For Local BlogAn Undiscovered Path: A Child with Neurofibromatosis Type 1 (NF1)
By JoAnne Pastel
The Wednesday before Thanksgiving of 2008 was the day we received a call from our daughter’s Pediatrician telling us that a blood test resulted in being positive for Neurofibromatosis type 1, also known as NF1. She was 4 months at the time. As I listened on the phone, I was moved to tears and started feeling paralyzed with thoughts running through my mind. I started blaming myself, thinking; “What could I have done differently during my pregnancy? Did it happen because I am an older mother?”
The reason her Pediatrician suggested we take her to Children’s Neurocutaneous Clinic was because she had more than 6 café-au-lait spots (brown birthmarks) all over her body. I thought nothing of the spots because of her darker complexion. Café-au-lait spots are just one of the symptoms for diagnosing NF1. A blood test was performed and sent to a lab that specializes in Neurofibromatosis in Alabama. It took 8 weeks to get the test results back.
After our first visit with the Neurocutaneous Clinics at the Children’s Hospitals in Minnesota, we began learning about NF1 and found out it is a genetic disorder. Approximately 100,000 people in the United States have NF1. It affects approximately one in every 3,500 babies. NF1 touches all races and both sexes equally. About half of the all people with NF1 have inherited the gene that causes it from parents, the other half because of a change to the gene.
NF1 can cause skin changes as well as tumors (which are typically not cancerous) along the nerves in the body. There are other problems that can occur with NF1 like learning disabilities, high blood pressure, headaches and others that have not been listed.
She currently is 10 months and has a tumor that is growing on the back of her head. We are working with Children’s Hospitals and Clinics of Minnesota as well as Mayo Clinic Genetics and Pediatrics. She will be going through an MRI in July after she turns 1 year old.
My goal is to raise my daughter with confidence and a strong personality so if she does have visible tumors she will not be affected too much by the stares. There is currently no cure for it and every case of NF1 is different. It can affect a person very mildly to more extreme manifestations. I guess this is what scares me about NF1, I don’t know what to expect or what is going to happen. When I see photos and learn more about NF1 my heart becomes heavy for families that have been affected by NF1 or will be affected by it.
We would like to hear from other families that are affected by NF1 or if you know of someone that has NF1. Please comment below:
To learn more about NF1 visit the following:
The Children’s Tumor Foundation at http://ctf.org
NF Inc, http://nfinc.org
an organization that provides support, education and hope for families living with NF1
Book Covers from the award winning Bur Bur and Friend’s children’s book series: Bur Bur and Friends is a cast of multicultural characters who educate kids about self-esteem, sports, outdoor exploration and active play though their experiences.
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May 17th, 2009 at 7:18 am
I came across the link on Twitter while searching Neurofibromatosis. My daughter is two and a half and was just diagnosed this week with NF1. She has cafe au lait spots and a small spinal deformity but she was diagnosed by MRI. The MRI found several tumours along her spine and optic nerves. I have yet to meet with the neurosurgeon; my journey is just beginning but I feel just like you – guilty, afraid, shocked. Thank you for writing this. It’s so reassuring to know that I am not alone in this long, mysterious journey.
May 17th, 2009 at 10:38 pm
My family and I have learned about this disorder over the years. I was scared to have children myself because I have it. My sister and brother have it also. My brother at the age of six had a tumor on his brain somthing like a soft spot that babies have. One day he had a stroke and was in the hospital for a year. The two years later he had another stroke and he got better fast and now he is doing fine but keeps headaches alot.
I just turned 35 in march and I got pregant. Went to the doctor for a ultrasound and found out the baby was in my left tube. Once I got out of surgery the doctors told me that they had to removed my left tube and ovary because NF was covering them entirely and that I could not have children any more and if I tried the same thing will happen. The studies says that they may cause cancer well it dose. My grandmother and aunt both died from cancer because of different reason but NF played a big role in it because some were removed with out being tested for cancer first. So if anyone wants some removed please have the drained first and check for cancer before they get removed because they do cause cancer. Anyone can email if they would like to talk more about it I really do not mind.
May 21st, 2009 at 11:07 am
We have a 4 year old son who was diagnosed in Dec.08 with NF1. We had our 1st MRI in May 09 and found that he has several tumors on his skull as well as in his brain. We are awaiting the call from the neurosurgeon to see if we need to do something now or wait another 6 months and just “watch” the tumors. I, too, felt guilty but we know now that he has the non genetic form of NF1. Doesn;t make it any better, but the guilt has went away somewhat. What scares me the most, is never knowing what is going to happen next with the disease.
July 1st, 2009 at 11:25 am
My name is Jeffrey Gorder and I just found this blog via Twitter. I am the President of the CTF Minnesota chapter and wanted to reach out to say hello. We have a lot of activities (fundraising, education, patient and family support) going on right here in Minnesota and I wanted to make sure I reached out to you to extend an invitation to join our group.
My wife and I have a 3 year old son with NF. That’s why we started the Minnesota chapter. Hope to hear from you soon. We’d love for our Minnesota NF family to grow.
