Genetic, inherited conditions are typically thought of as being rare. Comorbidity with two genetic conditions, however, is all but unheard of.
According to the team of doctors in Jaipur, one such case has been established. The team has noted that this is possibly a first-of-its-kind case in which one person has been diagnosed with two rare disorders. No such case can be found in the available medical literature.
A baby boy, born at the JK Lone Hospital in Jaipur has been diagnosed with two genetic diseases, Pompe disease and Spinal Muscular Atrophy (SMA). Pompe disease is a rare inborn error of metabolism. The disease results from the deficiency of an enzyme called acid alpha glucosidase (GAA), which breaks down complex sugars in the body. This buildup occurs in organs and tissues, especially in muscles, causing dysfunction.
As a metabolic condition affecting multiple organs and bodily functions the symptoms are both diverse and devastating. These may include weak muscles, an enlarged liver, failure to gain weight and grow at the expected rate, trouble breathing, feeding problems and infections in the respiratory system.
SMA is a disorder affecting the nervous system. It is a progressive disease which worsens over time. SMA predominantly affects the muscle, leaving the individual with movement problems, as well as issues breathing and swallowing. The combination of these two diseases could leave the affected baby in a lifelong state of hospitalisation with a significantly reduced life expectancy, requiring constant medication to control the two conditions.
“We have started treatment for Pompe disease and are looking for improvement before starting treatment for SMA 1,” said Dr Priyanshu Mathur, adding that patients suffering from these disorders do not survive without treatment.
Dr Mathur said the drug for the treatment of Pompe disease costs around Rs 25-30 lakh per year, while that for SMA 1 costs around Rs 4 crore per year. In both cases, the drugs need to be administered for the entirety of the patient’s life.
While this is an all but unheard of comorbidity among rare genetic diseases, the diseases themselves are cumulatively not as rare as the name would suggest. An estimated one in twenty Indians suffer from illnesses that fall under the classification of “rare diseases”. Children account for fifty percent of such cases. Rare diseases affect around 350 million people worldwide. This figure includes roughly seventy million Indians.
Such an expense for medication drives many of these seventy million into poverty. For others no treatment yet exists for their conditions, as they are often neglected in terms of research due to the small number of individuals each disease affects.