World Down Syndrome Day 2019: An Interview With Down Syndrome Expert Dr Julia Kinder

Dr Julia Kinder is a Down syndrome expert, national speaker, author, career consultant, fitness guru, and family practice physician. Her multi-faceted career was inspired by her daughter, Ella, who was born with Down syndrome shortly after Julia started her medical practice. She has spent years educating, advocating, and consulting on Down syndrome, and is a firm believer in the unlimited potential of children with Down syndrome. March 21^st is World Down Syndrome Day, and we caught up with Julia to ask how scientists, parents, and doctors can work together to benefit the lives of people with Down Syndrome. 

Ruairi Mackenzie (RM): What is the biggest misconception you think society has about people who have Down syndrome?

Julia Kinder (JK): The biggest misconceptions are that people with Down syndrome cannot learn or understand,  and that they have low intelligence. I.Q. scores for people with Down syndrome vary, with the average cognitive delays being mild to moderate, not severe. In fact, normal intelligence is possible.

If a person with Down syndrome has difficulty with hearing, it can be misinterpreted as a problem with understanding. Likewise, problems with speech can be mistaken for low cognitive abilities. People with Down syndrome often have trouble with the physical ability to  produce speech due to low muscle tone. This can result in speech which is hard to understand, and tongue protrusion. This barrier to speech clarity is not a reflection of intelligence, but rather a reflection of difficulty with muscle control.

Remember, I.Q. tests and scores are controversial and flawed, and are not good indicators of a successful and fulfilling life.

RM: What are the facts and stories you’d like to highlight on World Down Syndrome Day 2019?

JK:

• 80% of babies with Down syndrome are born to moms who are under the age of 35. 

• Babies and toddlers can reach developmental milestones on time, or ahead of time.

• People with Down syndrome do not have large tongues; the oral cavity is small.

• Tongue protrusion can be prevented with the correct therapy.

• Down syndrome is not “the opposite of up.” It was named after Dr. John Down.

• Down syndrome is not a disease. It is a chromosomal variance.

• Children with Down syndrome are more like typical kids than they are different.

• Children with Down syndrome do not all look alike; they look like their families. 

• Poor speech does not indicate low intelligence.

• Children with Down syndrome are not always happy and loving; they experience the same full-range of emotions as any child. If anyone doubts this, they are welcome to spend some time in our household with our now teenage-daughter who has an extra chromosome.

RM: What role, if any, do you feel scientists have to play in helping people with Down syndrome?

JK: It is interesting that this extra chromosome creates such diversity. It can (but doesn’t always) impact physical characteristics, mental abilities, and health. These 3 main categories which may be impacted are affected at varying degrees from person to person. While each person with Down syndrome has this extra chromosome, every person with Down syndrome is unique and different. People with Down syndrome may have things in common, such as a heart defect, but others have no health problems at all.

I would like for scientists to better understand how this extra chromosome produces this variety of effects. With deeper understanding of the process, the development of treatments for issues such as early onset Alzheimer’s disease would follow. 

RM: What are the benefits (and challenges) of raising a child with Down syndrome that you would highlight?

JK: Personal growth has been an unexpected but tremendous benefit of having a child with Down syndrome. Ella has impacted all areas of my life, and I am a better person because of the life-lessons she has taught. Here are just a few:

• For every problem or barrier, there is a solution. This is the motto by which I now live my life, and it has created success not only in Ella’s life and our family, but has driven my career to  new heights.

• Life is unpredictable; we must take challenges that are presented to us as opportunities for growth. 

• There is always more than 1 way to do something.

• Everyone has challenges. We should all be celebrated for our successes, and not condemned for something we were born with, of which we have no control. 

Ella has an outgoing and social personality. She loves to spend time with people. One of the most difficult challenges for me has been to provide her with the interactions and time with friends that she craves and needs. While she has friends at school, they rarely initiate get-togethers with Ella outside of school time. I sense that they, and possibly their parents, are simply uncomfortable with Ella’s extra chromosome. I think they wonder if there are difficult issues that would make it hard to invite Ella over to play. In fact, there are no such issues. Ella is like any other girl her age.

It is very difficult for me to observe society making judgments about Ella based upon her appearance, before getting to know her. It makes me sad that Ella does not have more friends. 

RM: Some people might think that having an extra chromosome limits a child’s potential in life. From your own experiences with Ella and your many years advocating and consulting on Down syndrome, what are the ways in which parents and teachers can maximize the development of children with Down syndrome?

JK: To maximize the development of children with Down syndrome, it is crucial that therapies, early education, and early intervention are started at birth and continued until at least age 5. This is the time period when the brain is still developing and when proper physical development sets a foundation for a lifetime. This is the critical time to develop such things as clear speech, closed-mouth posture, the ability to read, expressive and receptive language, and to promote proper fine and gross motor skills.

Often, programs to assist children with development are not started until a child is behind developmental goals. This is the wrong approach. Infants, children, and toddlers should be supported so that delays are prevented.

RM: People with Down syndrome have seen their life expectancy double since the 1980s. What advances in medicine and society more widely have helped this figure rise?

JK: Advances in medicine have increased life expectancy in many populations, and those advances would impact a person with Down syndrome as well. I don’t believe there have been great advances in medicine that are particular or specific to Down syndrome.

Unfortunately, research of Down syndrome often does not have funding or even interest. As the cause of Down syndrome is known - the extra chromosome, there doesn’t seem to be much energy directed to further understanding this genetic variance.

I believe the improved life expectancy of people with Down syndrome is in large part a reflection of the increased value society places on people who happen to have that extra chromosome. As myths are erased, and perceptions improved, better healthcare is encouraged and supported. We cannot forget that until the 1970s, doctors in the United States still encouraged placing newborns with Down syndrome into institutions, where they did not receive adequate medical care, education, or nurturing. Any “normal” infant placed into those circumstances would not thrive or reach their full potential. We are just starting to recognize the potential of individuals with Down syndrome because we are allowing and supporting their growth and development.

One could argue, however, that the life expectancy has increased because those individuals with Down syndrome who are healthy are “selected” to be born. While science has discovered ways to identify a fetus who has Down syndrome, giving parents life choices, our society has not fully discovered the wonderful potential of these babies. Unfortunately, due to myths and outdated notions, fear of having a baby with Down syndrome is common. With technology to recognize a fetus with Down syndrome, and without accurate information about the realities of a child having Down syndrome, many pregnancies are terminated.

RM: As a physician yourself, how do you feel Down syndrome is viewed in the medical community, and what are the best resources for both physicians and others to learn more about the condition?

JK: I was a doctor when my daughter, Ella, was born with Down syndrome. Being a doctor did not prepare me for raising a child with Down syndrome. I did not know how to teach her or how to maximize her development. The doctors who cared for me, and for Ella, did not know how to help us either. Because Ella was born without any health problems, I was told she was “just fine” and sent home to figure out things on my own.

The medical community is aware of potential health problems caused by the extra chromosome and prepared to treat the medical conditions. The medical community focuses on the possible negative consequences and communicates this poor outlook to parents. The medical community does not do a good enough job of supporting families and of helping babies reach their full potential. They do not know how. This is not taught in training.

There is not a “map” for raising a child with Down syndrome. I found this maddening, and it fueled my fire for working with medical professionals, teachers, and therapists to show them how to support families and children. Training and education are needed.