Isabella (“Bella”) Brock
Bella’s story: Isabella (Bella) Theresa Brock was born December 5, 2008 in Santa Rosa,
California. She was diagnosed with CS Type II at 9 months. Bella was a normal weight
and size at birth (6 lb, 10 oz) and my pregnancy was normal (no complications), but had
difficulty feeding and failed the Newborn Hearing Screening. In the months to follow she
did not gain weight at the expected rate. We noticed early on that Bella was not tracking,
responding or hitting milestones at the expected times. We discussed our concerns with
our doctor, who referred us to a pediatric ophthalmologist and a pediatric neurologist.
The ophthalmologist found that Bella was tracking, albeit slowly, and that her distance
vision was limited. The neurologist ordered an MRI, an EEG and a Chromosomal “work-
up”. The EEG and Chromosomal testing were normal but the MRI revealed
microcephaly with a “simplified gyral pattern”. We were told that Bella would have mild
to moderate cognitive/developmental delays, but there was no evidence of a degenerative
condition and her diagnosis was autosomal-recessive. Wanting more information about
what this would mean for her, and for any future children (Bella is my first), we were
referred to a geneticist and a genetic counselor. Between her original diagnosis and the
time of my meeting with the geneticist, we discovered that Bella also had bi-lateral
congenital cataracts. Our Geneticist examined Bella and reviewed her history, and told us
he couldn’t rule out a more serious/degenerative condition (COFS), due to the presence
of both microcephaly and cataracts, and her failure to grow. We were originally told that
we would have to wait and see what happened with her growth and development before
we would have a definitive diagnosis because they were not aware of any test. In the
meantime, we could pursue physical and occupational therapy to help with her strength
and flexibility. I went online to research COFS further, and discovered there was a
genetic test available to identify a related disorder (Cockayne Syndrome) at Boston
Children’s. We requested that this test be done, and a sample of Bella’s blood (along with
ours) was sent off to Boston. The results indicated that Bella did indeed have the genetic
mutations that cause Cockayne Syndrome, and she was subsequently diagnosed with CS
II. We have been fortunate to receive excellent medical care, support and services
through our medical practitioners at Kaiser in Santa Rosa (where we live), Oakland and
San Francisco. Because they took our early concerns seriously, and followed through on
every test and lead we came up with, Bella received a very early diagnosis. She attends
physical and occupational therapy weekly, and had home visits from Easter Seals, the
Blind Babies Foundation, and an early intervention hearing “teacher”; all of which has
been very helpful with her contractures and tightness in her limbs and has improved her
mobility, vision and communication skills. After talking to other CS families, I know we
are extremely lucky to have gotten such an early diagnosis. Our geneticist referred us to
the Share and Care website, where we have gotten most of the information we now have
about CS, as well as support from the amazing people who run the network and all of our
wonderful CS friends and their families.
Bella is a sweet, cheerful, affectionate little person who loves and is adored by everyone
who knows her. She was born with a full head of beautiful black hair, which is the first
thing people notice about her (“Look at that hair!”). Bella loves to cuddle, play and laugh.
Her mom and dad are the best at making her giggle. She loves visiting with her many
friends and family members, giving hugs and kisses, whacking at shiny objects, pulling
hair and earrings, eating anything except food (she makes an exception for ice cream!).
Bella is very social and prefers to look at peoples’ faces rather than play with toys.
She can roll from her back to her tummy, but doesn’t like to stay there.
Bella attended her first CS Family retreat in Texas in 2010, where she was thrilled to
meet dozens of wonderful CS families. In October of that year, she participated in her
first Butterfly Walk, when Team Bella braved the rain in Santa Rosa’s Spring Lake Park
to help raise money and awareness for CS research and the Share and Care Foundation.