Down Syndrome Awareness

Down syndrome is a condition that affects approximately 45,000 Canadians. 

There is no scientific evidence as to what causes Down Syndrome, but scientists do know that the risk increases as the mother’s age increases. A woman who is 30 has a 1:1000 chance of having a child with Down syndrome, while a woman who is 35 has a 1:400 chance of it. By the time a woman reaches 40 the chances increase to 1:100. 

Down Syndrome is also most commonly know As Trisomy 21, due to the fact that it is caused by an extra 21st chromosome. There are, however, 3 types of Down Syndrome. There is Trisomy 21 where all cells are affected by the additional 21st chromosome. This is the most common form of Down Syndrome.

The second form is called translocation Down syndrome. This occurs in 3-4% of cases. This is the only form of the condition that can be hereditary. If your child is found to have translocation, you should advise other family members so that they have the option of genetic testing. It is possible to have translocation Down syndrome and not know it. This is called balanced translocation. It has symptoms, but they are common with several conditions. The symptoms are fertility issues, miscarriages and an increased risk of having a child who has medical issues.

The third type is called Mosiacism. This is where there is a problem with the copying of cells when they reproduce. This causes some cells to have 46 chromosomes and some to have 47. Different parts of the body can have different levels of mosiacism. This does not have any bearing on the medical conditions that will be present but it can have bearing upon how defined the common characteristics will be. 

What are the common characteristics of somebody who has Down syndrome?

  • Abnormal outer ears
  • Flat face/head
  • Almond shaped eyes
  • Protruding tongue
  • Wide face
  • Short hands
  • Short neck
  • Low muscle tone

It is important to note there are more characteristics associated with this condition, and not all people who have this condition have any/all of the characteristics. It is also important to note that the presence of these does not necessarily indicate Down Syndrome.

It is very important to note that Down Syndrome can be passed on by either parent. Having a child who has Down syndrome does not mean the mother was the one who passed along the extra chromosome.

So… What is it? What happens with Down syndrome?

A baby who is born with Down Syndrome will often be sent for an ECG and an ECHO. These are tests on the baby’s heart. 40% of babies with Down syndrome also have congenital heart defects. While this is a scary number and a scary thought, know that these defects are almost always treatable. Sometimes they require no medical assistance at all and heal on their own, or do not pose any threat to be left alone. Other times they require medication or surgery. Your medical team will help guide your decisions to the best of their ability.

As your baby gets older, they will probably require ear and eye tests fairly regularly (every 6-12 months) as approximately 50% of children who are born with Down syndrome also have vision problems and/or frequent ear infections that cause some degree of hearing loss.

Hypothyroidism is also very common in people who have Down syndrome. This will need to be checked regularely. Hypothyroidism is where your body does not process carbs & fats as efficiently as it should. This can lead to feeling tired &/or “sluggish”, weight gain and several other issues. This is normally controlled via oral medication.

Low muscle tone is very common in children with Down syndrome. Due to this they will often achieve milestones later than their peers, but it’s important to realize that the majority of the time they DO reach them eventually. Please do not compare your child who has Down syndrome to their peers. It’s not a fair comparison, and will lead to very negative feelings/emotions by both yourself and your child. With a child who has Down syndrome, attitude isn’t just important, it is everything. Your attitude can make or break your child’s success. Encouragement and inclusion are your child’s best chance for success. 

Inclusion is so important for children with Down syndrome. While they may learn slower than their peers, they learn the same way as their peers, therefore it is extremely important that they be included in activities with their peers.

Occupational therapy, physical therapy and speech therapy and assessments will become a very important part of your lives. Your child will likely benefit from at least one form of therapy. These therapies will likely be a part of your life for a very long time, possibly forever.

As your child ages, your doctor will likely recommend routine x-rays on their neck/skull to assess any instability, which can occur more commonly with people who have Down syndrome than it does with people who don’t have it. These x-rays will likely be done between 3-4 years old, again at 10-12 years old, again at 18 and finally at 30.

Dementia  is fairly common is people who have Down syndrome which makes annual check ups even more important. The early signs of it can begin to appear as early as 30-40 years old.

People who have Down syndrome can and do lead very active and normal lives. For some, this means living and working 100% independently whereas for other it means holding a job but living at home with family or in an assisted living home. 

Screening tests are available during pregnancy, but they all have their risks. If you do choose to do a screening test, please remember that while the tests can determine the presence of an additional chromosome, there is no test that can determine what that will mean for you or your child. No test will tell you how smart or delayed your child will be. No test can tell you how many or how few medical conditions will be associated with the condition if it is detected. No test can tell you what your child’s personality and level of determination will be. 

If you have gotten a prenatal diagnosis of Down syndrome and need someone to talk to please don’t hesitate to reach out, we have a few members of the group who would be happy to help you navigate your way through any questions you may have… Speaking not as a medical professional, but as a parent who has been through it before.

World Down syndrome day is March 21st, according to Canadian Down syndrome society, and Canadian awareness week is November 1-7th inclusive.

Take care of yourselves. ~C

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