Tips and Tricks from the Pompe Community
April 15, 2017 is the Fourth Annual International Pompe Day. The International Pompe Association (IPA), with the support of the global Pompe community, launched International Pompe Day in 2014. The goal of International Pompe Day is to raise global awareness of Pompe disease, a rare neuromuscular condition that affects approximately 1 in 40,000 people around the world.
When International Pompe Day was launched, the Pompe Community selected “Together We Are Strong” as its motto. We believe that as a united community of patients, family members, friends, scientists, doctors, and industry partners we have accomplished, and can continue to accomplish, great things. Together we have seen a treatment for Pompe become a reality for most people around the world, and working together we see new and better treatments on the horizon in the near future.
This year, as a global community we turn our attention and advocacy power to the importance of “Living Healthy with Pompe Disease”. Pompe disease is just one part of the Pompe individual’s life. To have a healthy lifestyle, those without Pompe have to eat healthy, sleep well, and stay active. The same is true for those with Pompe. And it can be a struggle to find the right balance, and the right approach to achieve a healthy lifestyle for all of us.
For this year’s International Pompe Day, the IPA would like to raise awareness of the benefits of “Living Healthy with Pompe” for everyone diagnosed with Pompe disesae. We understand the challenges that people can face because of the effects of Pompe, and want to provide support and encouragement to everyone. When trying to incorporate new habits and lifestyle goals it can be overwhelming at the beginning. You don’t know where to start, and it is easy to get discouraged. The ways to “Live Healthy” are as diverse as the Pompe Community, and it is our goal on International Pompe Day to support our Community as they strive to define what “Living Healthy with Pompe” means for each of them.
Published Guidelines for Pompe Patients
There are multiple resources available to the Pompe community, their families and physicians when it comes to managing the signs and symptoms of Pompe disease. These resources include recommendations on the specialists that should be consulted, the recommended schedule of tests that should be conducted to monitor the progression of Pompe symptoms, and recommendations related to treatment. A non-exhaustive list of these resources are:
- International Pompe Association’s Pompe Connections (http://worldpompe.org/index.php/publications/category/2-pompeconnections)
- ACMG’s Pompe disease diagnosis and management guideline (https://www.acmg.net/staticcontent/staticpages/pompe_disease.pdf)
- AANEM Consensus Treatment Recommendations for Late-Onset Pompe Disease (https://www.aanem.org/getmedia/f7948141-1d35-4edd-8baf-867c193ad790/Pompe-Position-Statement.pdf)
- Pompe.com (https://www.pompe.com/en/patients/managing-pompe.aspx)
Several of these Guidelines also make recommendations related to “General Health.”
Preventing/Avoiding Contagious Illness
The guidelines recommend that all vaccines should be kept up to date. In particular, reference is made to the flu vaccine, and the pneumonia vaccine because of the higher risk for complications in Pompe patients due to impaired respiratory function. It is also recommended that coughs, colds, or fevers be treated aggressively because of the increased risk of complications. While people diagnosed with Pompe disease are equally at risk for contracting colds, flus, etc as the general public, the more severe complications that can arise make it important for those diagnosed with Pompe disease and their families to take added precautions to stay as healthy as possible. The vaccines mentioned above are one way to try to stay healthy. Other ways to stay healthy include avoiding contact with people you know are sick, and being strict about hand-washing to avoid infections during the cold/flu season.
In relation to diet, the published guidelines concur that maintaining “good nutrition” is important. But what does that mean exactly? Some experts promote a high protein/low carbohydrate diet, while others encourage patients to focus on a balanced diet. All concur, however, that proper nutrition is important for those diagnosed with Pompe to stay as healthy as possible. As with many things, this is true for the general population as well. Therefore, as with any diet, it is important to talk with your medical professionals about any specific diets that you want to try or that you want your child to try and get their feedback. It may be necessary to do regular bloodwork to ensure that you are not becoming deficient in any vitamins or minerals. Something as simple as taking Vitamin D supplements if your Vitamin D levels are low may help with fatigue. This is why it is important to work with a General Practitioner or Pediatrician on general medical issues that arise. Remember, while Pompe disease is likely the most serious condition that those diagnosed with Pompe will face, they are still susceptible to all of the common (and uncommon) issues that affect the general public as well.
The published guidelines all also recommend that those with Pompe work with a physical therapist familiar with Pompe to come up with an exercise routine that is appropriate for them. For some that may mean walking for a recommended length/distance, for others it may mean strength/resistance training, and for others it may mean passive stretching and passive movement assisted by a physical therapist. And remember, it is okay to get creative! What works for one person with Pompe, will not work for everyone. Therefore, it is important for those in the Pompe community to not compare themselves to others. Instead, everyone should work with a physical therapist to find what works best for them.
As was mentioned above, those diagnosed with Pompe are still susceptible to all of the common (and uncommon) issues that affect the general public as well. It is important that those with Pompe (or parents of children with Pompe) and their physicians do not assume that all new symptoms are related to the Pompe diagnosis. Therefore, in addition to the recommended tests and assessments to monitor possible Pompe progression, it is important for everyone to have an annual physical as well. Further, if new symptoms arise that persist, it is important to not assume that they are automatically a result of Pompe. Instead, talk to your doctor (or your child’s pediatrician) to rule out other causes. The treatment for Pompe disease (enzyme replacement therapy for now, possibly gene therapy in the future) is not a miracle: it isn’t a fountain of youth, and it doesn’t make those with Pompe immune to everything else–as much as we might wish that it was and could!
A diagnosis of Pompe disease affects people differently, and how the diagnosis affects you and those in your family can change over time. It is normal to have periods of depression or sadness related to the diagnosis. This is also normal for parents of those with Pompe.
To achieve a balanced and healthy lifestyle, however, it is important to ask for help if you or your child need it. Talk to your doctor, your family, friends, or reach out to your national patient organization or the IPA if you need help. “Together We Are Strong,” and that is especially true when someone in the community needs support.
Many diagnosed with Pompe disease find that assistive devices help them to stay active, and safe. There are a variety of items available to help with everything from mobility (ie walkers, adapted strollers, wheelchairs, scooters, lifts, orthotic devices, etc) to respiratory support (i.e. Bi-Pap, volume ventilator, cough assist machines, nebulizers, etc), and many other items to help those with Pompe live life to its fullest. The IPA recommends talking to your/your child’s physician or physical therapist for suggestions and recommendations.
In the IPA’s new Together We Are Healthy: Tips and Tricks from the Pompe Community section we invite those in the Pompe community to share what works for them. How do YOU Live Healthy with Pompe? You can send in a video, or a short summary of how you/your child stay active, what you do for physical therapy, assistive devices you use, and anything else that you think contributes to your “Living Healthy with Pompe”.
The purpose of this new resource is not to say what everyone should do. Healthy Living with Pompe isn’t going to look the same for everyone – our community is too diverse and unique for that to be the case. Instead, the purpose of this resource is to offer support and encouragement for each other by showing the many ways Pompe patients can take steps to become healthier.
Remember, the individuals in the Pompe community are unique. We have all traveled our own path to get to where we are today. Some of us were diagnosed as babies, some as adults, and some as children. There is much that unites us, and we can learn from each other and support each other, but we should never judge each other. What works for one, will not work for all. BUT, as we have shown time and time again, “Together We Are Strong,” and it is the IPA’s hope that this strength will help to lead us to a point where we can confidently also say “Together We Are Healthy!”