Trisomy 18 aka Edwards Syndrome
Trisomy 18 is a genetic disorder in which a person has a third copy of material from chromosome 18, instead of the usual two copies. It is a somewhat common syndrome and three times more common in girls than boys.
The syndrome occurs when there is extra material from chromosome 18. The extra material affects normal development.
Symptoms
- Clenched hands
- Crossed legs
- Feet with a rounded bottom (rocker-bottom feet)
- Low-set ears
- Mental delay
- Poorly developed fingernails
- Small head (microcephaly)
- Small jaw (micrognathia)
- Unusual shaped chest (pectus carinatum)
Signs and tests
An exam during pregnancy may show an unusually large uterus and extra amniotic fluid. There may be an unusually small placenta when the baby is born.
A physical exam of the infant may show unusual fingerprint patterns. X-rays may show a short breast bone. Chromosome studies will show trisomy 18, partial trisomy, or translocation.
Other signs include:
- Hole, split, or cleft in the iris of the eye (coloboma)
- Separation between the left and right side of the abdominal muscle (diastasis recti)
There are often signs of congenital heart disease, such as:
- Atrial septal defect (ASD)
- Patent ductus arteriosus (PDA)
Tests may also show kidney problems, including:
- Horseshoe kidney
Treatment
Treatment of children with trisomy 18 is planned on a case-by-case basis. Which treatments are used depend on the patient's individual condition.
Support Groups
- Support Organization for Trisomy 18, 13 and Related Disorders (SOFT) - www.trisomy.org
- Trisomy 18 Foundation - www.trisomy18.org
Expectations (prognosis)
Half of infants with this condition do not survive beyond the first week of life. Some children have survived to the teenage years, but with serious medical and developmental problems.
Complications
Complications depend on the specific defects and symptoms.
I found this video on YouTube about Trisomy - the children are such angels and the parents so brave. It will only take a few minutes of your time but it will make you stop and think about your life and make you appreciate all you have:
My Story
Unfortunately my family know all too well about Edwards Syndrome. When I was two my mum gave birth to a little girl, Shannon Rose McKenna, who was diagnosed with the illness. Like so many other small babies who have suffered she was taken from us all too soon but I am sure my mum and dad could tell you what a precious little miracle she was.After 5 and a half weeks of life she was taken from us. She touched our hearts and will forever be a part of our lives even though I was too young at the time to know much about her.
The struggle my parents went through during them few weeks must have been beyond imaginable. To lose a child at any age if horrific but to lose one who you never really got the chance to know, one who never even made it home from the hospital is so painful its almost cruel.
Your parents are the most influential role models you have and mine and made me the person I am today. I am strong, independent and humble. They are amazing people and I never really knew the sacrafice they went through until I had my own children. I couldn't imagine loosing either Sienna or Mya - it's not worth thinking about. It's my nightmare but their reality.
Help
For anyone else going through this you should know that there is a support system out there. There are a few good charities and organisations that can offer you the support you deserve.http://www.trisomy18.org/site/PageServer?pagename=donate
http://www.soft.org.uk/
http://www.hopefortrisomy13and18.org/
I know that none of you knew my little sister and probably won't even take the time to watch the video above but while I had your attention on my blog I thought I might as well make you aware of the disease and all that it entails.
Thanks for listening
xxxx
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