Making an informed choice!

Duchenne muscular dystrophy (DMD) is a genetic disorder characterized by progressive muscle degeneration and weakness. It is caused by an absence of dystrophin, a protein that helps keep muscle cells intact. The symptoms of muscle weakness usually begin around the age of four in boys and worsens quickly.

Typically muscle loss occurs first in the upper legs and pelvis followed by those of the upper arms. This can result in trouble standing up. Most are unable to walk by the age of 12. Some may have intellectual disability. Females with a single copy of the defective gene may show mild symptoms.

DMD is inherited in an X-linked pattern, because the gene that can carry a DMD-causing mutation is on the X chromosome. Every boy inherits an X chromosome from his mother and a Y chromosome from his father, which is what makes him male. Girls get two X chromosomes, one from each parent.

Each son born to a woman with a dystrophin mutation on one of her two X chromosomes has a 50 percent chance of inheriting the flawed gene and having DMD. Males therefore only have one copy of the dystrophin gene, and if it is not working properly (mutated) they cannot produce any normal dystrophin, and suffer from DMD.

Each of her daughters has a 50 percent chance of inheriting the mutation and being a carrier. Carriers may not have any disease symptoms but can have a child with the mutation or the disease.

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“Wouldn’t the big temple auditorium suffice?” asked Sandeep’s mother, as she sipped the hot filter coffee.
“Oh no, I don’t think so”, said Sudha’s father, in his booming voice. “It is my only daughter’s wedding, and we intend to invite at least 700 guests. The temple auditorium can only house around 300. And you will have your own list of invitees too! I think we must conduct the wedding grandly at a resort!”

“How about a destination wedding?” Sudha’s mother chimed in.

Sandeep was only half-listening to the discussion about his wedding. He was smiling at Sudha, who was standing a little away and smiled back at him.

Sandeep’s father had to clear his throat thrice, to get Sandeep’s attention, much to the amusement of everyone else. “What do you say Sandeep?”

“Oh… what?” asked a flustered Sandeep, while Sudha giggled.

“He’s already devoting his time to his would-be wife”, teased his mother. “How can we expect any attention from our son after the wedding?”

“We were asking if you wanted to have a destination wedding”, repeated his father.

“I feel that is unnecessary, Dad, but I would like to know if that is what Sudha prefers”, said Sandeep, turning to her.

“I feel the same too”, said Sudha, agreeing with Sandeep. She turned to her father. “Dad, I know you would love to have a grand celebration, but we have to think of the guests we’re inviting too. We may not be able to sponsor every guest, and it may be inconvenient or too expensive for those left out. I think it’s not the grandeur of the wedding itself that counts, but the blessings of all our friends and family…. And I wouldn’t like to miss out anyone!”

Sandeep felt extremely happy listening to Sudha. He thought himself extremely lucky to have found such an intelligent and understanding partner like her.

“Sudha is right”, said Sandeep’s father.

“Alright then”, said Sudha’s father resignedly. “But we will definitely have a bigger variety of dishes than in other weddings!”

As Sandeep and his family got up to leave, they invited Sudha’s family home, as was the custom.

When Sandeep drove back home with his parents, he found his younger brother, Sagar, eagerly waiting for him at the doorstep, seated in his wheelchair. Their servant, Ramu, was right behind him, giving him company. “Sagar Babu wouldn’t let me do my chores in peace”, he complained. “Don’t blame me if the work is not done on time today”, he muttered as he went back inside.

“What’s the update?” asked Sagar impatiently. “Tell me quickly!”

Sandeep laughed. He loved his younger brother dearly and he was equally eager to share his happiness with Sagar. “Everything is fixed! Sudha and I will be married on the 15th of next month.”

“Hurray!” cried Sagar. “If only I could run and jump”, he said wistfully. “I am so happy for you, Anna!”
Sandeep had been a normal child, but Sagar had a disorder since birth, which was evident by the time he turned four. His muscles began weakening, especially those of his calves and thighs.

