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Differential Diagnosis

Updated: Jun 17, 2020

The heat of that warm August night clothed Jane as she labored silently. Beads of sweat covered her forehead. She was not sure whether this pain was real labour and she dared not ask. It was already burden enough to be pregnant at 18 while still living in your parents house. As dawn approached, she began to wretch uncontrollably drawing undesired attention to herself.

“Jane. Why do you look like that? Are you in pain?” Her mum asked.

“Yes.” She gasped.

Her mum discerned that a delivery was imminent. By the time she got to the hospital, it took a few minutes and he was born — Barry.

Her pregnancy had been a scary period full of uncertainty and doubt but once a seed has been sown it has no choice but to grow. And so her pregnancy grew. It wasn’t ideal — being a teenage mother — but nothing in life is and so she took it all in stride — a day at a time. Lucky for her, she had just been accepted to the University for a Bachelor’s degree in Food and Nutrition. Unlucky for her, she could not go with the baby and had to leave him behind with her mom when he was barely a week old.

Her mother took full responsibility for him while pregnant herself — much to the chagrin of her dad. He had five mouths to feed, a sixth on the way and now a grandchild. Because of the resultant financial strain on them they had nothing to spare for her in the way of pocket money. Her partner at that time was jobless and could not contribute much. His presence was like that of a magician. Now you see him, now you dont. She scrimped and scraped on crumbs, handouts and good will. On a good day she got one meal; on a bad day — nothing.

A few days before she left home to report to school she tried to breastfeed Barry. Maybe to imprint on him or create a lasting memory so that he would not forget her — but he kept choking on her milk. Her mom asked her to stop; probably thinking it was her inexperience that was causing this. His difficulty in feeding however persisted. So when he had delayed milestones it was attributed to this.

Her mom noticed he was perennially weak, drowsy or asleep. When he cried, no sound came from him. He couldn’t hold up his neck or sit when it was time to do so. When she gave birth to her daughter six months later one would have thought she had accelerated growth. She by passed Barry in everything while he remained static. It became difficult to ignore that something was clearly wrong. Still aside from the basic healthcare they accorded him they could not afford specialised care and because he was grossly underweight the assumption was he would catch up if they could get him to eat.

When Jane came home for the holidays, she became an object of ridicule. When she walked about with her son, the street felt full of eyes watching her.

“Such irony that two university students (Barry’s dad was a graduate) can produce such a child.”

“That child of hers is abnormal,” they would whisper, “she must have tried to procure an abortion that’s why he cant develop normally.”

Living in a closed community had its demerits because everyone knew everyone’s business. Her time at home was spent caring for her baby and being used as target practice for idle talk and verbal stones. It hurt.

Eventually, she sought for help. He was now two years old chronologically but barely three months mentally. It’s like he was frozen in time. She and her mom visited a renowned paediatrician in the town and begged him to take a look at Barry pro bono. And he did exactly that. He looked at him and said, “Classical Downs syndrome — nothing you can do.” The consultation was as brief as the life of a fly. Just like that Barry was labelled and they left none the wiser. ‘What was Downs syndrome anyway?’ Because it was a favour they had asked for, they didn’t prode much.

That was the first time she had heard of such a syndrome and Google was a preserve of the elite. So that was that. He then developed a second problem. Constipation. Because of his poor feeding habits, they mashed his food. He could barely take in solids so his food was very light — almost a liquid diet. Despite this, he had constant constipation and soon after he developed a hernia. Misfortune loves travel companions. He landed in hospital.

Throughout his time in the ward, he was referred to as the constipated kid with Downs Syndrome. He underwent surgery for the hernia and no one gave him a second look. No one asked, so no one answered. He was discharged home soon after still carrying the same label. The doctors prescribed physiotherapy which she tried. She would carry him on her back for sessions at the nearby hospital but with time it became too expensive and he became too heavy. The future looked dark and bleak — until she joined medical school.

Yes. Through blood, sweat and tears she completed her first degree and didn’t stop at that. Her first love had always been to become a medical doctor. A dream she felt compelled to pursue. So she applied and she was accepted. During her first semester while studying, she came across a photo of a child in a book. The only difference between this photo and that of her son was the colour of the skin. But they could have easily been twins. He had the exact same facial features. A large tongue, short fingers, swollen hands and drooping eyes. Below the photo it said features of cretinism. She was confused. She felt a monstruous sense of agony exert itself in her life.

Because she had access to more Paediatricians at the University, she approached one and told her her story. She asked her to bring her son in. He was five years old by now yet still frozen in time. She carried him to her office and the paediatrician ran thyroid function tests. And there it was. His levels were unbelievably low. He had hypothyroidism all along. A treatable condition that had gone undiagnosed. She did not know whether to be happy or sad.

He was started on medication — Levothyroxine. ( For the sake of this article let’s call it Levo). And within a week, he was standing with support. A week! It’s a wonder how the human body responds when it is given exactly what it needs. This is because she had tried all other remedies. Herbs, diets and vitamins — nothing had worked. But on Levo his improvement was remarkable. He was no longer frozen. He thawed and started to grow in leaps and bounds. But his mind unfortunately remained behind.

