Our life with Neurofibromatosis Type 1
This is Amy my daughter and she has NF 1
café au lait spots and neurofibromas (tumor)
All began in July 2007 when my daughter was born. She was born with two light brown spots right under her breast. The nurse explained to us that is normal and we don't have to worry about it, she called it café au lait spots. A over nine month later we notices that our daughter Amy couldn't sit or roll over to a side yet. and those café au lait spots increase over time in numbers and size. But doctors couldn't tell us what it is. All we got to hear was she is fine, it just takes her longer than other kids in her age.
It took four doctors and over three years to find out what she has. When we went to the last doctor he ask us a lot of questions.
It took four doctors and over three years to find out what she has. When we went to the last doctor he ask us a lot of questions.
- When did she start walking? ( 18 month)
- When did she roll over the first time? (10month)
- How many café au lait spots does she have? (at that time 3 big ones 5cm and multiply tiny once)
- When did she start talking in full sentences? (Not yet at that time)
Amy's MRI picture the white spot in the middle is a Tumor
Many question later and couple looks in a book, the doctor decided to do an MRI. He had a thought what it could be but didn't tell us until the results from the MRI are back. The MRI was scheduled for the end of April 2010 and we got the results a week later. We got a call to came in the office to talk about the results. Than I already new it can be good because he didn't say anything. A couple days later we got the appointment where he told us that our three year old daughter has Neurofibromatosis Type 1 (NF 1). First we didn't know what that means for us. Than we saw the pictures from the MRI and the doctor explains to us that she has an 19mm big Tumor on the Hypothalamus (you can see it on the picture to your right) and than he explains that she has multiple tinier once on the left optical nerve.
We were in shock for the first couple of days. But than we started to do research on NF 1.
We were in shock for the first couple of days. But than we started to do research on NF 1.
Our Research:
We searched the web for hours and days for information about NF 1. The first thing we found out that it is a Genetic Disorder.
The disorder is caused by a mutation in a gene on chromosome 17. The gene codes for a protein called neurofibromin. This protein regulates the activity of another protein called ras, which promotes cell division. When the NF1 gene is mutated, it usually leads to a shortened version of the neurofibromin protein that cannot bind to ras or regulate its activity. As a result, the ras protein is more active. Cells are told to begin dividing and never told when to stop, causing the formation of tumors.
Source: http://learn.genetics.utah.edu/content/disorders/whataregd/nf1/
The symptoms:
There is no case like the other. Varies from case to case. The main visible symptom are the café au lait spots and freckles.
Others may also have high blood pressure, bone defects, scoliosis (curvature of the spine), learning disabilities, Lisch nodules (benign growths on the iris of the eye), and optic gliomas (benign tumors on the optic nerve that connects the eye to the brain).
Source: http://learn.genetics.utah.edu/content/disorders/whataregd/nf1/
We searched the web for hours and days for information about NF 1. The first thing we found out that it is a Genetic Disorder.
The disorder is caused by a mutation in a gene on chromosome 17. The gene codes for a protein called neurofibromin. This protein regulates the activity of another protein called ras, which promotes cell division. When the NF1 gene is mutated, it usually leads to a shortened version of the neurofibromin protein that cannot bind to ras or regulate its activity. As a result, the ras protein is more active. Cells are told to begin dividing and never told when to stop, causing the formation of tumors.
Source: http://learn.genetics.utah.edu/content/disorders/whataregd/nf1/
The symptoms:
There is no case like the other. Varies from case to case. The main visible symptom are the café au lait spots and freckles.
Others may also have high blood pressure, bone defects, scoliosis (curvature of the spine), learning disabilities, Lisch nodules (benign growths on the iris of the eye), and optic gliomas (benign tumors on the optic nerve that connects the eye to the brain).
