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Ansley Carl

Ms. Bennett

British Literature

7 October 2011

What it is like having CDLS

I have worked with children who have genetic diseases that are very rare. Cornelia Du

Lang Syndrome is the syndrome I have zoned in on because of how rare it is. This syndrome has

certain characteristics that can diagnose this disease but there is no cure. Cornelia Du Lang

Syndrome is a genetic disease that is a recessive trait and not always passed down from parents

to each child. The specific traits you can see physically from this syndrome are: birth weight

which is usually under five pounds and two and a half kilometers, size, head size which results in

Microcephaly which is a neurological development delay, facial features which are commonly

noticed as thick eyebrows that meet at the midline, and limb differences (Chrzanowska). Other

traits caused from this syndrome, which are not as common, are heart defects, hearing

impairments and vision abnormalities (Chrzanowska). These different traits are specifically

drawn to this syndrome and allow doctors and researchers to locate CDLS quicker so they can

start treatment for the child. Cornelia Du Lang Syndrome is a genetic disease that children get

from a recessive gene from their parents; this Syndrome is very rare and has no cure, but there

are ways to help maintain the quality of life for these children.

Cornelia Du Lang Syndrome is a genetic syndrome that is very rare and only common in

one of 10,000 children. CDLS can be noticed just by facial and limb differences. The physical

traits seen in CDLS are: facial features, development delays, behavioral issues, limb differences,

and at birth the size, weight and head size of the infant (Chrzanowska). A main trait of CDLS is

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Gastro Esophageal Reflux Disease (GERD) which is a common characteristic that children have

with CDLS; this is an eating disorder which makes it painful to eat and also causes behavioral

issues. The behavioral issues children have are not communicating how they feel or just not

answer a question or comment. They also have shut down and not do anything. A lot of physical

therapists have dealt with this during an appointment with the child (Butler). Bethany Butler is a

physical therapist who works with a child who has Cornelia Du Lang Syndrome. Bethany is also

the founder of B.E.A.T.S Inc. B.E.A.T.S Inc. stands for Bethany’s Equine and Aquatic Therapy

Services, this foundation is run to help all different children with disabilities and help them

function better as a child. Bethany has worked with more than one child with CDLS for years

now and understands the requirements for this syndrome (Butler). Butler explains; “This disease

can have progressing effects and digressing effects; the child I’m working with was progressing

tremendously and now is digressing rapidly (Butler). CDLS has no cure and it takes a lot of

work to help the child’s life stay as normal as possible. Physical therapy is the number one way

to have positive ways to help children greatly with this syndrome (“New Genetics and De Lange

Syndrome Study Findings).

The research already done on this topic has to do with the characteristics of the disease

and how to maintain it and what to do with a child who has this disease. When diagnosing with

CDLs doctors will do tests. The testing has to do with getting a blood sample and testing it for

certain genetic dysfunctions that are in the blood. When CDLS is confirmed with the diagnoses it

is best to have the child in some kind of therapy to help them develop correctly (U.S National

Library of Medicine). Having this disease requires children to be placed in special classes at

school and given special treatment to prevent the syndrome from getting worse (Vasich).

Researchers also have found out that CDLS allows children to live to the moderate living time

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for a regular person (Vasich). The different ways that are given to children allows them to have

control of the syndrome. This is why children see physical therapists and have certain diets. This

syndrome even being rare is crucial to find a cure, because no one knows when they are a carrier

of it and if their child is at risk.

Therapists such as Bethany Butler choose to work with children with CDLs because it

allows children to have a place in the world (Butler). Butler says, “Working with these children

has helped me be a better person in life and appreciate having my own children”. The therapy

needed helps the limbs and stretches of the stomach to not hurt the child constantly (“Gene

Discovered”). Each child is affected differently and some more severe more than others. CDLS

affects walking and talking because it zone in on the genetic dysfunction in the body (“Gene

Discovered). The main gene this disease effects is cohesion complex which holds sister

chromatids together during meiosis I and helps make sure that they segregate to opposite poles

during meiosis II and a chromatid is a single strand of DNA that is compacted. Also researchers

have found that on chromosome X and this disease currently can be on them (“New Genetics and

Du Lange Syndrome Study Findings”). CDLS is also a syndrome that presents itself the same

way all the time; it shows up differently which also shows how rare it is.

This syndrome is also a disease that can be maintained very easily and the child will live

a life just with regulations and help. Researchers have concluded that CDLS has no cure and will

be trying to find one but because it is genetic it is hard to do (Vasich). CDLS has been around for

years. It is a syndrome that will be “quiet” then come back and affect many children, which

means that this syndrome will effect a few children for a certain time then it will not show up for

an even longer period (“New Genetics and Du Lange Syndrome Study Findings”). What is found

about this syndrome is by the inherited gene from the parent or parents who carry it. SMC1A

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gene mutations have an X-linked pattern of inheritance. A condition is considered X-linked if the

mutated gene that causes the disorder is located on the X chromosome, one of the two sex

chromosomes (“New Genetics and Du Lange Syndrome Study Findings”). CDLS shows also a

form of autism that affects children in everyday life (“Gene Discovered”). CDLS and autism

both have similar characteristics such as, children get both diagnoses hereditary.

