10 Things We Want You to Know—From Parents of Children with Pompe Disease

1. It’s okay to ask questions

We want you to. We want you to try to understand and we want to raise awareness. It’s not rude to seek correct information or ask about our child’s situation. Feel free to ask questions.

2. It’s not going anywhere

There is no cure. They don’t outgrow it. It’s progressive. This means that as time goes on, it worsens in severity. Once they are on treatment, it’s forever as long as there is no cure. This treatment slows progression but does not heal the disease itself.

3. It’s genetic

It’s passed along down the family tree. (Almost always.) Whoever passes it along cannot know they are passing it along unless they are specifically tested. There is a lot of guilt associated with this realization but we, as parents, blame no one. We understand the pattern it follows and seeking answers up the line does not mean we are finding fault, only finding answers and preparing for the future of our families.

4. It’s a spectrum disease

Not everyone presents the same. Some children are more severely affected and some children show almost no visible symptoms. There is no clear way to determine how this will look for an individual and each part of that spectrum has its own challenges.

5. We don’t always have all the answers

It’s rare so it’s not studied in the same way other diseases are. And so much of this is a case by case, day by day basis so we can’t always have a solid answer. This is hard for us. Not to mention the complexity of a genetic disease like this one is incredibly hard to understand on a deeper level and so we couldn’t possibly know about this disease in the same aspect as a professional. This subject is very complicated to learn. We just don’t always have an answer.

6. They are just like you in the majority of ways

Speech, mobility, feeding and breathing are often affected with this disease but these things do not mean that they are all that different from your child. These things do not automatically qualify them for issues with cognition, intelligence, learning, etc. These are just obstacles that are unique to them but aside from some consideration for them, they want and deserve to be treated just like every other child. They are not limited in every aspect of their being.

7. Their fully biological siblings have risks

Children born to the same mother and father of the affected child carry risks. Their future families have some risks and considerations. This also means that any future full siblings born after this affected child have the same chance of being affected by this disease. This can make future children a very sore subject. Everyone feels differently about future children after learning about genetic mutations and there is no right or wrong way to proceed. But you should refrain from suggesting future siblings in case this is something that the parents feel is not in the cards for them. “WHEN ARE YOU HAVING ANOTHER?” is NOT a polite thing to ask any person, let alone a person who could potentially have another sick child.

8. It’s not always obvious

“They look completely normal!” is not the best choice phrase. Some of these children struggle in subtle ways but they are still struggles for them. Instead you should ask the child or parent what things you should be aware of with their condition. Maybe they need extra breaks at playtime. Maybe they are not able to climb, run, perform to the same capacity as their peers. Even these subtle things should be considered and supported, never dismissed.

9. There are some special considerations

Sometimes we have to sit some things out. We have to take respiratory illness very seriously if their breathing is affected. We often have to take food choices into consideration and make limitations that are not ideal. Medical assistive devices are often considered for day to day activities as well. Please be understanding that some decisions are not always easy for us as a family and that sometimes this requires us to ask you to consider us as well.

10. It doesn’t define them.

It is undoubtedly a part of their life but they are so much more than their disease. They are funny, brilliant, artistic, and otherwise just like many other children. We want so badly for them to live a full life of pushing the bar and succeeding in their own ways. They may move differently, speak differently, eat differently, or look a little differently but their disease is only a part of the incredible people they are and we hope to celebrate them as a whole person. With some support, patience, and understanding of this part of them, you can play a part in ensuring that a full life is possible for these children.

As parents we feel we have been thrown a curve ball but we are up to bat, regardless. We cannot single handedly improve their life or outcomes and rely on the understanding of others around us. We hope that you will take part in ensuring their best chances of a full life and helping to change the future of this disease.

One response to “10 Things We Want You to Know—From Parents of Children with Pompe Disease”

  1. Nicely said! ❤️

    Liked by 1 person

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