Why Pompe Disease?
Recently, Aging In Place Builders had the privilege of building a fully accessible bedroom/bathroom addition for a fantastic client with Pompe Disease. Although we have helped many clients with various illnesses or diseases, this was the first time we had encountered Pompe Disease. One of the very first steps we take with any client is to discuss the current and future health situation - What health problem do you currently have? Will things get worse and how long do we have? Do you want to remain in your home with some modifications?
Naturally, our curiosity was piqued as to what this disease was all about and how we could help our client in the most effective way possible. This article outlines a summary of the information we learned and how we used it in our designs.
What is Pompe Disease?
Pompe disease is an inherited condition, passed down from one generation to the next through a family's genes. According to Pompe.com, it is extremely rare, affecting 5,000 to 10,000 people in the world or approximately 1 in 40,000 people. It occurs in men and women equally, though certain populations are at a higher risk than others.
Pompe disease occurs when our body is unable to break down a substance called glycogen into other simple sugars, such as glucose. Instead, the body begins to store excessive amounts of glycogen in the muscles, specifically skeletal muscle, smooth muscle, and cardiac muscle. This hinders muscle function, leading to many complications. As soon as we learned this, we knew our main focus was to create first-floor-living so as to mitigate strenuous movement.
According to the National Library of Medicine, Pompe Disease has three classifications:
- Classic Infantile Onset - The symptoms occur only a few months after birth and include muscle weakness, poor muscle tone, an enlarged liver, and heart defects. It often causes Failure to Thrive or FTT, a condition in which the child is unable to gain proper amounts of weight. Breathing difficulties are also present. If left untreated, it will lead to heart failure and death within the first year of life.
- Non-Classic Infantile Onset - This form takes longer to appear but symptoms are noticeable by age one. Children will have delayed motor skills and muscle weakness. An enlarged heart is also common, though it doesn't usually progress to heart failure. Due to muscle weakness, these children experience breathing problems and life expectancy is brief.
- Late Onset - This type of Pompe Disease will appear later in childhood or adolescence. Some don't show symptoms until adulthood. This form is milder than the infantile forms and doesn't tend to involve the heart. However, muscle weakness progressively worsens as the person ages. This classification is where our client fits into the mix.
Because Pompe disease's effect on muscle is widespread throughout the body and its systems, doctors refer to it by different names and categories. Pompe disease is:
- A neuromuscular disorder because of its effect on skeletal, respiratory, and cardiac muscle. This causes neuromuscular dysfunction and impairs movement.
- A genetic disease because it is a defective gene passed down through families that causes the disorder.
- A glycogen storage disease because it manifests due to improper breakdown and storage of glycogen.
- A lysosomal storage disorder because the part of the cell that stores the glycogen is a lysosome.
- A metabolic muscle disease because it involves problems with the metabolism (or breakdown) of substances inside the muscle.
- A cardiac disorder because of its effect on heart function in infants.
Living With Pompe Disease
Once diagnosed, Pompe disease is treated in a variety of ways. The most important treatment is Enzyme Replacement Therapy, giving the body the needed enzyme to properly break down glycogen. Other types of treatment include Physical/Occupational/Speech Therapies, orthopedic devices, and nutritional supplementation. All treatment needs tailoring to the patient's needs. Despite these treatment options, Pompe disease is progressive, meaning it gets worse over time. However, the speed of progression varies with each person. Infantile-Onset Pompe Disease tends to progress faster than those of a later onset and death occurs sooner. Adult Onset produces muscle weakness that eventually creates the need for ventilators and wheelchairs.
Because of the degenerative nature of this illness, accessibility becomes a major concern. Certain changes within the home will increase safety for the patient while allowing them to remain as independent as possible. As we designed the bedroom/bathroom addition for this client, we listed out the most relevant accessibility features that we needed to include:
- Make all entrances to the addition accessible: We built a custom interior ramp hallway, used low threshold doors, and installed a mechanized Wheelchair Platform Lift from the garage.
- Ensure easy door operation: We installed remote-control automatic door openers on all three of the exterior doors as well as used knobs/handles that were tested by the client to ensure they were comfortable.
- Choose flooring with adequate traction: We used a durable vinyl wood plank flooring that was extra grippy, plus looked nice. We also used bathroom tiles with a high anti-slip coefficient.
- Install adequate grab bars: We installed a total of 12 stylish grab bars in the bathroom alone, all placed at specific heights and locations for the client.
- Raise electrical outlets/switches: All outlets, switches, and other operational devises were placed at a specific height to avoid bending or balance issues.
- Ensure future wheelchair use: We incorporated easy access ramps, mechanized lifts, 3-foot doorways, a zero threshold shower, and a wheelchair accessible vanity with motion sensored faucet for the purpose of future wheelchair use.
It was a pleasure to work with this client because not only did we learn a lot about Pompe Disease, but we were able to truly help someone be proative in their future accessibility needs. It's easy to prepare for something when you see the writing on the wall; it's much more difficult to prepare when you don't believe that accessibilty issues are in your future. Our hope is to educate people on the many levels of accessibility needs so that you can start thinking proactively like this client.
Home modifications will always depend on the patient's needs and the house they are living in. If you or a loved one need assistance in living with Pompe Disease or any other accessibility related situation, please contact Aging In Place Builders. It's our mission to make sure you stay in your home comfortably and safely for years to come.