Our daughter Samantha died on August 7th 2014 Samantha condition was not diagnosed until after she had passed away she was born with a genetic syndrome called trisomy 13 or patau syndrome (more on this below)

We have raised over 5.5 thousand to date having donating to Bumbleance & 2 cuddle cots to Our Lady's children's hospital Dublin.

This year on June 5th 2017 I am again running the mini marathon in my daughter's memory and "ENDURANCE FOR SAM " is supporting "A Little Lifetime " A charity that gives and has given us noting short of a lifeline they hold meetings and retreats for bereaved parents .

Thank you again for all of your support and following my journey this far .

facebook.com/EnduranceforSam

About the Syndrome

Trisomy 13
Trisomy 13 (also called Patau syndrome) is a genetic disorder in which a person has three copies of genetic material from chromosome 13, instead of the usual two copies. Rarely, the extra material may be attached to another chromosome (translocation).

Causes

Trisomy 13 occurs when extra DNA from chromosome 13 appears in some or all of the body's cells.

Trisomy 13 -- the presence of an extra (third) chromosome 13 in all of the cells.
Trisomy 13 mosaicism -- the presence of an extra chromosome 13 in some of the cells.
Partial trisomy -- the presence of a part of an extra chromosome 13 in the cells.
The extra material interferes with normal development.

Trisomy 13 occurs in about 1 out of every 10,000 newborns. Most cases are not passed down through families (inherited). Instead, the events that lead to trisomy 13 occur in either the sperm or the egg that forms the fetus.

Symptoms

Cleft lip or palate
Clenched hands (with outer fingers on top of the inner fingers)
Close-set eyes -- eyes may actually fuse together into one
Decreased muscle tone
Extra fingers or toes (polydactyly)
Hernias: umbilical hernia, inguinal hernia
Hole, split, or cleft in the iris (coloboma)
Low-set ears
Intellectual disability, severe
Scalp defects (missing skin)
Seizures
Single palmar crease
Skeletal (limb) abnormalities
Small eyes
Small head (microcephaly)
Small lower jaw (micrognathia)
Undescended testicle (cryptorchidism)
Exams and Tests

The infant may have a single umbilical artery at birth. There are often signs of congenital heart disease, such as:

Abnormal placement of the heart toward the right side of the chest instead of the left
Atrial septal defect
Patent ductus arteriosus
Ventricular septal defect
Gastrointestinal x-rays or ultrasound may show rotation of the internal organs.

MRI or CT scans of the head may reveal a problem with the structure of the brain. The problem is called holoprosencephaly. It is the joining together of the two sides of the brain.

Chromosome studies show trisomy 13, trisomy 13 mosaicism, or partial trisomy.

Treatment

There is no specific treatment for trisomy 13. Treatment varies from child to child and depends on the specific symptoms.

More than 90% of children with trisomy 13 die in the first year.

Possible Complications

Complications begin almost immediately. Most infants with trisomy 13 have congenital heart disease.

Complications may include:

Breathing difficulty or lack of breathing (apnea)
Deafness
Feeding problems
Heart failure
Seizures
Vision problems
When to Call a Medical Professional

Call for an appointment with your health care provider if you have had a child with trisomy 13 and you plan to have another child. Genetic counseling can help families understand the condition, the risk of inheriting it, and how to care for the patient.

Prevention

Trisomy 13 can be diagnosed before birth by amniocentesis with chromosome studies of the amniotic cells.

Parents of infants with trisomy 13 that is caused by a translocation should have genetic testing and counseling, which may help them avoid having another child with the condition.

Alternative Names

Patau syndrome

ENDURANCE FOR SAM

Created by Lydia O'Carroll

Gallery

Contact Us

Quick Links

Safe & Secure