I am so excited about The Marfan Foundation’s initiative to focus on the quality of life issues that affect our community. As the mom of a nine-year-old girl with Marfan, I think about my daughter’s quality of life — at present and in the future — on a daily basis. Quality of life encompasses so many things, and the area that has been a primary focus for us in the last year and where we have seen fantastic results is in nutrition and weight gain.
Being underweight is such a big issue for so many in our community. It seems there is a question weekly in one of the Marfan Facebook groups about how to help a child or adult gain weight. In some cases like my daughter Cassie’s, it can get very serious to the point where you are malnourished. A couple of years ago I entered Cassie’s height and weight into a pediatric BMI (body mass index) calculator online, and no joke, the message I got back was: “Take your child directly to the ER.” That was certainly shocking to see, but it didn’t seem to me at the time that there was anything I could do about it.
The other problem with being underweight is that it contributes to the lack of stamina that so many people with Marfan suffer from. There are other factors at play with stamina, but not having the energy stores that some fat can give you makes it worse.
Cassie had been underweight since she was a baby. She weighed a respectable 7 lbs, 11 ozs when she was born, but by a few months old, she was diagnosed as “failure to thrive.” (I wish the medical community had different words for this condition. I know it wasn’t meant this way, but it felt like such an indictment of me as a mother that my newborn baby wasn’t thriving.) With the FTT diagnosis, we added a GI (gastrointestinal) doctor and nutritionist to Cassie’s very long list of specialists. Along with breastfeeding Cassie, I was told to add formula to my pumped breastmilk for extra calories. And any formula-made bottle was made with double the amount of formula. I got so exhausted by all of the feeding and pumping that I stopped breastfeeding Cassie after six months, which was very disappointing to me.
Cassie’s growth stayed on track for the most part for a couple of years. The nutritionist and GI doctor told us to feed Cassie anything she wanted to eat—the more calories, the better. So Cassie became a kid who loved junk — there was a six-month period when she was around four years old during which she ate nothing but Kraft mac and cheese. Nothing green entered her mouth. She loved sugar and salt. Cassie was always on the thin side, but the line on her growth chart really started to take a nosedive when she was five years old. Her appetite wasn’t great and she was eating less and less. She was the kind of kid who would always rather play than eat. I think a huge part of the problem was that she had so little control over her body and not eating was her way of taking some of the control back. Food was always an issue in her life. We tried to keep our fears about her weight from her, but I know she knew since we did talk about how much she was eating and always encouraging her to eat more. She had one great eating habit, which was stopping eating when she was full. She could actually eat some ice cream and then push the bowl away when she didn’t want anymore, even if there was still ice cream left in the bowl. We were actually encouraging her to push through that feeling and keep eating. It felt so wrong (and, in fact, I thought that Cassie’s habit was the one I should adopt and not the other way around). It also didn’t work. She was eating so much ice cream that it started to feel like medicine to her and she began to refuse it. The thinner she got, the less she wanted to eat. I understand now that her body was malnourished and because of that, she had little appetite. She liked eating, but very small amounts and not a wide variety of foods.
Things grew more frightening after Cassie’s first spinal surgery (during which growing rods were placed to correct her severe scoliosis). This surgery was incredibly difficult to recover from. It made her mitral valve repair six months earlier look like a walk in the park. Cassie lost five pounds right after this surgery and, in the next year, she did not gain a single pound. All of her doctors started talking to us about placing a g-tube (which stands for gastrostomy tube and is a feeding tube that goes directly into the stomach). My husband and I resisted the g-tube placement at first because we did not want to “medicalize” our lives further than they already had been and we were not convinced it would make a difference. A little less than a year after Cassie’s spinal rod placement, we were back in the hospital for her first surgical lengthening of the rods. We requested a meeting with a GI doctor, and he told us that Cassie’s BMI was the lowest of any patient he’d ever seen. Even though I could see how thin Cassie was, hearing it in those words made us realize just how desperately she needed more nutrition.
Cassie’s g-tube was placed a couple of months later in September 2014 when she was 7.5 years old and weighed 37 pounds, and since that time I am very proud to say that she has gained 23 pounds! When I recently entered her height and weight in a pediatric BMI calculator, her BMI fell into the normal range! She was at the very lowest end of normal, but still — quite a difference from a message suggesting an urgent trip to the ER! Her stamina is still an issue, but it’s so much better than it was. Recently, Cassie was playing Wii boxing with friends and she went three rounds without stopping when she used to only be able to go one round. Sounds silly, but Wii boxing can really take a lot out of you, and it was a real measure of how much her stamina has improved. But it was not an easy road to get to where we are now.
After Cassie got her g-tube, the nutritionist in her GI doctor’s office told us that Cassie would have to take in 2100 calories per day in order to catch up to the weight where she should be for her age and height. At the time, Cassie was consuming fewer than 1000 calories per day, so more than doubling that seemed like an impossible task. And the nutritionist gave us no guidance about how to get the 2100 calories into Cassie. We started doing overnight feedings very slowly (100 ml per night, which is practically nothing) and gradually built up to 480ml. Cassie put on five pounds over several months, and then plateaued for quite a while. We simply could not get her above 42 pounds.
Around this same time, I was growing increasingly concerned about how much the food issues in our house were taking over our lives. My husband and I could not go a single day without talking about who was eating what and how much. Our older daughter has always maintained a healthy weight, but she has a much more natural interest in food than Cassie. It felt terrible to tell Cassie she could have ice cream for breakfast and to tell Penelope she couldn’t. As a woman with two girls, I am very aware of what this focus on food could do to their body image issues.
I spoke of this often with the therapist I see weekly, and she suggested that I speak to a nutritionist/therapist she knew who specialized in helping people with eating disorders get back to a healthy weight. Seeing this nutritionist, Hien Nguyen-Le, changed everything.
Hien helped me with how to talk about food in our family so that it didn’t feel as toxic as it had been. More than anything, she helped me realize that, while Cassie was not psychologically anorexic, she was physically and she taught us how to help Cassie gain weight.
Hien explained to me that when your body has been starving and you start to give it more calories, your metabolism revs up. It then gets used to the number of calories you are newly getting, and at the higher metabolism rate, you have to take in even more calories to make sure you don’t burn them all off. So as you start to add calories, at first you gain weight, but if you stay at the same number of calories, soon you will plateau or even lose weight. So, it is very important to keep adding calories as your weight plateaus.
Under Hien’s guidance, we added about 150 calories to Cassie’s daily intake. (Counting calories is a huge pain, but very necessary at the beginning of this process.) I weighed her every single morning using her dry weight (first thing in the morning when the person is naked and before eating anything) and I would email Hien every day with Cassie’s weight and the number of calories she consumed in the 24 hours prior. If she gained weight, even an ounce, we kept with the same calories for the next 24 hours. If she plateaued for more than two or three or lost weight, we added about 150-200 calories to the next 24 hours.
Cassie immediately started gaining a pound/week. Her body adjusted quickly to the change and we had no problems following Hien’s method. The change was truly remarkable. Her pants now stay up! So many people have commented on how full her cheeks are now. She is still thin and we are still working on getting her a little chunkier, but I no longer worry about her weight the way I used to. She has had six surgeries in the last few years and when she inevitably loses weight after a surgery, she can gain it back much more quickly. She is also more interested in food. Not only has her appetite picked up, but she is also more interested in trying different foods. She recently ate broccoli for the first time (and this is a child who ate not a single vegetable in her life), and said, “This is yummy! I don’t know why more kids don’t like broccoli.”
For us, the g-tube, which once seemed so scary, has been the best thing we could have done for our daughter. But gaining weight the way Cassie has is certainly possible without a g-tube — you just would have to consume all of the needed calories during the day, unlike Cassie who gets half of hers overnight while she sleeps.
Cassie’s quality of life has improved greatly with her added weight and stamina—what could be better for a nine-year-old than being able to play Wii longer than before? Her health has improved greatly, which of course is better for her quality of life as well. There is a lot I worry about as the mom of a child with Marfan, but the worry about her weight is off the table. And we don’t talk about food nearly as much in our house. And all of that is good for my quality of life too.
This is the first of three posts about nutrition, weight gain, and quality of life. The next two posts feature a Q & A with Cassie’s nutritionist, Hien Nguyen-Le.
Alix who lives in Madison, NJ, is a member of The Marfan Foundation's Board of Directors. Her daughter, Cassie, was diagnosed with Marfan syndrome in 2007.