Tay-Sachs Disease

Kali McCornac Apoorva Mathur

Initial Symptoms Seizures

Increased Startle Reaction Decreased Eye Contact Listlessness Increasing Irritability

Symptoms

Slow Body Growth with Increasing Head Size Delayed Mental and Social Skills Behavior Changes such as the child stops smiling, crawling, rolling over, and losing the ability to grasp out or reach out. Progressive Symptoms Feeding Difficulties Abnormal Body Tone Loss Of Motor Skills Blindness Deafness

There are certain treatments to make the patient comfortable. Therapists can provide chest physiotherapy to reduce lung mucus. When the child can no longer swallow a Nasogastric tube or an Percutaneous Esophago-Gastronomy tube is used. Medication is also available to reduce symptoms. Physical Therapy is given to keep joints

Treatment

Can Tay-Sachs Be Cured? There is no cure for Tay-Sachs.

Cures such as Gene Therapy, GM2 Ganlioside Inhibitors, Cord Blood Transplants, Chaperone Therapy, Stem Cell Therapy, and Enzyme Replacement Therapy are being researched. The main reason for why many of these cures dont work is because many of theses cures cant cross the blood barriers in the brain.

How is Tay-Sachs Inherited? Tay-Sachs is an autosomal recessive

condition. It is passed from parent to child through the defective HEXA gene in chromosome number 15. If both parents are carriers then there is a 25% chance their children will have the disease and a 50% chance they will be a carrier.

Tay-Sachs Statistics
Tay-Sachs disorder is extremely rare. Each year about 16 people are diagnosed with Tay-Sachs Disorder in the United States 1 in 250 people in the general population are carriers.

Tay-Sachs Prevalence
Askenazi Jews are at the highest risk of inheriting Tay-Sachs. 1 in 27 Jews are carriers. It is also prevalent in people of French/Canadian and Cajun heritage.

Average Life Span

Children usually die at the age of four or five. This is because the disease starts affecting the baby while it is still in the womb. Most symptoms start to appear when the baby is 3 to 6 months old.

Ethan is just a loving kid, she said. We plan to use the experience to make him stronger as a person and not see it only as a traumatic event.

The Cairns receive support from their family Matthews father Robbie and stepmother Paula Cairns, of Blue Springs and their extended

Family Affects

family in their hometown of Silver Lake, Kan., a small town outside of Topeka.

They also have a loving babysitter, whose family has adopted them, and they receive many e-mails through Isaiahs Web site,

www.caringbridge.org/visit/isaiahproject.

They also have the support of staff from Childrens Mercy Hospital.

Its been awesome support, Matthew Cairns said. Mary agreed.

Were so loved, so supported, she said. If it all just werent so traumatic. Its bittersweet.

Childrens Mercy also connected the Cairns with Bryce and Amy Anderson, of Chillicothe, Mo., whose 2-year-old son Charles also has TSD.

The families visit and have become close friends.

Personal Reflections
I have learned that dealing with a gene disorder is extremely hard for a family especially when they find out that their child is going to pass away before it even has a chance to live. I have also realized how lucky I am to be able to enjoy the world and be able to fully appreciate life.

A Peak Into Adult TaySachs

http://www.ygyh.org/tay/have05.htm

More Information
Tay-Sachs is a very rare and complicated disease. If you wish to learn more about it we have a few suggestions for where you can find more information.

http://www.ninds.nih.gov/disorders/taysachs/taysac http://ghr.nlm.nih.gov/condition/tay-sachs-disease

http://kidshealth.org/parent/medical/genetic/tay_sac

Works Cited
http://www.mayoclinic.org/tay-sachs-disease/treatment.html http://www.mayoclinic.org/tay-sachs-disease/symptoms.html http://019221f.netsolhost.com/research.shtml http://nervous-system.emedtv.com/tay-sachs-disease/inheriting-tay-sachs.html http://kidshealth.org/parent/medical/genetic/tay_sachs.html#