By the time he was twelve, he couldn’t walk at all, and was confined to a wheel chair since then. Slowly, his upper arms began weakening too, though it was happening slowly. The doctors called the disorder Duchenne’s Muscular Dystrophy, caused by a defective gene that could not make Dystrophin, a key protein that helped in maintaining muscle strength and integrity. It was hereditary, the doctors told his parents, and asked them to thank God that Sagar was not intellectually challenged too.

Sandeep, however, was strong, healthy and athletic, and often tried to make up for Sagar’s physical disability by trying twice as hard to include Sagar in everything he did. As Sagar lamented his fate, Sandeep gave him a tight hug. “I’ll make sure you get to do all the important stuff for the wedding”, he promised. “You’ll find you don’t need to run and jump for that!”

Wedding preparations began in both houses with gusto, and there seemed to be hardly any time to get everything done! Sudha’s parents found it difficult to visit Sandeep’s home amidst all the fuss, and finally made it just a fortnight before the wedding.

Sudha’s father was ecstatic. “I know we’ve been here before but we couldn’t meet everyone and see the whole house then as we were in a hurry”, he said, while Sandeep’s father showed him around. “You’ve got quite a palace here, I must say!”

Sandeep’s father modestly murmured thanks and continued to introduce all their family members. “And this is my elder brother and his wife... and this is ...”

“What about your younger son? You said he is ill, but where is he?” asked Sudha’s mother. “Here I am, aunty!” Sagar came forward eagerly, steering his wheelchair.

“Is his condition the result of a childhood accident?” asked Sudha’s father, frowning.

“No. He was born with Muscular dystrophy”, said Sandeep’s mother. “It’s a hereditary disease.”

“Hereditary?” Sudha’s father’s demeanour changed. “You never told us this before! What if Sandeep gets affected later too? Or worse, what if it passes on to his children? What would be the fate of my daughter?”
“There is nothing like that, please believe us”, said Sandeep’s father. “Sandeep is completely normal and it cannot pass on—”

“You have cheated us!” said Sudha’s father angrily. “I call off this wedding here and now!”

Sandeep and his family were flabbergasted. They tried their best to reason with Sudha’s strong-willed father, but he wouldn’t listen. He stormed out with his retinue.

Sagar was in tears. “It’s all because of me”, he cried.

“It’s not your fault at all”, soothed Sandeep. “And I am not going to marry someone who can’t accept my younger brother.”

Sandeep’s parents tried their best to put things right but in vain. Sandeep lost all hope of things ever coming back to normalcy, and tried to be cheerful and consoled his parents too. “It probably wasn’t meant to happen”, he said, smiling, though his heart was breaking inside.

Then one day, out of the blue, he received a call from Sudha. “Please don’t lose hope”, she said. “But would you mind coming with Uncle and Aunty to a genetic counsellor? I will be there too, with my parents. I hope they will understand then.”

And that was where they met again. Sudha’s parents looked angry and unwilling, but sat down for the session nevertheless. The counsellor was shown Sagar’s medical reports, and she said to Sudha’s parents, “Duchenne’s Muscular Dystrophy is caused by a defect in the gene that codes for the Dystrophin protein. And this gene is found on the X chromosome.

Please remember that a woman has two X chromosomes, while a man has an X and a Y chromosome. The good news is that, this is an X-linked recessive disorder. This means, a woman is affected by the disease only when she carries the defective gene on both her X chromosomes, but a man is affected by it when the only X chromosome he has, carries the defective gene. So when a man inherits the defective Dystrophin gene, it is clearly seen on the outside, as in Sagar’s case. However, Sandeep has got a healthy X chromosome, which is why he is a healthy adult today.

There is no danger of his passing on the disorder to his children as he does not have a defective gene, and you may confidently go ahead with the wedding.”

Sudha’s parents sheepishly apologized to Sandeep’s parents outside the counsellor’s room. “We were quick to judge. We should have thought over it more patiently. It’s Sudha who convinced us for this genetic counselling session”, said Sudha’s father.

“Well, we are lucky to have got Sudha as our daughter-in-law”, said Sandeep’s parents delightedly, as Sandeep and Sudha smiled with relief.