People With Pompe Disease Speak Out on Nutrition, Exercise

by Margaret Wahl on November 1, 2007 - 9:00pm

QUEST Vol. 14, No. 6

(Note: For more on this topic, see “What Not to Eat.”)

Hank Santini, Hillary Gibson and Vincent DaSilva all have Pompe disease (acid maltase deficiency) and say they’ve benefited enormously from the advice they received on nutrition and exercise from metabolic endocrinologist Alfred Slonim, now at Columbia University in New York.

Slonim, a physician trained in pediatrics and endocrinology, has specialized in genetic metabolic diseases since the late 1960s.

From 1984 through 2004, he directed the N.Y. State Center for Inborn Errors of Metabolism at North Shore University Hospital in Manhasset, N.Y., and from 1999 through 2004, he also directed the Pompe Disease Center at that institution.

In 2005, Slonim joined the faculty in the Division of Molecular Genetics at Columbia University Medical College in New York. He’s also an attending physician at Columbia University Medical Center and North Shore University Hospital.

He’s the author of more than 50 scientific papers, 15 case reports and several book chapters.

Slonim received MDA research funding in the mid- to late 1980s and from 1999 to 2001.

Hank Santini, 53, is from Bolton, Mass., and owns several small businesses in the area. He has acid maltase deficiency (Pompe disease), which was diagnosed in 1989, when he was 34. He recently participated in a clinical trial of Myozyme, a replacement enzyme for acid maltase developed by Genzyme Corp. and approved in 2006. He’s been seeing Dr. Slonim for many years.

Q: What were you experiencing before you went to New York to see Dr. Slonim?

A: I was falling a lot and wasn’t able to get up. I was getting weaker and weaker, just heading down the tubes, until my son found Dr. Slonim.

Q: What did Dr. Slonim do?

A: I was in New York for three days. He hooked me up to monitors and put me on a treadmill. After I did the treadmill for about half an hour, two days in a row, at a very slow pace, he said, ‘OK, here’s what I’m going to have you do.’

Hank Santini and his wife Ruthie
In a photo taken with family at the San Diego Zoo, Hank Santini and his wife Ruthie are on the far right.

He referred me to a nutritionist, who gave me a menu of protein and carbohydrates. I also started taking ephedrine [a regulated stimulant similar to an amphetamine] 25 milligrams a day, and amino acids [protein components], half a teaspoon twice a day.

He started me on treadmill exercise. First I did 10 minutes at a very slow pace, 1.5 miles per hour. I went back six months later, and he saw I had made progress, so he bumped it up a bit. The highest I got to was 2.5 miles per hour. I’m now doing about 2.4 miles an hour on the treadmill for 42 minutes every day, and I go to the gym three times a week.

We’ve bumped up the ephedrine to twice a day.

Q: What are you eating these days?

A: I eat as often as I can. I’m constantly eating, rather than eating a lot at once. I eat chicken, steak, protein. At one time I was drinking a protein powder that you put in liquid, but it was pretty nasty. Now I do peanut butter in the morning. Globs of it.

I also drink three to four coffees a day with three to four sugars in each one. About 12 teaspoons of sugar a day. It helps my energy. I like Dunkin’ Donuts coffee with cream and sugar.

Q: Do you drink the coffee and sugar before you exercise?

A: I drink coffee before I do anything.

Q: How’s your weight?

A: I weigh 148 pounds, and I’m 5 feet, 7 inches tall.

Q: And your strength?

A: I’m weak, but I’ve gotten stronger, rather than weaker. I can’t get myself up off the floor. I need help to get up if I fall. But I’ve gotten a little better instead of worse.

I always look at the glass as half full, not half empty, but it wasn’t looking great [before seeing Slonim]. They told me I wouldn’t live to see my grandchildren. The way they looked at this and how they saw it, there was no hope.

I don’t think I would be talking to you if it were not for Dr. Slonim.

Hillary Gibson, 30, is a reading teacher with acid maltase deficiency (Pompe disease) who lives in Norfolk, Va., with her husband, Mark. She had a gastrostomy tube inserted in 2003, when she was 25, at the urging of Dr. Slonim. She’s receiving Myozyme infusions every two weeks.

