FM JANUARY 2019 - digital edition

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
ANTIBIOTICS ARE HIS FRIENDS
AND ENEMIES AT THE SAME
TIME. UNTIL NEW AFFORDABLE
TREATMENTS HIT THE
MARKET, HIS CONDITION IS
LIKELY TO CONTINUE FOR THE
REST OF HIS LIFE
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.
DR SHIVANEE SHAH
42 / FUTURE MEDICINE / JANUARY 2019