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Pa. physician and mother of a boy with a rare disease dedicates her life to funding gene therapy research | 5 Questions

A.J. Henwood is 9 years old and obsessed with baseball. He also has a rare disease known as NF2 – formally, neurofibromatosis Type 2.

Nicole Henwood, with her son A.J., in Boston. A.J. has a rare disease known as NF2.
Nicole Henwood, with her son A.J., in Boston. A.J. has a rare disease known as NF2.Read moreCourtesy of Nicole Henwood

A.J. Henwood is 9 years old and obsessed with baseball. He wants to play for the Phillies someday. He plays the trumpet. He loves animals and has three dogs, two turtles, 10 chickens, and a pony.

He also has a rare disease known as NF2 — neurofibromatosis Type 2.

There is no cure. But A.J.’s mother, Nicole Henwood, has dedicated her life to finding one. In addition to being an anesthesiologist at Premier Orthopedics in Exton, she has founded a nonprofit, NF2 BioSolutions, which seeks to accelerate gene therapy research for NF2.

There also is the more common NF1, which can range widely in severity, from benign skin patches to serious tumors requiring surgery. It, too has no cure currently, but clinical trials are ongoing.

We spoke to Nicole Henwood recently about her work.

Tell us about NF2.

My NF2 odyssey began in early 2018, when A.J. was diagnosed. He was 6. During a routine ophthalmology visit, the doctor noticed what looked like a spot on his retina. It didn’t look normal. We wound up going to see Carol Shields, an ophthalmologist at Wills Eye Hospital. It just so happened that she’s one of the few ophthalmologists in the country who has published papers about the NF2 eye. They did lots of tests, but she could pretty much tell from the eye exam that he had NF2.

NF2 is caused by a gene mutation. We have about three million pairs of DNA in our bodies, and he’s missing four of the pairs in the NF2 gene. That gene makes a specific protein, and when it is missing, that allows tumors to form in the body.

These tumors grow mostly on the nervous system. They can be in the brain, on the spine, on the peripheral and cranial nerves. And in a person’s eye. The most common spot is on the hearing nerves. Almost every patient has tumors growing on both hearing nerves, so they end up going deaf. But they can be on nerves anywhere in the body. In addition to loss of hearing, there can be a loss of the ability to walk, to speak, to swallow, to see. Our whole bodies are run by nerves. The tumors just shut down those nerves. It’s a truly horrible disease.

In people born with the mutation, the tumors begin forming early in life, but initially they don’t usually cause problems. As the child grows, that’s when symptoms appear.

What is the current standard treatment?

Unfortunately, all we can do is observe. You can sometimes surgically remove the tumors, but they grow into the nerves. When you take them out, you pretty much cut the nerve underneath. So the surgery is almost as bad as the tumor. Pretty much the only time to resort to surgery is when the tumors start pressing into other organs or causing pain. These tumors cause pain because they grow on nerves. It is a very painful disease.

Right now, A.J. is doing pretty well. His tumors are small. But he has at least 30 tumors, so we know there are lots and lots of problems to come.

Would gene therapy be a game changer?

It would absolutely be a game changer. In some diseases, like diabetes or hypertension, many genes are involved. But with this, it’s just one gene that is mutated. If we could fix that one, we could essentially stop the disease.

So far, it seems that we might not be able to get rid of the tumors that are already there, but we could stop them from growing more, and stop new ones from forming. In an asymptomatic person, if you stop the tumors from growing, it would essentially be a cure. It would stop the disease from causing harm. You could stop it before they lose their hearing or can’t walk anymore.

How far along is the research?

The foundation is raising money to fund the research. We are working with three primary labs. We are also sponsoring a tumor bank at Children’s Hospital of Philadelphia. When patients have tumors removed, we deposit them there. It’s an open-access biobank, meaning that any research lab that wants to study the disease can request samples of tumors. They look at all different things — the DNA, the RNA, the mutations, the proteins.

All three labs have slightly different approaches. But they all build on other gene therapies that have been approved by the U.S. Food and Drug Administration for other diseases. In fact, the first gene therapy in the U.S. was out of CHOP. That was for an eye disease.

» READ MORE: FDA approves Spark's gene therapy for rare blindness pioneered at CHOP

Gene therapy is extremely expensive. One disease, called Spinal Muscular Atrophy, became famous because it was the first gene therapy approved in the U.S. for the whole body. It also made news because it was the most expensive treatment in history. A onetime treatment was $2 million. There was a lot of controversy about that, but it was such an advanced technology.

So far, for NF2, we have developed what we think will work. It’s been tested for safety. The next step is to test in animals, to see if we can cure NF2 mice. Then we would apply to the FDA to start clinical trials in humans.

The current estimate is that it takes about 10 years from conception of a therapy to reaching the market. We’re about two years in. But it can go faster if the funds are there. And the science obviously has to work. But we think it will work.

What now?

It’s not possible for a single foundation to raise the money needed. Another estimate is that it takes $100 million to get a therapy all the way through FDA approval. Commonly, a foundation will jump-start the research. We have done that. Our initial investment was $300,000. If all goes well, a biotech or pharmaceutical company will license it. Once they have the rights to it, they will pay the rest and recoup the investment when they sell the treatment at the end. So we need to find a partner.

Basically, this is all-consuming for me. I still work as a physician four days a week, but as for my free days, nights, weekends, this is pretty much all I do. It’s a terrible place to be in. I miss a lot of things with my kids. A.J. has an older sister, Brooke, who does not have the disease. But someone has to do it. And if I don’t do it — if we don’t get a therapy for A.J. — I’ll regret it.

It’s a race against the clock. Truly. He’s 9. The average life span for a person with this disease is about 30, although some die as young as 18. It took me a while to grasp this, but because there are so many tumors, most patients end up with a breathing tube and a feeding tube. They end up succumbing to overall tumor burden. Or they get aspiration pneumonia or sepsis — things that come with being chronically ill — or the tumor presses on a blood vessel and there’s a stroke.

But I do have hope. I do. I wouldn’t be doing this if I didn’t. I have strong hope that we’ll have a therapy for A.J. so he can have a healthy life.

I’m encouraged by the progress in the lab. Plus, we seem to be at a turning point with genetic diseases. Progress has exploded over the last two to three years, compared to decades prior.

My biggest issue — and I’m really struggling with this — is the concept that these rare and ultrarare diseases are left to the parents. I wish there was something out there — the government, hospitals, insurance companies — to take over so the parents of these sick children could have more time with their children. The system seems broken to me, that the parents who should be spending every minute they can with their children have to fund-raise and fight for help.

For more information about NF2, as well as patient stories and a donation link, visit