No one could have imagined that anything was wrong when Brenda was born. She was such a beautiful baby. She grew and grew but the Pediatrician thought something was wrong with her leg at the time of her 9 month check-up. After X-rays we were told she had a green splint fracture. How could she have broken her leg? In reality it wasn't broken. We soon found out it was just the tip of the iceberg. She has Pseudoarthrosis in her lower right tibia. Pseudoarthrosis is one of the signs of Neurofibromatosis.
Around this same time we were referred to a geneticist since they suspected she has Neurofibromatosis (NF). We were devastated, like living in a nightmare.
NF means that tumors grow throughout the body and can lead to learning disabilities, blindness, deafness, broken bones and cancer. NF means every cell in your body is running too fast, dividing and causing tumors to grow. NF affects 1 in every 3000 births and can happen to anyone. Anyone's next baby can be born with NF. There are no treatments and no cure for NF. It is one of the most prevalent genetic disorders. It strikes people of all races and ethnic origins worldwide and both sexes equally.
Any day we knew she would break her delicate leg. The weak spot always in the back of our mind.
Just before we had our scheduled appointment to find out if she was in fact a carrier of Neurofibromatosis she broke her leg. A long nightmare of a weekend ensued. Social services got involved and in the end she was released back into our care. The next week she was clinically diagnosed NF-1. She also began manifesting speech delay at this time. All that before her second birthday. Then less then 9 month later over the thanksgiving weekend she broke her leg for the second time. The prior break had never healed properly which is common in cases of Pseudoarthrosis. She was scheduled for surgery and in December of 2006 the infected portion of her bone was removed and a piece from her hip was inserted along with a rod. She spent the next 2 1/2 months in a cast (designed so she could not walk). Daily blow drying was performed to mitigate any rashes or infection.
Brenda is now 5 and has begun kindergarten and learning all that she can. She is smart and bright. She is picking things up so quick it is just amazing. The good thing is there are no signs of Learning Disabilities (50% of people with NF show signs of Learning Disabilities). She wears a brace everyday and can get around on her own. She runs slower than the other kids and can fall easily. She needs the brace because her leg is still very fragile. Pseudoarthrosis is a very unique condition. The healing is slow and incomplete and there is no cure. We consider her orthopedist Doctor Weinart as a miracle in her life. Without his efforts she could have lost her leg.
She needs be very careful at play time. No monkey bars, soccer, ballet, she is not able to ride a tricycle… she tries, but the brace limits the movements of her leg. If she goes to a birthday party, she only can look at the other kids in the bounce house.
The Good news is that the last time she saw the orthopedist he mentioned that the growth in her leg is so good she has a chance of not needing the brace any more in 18 months or so.
Still, she is a very happy adorable little girl. She enchants all that know her. We are so blessed for having Brenda. Our faith makes us stronger to deal with NF. We try to focus on the things that she can do. She loves books, dolls and play dress-up.
Each year she will see the geneticist and eye doctor on top of the other specialists to make sure nothing else is happening. The risk of her developing tumors is always present.
She had a spinal X-ray to check for Scoliosis. Nothing to worry about at this time.
Now we do all we can to raise funds for research so that Brenda and other children like her can have a better life. Ask us about some of the great research Children's Tumor Foundation is supporting to resolve Pseudoarthrosis and related bone deformities.
http://www.ctf.org/For-Scientists/young-investigator-awards.htm
They also support on going research for NF related problems like tumor growth, cancer, and learning disabilities.
Thank you for your support and prayers for Brenda. Spread the word. We shall not rest till NF (neurofibromatosis) is a household word. Please consider making a donation to make sure Brenda can have her name on the Porsche car again.
Consider making a donation in someone's name. Could your legacy be the donation that found the cure? We can not reach our goal without your help. |