Hillary Gibson
Hillary Gibson

Q: How did you get your diagnosis?

A: It took about six years for me to get diagnosed. I was diagnosed in 2002, when I was 24. I was having weight loss. I have irritable bowel syndrome, and they attributed the weight loss to that. For years, the gastroenterologist said to come back in six months.

I didn’t have too much weakness, and I didn’t notice I was out of breath. Everything changed, but gradually. Looking back, I can see that I had a hard time taking a really deep breath.

They thought there was something wrong with my liver. I got a liver biopsy, and it was fine. But in the muscle around it, the technician reading it noted that there were vacuoles [bubblelike spaces in cells] that shouldn’t be there.

I had further testing and then a muscle biopsy a year later. I also had a skin biopsy and a blood spot analysis. I lived in Indianapolis when all this was going on.

Q: When did you start your nutritional plan?

A: Dr. Slonim put me on a high-protein, low-carbohydrate, low-sugar diet and had me see a nutritionist who specializes in patients with Pompe disease.

When I started, my diet was two eggs for breakfast with a quarter cup of orange juice; a midday snack of yogurt or Boost [a nutritional supplement] or cheese cubes; a turkey sandwich for lunch with regular milk; and meat like steak or chicken, or fish, for dinner, with a sweet dessert.

They calculated my needs for grams of protein. I don’t really keep track anymore.

Q: What made you decide to get a gastrostomy tube?

A: I really tried to gain weight the good old-fashioned way, by eating as much as I could, but I would gain at a really slow rate, not fast enough. I weighed 95 pounds, and I’m 5 feet 10 inches tall. I didn’t like the way I looked.

I swore up and down that I would never get a G-tube. I didn’t want that kind of surgery. I thought it was weird and crazy, hooking yourself up to a machine to eat.

Q: But you did get one?

A: Yes. I was burning a lot of calories. I got the G-tube, for a constant flow of nutrition. I’m a picky eater, so now I can eat small meals and snacks during the day, and at night I set the pump [for the G-tube supplements] on drip.

I use shakes made for diabetics. They’re low in carbs and sugar and high in protein. People ask, Why can’t you just drink it? But they taste terrible, so they go in the G-tube.

Q: How do you feel about the G-tube now?

A: I’m really glad I did it. I was just not gaining weight fast enough. The weight loss had been so gradual that I didn’t notice I looked so thin. Now that I’m not that thin, I look back and see the difference. People don’t say that anymore. I’m a normal size now, and people I meet have no idea I have Pompe disease.

I weigh 130, and I look fine now. I put two Band-Aids over my G-tube on the beach.

Q: What’s involved in taking care of the tube?

A: The tube itself is about the size of a quarter of my pinky finger and lies flat against my skin. It’s a little uncomfortable.

It has a lid so I can flip it open and plug in the tube from the shake bag. The shake bag is disposable. It plugs into a tube that’s two feet long or so. I wash that every day and reuse it. It’s a pain to have to do these extra things.

The tube has to be replaced about every six months, surgically, in the gastroenterologist’s office. Every six months to a year I get a new one. I’m used to the G-tube now. The G-tube and exercise have been the best things for me.

Q: What kind of exercise do you do?

A: I do my treadmill in the morning four to five days a week, and I do Pilates once a week or so. I have stronger arms than my teacher does, but my abdominal muscles are very weak.

I don’t like to walk. I still tire easily and get out of breath, although I have more energy now than I used to. I hate hot, humid weather.

Q: What do you generally eat nowadays?

A: I don’t stick to the [low-carb, high-protein] diet as much as I used to. I just consider it. I don’t let it rule my life.

I might have one cookie instead of three cookies, or I’ll have a Snickers bar or a mini candy bar. I have a lot of milk every day, with a little bit of chocolate milk. I put cheese on everything.

I drink the light cranberry juice, and I have Coke Zero instead of regular Coke.

I always try to have meat with lunch and dinner.

