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Down Syndrome Awareness

beth October 22, 2012

October is Breast Cancer Awareness month and everywhere you look you see pink.  But, October is also Down Syndrome Awareness month and all I see is blue and gold and an adorable little Sweet Pea.

What is Down syndrome?

Down syndrome is caused by a triplicate copy of the 21st chromosome.  It is also known as trisomy 21.  It occurs in 1 out of every 691 births.

The most common form of Down syndrome is non-disjunction.  This form accounts for about 95% of all cases.  Non-disjunction is formed when one pair of chromosomes fails to separate evenly during meiosis (either the sperm or egg cell).  This causes the cell to have 24 chromosomes. When combined (at fertilization) with a “normal” cell (23 chromosomes), it results in a cell with 47 chromosomes instead of the normal 46.  Because this happens at fertilization, all the cells in the body will have 47 chromosomes.

Another form of Down syndrome is Mosaic Down syndrome.  Mosaicism accounts for about 2% of all cases of Down syndrome.  This is similar to non-disjunction, except the uneven separation occurs in one of the dividing cells of the fertilized egg.  As a result, the extra chromosome is not present in all cells, but rather in only a certain percentage of cells.

The third form of Down syndrome is called translocation.  Translocation accounts for 3% of all Down syndrome cases.  Unlike the previous forms, the chromosome count on karyotypes is usually 46 chromosomes.  Why this is still a form of Down syndrome is because there is still a third copy of the 21st chromosome.  The chromosome is just attached (or translocated) to another chromosome.

The most common translocation is to the 14th chromosome, although it can also be found on chromosomes 13,15,21 or 22.  This is the only form of Down syndrome that can be inherited (about 25% of translocation Down syndrome is inherited).  In inherited cases, the parent with the extra copy is called a balanced carrier- meaning they have one chromosome fused together and on a karyotype will show 45 chromosomes instead of 46.  Because there is no extra genetic material, the parent will not have Down syndrome.

What are some of the most severe health concerns?

The presence of an extra copy of the 21st chromosome can affect every system in the body.  Therefore, it is important to know what some of the health issues are the people with Down syndrome may face.  Not every infant or child with Down syndrome will have the same medical problems and some will have very few problems.  However, it is important to know what the health issues are so proper treatments can be sought.

There are a few types of health concerns that will require surgery and medical intervention.  The majority of their health concerns can be controlled through diet and other natural means.

What are the health concerns that require surgery to correct?  The two major concerns involve the heart and the gastrointestinal (GI) tract.

Approximately 40-60% of infants with Down syndrome will have some type of heart defect.  Sixty percent will involve either the lower (ventricular) or upper (atrial) wall between the chambers of the heart.  If the septal defect is small enough, it can close on it”s own.  Approximately 35% of the heart defects involve the entire wall of the heart.  This type of defect is called an atrioventricular canal (AV canal) defect.

 

The most severe GI tract defects include Hirschsprung disease, partial or total blockages, fistulas and atresias.  Like the most severe heart defects, these will require surgery to correct.

Children with Down syndrome are also at an increased risk of developing leukemia in the first 5 years of life.

What are some of the less severe health concerns?

Some of the less severe health concerns involve the respiratory tract (ears, nose and throat), the digestive tract (constipation), the thyroid and the skin.

Issues with the respiratory tract are related to the smaller features common in children with Down syndrome.  Smaller mid-facial areas, including nasal and sinus passages can contribute to more frequent colds and sinus infections.  Smaller Eustachian tubes (the tubes that drain the ears) can lead to more frequent ear infections.  Also, because of the smaller airways, children with Down syndrome are more prone to croup (either caused by a virus or allergies).

Constipation is very common in children with Down syndrome.  This is usually a result of the decreased muscle tone in the GI tract.

Thyroid issues, both hypo- and hyper- thyroidism, are more common as well.  Regular monitoring of thyroid levels can help determine what treatments may be necessary.

Children with Down syndrome tend to have more issues with their skin than typical children.  Some of these issues include severe eczema, chronic dry skin, chelitis (red, scaly skin at the corners of the mouth) and seborrhea (similar to eczema, but appears greasy looking).

What are some alternative therapies?

While there are special circumstances that require conventional medicine, most of the health concerns for children with Down syndrome can be treated the same way that you would treat a typically developing child.

Eczema and other skin conditions can be treated and controlled through diet and with the use of coconut and other essential oils.

Constipation can be treated with fruit juices, coconut oil, fiber, and other natural food laxatives.

Chiropractic care can help with sinus and ear infections.

Croup can be treated with warm air, although croup can develop into pneumonia easier in children with Down syndrome than in typical children.  It is always a good idea to monitor the progression a bit more.

Children with Down syndrome tend to have suppressed  immune systems.  Supplementing their diet and making sure they are eating as healthy as possible are all good ways to help strengthen the immune system.  Breastfeeding will also strengthen their immune system.

With more and more research being done into how the extra genetic material affects the body, more and different therapies will be available.  While there is no *cure* for Down syndrome, each and every day brings new opportunities for every child to reach their full potential.

Do you have a child with Down syndrome? Do you treat some of their health issues naturally?

 

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I’m Kate, mama to 5 and wife to Ben.  I love meeting new people and hearing their stories.  I’m also a big fan of “fancy” drinks (anything but plain water counts as ‘fancy’ in my world!) and I can’t stop myself from DIY-ing everything.  I sure hope you’ll stick around so I can get to know you better!

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