July 8th, 2009 at 9:01 pm
I’m glad to come across this website. Our son is three months old. When he was 7 weeks old, I was changing his diaper and noticed brown spots forming on his stomach, legs, and buttocks. Today, he has well over 20 cafe au lait spots that keep getting darker. They vary in size from small to large and have different shapes. He continues to form more spots, almost daily it seems. They are covering his stomach, back, buttocks, legs, and feet. So far, no spots have occurred on his arms or face. At the request of our pediatrician, we consulted with a geneticist who mentioned the possibility of NF 1. Just yesterday, an eye exam with a pediatric opthamologist indicated that our son has three such spots on the right iris eye that are distorting his pupil. My husband and I feel very sad and stressed by all of this. It is hard to look at our son and think of what could happen to him as he grows older because of NF 1. What a comfort to know that we are not alone in our journey forward. Hopefully we can find helpful support here in Spokane, Washington.
August 6th, 2009 at 12:25 pm
Hey there. I was doing some research and happened upon your site. My daughter has been suspected of having NF, possibly segmental, for the past three years. She is 11 now and we’ve been lucky so far. Touch wood. Still, I do believe I’d give up everything I own for a crystal ball, preferrably one that shows only good things. A lot of the moms say that NF is a rollercoast ride and that is an analogy that I keep in mind quite a bit. There are days when its a not-so-bad, gentle ride. Then there are days when something unexpected pops up and I find myself white knuckling it all the way. Sometimes its just a matter of taking a deep breath and holding tight and hoping the next hill isn’t too bad. I do truly believe that decent treatment are on the horizon!
All the best,
Cindy
August 31st, 2009 at 9:46 am
Hello!
My name is Mechelle, I am married with two children and I have NF1. Other than the spots and skin tumors I have never had any issues with my NF. Now that I am 32, more mature and comfortable in my skin (pardon the pun), I have started opening up about my condition. You see, I have been stared at off and on throughout my life.
I have come to realize that it is due to ignorance. In my humble opinion, the best thing you can do for your daughter is educate people so that she growns up in an aware world. She is beautiful and as long as you look at her that way, and never treat her otherwise, she will be okay.
We suspect that both of my children have it. We have not done the blood test because we realized that it will not change anything. It’s just $1500 (per child) out of our pockets! Their doctor keeps a close eye on them, though.
I understand that it is possible for a person who has NF1 to not pass it on, each pregnancy gives you a 50/50 chance of passing it on (or not). I also have been told (by a medical professional) that a person can present with symptoms, but never actually develop the condition.
I want you to know that I have had, and continue to have, a wonderful life. After I read you blog entry, I started asking myself why and it is because of my parents and how they approached NF. I was diagnosed when very little was known about the condition. The news my parents got was not positive. They chose to basically ignore the possible negative outcomes. I was never allowed to use NF as an excuse.
If you ever have any questions please feel free to ask me. I used to be very guarded about speaking out on NF, but lately feel perhaps my purpose in life is to help others who are touched by NF1. Have a fantastic day!
August 31st, 2009 at 5:42 pm
Sarah, My heart goes out to you and your daughter. We recently visited the Mayo Clinic with our daughter; they suggested we bring her back for a MRI in July. We have decided to wait until she gets a little older because at that time she will only have just turned one year old.
In late April, my husband and I attended a symposium on NF at the University of Minnesota. I was encouraged by what I learned and it helped to comfort me about all the unknowns of NF. There was a doctor from the Cincinnati Children’s Hospital that spoke of their determination to find a cure. She works with a team of people. We all need to contact our Congressmen and Senators so funding is not taken away given this is such a rare gene disorder. The doctor predicted a cure by 2020. I know that sounds like a long way off but this comforts me knowing they are doing lots of research on NF.
Shonda. Sorry to hear of your loss. One of the things I learned on my first visit to Mayo Clinic was that NF can run in families. I am curious to find out if one of your parents has NF? Also are there mild to more severe forms of NF in your family? Every case of NF is so different. This is what makes it so scary. Were you going to the doctor often once you learn of having it?
Jackie for your response. I agree that the unknown of NF1 and not knowing what is going to happen next is what makes it scary for me. My heart goes out to you and your family. Please keep us updated on your 4 year old. My daughter has a plexiform neurofibroma growing on the back of her head. We will probably have to have a MRI as she get older.
Lace Marie, I understand how you are feeling. As I continue to learn more about NF 1, I have come to the conclusion it is more common then I first thought. By this I mean, I am finding more and more people that have family member with NF 1 or know someone with it. This has help to comfort me and my worries about NF 1. I know every case is different but I don’t have that panic feeling like I once did. I hope you will find it too especially once you learn more about NF 1. Please keep us updated on your son and know you are in our thoughts.
Cindy, I completely agree with you. I also believe there is a treatment soon to come. Thank you for your comment and keep us updated on your daughter.
Hi Jeffrey, Thank you for reaching out to us. We would like very much to meet you and to learn more about the CTF Minnesota chapter. NF is scary for us because of the unknown. We look forward to the support of the local chapter.
September 1st, 2009 at 10:29 pm
My 11 yr old daughter has NF1. She was diagnosed when she was about 3. She has many cafe-latte spots all over, lisch nodules in her eyes and a while ago we noticed a neurofibroma growing on the side of her head behind her ear. Her dr set her up with a dermatologist on the 15th of Sept. (this month) Mariah (thats her name) has very short stature, has learning difficulties in school. But will sit for hours on end and read read read. She is a very quiet, sweet girl
she wants to be a veterinarian when she grows up. If anyone knows of special seminars for NF1 could you please let me know. Just this year I have started to explain to Mariah about her condition. I have signed up with the NF1 foundation so I can learn more about it and hopefully be an active part of the organization.
Mindy