We decided to use Cedars-Sinai Hospital for our regular NF clinic and to take Zach there every couple of months for an MRI. The tumor showed some growth, but there was not a significant amount of clinical symptoms. He had some drooling and his eye was still wandering, but doctors said he has already lost that vision and doing chemotherapy would not bring back his vision. So they didn’t recommend chemotherapy at that point.


It went on like that for about two years. When Zach was almost six years old he started sleeping more and eating less. We were trying to figure out what was going on. It was definitely clinical at this point and the MRI’s were showing no real change.  The doctors were still reluctant to recommend chemotherapy. Zach was getting sicker and sicker. Then one neurologist said “Lets try Claritin to clear up some of the fluid coming out of Zach's mouth.”  The Claritin cleared up some of the swelling around the tumor and he looked better for a couple of months, even though the tumor was still growing.


After about four months Zach started bumping into things. He lost so much weight I started to freak out. The doctors at Cedars wanted to take the tiny tumor out and then do chemotherapy on the large tumor. It would have been a four month process. At that point I thought, “There’s no way he’s going to survive that.”


I called Children’s Hospital and started crying on the phone. They said “Come over here, right now.” I gathered all my big MRI’s and took them to Children’s. The doctors there had seen Zach in the beginning. We had gone to Children’s Hospital, UCLA and Cedars-Sinai to get their opinions. They all agreed it was NF, and it was a wait and see situation. When they saw the new MRI’s compared to the old MRI’s they couldn’t believe Zach was even walking.

The doctors agreed to put a port in Zach’s vein on the upper part of his chest and planned to do the chemotherapy. The port makes access to his veins easier. A week before we started the chemo, Zach couldn’t walk. He was dizzy when he stood up. So we gave him a steroid to reduce the swelling in his brain. The steroid helped a lot.


Then we started the chemotherapy. It took about three months before we started to see results. Zach was still on the steroids. The fluid started to clear up around his face. Shortly after he started the steroids, he was walking. As time went on the fluid cleared up and we started taking him off the steroids. Even though we didn’t see any change on the MRI, the chemo was clearly doing its trick. By October the tumor had shrunk a bit, so we took him off the steroids.


Zach stayed on the chemotherapy for two years. He gained weight right away and he started feeling better within the first six months. He did great with the chemo, which was a small amount over a long period of time. It’s a slow-growing tumor which is not like a malignant type of cancer such as breast cancer. NF is not normally a malignant  tumor. Although sometimes it can become malignant in older people. NF is the absence of one of the tumor suppressors and the tumors grow for no reason. We don’t know why.


Zach stayed stable for almost 5 years. Then last year, in the spring, I started to see some changes again. He started to slur again and his arm started to shake. When we looked at the MRI’s we saw no change. The MRI’s had been showing he was stable.


Last fall when we had our annual NF Walk, Zach gave a speech and his doctor was there.  She noticed some slurring. I called her at the hospital because I saw his arm was shaking while he did his homework at the beginning of the school term. After she heard Zach speak, she recommended doing another MRI. It didn’t show anything compared to the last MRI, but compared to one two years ago, it showed some slight growth. So, we put him back on the chemotherapy in October.


Within two weeks Zach’s slurring cleared up and his arm stayed steady. He’s been on the chemo since then. It’s now April 2010, so he’s been on the chemo for 6 months.  The doctors say he may be on chemotherapy for two years.  This is a normal protocol for Neurofibromatosis Type 1 (NF1), which is what Zach has.

Sharon - Tell us more about NF and what researchers are learning about it.


Joyce - NF is a series of three disorders. NF1, which is what Zach has, happens in one in 3,000 people.  That means about 2.2 million people in the world have NF1.  NF1 has at least two symptoms. One is cafe au lait spots, which are large light colored freckles around the neck, arms or groin area. Zach only had one cafe au lait spot when he was born and we never considered that it was an issue. It looks like a birth mark.


Another symptom of NF1 could be nodules on the iris of the eyes. They look like little white spots on the eyes, but they don’t show up on Zach. Another symptom is a tumor on the optic pathway, which is what he has. That shows in 20-percent of the kids with NF1 and in only 5-percent of the kids is it ever problematic or progressive. Zach happens to be in that 5-percent group.


The reason why we think the tumor is problematic with Zach is because it was problematic when he was younger and because he’s in puberty.  When he gets through puberty, studies show that he may not  have a problem with it again, ever.  Zach is 12 now.


Another symptom is plexiform neurofibromas, which can grow large and be on any nerves in the body.  Often they are on the arms, the face, the neck, or the spine.  There can be bone abnormalities with NF1 including weakness in the bones and joints.  And there are also skin neurofibromas which usually grow after a person is 20 to 25 years old. They’re small eraser head-sized tumors that grow on the face, neck, arms, chest or back. They’re small and very common.


Sixty-percent of the kids with NF1 also have learning disabilities. They usually include ADD or Autism Spectrum type of learning disabilities, social issues and spacial relations issues.  NF1 is caused by the absence of a protein that’s a tumor-suppressor. That means the factors for regulating cell growth are not working correctly.

There are many mutations that can happen with the NF gene.  The theory is that because there are so many NF mutations, few of the kids with NF look alike.  And, their symptoms are very different.

NF2 happens in one out of  25-thousand people. It’s much more rare and it’s more devastating than NF1. It usually happens in people between 13 and 21 years old. There are brain and spinal tumors that are quite progressive. A lot of people who have NF2 have hearing problems. The House Ear Institute works with these people. There was a show on MTV recently called “My Life” that featured a girl with NF2 who has multiple brain lesions and tumors on her spine. She’s in her early 20s. They also showed two kids who have NF1.


