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:

Get to know some other Cohen Syndrome families: Meet Clara

When I first discovered and started to learn about Cohen Syndrome...I spent MANY hours researching and searching the internet. One of the first things I found was a blog www.ajoyrenewed.blogspot.com  where I was able to really get my first glimpse of another child with Eli's same situation. I immediately reached out to the author, Brittnie. I had so many questions and just wanted someone to talk to.  She was the first person I ever connected with about Cohen Syndrome (which was a true lifesaver) her blog was something I was able to share with my family and friends who were trying to understand what this new diagnosis meant for Eli and for us...It was a true comfort during a very uncertain and scary time in my life. 

And here is Brittnie's story about her daughter Clara...(check out her awesome blog for more info on Cohen Syndrome and to read more about adorable little Clara!) 

Our sweet Clara was born to us in 2012, after undergoing treatment for an infertility diagnosis. We were ecstatic, over the moon, and completely in love with our little peanut. Weighing only 6 pounds 5 ounces at birth and only 5 pounds 14 ounces when we took her home, she was just that, our little peanut. 

Clara struggled to eat well as a newborn, and this trend continued on through infancy. She preferred not to sleep (more than a few hours at a time) and had colic. By four months of age, I began to notice that Clara's development lagged a bit behind other infants her age. By six months, the delay in milestones was even more clear. She was not sitting up, but more concerning was her lack of social interaction. She hardly locked eyes with us, and rarely smiled. It was as if she gazed through us.  

At her six month well check Clara's pediatrician agreed that these delays were a bit concerning, and it was time to contact early intervention. This set us on a roller coaster of investigation that, little did we know, would last twelve more months. We made an appointment with a well known neurologist, and started Clara in the local ECI program (early childhood intervention) and OT (occupational therapy). The neurologist gave Clara a quick diagnosis of Microcephaly (smaller than average head circumference), but knew there was more going on.

Between the age of six to nine months Clara had an extensive hearing test (ABR), brain MRI,  and several basic genetic tests (think lots of blood work - Chromosomal Microarray Analysis, Rett Syndrome and Fragile X Syndrome). From all of this, we learned that in addition to the Microcephaly, Clara is missing a portion of her 4th chromosome. This was not a concern, yet our neurologist had us speak with Texas Children's Hospital genetics department to get more information. The geneticists agreed that the missing portion of her 4th chromosome was not significant, yet they encouraged us to try one more extensive genetic test called a Whole Genome Sequencing. They claimed "this is the test that will give us an answer."

And it did.

After a five month wait on blood work, we received the diagnosis of Cohen Syndrome. Clara was 18 months old when we reviewed the diagnosis. 

As the geneticist read off the symptoms of Cohen Syndrome, it all just fit. It all made sense. We were overwhelmed, yet relieved. Stressed, but so thankful to have an answer. 

Clara sat unassisted at six months, crawled at 14 months, and walked at 23 months. She has never spoken a word, but is currently, at age 4 years, learning some alternative means of communication. She attends a full time therapy school for kids with Autism, and gets approximately 40 hours a week of ABA therapy. She also has one private speech therapy session a week. The ABA is proving highly effective for our girl. We wonder about Clara's level of cognitive functioning, as she does not follow basic directives, hardly responds to her name, etc. Clara struggles with sensory issues, so loud noises frighten her and daily activities such as brushing teeth are a challenge (an understatement). 

The challenges are many, and the road before us is certainly not smoothly paved, but I would be lying if I said I would change one thing about my girl. Of course we push her and challenge her and pray that she continues to meet milestones, but we firmly believe she is perfect, just as God made her. She has a smile as wide as Texas, a friendly disposition, and loves to giggle. She gives the world's best cuddles. She sparks joy just by entering a room. She is fearfully and wonderfully made. And she has made such progress over the years in most all areas of her little life. She is currently learning to relieve herself on the potty, a skill I never knew would even be possible for Clara. 

I consider it a privilege and honor to parent this amazing child. It is not uncommon for people to say, "Clara is so blessed to have you as her mommy." To which I reply, "Oh no, no, I am the blessed one." 

Brittnie 

Get to know some other Cohen Syndrome families: Meet Danny

I thought it would nice for everyone stopping by to get to read a little bit about some other families with kids, teens or even adults who have Cohen Syndrome. I am going to be doing a little series where I have invited parents to introduce and write about their children here on my blog.  To be able to hear about some other journeys and paths and to see a little bit into the day to day life of other family's going through the same thing as we are is so cool and comforting. 

Thanks to everyone who offered to participate and hopefully this will help spread some awareness and provide guidance to someone who is searching for answers or a diagnosis!

Now, on to our very first little handsome guy....

Here to start us off....Meet Danny (Written by his mom, Michelle) 

Our son, Danny was adopted at birth weighing only 4 lb. 9 oz. even though he was full-term. He was a beautiful, long eye-lashed and smiling baby, who despite his low birth weight, passed his APGAR test, and was sent home with us less than 48 hours later (because his birth mom did not have insurance-law in the state of Nevada). When we arrived home to Wisconsin with Danny, our pediatrician directed us to feed Danny every 1.5 –2 hours, and to wake him after 3 to eat if needed. He did not have a large appetite, and getting him to eat enough was our biggest challenge. Danny also had many frequent illnesses and was hospitalized at 6 months for RSV and 9 month for rotavirus. He was not sitting up at 6 months, but our pediatrician felt he was behind due to his prolonged illnesses and would catch up. At 10 months Danny could sit up, but he just couldn’t keep his balance like our other son and would topple over. We returned to our pediatrician, and she said she also had concerns there was more going on.

