Our daughter Holly is 4 years old and was diagnosed with
Cohen’s Syndrome in August 2015. We live in Scotland in the UK. Thanks to Jamie for allowing me to share
a little bit of our Cohen’s Syndrome story.
When Holly was born, we had no
reason to suspect anything was wrong. Weighing in at a very healthy 9Ibs, she
was absolutely perfect. Big almond shaped eyes, long eye lashes and squidgy
chubby cheeks. Breastfeeding was slow to start, but once we both got the hang
of things it was plain sailing. At her 6 week check the health visitor noted
that she had poor head lag and said she would keep an eye on things, but we weren’t
concerned. We were delighted with our lovely baby girl and we got on with the
joys of parenthood.
When she was about 6 months I started to get an uneasy
feeling that all might not be well. She didn’t roll over and wasn’t that
interested in toys. Smiles and laughs came but we had to work hard for them.
More than that I was concerned about how passive she was. She didn’t look for
my attention, or cry for me when she woke up – she just didn’t seem to be that
interested in people or the world around her. Deep down I knew that it wasn’t
normal for a baby to be so quiet and content; but I reassured myself with
stories from friends of other babies who rarely cried or hadn’t met any of
their milestones on time, but were totally fine.
She did sit up at 6 months, but by the age of 1 could not
crawl and would not bear weight on her legs. At this stage we were referred for
physiotherapy and occupational therapy to help progress her gross and fine
motor skills. We also saw a pediatrician who sent her for a hip x-ray, eye
tests, hearing tests, basic genetics tests and a full blood count; but
everything came back normal.
By 18 months she was much more engaged with life, laughing
more and taking huge enjoyment from her toys and books. She could kneel, get
round by rolling and with regular use of a standing frame, started to tolerate
weight bearing. At 22 months she started to commando crawl and gradually could
crawl properly and pull to stand.
We continued to search for a reason for her difficulties and
were referred to a geneticist to see if she recognized any of Holly’s facial
characteristics and traits. First she tested for Rhett’s Syndrome. I went
straight to Google and was instantly distraught as well as puzzled, as none of
the descriptions seemed to fit. When this came back negative she mentioned
Cohen’s Syndrome. I still wasn’t sure. I read stories of sickly children with
low birth weights, failure to thrive, neutropenia, blindness – none of which
sounded like our Holly. However I couldn’t deny that she had the hypotonia, microcephaly
and general developmental delays as well as long slim fingers and under
developed small feet. Then there were the photos – lots of other beautiful
little children with curly hair, big eyes, chubby cheeks and rose bud mouths.
Maybe they were right after all…… Holly’s DNA was sent to Holland and 5 very
long months later (age 3), we had our answer.
The day we got the diagnosis, we were utterly devastated.
How could this happen to us, to our baby? How could it possibly be that we both
had a ‘wonky’ gene that we had unknowingly passed down? How did we get here,
how did this happen? We were angry, we were upset, we were frightened. I didn’t
want to talk to anyone other than my husband, I just wanted to curl up and cry.
I was terrified about the future, what was life going to look like, how would
we manage? My mind was full of questions that I wasn’t sure I wanted to know
the answers to. It wasn’t a great day.
That said I am so, so grateful that we do have a diagnosis.
It’s a relief to understand and to have an explanation. I’m most grateful that
a diagnosis has brought us an amazing global support network of families in the
same situation - Facebook has its uses! The advice, support and understanding
that comes from members of the group has been a huge part of accepting the
diagnosis. I love seeing how all the kids are getting on and its great to be
able to join in with celebrating their achievements.
Now 4, Holly is yet to walk independently. She walks using a
walking frame or holding an adults hand. She can climb up and down the stairs
and onto the sofa. She can feed herself with a spoon and for certain foods can
use a fork. Holly has a significant learning disability in that her comprehension
and social interaction is poor. She goes to a mainstream nursery which she
loves, but it is unlikely that she will go to mainstream school. Holly can’t yet
talk but is making increasing attempts to have her message understood; bringing
us a toy she wants to play with, a specific book to read or taking our hand to
lead us to the door if she wants to play outside. She isn’t toilet trained and
I’m finding it a bit overwhelming having the first clue of where to start with
that one! We are very grateful that so far she doesn’t show signs of any of the
more serious medical complications that go along with the syndrome and her
general health is excellent. She doesn’t have neutropenia and currently her
eyesight seems to be fine. We have 6 monthly reviews and I feel sick worrying about
if/when that will change.
So I suppose those are the facts, but I hate that on paper
it sounds so negative as that’s just not who she is! Holly is THE happiest
child. She loves being around other children, she loves swings, she loves being
outside and feeling the wind in her crazy curly hair. She loves rolling around
with her funny Daddy blowing raspberries and being tickled. She loves books. She
loves throwing balls. She loves windmills and anything that spins or lights up.
She loves cuddles. She smiles and laughs a lot. She brings us so much happiness
and joy that although having a child with additional needs isn’t what we
planned for, its hard to feel too sad for too long about anything to do with
Holly – we adore her.
To any new parents who have stumbled across Jamie’s blog
while frantically googling late at night I just want to reassure you. Please
don’t despair. Your parenting journey is going to be different to that of your
friends and sometimes life will seem very, very hard and scary. But then it
really does just become the ‘new normal’ and it really will be okay. Of course
be realistic about the challenges but try hard not to get bogged down in panic
thinking too far ahead. Tomorrow will happen no matter what and I completely
and honestly believe that all of our futures remain bright.
