Regan Hunter Heath

Life with 47 Chromosomes

Facts about Down Syndrome

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Down Syndrome means that your you have one more extra chromosome in each of their millions of cells. Instead of 46 they have 47. This causes a range of problems with the genetic makeup.

Every year 6 thousand babies are born with Down Syndrome. It occurs in all races, ethnic groups, soci-economic classes. (It can happen to anyone)

It is not know what causes Down Syndrome although maternal age is a factor. Here is a table with the Risk.

 Maternal Age

 Estimated Risk

 20

 1/1231

21

 1/1145

 23 my age

 1/1000

 25

 1/887

 30

 1/685

35

 1/274

 40

 1/78

 45

 1/22

 50

 1/8

(Hook, E.B., Cross, P.K. and Schreinemachers, D. M. {1983}JAMA 249;2034)


 

 

What are babies with Down Syndrome Like?

The following are characteristics are the most common. Remember that there is a great range of all these.

Low muscle tone~ called hypotonia

Facial features such as

Nose-broader nose and the nasal bridge will be flatter than usual

Eyes- the eyes may slant upward, also have small flaps of skin at the inner corner and brushfield spots(light spots in the iris)

 Mouth -The mouth may be smaller. In earlier years it was thought that the tongue of  Ds children was too large and that is why it seemed to protrude it is now know that it is because the tongue like other muscles is weak so Ds children need to learn to strengthen their tongue.

 Teeth- Teeth usually come in later and in an unusual order the teeth can be small and unusual shape ( Regan was 1 year old and got 5 teeth within the week OUCH!)

Size - Most Babies born with DS will be average in size however as they grow it is a a slower rate. There are specific charts for height and weight for DS children. ( Regan has had a very hard time gaining weight)

Down Syndrome children and adults do have some degree of mental retardation. That is they learn slowly and have difficulty with complex reasoning and judgement. This degree will vary tremendously. Children will learn and what he learns will not be lost. It will just take longer for them to learn.


 

Health Problems

There are many health problems that are associated with DS.

Heart defects occur in 40 to 45 percent of babies with DS. Most can be treated or repaired by surgery.

10 to 12 percent will have digestive problems.

Many children will have respiratory problems due to their lack of a good  immune system. (Regan has had many upper respiratory infections and has asthma which requires breathing treatments three times a day)

57% of babies will have crossed eyes(strabismus), other problems may be astigmatism, cataracts, and blocked tear ducts. We are currently watching Regan's  eyes for strabismus, his eyes don't always work together to process things.

Due to small ear canals some children have ear wax that cause hearing problems. It is said that 40-60% of children with DS have some sort of hearing loss. Regan scores with mild hearing loss on the lower frequencies.

13-54% have hypothyroidism which will require medication. So far Regan's thyroid test have been in the normal range.

The risk for Leukemia is 15 to 20 times greater in Down Syndrome children.


 

 

One of our favorite poems

 down syndrome creed

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