Hi and thanks for inviting me to write a guest blog about
our journey with Cohen Syndrome.
Our first child Lucy was born in 2004. She was born full
term with a dislocated knee, it was this day that our lives changed forever.
Not only did we have this gorgeous baby who we fell in love with at first sight
but we also were overwhelmed with Doctors and specialists from day one. A
dislocated knee was rare so a Geneticist came in and started running tests on
our baby girl (some tests we didn’t even know about or give authority to do!).
Lucy’s knee recovered well and we started our life with Lucy hoping that there
wasn’t anything medically wrong with her like Doctor’s questioned early on.
At 12 months Lucy wasn’t sitting, crawling or walking so she
was referred to a Pediatrician and Physiotherapist where the years of therapy
began. I remember the pediatrician saying he had never seen such a floppy child
or any one like Lucy! There were so many sleepless nights and no answers after
she was poked and prodded for years. She had a number of MRI’s ,a muscle
biopsy, blood tests, urine tests you name it. She had hours and hours of
therapy which included physio, speech, Occupational Therapy etc. Lucy started
to crawl at 18 months and walked at 2. Some Doctors said she may never walk but
we never believed that and never game up. She started talking around 18 months
and was meeting her speech milestone at 2. At the age of 3 she had lost most of
her speech and even now at nearly 13 she doesn’t have much language at all.
When Lucy was nearly 3 her Sister Zoe arrived. There were no
issues with her birth or her joints however she was quite a floppy baby like
Lucy. She rolled early so we were thrilled that she didn’t have the same issues
as Lucy…well that’s what we thought. She crawled at 15 months and walked after
she was 2. She had problems with her feet turning in so once we had orthotics
for her she walked. Zoe talked at all the right stages although quite delayed
so she received the same kind of therapy as Lucy.
When Lucy was nearly 7 she was diagnosed with Autism. We
were upset of course but at the same time happy that we finally had a diagnosis
after years of tests. The Geneticist always believed there was something else going
on with our girls and conducted more tests every year. Every year the tests
came back with nothing until 2015. The Geneticist advised that there was new testing
available in America and thought we could get Lucy tested for a number of
different chromosome/gene abnormalities. About 6 weeks later the Geneticist called
to say that Lucy had Cohen Syndrome… my ex Husband and I then had to go and
have blood tests to confirm we were both carriers. We also had Zoe tested. All
of the tests came back positive. The Geneticist said it was very rare and
nothing major to worry about??!! Of course Google became my best friend and I
spent ages looking for more information about the syndrome. I was disappointed
that there wasn’t much information anywhere about it but then I searched on Facebook
and found the Cohen Syndrome page and I have learnt so much from all of you
it’s been amazing! Our children look so similar!!! Lucy especially seems to
look like a lot of other girls with Cohens.
What scared me the most with the diagnosis was the problems
with eye sight. Zoe had only recently been diagnosed with a turning in eye and
was wearing glasses. Once we received the diagnosis for her she then had more
tests done and unfortunately she has the retina issue and is now classed as
legally blind. I felt terrible not knowing how bad her eye sight was. I just
put her clumsiness down to the syndrome and her previous diagnosis of Global
Developmental Delay. I had no idea she couldn’t see well at all. This week we
met with the Royal Society for the Blind. They are going to help Zoe at school
with enlarged print as well as other things to assist in her Education. Lucy
has had her eyes tested and at this stage there is nothing wrong with her
eyes…phew!
Both my girls can do a lot for themselves now. A few years
ago Lucy couldn’t open a packet of biscuits or chips or take a lid off a container
but now she can peel an orange, open lids (like yoghurt containers and put it
everywhere!) but I am just thankful that she tries. Lucy is nonverbal but uses
her a little iPad with Proloqo2go which is a communication application. She is
amazing on the iPad using this app to tell us what she wants. She spends a lot
of her time on an iPad and when she isn’t playing with that she is eating (eats
like a horse) and loves round things. She loves balls, coins, beads…anything colorful
and round!! Zoe is nearly 10 and verbal, she chats a lot and is not at the same
stage as Lucy in regards to fine and gross motor ability but is improving all
the time. She loves animals, she loves going to the Zoo and the farm. She tells
her class mates on Mondays that she has been on a farm on the weekend and most
of the time this doesn’t occur but at least she is using her imagination! Zoe
also loves building things with Lego and any kind of colorful blocks! She does
love her iPad too.
I believe my children
can do so much, yes they will need ongoing therapy and help but I find that my
girls amaze me with how much they improve and the things they just pick up.
Lucy has a phenomenal memory. She can remember where I hid something a year
ago!! Sometimes I wish she could talk so I can ask her where I have put some of
my things! Both Lucy and Zoe are not toilet trained but Lucy is almost there.
I’m crossing my fingers that by the next summer she just gets it. We have
literally tried everything in regards to toilet training but nothing has
worked. If anyone has any tips I would really appreciate it!!
My biggest advice would be to try and be assertive with
Doctors and therapists. I know this is hard at times and a lot of the time you may
think the Doctors are right but sometimes they are not (nothing against Doctors
at all they are amazing) but only you know your child! Ask questions, ask for
tests, ask for what you think your child would benefit from. The other thing is
to ask about what financial help you are entitled to. You don’t know what you
don’t know!! I found out when Lucy was around 3 years of age that I could get a
Carer allowance. I had never heard of it and it was Lucy’s physiotherapist that
mentioned it to me. Lucy was diagnosed too late to receive any funding for
Autism but now in Australia we have the National Disability Insurance Scheme
(NDIS) which has just been approved for Zoe, now to have it all done for Lucy!
This will help with the costs of therapy, nappies etc.
I would be happy to help with anything at all or to answer
any questions you have about my girls or any information I have shared. (sarah.armour@internode.on.net) I think
we can all learn so much from each other and I can’t wait to meet other Cohen’s
families at the next conference…starting to save my pennies!!
Sarah, Lucy and Zoe.
