About me
hi my name is amanda, i live in west yorkshire and have 3 children all in there teens, my eldest daughter sally is 19, my son reece is 17 and my youngest daughter kristen is 14. we have 3 cats dougal smog and tinkerbell and 2 turtles yellow and muddy. i became a grandma for the first time on 22.01.2009.to summer a beautiful baby girl weighing 3lb 1/2oz but she was sadly taken away from us the very same day she was born.
Summer was diagnosed with having Edwards Syndrome and also having a serious heart defect so at least we can now hope that she is not suffering any longer
god bless you my darling xxx
Here are a few details about Edwards Syndrome also known as Trisomy 18 and also Hypoplastic left heart syndrome that summer had.
What is Trisomy 18?
Trisomy 18, also known as Edwards syndrome, is a condition which is caused by a chromosomal defect. It occurs in about 1 out of every 3000 live births. The numbers increase significantly when early pregnancy losses are factored in that occur in the 2nd and 3rd trimesters of pregnancy.
Unlike Down syndrome, which also is caused by a chromosomal defect, the developmental issues caused by Trisomy 18 are associated with medical complications that are more potentially life-threatening in the early months and years of life. 50% of babies who are carried to term will be stillborn, with baby boys having higher stillbirth rate than baby girls.
At birth, intensive care admissions in Neonatal units are most common for infants with Trisomy 18. Again, baby boys will experience higher mortality rates in this neonatal period than baby girls, although those with higher birth weights do better across all categories.
Some children will be able to be discharged from the hospital with home nursing support for their families. And although less than 10 percent survive to their first birthdays, some children with Trisomy 18 can enjoy many years of life with their families, reaching milestones and being involved with their community. A small number of adults (usually girls) with Trisomy 18 have and are living into their twenties and thirties, although with significant developmental delays that do not allow them to live independantly without assisted caregiving.
What causes Trisomy 18?
At conception, 23 chromosomes from the father and 23 chromosomes from the mother combine to create a baby with a set of 46 chromosomes in each cell. A trisomy occurs when a baby has three #18 chromosomes instead of the normal two. This is something that happens at conception. And although many parents worry about this, it is important to know that parents have done nothing before or during pregnancy to cause this disorder in their child.
Are there different types of Trisomy conditions?
The most common trisomy is Trisomy 21, also known as Down syndrome, where a baby has three of the twenty-first chromosome. Trisomy 18 is the second most common trisomy and occurs when a baby has three of the eighteenth chromosome. This results in 47 chromosomes instead of the normal 46 in the affected cells. It is this extra genetic material that causes the problems associated with Trisomy 18. The third most common is Trisomy 13, also known as Patau syndrome.
While there are different types of Trisomy 18, this does not mean one is better for a child than another. With each type, there is a range of possibilities. Some children are medically fragile while others thrive; some children walk while others are confined to wheelchairs. It is hard to say how the extra chromosome will impact an individual child from the genetic diagnosis alone.
Types of Trisomy 18:
Full Trisomy 18: The most common type of Trisomy 18 (occurring in about 95% of all cases) is full Trisomy. With full Trisomy, the extra chromosome occurs in every cell in the baby's body. This type of trisomy is not hereditary. It is not due to anything the parents did or did not do—either before or during pregnancy.
Partial Trisomy 18: Partial trisomies are very rare. They occur when only part of an extra chromosome is present. Some partial Trisomy 18 syndromes may be caused by hereditary factors. Very rarely, a piece of chromosome 18 becomes attached to another chromosome before or after conception. Affected people have two copies of chromosome 18, plus a "partial" piece of extra material from chromosome 18.
Mosaic Trisomy 18: Mosaic trisomy is also very rare. It occurs when the extra chromosome is present in some (but not all) of the cells of the body. Like full Trisomy 18, mosaic Trisomy is not inherited and is a random occurrence that takes place during cell division.
What are the characteristics of Trisomy 18?
The genetic material from the extra eighteenth chromosome can cause a variety of problems with varying severity. Just as children with Down syndrome can range from mildly to severely affected, the same is true for children with Trisomy 18. This means that there is no hard and fast rule about what Trisomy 18 will mean for your child. However, statistics show that there is a high mortality rate for children with Trisomy 18 before or shortly after birth.
Typical characteristics of Trisomy 18 include:
Heart defects:
VSD (Ventricular Septal Defect): a hole between the lower chambers
ASD (Atrial Septal Defect): a hole between the upper chambers
Coarctation of the aorta: a narrowing of the exit vessel from the heart
Kidney problems
Part of the intestinal tract is outside the stomach (omphalocele)
The esophagus doesn’t connect to the stomach (esophageal artesia)
Excess amniotic fluid (polyhydramnios)
Clenched hands
Pocket of fluid on the brain (choroid plexus cysts)
Rocker bottom feet
Delayed growth
Small jaw (mycrognathia)
Small head (microcephaly)
Low-set ears
Strawberry-shaped head
Severe developmental delays
Umbilical or inguinal hernia
Hypoplastic Left Heart Syndrome
In babies with HLHS, the aorta and left ventricle are very small, and the aortic and mitral valves are either too small to allow sufficient blood flow or are atretic (closed) altogether. As blood returns from the lungs to the left atrium, it must pass through an atrial septal defect to the right side of the heart.In a healthy human, the left side of the heart receives oxygen-rich blood from the lungs and pumps it out to the rest of the body; with these structures underdeveloped, they cannot circulate blood to other organs, and the right ventricle must pump blood to both the lungs, as it would normally, and to the rest of the body, a situation which cannot be sustained for long.
In cases of HLHS, the right side of the heart often must pump blood to the body through a patent ductus arteriosus. As the ductus arteriosus usually closes within eleven days after birth, blood flow is severely restricted and eventually cut off, leading to dangerously low circulation and eventually to shock.
Without treatment, HLHS is fatal, but with intervention, an infant may survive. A pediatric cardiothoracic surgeon may perform a series of operations or a full heart transplant. In the meantime, the ductus may be kept open to allow bloodflow using medication containing prostaglandin. Because these operations are complex and need to be individualized for each patient, a cardiologist must assess all medical and surgical options on a case-by-case basis. After assessment the child's parents are given a percentage chance of survival and the choice of surgery or to take the child home to pass away.The two methods for treatment of HLHS are transplantation and a three-stage surgical procedure. Each of these are open heart surgeries (meaning the chest is open and the sternum has to be separated), requiring the child to be on a heart bypass machine for at least five hours. The heart is stopped and the heart bypass machine pumps blood to the body. After successful surgery is performed there can be added complications of restarting the heart and getting the child off the heart bypass machine.The three-stage procedure is a palliative procedure (not a cure), as the child's circulation is made to work with only two of the heart's four chambers.
I hope this information is useful to parents with babies with these conditions i know it helped us understand a little of what was going on as you know the information that they tell you at the hospital doesnt really sink in.