Autism is a development disorder that affects the function of the brain (Chrzanowska).

Autism affects many children throughout the world and it is linked to CDLS because Cornelia de

Lang Syndrome shows some characteristics of autism. The difference of why the characteristic

of CDLS is from autism is that CDLS is a syndrome and Autism is a disorder. Also another

difference between the two is the autism is more commonly diagnosed because it is carried by

more people than CDLS (“New Genetics and Du Lange Syndrome Study Findings”). The

similarities of autism and CDLs are severe language delays and learning disabilities

(Chrzanowska). CDLS majorly affects the development disabilities of the original works of the

body. It does not send the correct signals to the body at the right time (U.S National Library of

Medicine). The physical appearances are limb dysfunctions. Many children do not have arms or

legs or feet or hands that correctly develop. Hands and feet are the most common to not

completely develop in most children (Vasich). These effects the way a child can function of

using their hands and feet. Having these disabilities is also another reason why therapy is

involved with this syndrome because it helps the child learn different way to use other hands or

devices to help them in their lives. Many children are affected by these dysfunctions and have to

learn differently than other people without this syndrome. Researchers are still trying to link

other diseases or syndromes to CDLS because they are trying to get more information to how

this disease is occurs (Vasich). Learning this other syndromes is genetically passed down but do

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not make the same effects as does the CDLS gene. This gene is recessive and does not affect

every child.

CDLS is a syndrome that researchers need more information on and the syndrome still

needs a cure. It is a type of syndrome that seems to be on the back burner because of how

maintainable it is. This syndrome affects many children. It does not allow children to be in a

regular school atmosphere. This is because the syndrome affects the way the neurological brain

is supposed to work. Many children cannot comprehend the ways of a regular school atmosphere

which is why the children are placed in the special Ed classes, which allows them to learn in

different ways which is more helpful to the children. Many researchers believe that this

syndrome will either dissipate or they will find the true way of how it is coming on each genetic

report (New Genetics and Du Lange Syndrome Study Findings). The reason why researchers

believe that it will dissipate is because it is so rare. Researchers also want to find a cure because

the syndrome is able to help maintain a child’s life.

CDLS is a syndrome that affects children and has different effects on each and every

child because every child has other different traits from their parents, which affects each body

differently. Explaining CDLS with birth weight, size, and head size, having behavioral problems,

drastically different facial features, and sometimes not having limbs is the most common way to

detect this syndrome. Cornelia Du Lang Syndrome is a syndrome that many people do not have

to deal with, but then many people do. This syndrome is very rare and maintainable for a child’s

life, but still has no cure. Children in this life time are still affected. This syndrome still has

researchers on their toes looking for ways to help the children. Not only is this a rare syndrome,

it is not forgotten in research to maybe someday there will be a cure and to help the children with

it.

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Works Cited

Butler, Bethany. Personal interview. 1 Sept. 2011

Chrzanowska, Krystyna H, MD, PhD. “ DE Lange Syndrome .” MedScape

Reference. MedScape Reference . Ed. Dirk M Elston, Md, Albert C Yan,

MD, and David F Butler, MD. Web. 2 Sept. 2011.

<http://emedicine.medscape.com/ article/ 1116397-overview>. This

refence tells indepth information about CDLs. These Editors are experts

about this Genetic Disease.

“Gene discovered for debilitating Cornelia de Lange syndrome.” Women’s

Health Weekly 17 June 2004: n. pag. Global Issues in Context. Web. 7

Sept. 2011. <http://find.galegroup.com/ gic/ infomark.do?

&contentSet=IAC-

Documents&idigest=b527955b5caccdb4b4a2d40e86fe061a&type=ret

rieve&tabID=T003&prodId=GIC&docId=A118051994&source=gale&us

erGroupName=cant48040&version=1.0>.

“New Genetics and De Lange Syndrome Study Findings Recently Were

Published by Researchers at Pusan National University, Department of

Pediatrics.” Genomics & Genetics Weekly 21 Jan. 2011: n. pag. Global

Issues in Context. Web. 7 Sept. 2011. <http://find.galegroup.com/ gic/

infomark.do?&contentSet=IAC-

Documents&idigest=b527955b5caccdb4b4a2d40e86fe061a&type=ret

rieve&tabID=T004&prodId=GIC&docId=A247700110&source=gale&us

erGroupName=cant48040&version=1.0>.

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U.S. National Library of Medicine. “Cornelia de Lange syndrome.” Genetics

Home Reference . N.p., 30 Aug. 2011. Web. 2 Sept. 2011.

<http://ghr.nlm.nih.gov/ condition/ cornelia-de-lange-syndrome>.

Vasich, Tom. “ Researchers discover gene for Cornelia de Lange Syndrome, a

disabling childhood disease .” UC Newsroom [California ] 17 May 2004:

n. pag. Global Issues in Context. Web. 7 Sept. 2011.

<http://www.universityofcalifornia.edu/ news/ article/ 6377>.