When we found out Rachel had Trisomy 18, we were
Trisomy 18 is a chromosomal disorder resulting in a
syndrome characterized by specific dysmorphic (small)
features and organ malformations. With Trisomy 18,
there are three copies of the 18th chromosome in every
cell of the body rather than the usual two. This syndrome
is also known as Edward's Syndrome. Rachel has very
few of the many physical deformities that are generally
The incidence is 1/8000 live births, with most resulting in
The female to male ratio for having Trisomy 18 is 4 to 1.
Originally our doctors gave us no hope. Trisomy 18 has a
very poor prognosis.
- 30% die by age 1 month,
- 50% by age 2 months,
- 90% by age 12 months,
- and 99% by age 10 years
Rachel has some Heart Defects typical of Trisomy 18:
Ventricular Septal Defect - A hole between the lower
chambers of the heart that prevents the heart from
pumping blood correctly; a heart murmur is generally
heard with this congenital defect. Rachel’s VSD is
fully occluded (on its own) with no shunting.
Atrial Septal Defect - A hole between the two upper
chambers of the heart which makes it difficult for the
heart to pump sufficient oxygen-rich blood to the
body's tissues; a heart murmur can be heard. Rachel’s
ASD is on the small side and poses no current threat to
Patent Ductus Arteriosus - A congenital heart defect in
which closure of a duct fails to occur, resulting in
abnormal direction of blood flow. Rachel’s PDA was
large and required a coiling procedure in May 2002.
The procedure had to be repeated in September of 2003
as the original coil began to leak.
Rachel has a horseshoe shaped kidney. Until she was
11, she was screened for Wilms Tumor (kidney cancer)
and Hepatoblastoma (liver cancer) quarterly because 18's
are significantly more prone to developing these diseases
in their early years.
Rachel’s brain is smaller than normal (microcephaly),
but there are no structural abnormalities. She had
amblyopia in her left eye, but eye muscle surgery
corrected her vision, which is now normal.
Rachel has low muscle tone and will not ever be able to
walk since her muscles cannot support her skelaton.
Rachel has some asymmetry in that her left side is
smaller and weaker than her right.
Rachel has had bi-lateral ear canal plasty to reconstruct
her ear canals, which were extremely small. She also had
ear tubes placed in both ears for many years. She
continues to have sinus issues because her nasal passages
Rachel has had an Adenoidectomy.
Rachel has a severe curvature of the spine and wears a
full back brace (commonly known as a TLSO) for
support. If she were a typical child, corrective spine
surgery would have been performed by now; however,
such an intense procedure is extremely risky for an 18.
The best thing we can do for her spine is to keep her body
well exercised so that her lungs remain open and clear.
Rachel was orally fed until spring of 2014, when it
became necessary to have a g-tube inserted into her
stomach. Since then, she has gained 15 pounds and is
We keep Diastat with Rachel at all times because she
is prone to seizures due to her syndrome. Fortunately,
Rachel has never had a seizure. Should 911 ever need to
be called, Rachel is a “full code.”
We wish there were a cure for Rachel’s Trisomy 18, but
We have learned to accept that and are continuing to do
what we feel is best for our daughter.
We have already witnessed God’s great love for Rachel in
the many wonderful people He has provided for Rachel’s
care and support.
--Bob & Aimee