He was classified as mentally retarded even if he had caught up on the other milestones. Because she was still a student at the university she couldn’t afford therapy. Of any form. They had prescribed speech therapy — a pipe dream. So she did what she could, with what she had. She still tag-teamed with her mum to care for him. Taking him up during the long holidays and then taking him back while she studied; determined to complete med school.

What doesn’t kill you will likely try again. After medical school, when Barry was 11 years old she conceived again. An anxious period for her. Because she was now enlightened, she underwent several tests to ascertain she was ok. And she was. All the tests were normal. When she delivered her second son — Eli, she had him tested at birth and his tests turned out ok. Until the day he started to choke on milk a month later. When they repeated the test, there it was. He too had hypothyroidism. Lucky for him, they caught it early and started him on Levo, he turned out ok.

A third born later came, also a boy. And she went through the same tests during the pregnancy and for him after he was born. Luckily, he was spared. She doesn’t know why. A doctor in one of the hospitals in Nairobi took keen interest in her and did further tests on the children. It was discovered that the first two were born with underdeveloped thyroid glands. Reason? Unknown. She and her partner were tested repeatedly. It had nothing to do with either of them. A relief.

By this time she had grown accustomed to being labelled. Her mum in law advised her son to disassociate himself from her because she was producing ‘abnormal’ children. This despite there being nothing wrong with her. She went as far as to write a letter to her parents denouncing her and calling her a bad omen. She was unwelcome in their home because when she went she was an outcast — one undeserving of even greetings. She felt like her heart had been seared on a pan, flipped and turned over.

Her journey has been one of highs and lows. There is nothing she has not heard concerning her children. As a young doctor living in Nairobi, she had to work and attend regular appointments for both children. This meant she needed regular time off and it did not sit well with one of her supervisors.

“Why must you always be the one to take your children to hospital? Don’t you have a husband? Can’t he do it?”

She had no response. Where would she start?

Once when Eli had been admitted in hospital with meningitis, a colleague told her that maybe she needed to change her sperm donor — that the current one had bad seed. Maybe her luck would change. Why else were her children so unlucky on matters regarding health?

Barry is now 22 years old — with the physique of a man but the mind of a child. She uses sign language to communicate with him. Sometimes he gets frustrated and angry, when he can’t express himself. He makes noises and bangs things. Disciplining him is hard and she has to do it because his dad is as rare as raindrops in the desert. Because of his size and his mental capability, he once got physical with her while she tried to discipline him; a scary event she doesn’t like to revisit.

“Sometimes I am scared of how I will handle him when he gets older.” She said

His younger brothers are well — physically and mentally and so far her heart is strong and stable at room temperature. Her message to parents is not to ignore any sign of abnormality you may see in your child. And there is no harm in a second opinion. Is she bitter? She was. She feels her boy was unfairly labelled and because she didn’t know any better — the label stuck and time was lost. She has however chosen not to stumble over things that are behind her and is advocating for thyroid function tests to be part of routine newborn screening across the country.

Her message to her colleagues is to ask questions, research and always take a second look. It may take longer, cost more but might change the course of a life. It may have changed the course of hers.

Written with consent from Dr Jane Tum

Congenital hypothyroidism (Cretinism) is one of the most common, treatable causes of intellectual disability. It is a condition that causes the body to have little thyroid hormone. Babies can be born with it.

There is a gland in the neck called the thyroid gland. It makes thyroid hormone. This hormone controls how the body uses and stores energy.

It is a serious condition because it can cause life-long learning problems if it is not treated.

Symptoms can include:

●Being less active than other babies

●Slow movements

●Hoarse-sounding cry

●Problems with eating


●Unusual appearance — large tongue, bulging around the belly button, or large soft spots on the head

●Muscles that are less firm or strong than those of other babies

●Dry skin

●Being very cold


If your baby has any of the symptoms see a healthcare provider.

Is there a test for congenital hypothyroidism? — Yes. Today, most newborn babies in the West have a blood test to check for congenital hypothyroidism. The test is done as part of the routine newborn screening tests.

Treatment— Congenital hypothyroidism is treated by giving a thyroid hormone pill every day. Mostly for life.

Children with congenital hypothyroidism need regular checkups. They also need blood tests to check hormone levels.

Some children grow out of congenital hypothyroidism.

Can congenital hypothyroid be prevented? — Not usually. But the learning problems it causes can be prevented by:

●Checking to make sure the baby is tested for congenital hypothyroidism right after birth.

●Giving thyroid hormone for as long as the doctor recommends.

●Making sure the child with congenital hypothyroidism gets regular checkups and blood tests.

What will my child’s life be like? — Most babies with congenital hypothyroidism live normal lives if the condition is found and treated soon after they are born.

Getting enough thyroid hormone is especially important in babies and young children. The thyroid hormone helps the brain develop. If a child’s brain does not get enough thyroid hormone, he or she can have learning problems. This causes life-long problems with thinking, learning, and doing daily activities.

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