The third type of NF is Schwannomatosis. It’s a very painful disorder that involves tumors on the nerve sheath. it’s very rare. One in 40-thousand people have this disorder, which is hereditary. If you have it, you may pass it down to others. That’s the same with NF1. Fifty-percent of the people who have NF1 have it because it’s a gene mutation and the other 50-percent have it because a relative had it.  You have a 50-percent chance of having a child with NF if you have NF1.


Sharon - Does anyone else in your family have NF?


Joyce - No.  We think it’s a mutation in Zach’s case. Some older people may not realize that they have NF, but these days people are more aware of it. Most doctors know what NF is now. They just found the gene involved in NF in the 1990’s.


Sharon - Is the general population aware of NF?


Joyce - No, but awareness is very important and that’s why we’re having the Children’s Tumor Foundation 5K Walk on May first.


Sharon - Was there any indication of a problem when Zach was a baby?


Joyce - No, not until his eye started wandering. However, when I look back I can see there were some signs when he was in nursery school.  But other kids had the same issues. Some of his milestones were slow, although he was talking by one year. He also had some learning disabilities.


Sharon - How does Zach deal with his vision problems?


Joyce - Before we started chemo the first time when Zach was almost 6, he was legally blind in both eyes. He still is. It’s the only thing that hasn’t come back after the chemotherapy. Now Zach sees better out of the eye that was problematic in the first place. His left eye is 22-50 and the right eye its 20-200. He can read 16 point print and he holds the paper really close. Anything that’s 10 feet away or more is difficult for him to distinguish, but he does quite well close up. He can read large print books. His glasses help a little, with his astigmatism.


Sharon - What’s Zach’s daily schedule like?


Joyce - Zach is in a school for kids who have social and learning issues. It was difficult for him to sit through regular classes, and public schools weren't equipped well enough for his special learning needs. We have him in a school where he can work at his own pace. He has the same books as his twin sister and learns the same material she learns. It takes him longer and the teachers skip around to the main points.


Zach’s memory is fabulous. He has some short term memory issues, but his long term memory is amazing. He’s really good at some things and has deficits in others. He gets picked up in the morning for school with about six other kids. He’s in a class with other kids who are like him.  He loves his school.


Zach also does karate and he played on a soccer team for special needs kids last year. He has a lot of energy and loves to walk. He loves painting and art. At the Junior Blind Olympics, Zach got a gold medal for archery. And he got a bronze medal in the long jump.


Sharon - How do Zach and his twin sister, Cassie get along?


Joyce - Zach and Cassie are both in 7th grade. Giving Cassie the attention that she needs is always tricky. She’s involved in sports at El Segundo Middle School. She’s the pitcher and the captain of her softball team.  Cassie has tons of friends who are all very nice to Zach. He has his friends who are all very nice to Cassie. But they do have separate lives. The twins have a 19-year-old brother who goes to college and lives with us. The kids have a pretty normal life, other than going to Children’s Hospital and dealing with those things.


Zach does a lot of talking for organizations. He recently addressed 400 people at Casa del Mar for “Coach Art,” an organization that offers coaches to children with lifelong illnesses or disabilities. We’ve been involved with them since Zach’s first treatment at Children’s Hospital 7 years ago. 

Sharon - Tell us more about the Children’s Tumor Foundation 5K Walk on May first.


Joyce - It’s our 5th annual 5K Walk for the Children’s Tumor Foundation and it’s at Westchester Park on Manchester Boulevard. In addition to the walk, the Noisy Toys drummers will play for the walkers. They also invite anyone to join the drum circle. They’ve been with us for five years and are a regular part of the event.


My husband Ron (owner of Marks Audio - Video) sets up the AV system and before Noisy Toys arrives he plays Hawaiian music for us while we’re setting up.  TV weatherman Fritz Coleman will be the MC again this year. We expect a couple of the Laker Girls to come and sign autographs. The Storm Troopers from Star Wars will be there, along with R2D2. Last year the Star Wars Storm Troopers walked with everybody, wearing their outfits.


May is NF Awareness Month and that’s why we switched the walk from October to May. We may have a better turnout in May because we don’t have to compete with soccer.


Sharon - How many  people do you expect to participate in the walk?


Joyce - Several hundred. Our best turnout so far has been around 300 people and we hope to top that. We made almost $70-thousand on pledges from past walks. We’ll also have arts and crafts by Coach Art and lots of food and beverages. We’ll have a silent auction and a live auction of 7 beautiful art works created by the NF Team kids. The kicker from the New York Jets, Nick Faulk, will be there kicking a football around for the kids. Our city councilman Bill Rosendahl will be there along with Dr. Tena Rosser from Children’s Hospital.

Sharon - What will the funds you raise be used for?


Joyce - The Children’s Tumor Foundation has a large support system to help families. They have a web site and are active on Facebook. They sponsor events and fund research. They raise seed money for research. We give out $15-thousand and $30,000 awards to fund research projects. When the projects turn out well and get positive results, those results will buy them larger grants from drug companies. Our seed money can result in several hundred thousand dollars worth of research into NF.


Sharon - What’s the prognosis? Is a cure for NF a possibility?


Joyce - A cure for NF is a way down the road. Researchers are working on ways to stop tumors from developing and on the symptoms themselves. A cure will take a while. But any research into NF is also research into cancer, because NF creates tumors like cancer does.  Many cancer patients have problems with neurofibromas as well. So, when we donate money to NF research, it’s also going to cancer research.


Sharon - Best of luck with the Children’s Tumor Foundation 5K L.A. Walk and with the research that’s helping children like Zach live a long and healthy life!


Joyce - Thank you.