Get to know some other Cohen Syndrome families: Meet Holly

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.

Get to know some other Cohen Syndrome families: Meet Ollie

One of the great things that has come about from Eli's diagnosis is that I have been able to connect with people that I would never have spoken to in my life otherwise. I have had the privilege of building relationships with some pretty great people. One of those people is my next guest writer. Andi (Ollie's Mom) has been an amazing resource and friend to me over the last year plus. I am so thankful to have met her and to know that I have someone to go to with questions big or small, to seek advice about Eli, or just to have a shoulder to lean on when things get a bit rough around the edges.  Please read on to hear Andi's story about her wonderful son, Ollie:) 

Oliver David – our very wanted and prayed for baby.

Although I felt rather sick during my pregnancy, it seemed textbook. I blossomed and totally enjoyed feeling our little one growing and kicking inside me. In hindsight (after having a second baby without Cohen Syndrome), I realize that although Ollie was active, his movement was reduced. 

At 38 weeks after 'premature rupture of the membranes' and three failed inductions, 'Ollie' was delivered via emergency c-section due to being undiagnosed frank breech. He was 6lb 11oz and came out sobbing. The most heart wrenching, soft little sob. When I think of it seven years later, I still get a lump in my throat. All of the hospital staff in the room went, 'awww how sad', but alarm bells didn't ring for anyone – even when my husband and I said he sounded like a little kitten.

Apart from taking a while to get the knack of latching on and suffering from prolonged jaundice (never severe enough to warrant a stay under the lamps), Ollie thrived. He rolled over on time, albeit once, smiled, giggled, and sat up on time. He had the brightest eyes and we were often stopped by strangers saying how beautiful and alert our baby was. And he was. With a mass of thick blond curls and bright blue eyes, Ollie was (and still is) a stunning looking little man. He made eye contact, loved stories, loved food, loved his sleep and was so happy. I don't think Ollie cried more than a couple of times in his first year of life (apart from when I took him to 'Monkey Music' and he hated all of the raucous and chaos). My husband and I lacked humility and thought Ollie's wonderful nature was because we were such good, calm parents. And actually, we are good, calm parents. But we have also been blessed with a little boy with an amazingly sunny disposition. He is such a wonderful soul to parent.

When Ollie was 9 months old, our world started to get a bit shaky. The health visitors (we lived in the UK until Ollie was 4) were concerned that he wasn't bearing any weight. And so, from 9 months old we were in constant therapy, having constant tests, and in a state of MASSIVE denial (which we believe served us and Ollie well). Ollie was never late to do something in those early days but on the later side of 'normal'. We genuinely believed in Ollie's intelligence and still do. We fought hard to prove doctors wrong. Before Ollie was 2 his neurologist told us to look at wheelchairs as she said he would never walk or talk, and would most likely regress. I cried a river in front of her and said that she was wrong. 

Physiotherapy began at 9 months, speech therapy at 14 months, and we became manic researchers and advocates for our boy.

Ollie was tested for Prader-Willi Syndrome, Partial Agenesis of the Corpus Callosum and Fragile X Syndrome. We knew he didn't have these as they just didn't fit. In the meantime, we carried on with the therapy thinking he would grow out of whatever it was.

I became obsessed with finding out what was going on with Ollie when I was pregnant with our second child. I NEEDED to know and was unstoppable. Just after the birth of  Ollie's little brother (Ollie had just turned 5), during a frantic 'googling hour', I came across a picture of a little boy with Cohen Syndrome. He had a look of Ollie about him and when I read further my heart lurched – I knew then that Ollie had Cohen Syndrome. I immediately sent Ollie's pediatrician all of my research and he agreed. We saw a geneticist within the month and received a clinical diagnosis. Within a year, genetic tests confirmed that Ollie does have Cohen Syndrome and my husband and I are both carriers. 

Unfortunately, rod/cone dystrophy is part of Cohen Syndrome, which we quickly discovered after the initial diagnosis, and Ollie has been severely affected by this. He lost a lot of vision rapidly and now uses a cane a lot of the time. This breaks our hearts. It is absolutely the worst aspect of this syndrome. His learning needs can be catered for, his sensory needs can be indulged and regulated, but there is nothing we can do to help his vision and that, for us, is horrific.

BUT we find joy in Ollie and everything he has achieved. He is phenomenal and has defied the odds in so many ways.

He took his first steps 'aided' before his second birthday and walked, ran, and kicked a soccer ball independently all at 33 months.Ollie said a few isolated words at 2 (communicated in sign); now at 7 years old he does not stop talking. He is very clear and has a brilliant imagination.

He swims like a fish. He can read. He write's 'bff' (best friend forever) on notes to his friends. Ollie plays the drums. He goes to a mainstream school and gets invited to parties. He has a girlfriend (cuteness!). And, Ollie has the most amazing, sophisticated sense of humor. When we are around Ollie, it is impossible to be anything but happy.

Ollie has Cohen Syndrome, but he is not Cohen Syndrome. Ollie Walton is a 7-year-old boy from New Zealand. He is perfect.  

Please visit Andi's blog http://nocohenback.blogspot.com/  if you would like to check out more great stories about amazing little Ollie. 

Get to know some other Cohen Syndrome families: Meet Lucy and Zoe

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.

Get to know some other Cohen Syndrome families: Meet Andy Bob

When we first got Eli's diagnosis of Cohen Syndrome, One of my first concerns was if it would affect his lifespan or not. Its so rare that I couldn't find much online during all my searching. I was anxious...I wanted to connect badly with anyone who had an older child with the same syndrome. I needed to see that everything was going to be okay for Eli down the road. Jan was one of the first parents I got to connect with who had an adult son with Cohen Syndrome. It was so great to be able to see a bit into her daily life with her son, Andy. 

She has been kind enough to share a bit of her story below: 

(Andy is on the right)

We took Andy into the pediatrician's office when he was a year old because he couldn't sit up by himself.  He was a VERY good baby and content to just sit and watch his very active older sister.  The doctor measured his head and said he didn't like the size.  I wasn't sure what that meant.  He made an appointment for us to go to the "Crippled Children's" building for an evaluation.  

(Remember this was in early 1977 and they didn't use "Politically Correct" language.)

When we went up there, my husband wouldn't go because he was afraid to find out anything bad or worried it would somehow reflect badly on him.  My mother-in-law went with me.

The first doctor asked some routine questions and then they took him away to be seen by different doctors and do blood work.

We anxiously waited for 4 hours!

 
The original doctor came back and I could tell Andy had been crying a lot!  He looked at both of us and said that after all the tests, they determined that Andy was "retarded".  That was it, right between the eyes!  He asked me what I was thinking right then and I got mad and said he couldn't be "retarded" because he was too cute!  He informed me that you don't have to be ugly to be "R". I was prepared for a muscle problem because he couldn't sit up, NOT this!

My husband didn't think the news was so bad but he just made me mad because he wouldn't even go with me to hear about it! We didn't find out about his eyes until he was 5 Y.O. We found out about Cohen's DX when he was in his 20'. The doctor at Casey Eye Institute was doing a genetics test and asked if they could test him.  They told us later about the results.

This entire time of almost 40 years has been about MY growth and my ability to accept things, NOT Andy Bob's.  He continues to take things in stride, almost never complains about his vision and is a very wonderful, funny and loving guy!  I couldn't love him more if I tried!

We get to have a "kid" forever in our home.  I still sing to him at bedtime, he loves Christmas, Santa, the Easter Bunny, etc.  He has a wonderful faith in God and doesn't have a mean bone in his body. He's been a big blessing to many people.

below is a poem written by Jan for her son: