The treatment of maple syrup urine disease (MSUD) requires daily, consistent medical food (formula) consumption. Compliance with formula intake can be a challenging aspect of the treatment. Children and adults with MSUD may be vulnerable to behavioral, emotional, and medical problems that can interfere with daily activities including formula consumption. 1 When illness occurs, lack of appetite can make it difficult to consume medical food. The pressure to take the formula multiple times a day can be exhausting, overwhelming and discouraging for the family and the person with MSUD.
As a result of these obstacles, some families decide to move forward with the placement of a gastrostomy tube (G-tube) to alleviate some of the stress that is associated with daily formula consumption and formula intake during illness. Making the decision to have a G-tube placed can be difficult for families. The goal of this article is to discuss points to consider when making the decision to have a G-tube placed and to share feedback from two families that have experience with MSUD treatment and the use of a G-tube.
The Perceived Barriers and Challenges:
When the medical team becomes aware of the struggle around consuming medical food, they often recommend G-tube placement to the family of a child with MSUD or to an adult with MSUD. The decision making process can often be characterized as a time of uncertainty, stress and conflict. Some people perceive the need or the consideration of a G-tube as a loss of normality, a sign of disability, or a sign of failure. 2 These are perceptions that often keep families or people with MSUD from making the decision to move forward with G-tube placement.
There are several common barriers or misconceptions that prevent families from feeling comfortable with the placement of a G-tube. One example is the belief that a G-tube will limit the ability to be physically active. Tube feeding itself should not limit a person’s ability to be active. Even swimming is possible with a G-tube! Another misconception is that once the G-tube has been placed the individual with MSUD will never drink formula again. Some children and adults with MSUD choose to drink their formula on a regular basis and only use the G-tube during illness. Others use their G-tube for daily formula intake and know that there is also the option to drink it by mouth. A final misconception is that a G-tube is forever. When an individual has shown the ability to consume their medical food consistently and without difficulty, they may consider the removal of the G-tube. This decision is usually made in collaboration with the medical team. The removal of the G-tube does not require surgical intervention in most cases, because the G-tube site will usually close on its own once the G-tube is removed. 3
Quality of Life:
G-tube placement is one way to be proactive in the adherence of dietary treatment of MSUD. Infants, children and adults with various medical conditions, including MSUD, have G-tubes and use them as a tool to help them be successful in their medical treatment. A quality of life study was conducted in children and parents affected by inborn errors of metabolism (IEM) who had a restricted diet. Of those who participated, 24% of the families in the study were MSUD families. The study used questionnaires to assess both the child and the parent’s quality of life in several different categories. The study data showed that the score for psychological well-being was higher in children that had used a type of enteral nutrition (tube feeding) at some point. The parents of children that had G-tubes also reported higher scores for physical health and social relationships. It has been reported that a G-tube can decrease parent’s stress around the care of their child. 4
Below is an excerpt of conversations with two MSUD families discussing their experience with deciding whether or not to place a G-tube and the process they went through in making that decision.
What was the hardest part about deciding to get the G-tube placed for your son?Support and Resources:
Family 1: Our team would ask about placing a Gtube from the time Mason was two years of age. I would always say NO! One of my biggest issues in the beginning was I thought it would be extremely noticeable. It’s small, you barely notice it.
How has getting the G-tube changed your MSUD management?
Family 1: It was a struggle to get Mason to drink his milk. We would bribe him and spend many hours getting Mason to drink his milk. Mason, who at the time was six years old, is the one who really made the decision that it would be a great idea, so we had the G-tube placed. This has made the management of MSUD a whole lot easier. It makes a big difference when he is a little sick or levels start to go up, we can manage at home a lot more than having to be put in the hospital. There are no more battles with Mason to drink his milk. We just put it into his G-tube and we are done. This process takes all of three minutes if that. We are able to focus on fun things to do and not worry if he is getting enough or all of his milk. Mason is now thirteen years old, he is able to do his own milk. He has been doing this since he has been in second grade.
Is your family’s quality of life different since the Gtube placement?
Family 2: Our son was diagnosed at birth through new born screening; we put in the G-tube just after he turned three. It’s really taken the pressure off our son. The quality of life is much better. Talking about MSUD with an almost six year old is tricky; the G-tube sort of adds another layer to understand, but the day to day is easier. We use the tube as back up and we were able to loosen our schedule because of that. I remember the first time we really felt like we benefited from the tube was that 4th of July. We stayed out late to watch fireworks. We were a little off our strict routine. When we got home he went to sleep and we fed him through the tube. He really loved the fireworks, and had a blast. We saw him feeling kind of free in the moment for the first time.
What would you tell a family or person with MSUD who is contemplating getting a G-tube?
Family 2: I would have made the decision quicker. It still would be hard, but sometimes with a life threatening medical condition your brain has to call the shots and the heart has to catch up later. My heart is still catching up sometimes, mostly when I have to entertain my son’s questions, but he doesn’t remember his life without the G-tube.
The decision to place a G-tube can be difficult for parents to make. Therefore it is imperative to develop a positive and supportive relationship with the metabolic team. Collaboration and good communication with the medical care team is critical. It is important to have ample time to ask appropriate questions about the use, the purpose, and the placement procedure of a Gtube. Answers to these questions may greatly relieve any fears or concerns. Emotional support from friends and family through the decision making process is also important. 5 Several G-tube focused support groups are available. The Feeding Tube Awareness Foundation http://www.feedingtubeawareness.com has a great parent guide to help navigate some of the commonly asked questions about G-tube use. Speaking with another family that has G-tube experience can also be helpful for support in making the decision.
The treatment of MSUD requires daily medical food consumption which can create challenges with formula intake compliance. Infants, children, and adults with MSUD use G-tubes as a tool to be successful in their medical treatment. A G-tube is one way to be proactive in the adherence of dietary treatment of MSUD. Ample support from family and the medical team through the decision making process about G-tube placement is essential.
- Packman, W. et al. (2007) Psychosocial Issues in Families Affected by Maple Syrup Urine Disease, J Genet Couns., 16, 799–809
- Mahant, S., Jovcevska, V., & Cohen, E. (2011) Decision Making Around Gastrostomy-Feeding in Children with Neurologic Disabilities, Pediatrics, 127 (6), 1471-81.
- Crawley-Coha, T. (2004). Journal of WOCN, 31 (4), 193-200.
- Fabre, A. et al. (2013). Assessment of quality of life of the children and parents affected by inborn errors of metabolism with restricted diet: preliminary results of a cross-sectional study, Health Quality Outcomes, 11:158 http://www.hqlo.com/content/11/1/158
- Burd, A., & Burd, R. (2003). The Who, What, Why and How-To Guide for Gastrostomy Tube Placement in Infants, Advances in Neonatal Care, 3 (4), 197-205.