Pompe disease

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What are some resources available for me to read about the psychological and social issues that are common when a family has a genetic condition?

There are many great resources out there for you to read about the psychological and social issues for families with a genetic disease. Here are a few.

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What is CRIM status?

What are some things that can help people with Pompe disease increase their ability to get around?

How will Pompe disease affect my daily life?

What are contractures and how do I prevent them?

What is assistive technology?

What is assisted technology and how does it help someone with Pompe disease?

Are there any benefits of exercise for people with Pompe disease?

What is CRIM status?

In Pompe disease (PD), a person has a change on both copies of their GAA gene. If both changes are severe, then their GAA genes are unable to make any normal acid maltase enzyme. A test of the skin (and possibly a blood test) can look at Cross Reactive Immunological Material (CRIM). If a person is CRIM positive, they make a little bit of acid maltase enzyme, whereas someone who is CRIM negative makes no acid maltase enzyme. This is important because when we replace the missing acid maltase enzyme with a man-made version called alglucosidase alfa or Lumizyme® in a person with no natural acid maltase enzyme, the body may recognize it as a foreign substance and develop antibodies to fight off the enzyme. When that happens, the body breaks down the enzyme before it can work to clear glycogen and makes the enzyme useless. However, there are now some medications that can be given to lower the immune response to Lumizyme and help it work better. Therefore, it is important to test babies with infantile Pompe disease to determine if they are CRIM positive (likely to respond well to treatment) or CRIM negative (likely to develop antibodies to treatment) before starting treatment. Everyone with late onset Pompe disease (LOPD) is CRIM positive because they have to have some natural enzyme to have developed symptoms later in life.

References
What are some things that can help people with Pompe disease increase their ability to get around?

Most people with Pompe disease have muscle weakness that leads to them having problems getting around. The muscles affected include those in the legs and hips that allow people to walk, stand up straight, and keep their balance. Some of the ways people can manage their weakness and improve mobility include:

  • Physical therapy to improve muscle strength and flexibility
  • Occupational therapy to learn new ways to move and adapt to the body
  • Using medical equipment like wheelchairs to move around
  • Surgery is sometimes needed to fix bone problems like scoliosis (curvature of the spine) or contractures (limitations in joint movements)
References
  • Pompe Info on http://www.pompe.com
  • Kishnani PS, Steiner RD, Bali D et al. Pompe disease diagnosis and management guideline. Genet Med 2006 8:267-88.
How will Pompe disease affect my daily life?

Since Pompe disease affects multiple systems of the body, changes in routine and lifestyle may be required. For example, more time will be needed for medical visits and support may be needed for physical tasks. However, this doesn't mean that someone living with Pompe disease cannot continue to do activities that he/she enjoys. Many activities can be modified to be less intensive. Individuals who work may need to discuss strategies with their employer to make their workplace easier to move around or to make hours more flexible. Schools may need to be involved to make similar changes for a student living with Pompe disease.

The more severe the muscle weakness is for someone with Pompe disease, the more the disease affects daily life. It can get harder to do physical activities such as walk, stand, or climb stairs when the muscles get weaker. An individual may need to get help or change their day-to-day routine to keep as much independence as possible. Although deciding to use a wheelchair can be difficult, it may help people to stay as active as they want to be.

References
What are contractures and how do I prevent them?

Contractures are the permanent shortening of a muscle or a joint due to lack of use. They can happen in many neuromuscular diseases that cause weakness. There are ways to prevent contractures from developing by daily stretching exercises and the use of splints or other orthopedic interventions. Ankle foot orthoses (AFO's) can be used on the ankles, and knee/hand/wrist splints prevent contractures of those joints. Standers and chair lifts can help people with weak muscles stand more, which helps prevent the loss of bone density (osteoporosis) and curvature of the spine (scoliosis).

What is assistive technology?

Assistive technologies are devices used to help someone with disabilities to be able to function in their daily life. In the bathroom, a shower chair, bathtub grab bar, or raised toilet seat may be helpful. Seat cushions can be helpful for sitting in a wheelchair, and a stand-up chair can help you get out of a chair. A hospital bed that moves up and down can help a person get in and out of bed independently. A ramp to the front door and wheelchair accessible doorways and rooms may be necessary. These modifications can allow you to live independently for longer or ease the burden on caregivers.

What is assisted technology and how does it help someone with Pompe disease?

Assistive technologies are devices used to help someone with disabilities to be able to function in their daily life. In the bathroom, a shower chair, bathtub grab bar, or raised toilet seat may be helpful. Seat cushions can be helpful for sitting in a wheelchair, and a stand-up chair can help you get out of a chair. A hospital bed that moves up and down can help a person get in and out of bed independently. A ramp to the front door and wheelchair accessible doorways and rooms may be necessary. These modifications can allow you to live independently for longer or ease the burden on caregivers.

Are there any benefits of exercise for people with Pompe disease?

While people with Pompe disease may be affected differently by the disease, it has been shown that a light training program with an aim to increase aerobic fitness, muscle strength, and core stability helps to improve fatigue and pain in adult patients with Pompe disease.

References
  • van den Berg, Linda E M et al. "Safety and efficacy of exercise training in adults with Pompe disease: evalution of endurance, muscle strength and core stability before and after a 12 week training program" Orphanet journal of rare diseases vol. 10 87. 19 Jul. 2015, doi:10.1186/s13023-015-0303-0 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4506616/

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