We were referred to a developmental pediatrician, who ran genetic testing which turned up nothing, and then gave us a diagnosis of Fetal Alcohol Syndrome.This explained Danny’s small stature and difficulty feeding, but did not really match his extremely sweet and happy disposition. He also advised us to have vision and hearing checked, which was such a blessing. We learned that Danny was extremely near-sighted and got him glasses at 13 months old. Car rides used to be stressful, as riding in the car was the only time Danny would cry. After he got his glasses, he never cried in the car again (we think because he could see what was passing him by). We later learned he had peripheral field loss, which caused him to frequently run into objects and frequent falls.

 Danny wore braces on his legs called AFO’s, due to high tone and being unable to walk – it is an understatement to say he didn’t like them, and he became very skilled at wriggling out of them! They helped him immensely, and broke up the high tone pattern throughout his body (arching) and he started walking at 26 months. He moved to small orthotics in his shoes to support his ankles, which he still wears today. He started receiving Birth-to- three services with O.T. and P.T. at about 15 months old.

Danny was a very happy baby and seldom cried unless he was sick – that is how we would know he wasn’t feeling well. He had many ear infections and colds that would move to his lungs after having RSV. We tried everything we knew to boost his immunity and keep him healthy (nutrition, chiropractic, therapy, and consulting with our pediatrician). Ear infections, frequent diarrhea and colds were quite a problem for a number of years (Danny has had 7 sets of ear tubes and his adenoids removed to help with the ear infections). My husband is a chiropractor and can often help with ear infections in kiddos, so this was especially hard for us.

At 4 years of age our pediatrician recommended we see an endocrinologist due to Danny’s small size and lack of appetite. We started him on growth hormone and he grew from wearing a size 18 month clothing to 3T within the first year. He started eating much better, and gained muscle as well. He still takes a daily injection of growth hormone at 13 y.o. Getting him to eat a variety and enough foods was our biggest challenge in the first four years (he limited himself to only crunchy textured foods and water, and refused formula or milk from 9 months on).

Around 6 Danny began getting frequent canker sores, and they were debilitating. They were huge, painful and would last 7-10 days during which he would miss school. He got 3-5/month and did not each much or allow us to brush his teeth when he had them. This started another cycle of doctoring to try to help him. 

At age 11 we went to a new developmental pediatrician who again referred us for genetic testing. The initial testing did not turn anything up, and our insurance company denied the expensive next step of genetic genome testing. At a follow-up appointment with the geneticist, we learned the possibility of Danny having Cohen Syndrome. Our geneticist brought in a more experienced geneticist to lay eyes on Danny. She had diagnosed two other young adults with Cohen Syndrome, and after learning Danny got frequent canker sores and had a low white blood count, she asked us if he was really friendly? I told her I had nicknamed him Mr. Friendly, and she told me she suspected Cohen Syndrome. The only question I asked was about life expectancy, which she said was normal if the white blood count/infections were controlled. I will never forget that drive home, calling my husband and having him drop everything at work to Google Cohen Syndrome. When we read the description and saw the pictures of kids with Cohen Syndrome, we knew we had found a match for Danny. Our insurance company did agree to pay for genome testing for just Cohen Syndrome and his diagnosis was confirmed “Cohen Syndrome exacerbated by Fetal Alcohol Syndrome”.

As hard as it is to learn that your child has a syndrome, it was also a relief. It opened up doors of understanding and most importantly a Facebook group for Parents of a Child with Cohen Syndrome. The connections and support through this group have been amazing. We also attended the Cohen Syndrome Conference in Ohio in June of 2016 and it was such a delight to meet other kids/adults with Cohen Syndrome. They truly are the sweetest beings. Prior to that we were able to meet Eli and his parents, and I cannot even explain how amazing it was to meet another Cohen’s kid – we could instantly see his sweetness, just like Danny.

Danny is now taking Neupogen which helps to boost the white blood count and specifically the neutrophils in the white blood count. We also started him on essential oils for boosting white blood counts (about 1 year prior to his diagnosis), and they got his WBC into the bottom of the normal range. I became passionate about essential oils after the benefits we saw with Danny, and now teach classes to help others use essential oils safely and effectively. The Neupogen has also helped increase his neutrophils. Danny has been much healthier, and has only gotten 3 canker sores in the last year! He missed 3 days of school last year compared to the typical 6 weeks!!

Danny is verbal, and began speaking about 6 y.o. Previously, he used PECS, 

sign language and an augmentative communication device. He has a very soft voice and is considered “understandable to familiar listeners.” When he would cry waking up from a nap, company would ask how I knew he was awake. I would say, “I heard him cry on the monitor”, but they never heard his quiet cry. We started him on a “real food” diet about 1 year ago, and his speech has exploded. Our reason for the diet is to prevent the obesity that can come with Cohen Syndrome, but we have had the added benefit of increased speech.

Danny is incredibly social, and has many friends. At school they tell us kids fight over whose turn it is to help him. He participates in many sports such as Special Olympics, Challenger Baseball and Adaptive downhill skiing. He is always happy, unless he isn’t feeling well. He is also very compassionate and will try to comfort anyone who looks sad. He is also a hugger and will hug anyone he sees over shaking their hand.

It is so difficult to describe Danny; he truly is such a special and sweet little boy. 

We learned at the Cohen Conference that we are the only “known” people to adopt a Cohen’s child. I don’t know how we got so lucky to be the parents of such a special boy, but we sure do feel lucky!

Hugs – Michelle Caron