Source: http://learn.genetics.utah.edu/content/disorders/whataregd/nf1/
Some Facts:
Neurofibromatosis Type 1 happens 1 out of 3,000 to 4,000 people world wide. If you have it there is a 50:50 change that you will give it your children. Some people have it and never notice it their hole life and than of course there are some people out there who have the tumors (usually noncancerous) every where the body has nerves. The Lisch nodules on the iris of the eye doesn't effect the vision at all. But the tumors can appear on the optical nerves what could effect the vision. Most people with NF 1 have learning disability, ADHD, and normal intelligence. And one fact what bother me the most is that there is no cure for it yet. Even it is a genetic defect. You may think one of the parents must have it too. But that is not the case even if both parents don't have it a child can get it because it is a mutation of a chromosome and can happen to anyone.
Neurofibromatosis Type 1 happens 1 out of 3,000 to 4,000 people world wide. If you have it there is a 50:50 change that you will give it your children. Some people have it and never notice it their hole life and than of course there are some people out there who have the tumors (usually noncancerous) every where the body has nerves. The Lisch nodules on the iris of the eye doesn't effect the vision at all. But the tumors can appear on the optical nerves what could effect the vision. Most people with NF 1 have learning disability, ADHD, and normal intelligence. And one fact what bother me the most is that there is no cure for it yet. Even it is a genetic defect. You may think one of the parents must have it too. But that is not the case even if both parents don't have it a child can get it because it is a mutation of a chromosome and can happen to anyone.
Amy just coming from the optometrist
Our Life with NF 1:
Since we know what she has it made our life easier with her. We understand better why she may need more help than her brothers. And we can help her better out. The smile on her face every day makes it very easy to forget what is going on in her body. But when it is time for her regular doctor visit the reality has us back. Every year she has to get an MRI done to check if the tumors in her head are growing and if they do how fast. Than she sees a optometrist once a year, neurologist once a year, and a genetic doctor every year. Her normal check ups like every kid has comes to that also. How you see we spent a lot of time either in the hospital or in an doctors office. Her immune system is weak she gets sick more often than other children her age. She has allergies, and she is Lactose intolerant. Amy is turning 7 years this year(2014) and goes in first Grade. We had to fight really hard to get a good school for her special needs. The first school she went to didn't understand why she is how she is. With behavior problems and slow in learning, sometimes she even forgets. Than I heard about a self contain classroom where the teacher student ratio is 3:10. This classroom is not just like any standard classroom it helps children with special needs to learn reading, writing, and Math in there own time frame. How I said my daughter is in first Grade right now but she learns Preschool/Kindergarten standards right now. Doctors can't really help us and that is frustrating. The last time we saw the neurologist she told us because the tumor is sitting on the Hypothalamus we should expect that our daughter could go into puberty really early or really late or not at all. That was a shock, the thought that my 6 year old daughter may start her menstrual cycle soon and she doesn't understand any of it. But it comes how it comes and we have to deal with it when the situation comes up. So long she is happy we are happy.
Since we know what she has it made our life easier with her. We understand better why she may need more help than her brothers. And we can help her better out. The smile on her face every day makes it very easy to forget what is going on in her body. But when it is time for her regular doctor visit the reality has us back. Every year she has to get an MRI done to check if the tumors in her head are growing and if they do how fast. Than she sees a optometrist once a year, neurologist once a year, and a genetic doctor every year. Her normal check ups like every kid has comes to that also. How you see we spent a lot of time either in the hospital or in an doctors office. Her immune system is weak she gets sick more often than other children her age. She has allergies, and she is Lactose intolerant. Amy is turning 7 years this year(2014) and goes in first Grade. We had to fight really hard to get a good school for her special needs. The first school she went to didn't understand why she is how she is. With behavior problems and slow in learning, sometimes she even forgets. Than I heard about a self contain classroom where the teacher student ratio is 3:10. This classroom is not just like any standard classroom it helps children with special needs to learn reading, writing, and Math in there own time frame. How I said my daughter is in first Grade right now but she learns Preschool/Kindergarten standards right now. Doctors can't really help us and that is frustrating. The last time we saw the neurologist she told us because the tumor is sitting on the Hypothalamus we should expect that our daughter could go into puberty really early or really late or not at all. That was a shock, the thought that my 6 year old daughter may start her menstrual cycle soon and she doesn't understand any of it. But it comes how it comes and we have to deal with it when the situation comes up. So long she is happy we are happy.