndromes become more and worse as the person ages, but one hopes that the state of medicine in 30 or 40 years will be on our side.

If you haven't read the overviews, I'd strongly recommend that you check out these sites for the basic information: http://author.emedicine.com/PED/topic2418.htm http://www.nf.org/ and http://www.nlm.nih.gov/medlineplus/ency/article/000847.htm

I'd strongly recommend against reading discussion threads about the disease. These are written, generally, by parents of severe cases and will freak you out. If you read the basic informational stuff, you know what there is to know, and the counselors won't be able to tell you much more. Except perhaps that there are people with CALS who don't have NF.

For us, our powerful desire to have answers and to try to exert control over the questions raised by our son's CALs ultimately gave way to an acknowledgement that we can't and won't know if he has it. But, to coin a phrase, we now know what we don't know. It's a strong reminder that life is uncertain --for everyone. Hopefully, by acknowleding that, we can enjoy each other more every moment. In the meantime, we let our fever-pitch anxiety about NF go. It's a small nagging worry, but eclipsed by every joyful moment wtih our bright, beautiful boy.

I wish you similar calm in the face of unknowing. HZ

For the past several years my family has benefitted from the following very knowledgeable Kaiser MD's:
-Ronald Bachmann, MD, Oakland, Director of Genetics -Michael Gibbs, MD Neurologist, Walnut Creek -Dr. Kleider, Neurosurgoen, Redwood City -Dr. Logan, Neurosurgeon, Sacramento -Michael Jordon, MD, OB/GYN; Park Shadelands and Walnut Creek
As mentioned in a previous response, a great source is the web site at http://www.nf.org anon