Dancing in the Rain
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A Trisomy 18 Journey

Life is not about waiting for the storm to pass. It's about learning to dance in the rain. -- Vivian Greene

Monday, March 3, 2014

Trisomy Awareness Month 2014

March has finally arrived! We are ready for spring although it is currently snowing here. :)
With the arrival of March we will renew our efforts to raise awareness for trisomy syndromes, particularly trisomy 18. 

Why March?

March is the third month and trisomy indicates three copies of a chromosome. 

What is trisomy?

Trisomy is three copies of a chromosome instead of the usual two.
A trisomy can occur with any of our 23 sets of chromosomes.
The most common trisomies are Trisomy 21 (Down Syndrome), then Trisomy 18 (Edwards Syndrome), and Trisomy 13 (Patau Syndrome).

How is trisomy diagnosed?

Trisomy can be diagnosed in utero by CVS or amniocentesis. 
Trisomy can also be detected with an accuracy of 97-99% in utero by less invasive blood tests such as MaterniT21 or Harmony.
Screening tests such as the first and second trimester blood screens can give you a risk ratio for two of the three most common trisomies (T18 and T21) but cannot give a diagnosis.
Markers of a specific trisomy may be identified on ultrasound but are also not definitively diagnostic. 
After birth, a blood test can be performed on a newborn baby suspected of trisomy to confirm the diagnosis if a diagnostic test was not performed in utero (as in my case).

After diagnosis, then what?

There are many statistics available on the survival rates of children born with various trisomies. For the rare trisomies (other than Down Syndrome), these statistics can be overwhelming and even devastating. The medical community is familiar with these statistics and with the many real challenges, physical and intellectual, associated with these diagnoses. What may be less familiar, though, is the idea that children born with T18 or T13 can live a life, even if short, full of hope, love, joy, and smiles, and that they also bring to those around them hope, love, joy, and smiles.

What kind of treatments, if any, are available?

At this time, there is no cure for trisomy 18/13. There are some physical characteristics that are common to these trisomies and each case must be addressed based on which of the anomalies or birth defects are present in each individual child. For example, children with trisomy 18 or 13 may require a feeding tube to receive adequate nourishment due to a cleft lip/palate or due to an inability to orally drink enough milk/formula to grow. Also, children with trisomy 18 or 13 are commonly born with various heart defects. In some cases, the heart defects are minor and can be managed with medications. In other cases, heart surgery may be needed, and there is growing evidence of the success of cardiac surgery in patients with t18/13 (to be discussed further in a subsequent post). These children may have digestive issues or recurrent infections that need addressing. Just as in the case of any child, especially a medically fragile child, you treat problems as they arise to the best of your and your medical team's ability. 

What about doctors? 

Finding physicians that will treat the expectant mom and her unborn child  and later her newborn child as patients and not as a diagnosis is imperative. Unfortunately, there are some physicians who will not want to perform a c-section or grant cardiac surgery based on the diagnosis alone. However, this is not at all true of all physicians. If a doctor is encountered that is not respectful or helpful in this journey, then keep searching. Each child (and their mom!) deserves kind, compassionate, effective medical care. Any less is unacceptable.

What about the fear of death and of suffering?

These fears are very real, and I don't want to minimize them. Many decisions regarding care will need to be made, and those are sometimes incredibly hard decisions. The reality is that life with or without a child trisomy can be marked by unforeseen challenges. In my experience, my daughter (with trisomy 18 and severe heart defects) experienced a lot of the same challenges as any baby (colic, gas, etc) as well as significant developmental delays that accompany t18. However, she also learned to smile and respond to her family members and to let us know when she did or did not like something. She made progress in therapy and brought us joy in ways we had never experienced. I am so grateful that we had a year together at home. Losing her was terribly sad, and we will always miss her. Her life was and is very precious. Our beautiful memories of her easily outweigh the fears and sadness we have faced. 

I don't know anyone else who has faced this. 

This was me, too. But this does not have to be a solitary journey. Many families have gone through this and they/we want to be there for anyone dealing with this diagnosis. I also have a post coming on this but want to list some good starting places: 

Facebook Groups (these are closed/private groups that those with a diagnosis can be added to)
T18 Mommies 
Trisomy Families

Thank you for joining us in our efforts to raise awareness of trisomy!


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