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Blog #6 – Pompe Disease

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. 

BEFORE YOU READ ANYMORE, DON’T MISS THIS OPPORTUNITY!

As parents of a Warrior (a kid with a rare condition like this) we have spent countless hours creating resources that we have used and will help you and the warrior in your life navigate this difficulty, scary, and sometimes lonely journey.  We have waived ALL fees, so it is 100% free for you.  We just need your email so we can show you have to best access the resources.

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 you can be a part of. 

With so many confusing things out there on the internet, we want you to also remember that Take Part supports children like yours on a day-to-day basis!

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.

Medical Information about Pompe Disease: 

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.  

Enjoy the community, and please let us know how we can help.  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.

Please utilize these groups below if you have not already had access to a support system among your journey of understanding PFIC: 

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

 

DON’T MISS OUT!!! TAKE ADVANTAGE OF THIS OPPORTUNITY!

As parents of a Warrior (a kid with a rare condition like this) we have spent countless hours creating resources that we have used and will help you and the warrior in your life navigate this difficulty, scary, and sometimes lonely journey.  We have waived ALL fees, so it is 100% free for you.  We just need your email so we can show you have to best access the resources.