"There's No Word for Down's Syndrome in My Language"

By Marissa Anto,

Children’s Hospital of Pennsylvania Neurology Volunteer

The new mama, Editha, tightly held her small six-week-old baby; only a tiny head visible, floating in a sea of pink ruffles from her dress collar and wrapped snuggly in a far too large fuchsia felt blanket. Just for context, it’s a balmy 80 degrees Fahrenheit outside. I notice baby Glory’s elongated almond eyes and immediately recognize the tell-tale sign of Down’s Syndrome. Before obtaining any history, I decide to examine the infant to confirm my suspicion. I find she has all the characteristic features including up-slanted palpebral fissures, transverse palmar crease on her hands, low-set ears, sandal gap toes and an increased skin fold at the nape of the neck. I start asking the young first-time mom questions about her pregnancy, the delivery and Glory’s first few weeks of life. Editha brought Glory in to see a neurologist at our mobile neuro clinic because she felt like the baby’s tone was low. Luckily, despite being small for gestational age (and with low tone), Glory was otherwise neurologically intact, feeding well and gaining weight. Yet I was concerned about her anterior fontanelle or soft spot on the top of her head because it was abnormally full and can signify hypothyroidism in a newborn. Hypothyroidism is a common hormonal abnormality that occurs in children with Down’s Syndrome and infants must be screened regularly for both this and blood count abnormalities as Down’s children also carry an increased risk for hematologic malignancy. Although Glory’s exam was largely reassuring, she needed to come to FAME ASAP for bloodwork (which couldn’t be done at her local clinic) to ensure she didn’t have any thyroid or blood abnormalities. Children with Down’s syndrome also carry a higher risk of congenital heart disease. Fortunately, Glory had a normal oxygen saturation and normal pink coloring without any appreciable heart murmurs. She would eventually need an echocardiogram or ultrasound of the heart to definitively rule out any heart defects.

As a pediatric neurologist, I am used to having tough conversations with families, explaining complicated and often distressing diagnoses. But how do you tell a new mom that her baby has Down’s syndrome when her language doesn’t have a word to describe the condition? In the United States, Down’s Syndrome or Trisomy 21 is fairly well-known to the public, with an estimated incidence of 1 out of every 700 babies born in the U.S. In Tanzania, this special population and the vocabulary used to describe them is virtually absent from mainstream society. I struggled to explain the condition and its common co-morbidities to Editha via an interpreter. Dr Anne tried looking up a Swahili word for Down’s but couldn’t find it. She asked one of our medical student interpreters, Abdulhamid, who also couldn’t come up with the appropriate terminology. I asked our social worker Kitashu, but he too said that, although he had previously seen some children with this condition, he had never known what it was called. Dr. Anne finally Googled a picture of children with Down’s and showed Editha, a look of understanding registering on her face. She said she now recognized what her baby has. 

Later that day, I searched online and found few posts on Down’s Syndrome in Tanzania. One was written by a mother of a child with Down’s Syndrome and was titled “There Is No Word for Down’s Syndrome in My Language.” In the article the mother details how there is no Swahili word to describe people with Down’s Syndrome and reflected that she had never known or seen children with Down’s Syndrome growing up in Tanzania. She speculated that families may have hidden children with Down’s or, even worse, completely neglected them due to the cultural stigma surrounding having children with special needs. She noted that there is virtually no data that exists regarding the incidence of Down’s Syndrome in Tanzania. The author of the article recounted that when her child was diagnosed with the condition, she unfortunately had very little support or guidance from the medical system in terms of what to do or expect for her child.

I wanted to make sure that this young mama before me did not feel the same way. I explained Down’s Syndrome to her and all the things we needed to screen Glory for at FAME. I explained that the baby’s fontanelle was full and that made me nervous, but the rest of her exam was reassuring. I gave precautions to return immediately should the baby develop any lethargy, vomiting, feeding intolerance or altered mental status prior to coming to FAME. Fortunately, Editha and Glory did come to FAME as instructed the following week. I was encouraged that Editha was able to make the two-hour journey to get her child the care she needed. Glory’s thyroid studies and blood count were both found to be normal. I reiterated all the things that would have to be routinely checked and what Editha should monitor for in baby Glory. I tried to reassure Editha that children with Down’s Syndrome can often lead very full, largely normal lives as long as their specific health care needs are met. Editha told me she only hoped that her baby would remain healthy and that she would do whatever she could to ensure this. This meant traveling two hours each way to FAME for a cardiac evaluation in a few months and making the long trip every time Glory needed blood work. I was reassured to see Editha so well-bonded to her baby, her affection and love obvious. She would do anything for this precious baby. And that is truly the most important thing a pediatrician can wish for any child but especially for a child with special needs.

 NOTE: The names of mama and baby have been changed to protect their privacy