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Blog #6 – Pompe Disease

Pompe Disease

If this is our first blog you are reading, we like to get some medical professionals to do some research so we can understand and help you (as a parent or a friend of a family) to better understand what it is and more importantly, what communities can you be a part of.  

Enjoy the community, let us know how we can help.  If you have a child with rare conditions, click here to create a warrior page.  

If you just know someone we would love for you to follow what we are doing, engage in some of the crazy events that we do, and click here if you want to donate or help raise some awareness for these millions of families fighting for possible during this tiring fight. 

Feel free to jump down to the medical description of this condition below but also, get in community to learn more.  Please utilise the groups below if you have not already had access to a support system amongst your journey of understanding Pompe Disease: 

Websites you can use for support: 

https://pompeandyou.com/about-pompe?gclid=Cj0KCQiA64GRBhCZARIsAHOLriIILSRVcFfmYcLc3Vuyesn2jp06dwSEW2Cf5YM83hCvbLVXkHCnWiwaAmjmEALw_wcB

https://worldpompe.org/

https://www.agsdus.org/

https://www.metabolicsupportuk.org/

https://www.unitedpompe.com/

https://amda-pompe.org/

Facebook groups you can use for support:

https://www.facebook.com/groups/128829060576

https://www.facebook.com/groups/PompeStrong

https://www.facebook.com/groups/1668559669887831

https://www.facebook.com/Pompe-Disease-News-181313906830940

 

Medical Information about Krabbe Disease: 

With so many confusing things out on the internet, we also want you to also remember that Take Part supports children like yours on a day to day basis! If you want people to know the TRUTH of what your child is going through, go ahead and create a warrior profile through our website. This can be used to raise awareness on social media, or simply just shared between friends and family for updates. 

As a team, none of us ARE doctors; however we work with some amazing medical professionals that have given us more insight below. Please continue reading and use the information to navigate your own personal journey or share with anyone you may know may benefit. 

Pompe disease is a rare inherited disorder with the absence or deficiency of an enzyme known as acid alpha-glucosidase (GAA) in children caused by mutation in the GAA gene. As a result, the body cannot make the protein which breaks down the complex carbohydrate called glycogen into simple ones like glucose for energy. The excessive accumulation of glycogen in the body mostly in the skeletal and heart muscles causing deformities and muscle weakness. The severity of the disease depends on the degree of deficiency of GAA. Depending upon the severity and the age at which it occurs, there are two types of Pompe disease: the early onset and the late onset which are given below along their symptoms. 

Early onset Pompe disease

The early onset is also known as infantile Pompe disease and further categorized as classic in which the symptoms appear soon after birth and non-classic infantile Pompe disease in which the symptoms occur later but normally within first years of life 2

Symptoms might include: 

  • Weak muscles with poor tone 
  • Heart defects
  • Hepatomegaly (enlarged liver)
  • Hearing and respiratory problems
  • Breathing and feeding difficulties 

Late onset Pompe disease  

Late onset also known as juvenile Pompe disease results due to the partial deficiency of GAA and the symptoms appear late in childhood or during adulthood. 

The symptoms might include:

  • Muscles weakness including muscles of trunk, legs, and respiratory muscles
  • Mobility abnormalities 
  • Eating and breathing difficulties
  • Severe breathing problems leading to respiratory failure and ultimately death

Diagnosis

The diagnosis is usually based on clinical evaluation, biochemical tests, and the family history.

  • Blood tests to measure the GAA enzyme activity in leukocytes and screening of the GAA gene mutation 
  • Electrocardiogram, x-rays to find heart conditions 
  •  Electromyography and MRI of muscles
  • Lung tests for breathing problems

Treatment and Management 

Patients with Pompe disease are usually offered symptomatic care. The enzyme replacement therapy has also been approved by clinical trials which involves administration of alglucosidase alfa or the Myozyme drug intravenously and it acts like the natural acid alpha-glucosidase enzyme and is usually given for infantile Pompe disease and Lumizyme© for all age groups. Another drug called Nexvia Zyme (avalglucosidare alfa-ngpt) has been used for children at age 1 or older with late onset disease. 

Prognosis 

The prognosis usually depends on the age of onset. In infantile onset, without treatment, the children usually die before age 1 mostly because of a thickened and enlarged heart causing cardiorespiratory failure. The progression of disease would be slow in later onset of disease. The prognosis is also dependent upon the involvement of respiratory muscles and severity of muscle weakness.   

Who is at most risk for Pompe Disease?

As it is an autosomal recessive disorder, the risk for a child with both carrier parents to get Pompe disease is 25% and the risk of the child to be carrier of Pompe disease is 50%. The risks for both males and females are the same.