I eat little meals, and I buy Atkins stuff. People who don’t know me think I have some kind of eating disorder -- a skinny girl looking at labels, buying Atkins stuff.

Q: How’s your strength now?

A: I’m a little weak. My legs don’t work as well as they used to. You can’t tell from looking at me that getting up off the ground is harder than it used to be. It takes me longer. When I cross my legs, I have to lift my leg with my hand.

My arms and back are strong, but standing for half an hour is torture.

Q: Is Myozyme helping, do you think?

A: I started Myozyme in September 2006. I try to set low expectations so that I’m not disappointed. I get an infusion every two weeks at a nephrologist’s office. It’s a good setup. I’m out of there in three and a half hours, and they have wireless Internet.

So far, I haven’t noticed changes. Maybe I have a little more energy.

My goal for Myozyme is to stay stable; that would be ideal. It would be nice if I got better, but if I stayed stable, I’d be happy. I worry about the future and what it holds. I want to be able to run and chase my kids on the playground.

Vincent DaSilva, 21, of New Windsor, N.Y., has Pompe disease and has had a G-tube since he was 5. He’s now a student at Siena College, near Albany, where he attends classes as a psychology major, lives in a dorm and works out in the gym, while maintaining his weight with overnight tube feedings. His younger brother, Anthony, 11, also has Pompe. He got his G-tube when he was only a year old. Both of them follow a high-protein diet as well, and both are in good health.

Vincent DaSilva
Vincent DaSilva

Q: Do you stick to your diet while you’re away at school?

A: I stick to a high-protein, low-carbohydrate diet almost all the time. Cafeteria food is not the most healthy thing in the world. They serve pizza, cookies and all, but I eat grilled hamburgers, hard-boiled eggs and omelets, which they also have.

Q: Do you ever eat sugar, just for a short-term energy boost?

A: Rarely. If I do, I make sure it’s right before I’m going to exercise. I can’t have root beer and ice cream at 11 p.m. But I do allow myself oranges fairly often.

Q: What happens if you allow yourself something sugary?

A: My body doesn’t function properly. My arms and legs start to bother me, and I feel like I’m not in control of myself. It feels like I’m weighted down, like a drunken episode.

Q: What supplement do you use in your G-tube?

A: I use Resource Beneprotein in water, and I set it up to drip overnight using an electronic pump. If I’m feeling run down, I add a daytime feeding. Generally, though, I feel good enough to run a mile and half and then work out at the gym for another half hour.

Q: What kind of tube do you have?

A: Tubes have come a long way since the early ones we had. Mine is called a Bard Button, and it’s a small tube that’s anchored on the inner side of the stomach wall and has a seal like a beach ball on the outside of the abdomen. When I use it for feeding, I plug it into another tube, using an adaptor.

Q: Does all this affect your social life or activities?

A: I don’t show signs of anything that couldn’t be considered an old sports injury, but people would be shocked to see what I have under my bed — treatment bags, connectors, pumps and medical tape.

In athletics, I’ve learned to compensate, to act like everybody else and do what everybody else is doing but without doing what everybody else is doing. On the soccer field or the basketball court, where other people would take 20 steps, you learn to take three right steps.

It’s a mind game. If you learn how to do certain things, you don’t need to use your body to get ahead in the world.

Q: Are you planning to take Myozyme?

A: I’m looking into it, but I’m not sure I’m going to go that route. I’ve always been a skeptic. With a lot of people, more so with adult patients, it [treating Pompe disease] isn’t a quick fix; it’s a constant, daily effort to exercise and eat well.

Even though we live in a society where people take diet and exercise more seriously, they’d still rather get an enzyme, an IV medication. [Ed. note: Slonim says keeping the muscles in good shape with diet and exercise might not only help patients function better but allow the muscles to benefit more from Myozyme.]

Q: Was it hard to grow up with this disease?

A: It was hard, but it was much easier than it could have been. It hasn’t been that bad. Looking back, it’s helped me mature and grow in a lot of ways. It makes you see what’s really important in life. In college, you meet people who have never experienced these issues in their lives.

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