She knew they would only have a few fleeting months together, but in that time Sarah’s unborn daughter would transform her understanding of beauty, worth, and the gift of life.
Happily married and teaching history at the University of Oxford, Sarah Williams had credentials, success, and knowledge. It took someone who would never have any of these things to teach her what it means to be human.
This extraordinary true story begins with the welcome news of a new member of the Williams family. Sarah’s husband, Paul, and their two young daughters share her excitement. But the happiness is short-lived, as a hospital scan reveals a lethal skeletal dysplasia. Birth will be fatal.
Sarah and Paul decide to carry the baby to term, a decision that shocks medical staff and Sarah’s professional colleagues. Sarah and Paul find themselves having to defend their child’s dignity and worth against incomprehension and at times open hostility. They name their daughter, Cerian, Welsh for “loved one.” Sarah writes, “Cerian is not a strong religious principle or a rule that compels me to make hard and fast ethical decisions. She is a beautiful person who is teaching me to love the vulnerable, treasure the unlovely, and face fear with dignity and hope.”
In this candid and vulnerable account, Sarah brings the
reader along with her on the journey towards Cerian's birthday and her
deathday. It’s rare enough to find a writer who can share such a
heart-stretching personal experience without sounding sappy, but here is one
who at the same time has the ability to articulate the broader cultural issues
raised by Cerian’s story. In a society striving for perfection, where worth is
earned, identity is constructed, children are a choice, normal is beautiful,
and deformity is repulsive, Cerian’s short life raises vital questions about
what we value and where we are headed as a culture.
https://www.amazon.com/Perfectly-Human-Nine-Months-Cerian/dp/0874866693#customerReviews
Sara Williams and her husband, Paul, have learned how to
trust God by walking through the fires of suffering.
A routine 20-week pregnancy scan revealed a problem. Sarah’s
baby had a lethal skeletal issue called thanatophoric dysplasia, a malformity
of the skeletal structure where the bones don’t develop sufficiently to allow
the proper development of the lungs. The baby was safe inside the womb but
would die at birth or shortly thereafter.
Sarah remembers the shock of hearing that the best medical recommendation for her situation was to terminate the life of her baby. Her first instinct was to view this as solely a medical situation that demanded solely a medical response. Why go through the suffering of giving birth to a child that has no chance for survival?
She now considers that response a defense mechanism against
her own fear and uncertainty.
Then an extraordinary thing happened to Sarah and Paul later
that night, after their terrible diagnosis.
Sarah says:
“As we prayed together, God spoke to us. We had no idea
until that night what people experienced when they say that. I can only
describe it as a deep sense that God was sitting on that sofa with us in our
despair. He was saying, ‘Here is a sick and dying child. Will you love her for
me and take care of her until she dies?’ That changed everything for us because
suddenly our circumstances weren’t so much about our capacity to deal with this
terrible situation, but about God’s love for this tiny, vulnerable baby that
the hospital didn’t even think of as a human being.”
It’s a hard truth: God doesn’t always rescue us from our
grief and pain. But He does always meet us in it.
Sarah and Paul faced great opposition from colleagues,
friends, and doctors. Yet, during labor, Sarah felt God’s presence as never
before, and knew He had come to take their baby (named Cerian, Welsh for loved
one) home.
https://jimdaly.focusonthefamily.com/honoring-the-preborn-cerians-story/
Thanatophoric dysplasia (TD) is the most common form of
skeletal dysplasia known to be lethal in the neonatal period. The term
thanatophoric derives from the Greek word thanatophorus, which means
"death bringing" or "death bearing." Salient phenotypic
features of TD include macrocephaly, narrow bell-shaped thorax with shortened
ribs, normal trunk length, and severe shortening of the limbs. See the image
below.
TD is divided into 2 clinically defined subtypes: TD type I
(TD-I or TD-1) and TD type II (TD-II or TD-2). The clinical subtypes of TD are
defined by either a curved or straight appearance of the long bones. TD-I, the
more common subtype, is characterized by a normal-shaped skull and curved long
bones (shaped like old-fashioned telephone receivers); the femurs are most
affected in TD-I. TD-II is associated with a cloverleaf-shaped skull and
straight femurs. However, reported cases have cited clinical overlap between
these subtypes.
Both TD-I and TD-II are part of a group of skeletal
disorders associated with mutations within the Fibroblast Growth Factor
Receptor 3 gene (FGFR3). TD-I and TD-II are due to an autosomal dominant point
mutation, with the gene responsible, FGFR3, being mapped to the short arm of
chromosome 4 (4p16.3). Penetrance of this mutation is 100%. Currently, all cases
of TD are due to de novo mutations in FGFR3. Germline mosaicism has not been
clearly documented but remains a theoretical possibility...
Epidemiology
Frequency
United States
Thanatophoric dysplasia (TD) has an incidence of 1 per
20,000 to 1 per 50,000 births.
International
Incidence in Spain is reported as 1 per 37,000 births.
Mortality/Morbidity
Newborns with TD are stillborn or die shortly after birth.
Death occurs usually within 48 hours and is due to severe respiratory
insufficiency from a reduced thoracic capacity and hypoplastic lungs and/or
respiratory failure due to brainstem compression. Survival into early childhood
has been rarely reported.
Sex
Males and females are equally affected.
Age
TD is lethal in neonates. Although extremely rare, survival
beyond the neonatal period has been described in the medical literature.
https://emedicine.medscape.com/article/949591-overview
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