Kleefstra Syndrome

Times Contributor

 

Imagine finding out you are pregnant. You deal with all the normal difficulties of carrying the baby until birth. On the final joyous day, a new person arrives into your life and household. 

Everything seems OK, but one day something seems a little off with your child. Another day goes by and more things trigger that maternal instinct within you that causes you to seek out medical care for your child.  It is determined that the light of your life has Kleefstra Syndrome. 

Kleefstra Syndrome is a rare genetic condition in which a tiny piece is missing from near the end of one of the body’s 46 chromosomes. Something this small has suddenly changed how you and your baby will live the rest of your lives.

“I am sure many times, Moms and their babies go home from the hospital without any suspicion at all that something is happening.  Parents always know their babies best, so they tune into things, or sometimes it is a doctor that makes the observation first,” said Dr. Micheil Innes, Associate professor and Clinical Geneticist, at the department of Medical Genetics for the University of Calgary.

The website www.Kleefstrasyndrome.org  said that some pregnant mothers have experienced symptoms such as less movement of the baby, some differences on ultrasound scans, and changes in amniotic fluid and slightly premature birth, which all could occur during normal pregnancy as well. There currently is no way to detect it early, because it doesn’t run in families or isn’t inherited. 

After birth, the  Kleefstra Syndrome children often have feeding problems, early seizures, developmental delay, low muscle tone (seem more floppy than usual), sometimes there are facial structure differences and later some developmental delays. They may also have some congenital defects in the heart or kidney or lung problems.

In the past, it might have gone undiagnosed or labelled as something quite different. Research is only about five years old and the Syndrome was recognized in 2010. The missing piece includes a gene called EHMT1. Its absence is believed to cause the major symptoms of the syndrome. The Syndrome often varies in intensity and may not be diagnosed right away, as it may not be the first thing that comes to the doctor’s mind. Dr. Innis said that dooctors may not yet know about the disease, but they should know how to access services, such as a geneticist, through the medical health system. 

“The internet is a great source of information and a great equalizer in the sense that it allows doctors or lay people to access information. We can understand why families would want to start looking into things. It should not be the family’s job to diagnose their child. They should be pointed to the right resources. The referral path would be for the doctor to refer to a pediatrician and then the pediatrician would refer to a geneticist,“ said Dr. Innis.

Dr. Innis said there usually aren’t any life threatening complications, but care of the child will be a lifetime commitment for the parent. 

“Through time we will learn more about the syndrome. Lifespan seems to be normal. Major medical problems tend to be rare. Things like congenital heart or kidney problems are usually treatable. We don’t still know everything about adults with this condition, although we believe there are many undiagnosed adults with Kleefstra Syndrome in the community,” said Dr. Innis.

Some people hear about gene therapy and think it is an option. However, Dr. Innis said that it would be difficult to apply, as it would have to be applied to every gene in the body, applied to the right place and if the proportions were incorrect it may cause more problems than it addresses. 

Dr. Innis anticipates with time, families with genetic disorders will have answers sooner and those answers will lead to treatment. The first step is finding the cause. Why the protein is altered in the chromosome is not currently known.

 “Genetics is going to change medicine; at least it is going to be mainstreamed into medicine. I think things like Kleefstra Syndrome will be made more quickly. Right now, it sometimes takes a long time for the workup to happen. The technology is not going to be the barrier anymore,” he said.

The rarer conditions sometimes do not receive funding to assist families with childcare or for research. Rare diseases are publically underfunded.

“We see a lot of individually very rare diseases, so they aren’t like asthma or diabetes, which are more common and affect more people and get more publicity. Each disease is so rare it is hard to set up research for that one disease,” said Dr. Innis.

He feels rare diseases are important for a number of reasons. Rare diseases affect millions of Canadians, if you add it up. He feels people should not suffer because their one disease is rare. What understandings scientists learn from treating a rare disease will be applied to treat common diseases. 

“People with rare diseases have always contributed in a disproportionate way to our understanding of science and of medicine. They are brave and courageous and they are willing to contribute,” said Dr. Innis.

He says one of the major challenges over the next 10 years will be to understand how the bodys proteins work genetically.

 “I think the power of genetics is understanding for any condition what is wrong at genetic level.  Understanding what protein it is supposed to make and why the protein isn’t working, then you can think of any number of therapies that might work.”

Danielle Leys, living in Carseland, is a child affected with Kleefstra Syndrome. The community sponsored a fundraising BBQ at the Carseland Hall, on May 4, to raise funds for her medical and education expenses. Donations can be made at the Alberta Treasury Branch. 

Funding for research can be made to the Alberta Children’s Hospital Foundation www.calgaryhealthregion.ca, which partners with Dr. Michael Innis genetic program. Designate the funds for Kleefstra Syndrome or genetics research.