+ What is Pompe disease?
Pompe disease is a genetic condition. It is a neuromuscular disorder which affects primarily the heart and skeletal muscles. It affects individuals at all ages right from birth to as late as the sixth decade of life. It is caused by the deficiency of an enzyme which is called acid alpha-glucosidase. This enzyme helps breakdown glycogen. When this enzyme is deficient, glycogen builds up in the various muscle tissues of the body including cardiac and skeletal muscle.
+ What is the prognosis of a young child with Pompe?
›Pompe disease is a continuum of disease
spectrum. At one extreme is the infantile presentation where babies are
extremely hypotonic, have significant cardiomyopathy and typically die within
the first year of life without any intervening therapy. The cause of death is
usually cardiorespiratory failure. It is a lethal disease.
+ Can children live to be an adult with Pompe disease?
It is important to recognize that it is a genetic condition, so all of patients who have the genetic defect have Pompe disease right from birth. For the infantile form of the disease, they have what we call 2 deleterious mutations, which results in minimal to no residual enzyme activity of the acid alpha-glucosidase. As such, they present very early and die within the first year of life. In contrast, adults have genetic changes, which are not as severe as in the infantile form and thus they have some residual enzyme activity . As such, they can present later in life and thus live to be older.
+ What does Juan have?
Juan has what we call infantile Pompe disease, where the residual enzyme activity is close to zero. Juan presented in the first few months of life with respiratory involvement. He also had a thickening of the heart muscles and also progressive skeletal muscle weakness. Juan became progressively weaker. He was unable to lift his head, unable to roll, unable to sit. Without therapy, Juan would actually never learn to walk on his own and would have typically succumbed to Pompe disease by the time he reached his first birthday.
+ What is the treatment for Juans type of Pompe?
Juan has infantile Pompe disease and as mentioned, in this form of the disease, there is minimal to no residual enzyme activity which is acid alpha-glucosidase. That is the enzyme missing in Pompe disease. For Juan to live, he required replacement of the missing enzyme in his body, which is acid alpha-glucosidase. It is similar to providing insulin to someone who has diabetes. He needs to have this enzyme given to him throughout his life course to be able to live.
+ Is there any kind of other treatment at all?
This is the first life-saving treatment that is FDA approved for Pompe disease. Prior to 2006, there was no treatment for Pompe disease other than symptomatic care. What one could do was provide palliative care such as medications, to help the heart failure, helping the child breathe with ventilator support, providing nutrition via nasogastric or G-tube feeds and comforting the baby. This however, would never change the outcome of death.
+ Does everybody respond to this treatment?
In essence, the therapy is to provide the missing enzyme. However, we have to recognize that if therapy is started late, if the baby is very involved and has suffered what we call, irreversible muscle damage, then the therapy has limited benefit except the heart muscle, which we know is extremely responsive no matter what stage of the disease we identify the children.
For skeletal muscle there is a point of no return in the sense that if there is fibrosis or scar tissue, or end-stage damage to the skeletal muscle, then giving the enzyme does not help the situation. This comes to the point of needing early diagnosis and the role of newborn screening for Pompe disease especially for the infantile form of the disease.
+ Is Juan on treatment?
Juan is on treatment and continues on Myozyme intravenously which is close to a 4-hour infusion once a week, via a porto-cath.
He has not required the need for any kind of immune tolerance induction therapies because he is CRIM positive and also because he has tolerized to the Myozyme.
+ What are the costs of Treatment?
Due to the complex nature of the drug, Myozyme is exceptionally expensive, costing on average R2.5million per year including administration and infusion costs.
Myozyme is weight-based and therefore differs from patients to patient, as well as from month to month as patient weight increases.
+ What other requirements do Pompe patients have?
therapy's are vital to Pompe patients. Such therapies are Physiotherapy,
Occupational Therapy and Speech Therapy.
+ What other considerations are there?
Pompe patients have a small list of safe medications that are available to them as many other unsafe medications cause damage to their organs containing skeletal tissue.
All Respiratory viruses are extremely dangerous and often life-threatening if contracted by Pompe patients, as these viruses target already compromised respiratory/cardiac tissue having dire consequences.
+ What are the symptoms in Infantile onset?
+ What are the symptoms in adult onset?
+ How will Pedalling 4 Pompe make a difference?
All funds raised will be used for the following purposes:
1) Assist suspected patients with initial
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