How To Parent A Child Who Just Looks Different
Parents worry about their child's appearance. But when physical anomalies signal rare genetic disorders, insult hurts less than injury.
Whether it’s a cleft lip, a flat nose, or eyes that slant abnormally, it isn’t superficial to recognize that babies with unconventional physical characteristics and disabilities will be treated differently by society. And parents have every right to bear a deeper concern—that odd physical characteristics indicate more serious genetic disorders. Unfortunately, the medical community has not been particularly sensitive when it comes to talking about such children. The curt and cruel abbreviation FLK or “funny looking kid” is still something of a standard label.
“Those three letters have not been in use for 40 years, but strangely they’ve been repeated by non-healthcare professionals over and over,” Dr. Maximilian Muenke, a senior investigator at the The National Human Genome Research Institute, told Fatherly. Muenke, who currently works U.S. National Institutes of Health’s Undiagnosed Disease Program to diagnose rare syndromes and disorders in children, admits that in his four-decade-long career he’s heard a number a derogatory terms used to note physical aberrations. “It’s painful and not useful. Those three letters are an insult and those terms have to disappear completely from anyone’s thinking and vocabulary.”
Still, doctors like Muenke have to sensitively communicate their medical concerns about babies with abnormal physical characteristics. Here’s how he avoids making these discussions any more painful than they already are.
Without using derogatory terms or abbreviations, how do doctors track infants who appear to be developing differently in some sort of physical way?
What’s more important to track than appearance is developmental milestones. We’re trained to look for when a child walks, sits, babbles, has a responsive smile, and makes eye contact. That’s why pediatric visits the first two years are so important. Because the pediatrician knows that, if the baby has not turned over from the stomach to back or back to stomach at 12 months of age, then this child develops differently. When that’s all fine, any difference in facial appearance doesn’t matter one bit. Most of the time babies look like their parents and it’s just genetics at work.
So some kids with odd physical characteristics are perfectly healthy?
Sometimes if there’s a difference it’s because they resemble their parents. So a face of a child that looks different would not come to medical attention unless it was accompanied with some other delay. And only very rarely it will get medical attention if the parent is concerned about there being something different. I remember having a session with a family who brought in their newborn, their first son, who had a transverse palmar crease. When you fold your hands slightly and look at your palms, there will most likely be three creases that look like an “M.” Do you see that?
Well, sometimes there’s just one big crease, which is a transverse palmar crease, that goes through the palm. And the father was so worried that his son had two because he had read it was a sign for Down Syndrome — a genetic disorder the effects how a child looks, but more importantly some sort of intellectual impairment. He was extremely concerned about it, but I looked at the child, who was developing completely normally for a newborn. I saw the creases and asked both parents to hold out their hands, and when they did the father had identical creases on his hands and he didn’t have Down Syndrome, so his son probably didn’t have it.
How did he respond?
I explained to him about less than 1 percent of normal developing children have that crease, but about half of children with Down Syndrome do. So it makes sense to worry, but many things need to come together for it to be a genetic syndrome. And the wife just laughed because the husband was also a pediatrician.
Wow, all that from another doctor?
In that moment he was still a very concerned, first-time parent and that’s what healthcare providers are for, to alleviate concerns show that their child is developing. And this child was perfectly fine, there was just a little anxiety from the parent. Whenever parents have anxiety about if their child is developing different, they should ask their pediatrician.
So when would doctors keep an eye on on hand creases like that child had?
Doctors would only track minor dysmorphic features if there was some sort of developmental delay in addition to them. These are minor versus major anomalies. A major anomaly would be a heart defect, or an intellectual disability, or a cleft of the palate, or six fingers, or a split hand or foot. There are many major anomalies and doctors look for those, and then minor anomalies. And one of these wouldn’t make any individual difference, whether it was a single crease in the hand or a beautiful “M.” It only matters in context. If I have a newborn child who has a transverse crease, and has a sandal gap between the first and second toe, and has a flat face, and is floppy — that is low muscle tone, very hypotonic — those would be all signs that go together in a newborn that has Down Syndrome. And that is a genetic disorder that does not occur infrequently, so parents are usually concerned about it and what to do.
Is this true with other diagnoses or just Down Syndrome?
It’s always a part of a bigger picture. There’s not just upslanting eyes, or palpebral fissures, or a flat nose. The space between the lip and the nose is called the philtrum — a flat philtrum when it goes with a small head circumference, and a thin upper lip, those can all be signs of fetal alcohol syndrome. But one thing by itself doesn’t matter one bit.
Do pediatricians ever see these major and minor anomalies and encounter parents who are in denial about it?
Everyone wants a healthy baby, and it’s a shock to the system that sometimes parents use this defense of, “If I think my child is fine, then maybe they will be fine.” That happens frequently enough.
That must be difficult. How do you navigate that?
Well, that’s why there are multiple trips to the geneticist. Then we’ll think, “OK, I explained it last time in a way I thought they would understand, but their way of dealing with it is pretending it’s not there.” And then it’s good to talk to the parents again. It makes perfect psychological sense because you expect a healthy child, and some parents pretend it’s a healthy child, but it’s not.
What happens when you see something is obviously wrong, there are major and minor anomalies, but you don’t have an exact diagnosis or know what to expect?
The problem is many of those are not obvious at first, but the first telltale sign is that the child develops more slowly. New parents may not worry if their child is not turning over at six months, but if they aren’t turning over at nine months or a year, that means there’s a real problem there. Sometimes it’s hard to figure out that the problem is. But if the child is seeing their pediatrician on a regular basis, they would say that we have to do something. And then there are some disorders where children already achieve a developmental milestone and eventually they lose that developmental milestone, and that’s something that’s very, very hard for parents.
They’re perfectly fine at birth and develop fine — seem to turn around, have a responsive smile, and babbles. But then there are disorders where the development that was there regresses and the child goes backward. Even though these disorders are very very rare, they occur occasionally. It’s very sad.
That’s devastating. Given your experience, what advice can you offer parents dealing with a difficult situation? How can they cope with their child developing differently?
The most important thing parents can do is keep up with regular visits to their pediatrician, and if there’s anything to be concerned about they will be referred to a medical geneticist. With their expertise, they can figure out how we can we help this child. Parents in these situations want to know several things — how will this child develop, what can we do for this child, and third, can this happen again? Knowing that this is unlikely to happen again can be a relief to parents. The question of how this child will develop can sometimes be that one of the enzymes that helps with metabolism isn’t working properly, but if we put them on a special diet, they will develop completely normal.
But for all those questions, you have to have a diagnosis first.
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