What it means to have cystic fibrosis

An inherited autosomal recessive disorder, CF has few treatment options

What it means to have cystic fibrosis

Gurvinder Kaur and Devender Singh gave birth to a normal 3.5 kg baby boy, Angad Singh, on 2 Nov 2011 in Raipur. While everything was normal at birth, Angad Singh did not pass stools in the 24-48-hour window as expected. Angad’s abdomen was soon distended and he started vomiting green colored fluids. Based on these symptoms, Angad was thought to have Hirschsprung’s disease and he was referred to a paediatric surgeon who performed a colostomy and biopsy of the intestine. After the surgery, Angad now had a problem of loose stools and within 2 months of age, he had lost considerable weight and was at 1.8 kgs. He was then presented to Dr K. N. Shah, a senior consulting paediatrician at Lilavati Hospital and Research Centre, Mumbai.
At Lilavati, Angad underwent another biopsy, which turned out to be normal, and Hirschsprung’s disease was ruled out. Based on his history and the normal biopsy results, Dr Shah suspected that the child had meconium ileus, which is a bowel obstruction due to a sticky meconium in the intestine. The symptoms for meconium ileus are similar to that of Hirschsprung’s disease – distended abdomen, green vomit and no stools. Meconium ileus is most often associated with cystic fibrosis, and Gurvinder Kaur was counselled to have Angad undergo genetic testing to confirm the case.

Cystic fibrosis is an inherited autosomal recessive disorder caused due to a homozygous mutation in the gene for the cystic fibrosis transmembrane conductance regulator (CFTR). The most common gene mutation is the deletion mutation, ΔF508, which results in a non-functional CFTR protein. CFTR is a chloride ion channel required for creating sweat, digestive juices and mucous. Aberrant CFTR results in an ion misbalance which causes the formation of a thick and viscous mucous. Such mucous can affect the functioning of the pancreas and liver, causing digestive symptoms, or allow bacteria to hide from the immune system in the lungs, causing repeated respiratory infections. People with cystic fibrosis also have salty skin due to high levels of salt in their sweat. Mucous buildup results in blocking of passages of affected organs. In the pancreas, it results in the accumulation of digestive enzymes and prevents proper digestion of food, causing diarrhea and consequently weight loss, as was observed for Angad. Pancreatic enzyme replacement therapy has been shown to be helpful in improving absorption of nutrients. Genetic testing confirmed that Angad was homozygous for ΔF508. Since Angad’s condition had to do with digestive symptoms, he was started on pancreatic enzyme replacement therapy. The diarrhea stopped, and Angad started gaining weight within 1 month of starting therapy.

At 3 years of age, Angad started showing symptoms of lung dysfunction with a sticky sputum that was difficult to come out. This was part 2 of cystic fibrosis that was now affecting the lungs. Thick mucus in the lungs results in repeated respiratory infections and repeated pneumonia with foul smelling sputum and may even lead to lung collapse. For lung involvement, treatment revolves around administration of antibiotics — oral, intravenous as well as via inhalation. Typically, the patient will recover temporarily, but will again succumb to new infections. The patient starts losing weight because of poor appetite due to infections. Currently, there is no cure for cystic fibrosis. When the condition worsens, the only option is a lung transplantation.

Gurvinder Kaur and Devender Singh also underwent the same genetic testing and were found to be heterozygous for the ΔF508 and hence carriers of cystic fibrosis. When they decided to conceive again, extra vigilance was demanded, and it was mandatory that the foetus also underwent genetic testing for the CFTR gene mutation. This test was carried out after 20 weeks of pregnancy and as fortune would have it, the second child was normal. If the foetus would have been carrying a homozygous mutation, it would have to be aborted. Even the knowledge of a heterozygous mutation would be an important aspect for the child, as the child would be a carrier. Gurvinder Kaur and Devender Singh were however much relieved with the results and proceeded to have a healthy baby girl.

While Angad is doing much better now, he is a constant visitor at the AIIMS, Raipur. He has just come home from another respiratory infection where he was diagnosed with a double infection of Staphylococcus and Klebsiella. Antibiotics are his friends and enemies at the same time. His doctors have learnt the hard way that he is allergic to both vancomycin as well as lizonide. Until new affordable treatments hit the market, his condition is likely to continue for the rest of his life. Meanwhile, there are some new drugs in the market. Orkambi is a lumacaftor/ivacaftor combination drug which has recently been approved in Europe. However, the drug is extremely expensive and practically unaffordable for patients in India.

Interestingly, Gurvinder Kaur is now so involved in everything to do with cystic fibrosis that she is researching on her own and trying to stay abreast of the current treatment options for cystic fibrosis in the hope of being able to tackle her son’s disorder. She has found a Facebook page for other cystic fibrosis patients in Delhi and has recently been added to a WhatsApp group with about 115 patients from all over India. She believes that more such support groups are needed in India, especially for families who may find a genetic disorder such as cystic fibrosis a drain on their financial situation. “The government should look after such patients, and genetic disorders should be covered by insurance companies,” advocates Gurvinder Kaur.

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