Born 8/10/2012

Our son Cooper has been diagnosed with Mosaic Cri du Chat syndrome recently, he’s 19 months old.

So far he has no major symptoms other than delays in hitting his milestones; he sat up at 8.5 months, crawled at 14.5 months, and is pulling to stand and cruising now but not walking or standing without holding on to something for support yet.

He doesn’t say anything other than ‘ta’ for thank you, and ‘Adder’ for our dog Baxter.  He has glue ear and is being referred to an ear nose and throat specialist and may have grommets fitted in the near future, and he suffers from constipation.

We’re early on in our journey so still have much to learn about Cooper’s condition, we don’t yet know an exact percentage of cells showing the deletion or the size of the deletion, but it’s thought to be around 50-80% of cells affected.  We’re awaiting more detailed blood results.

He is very happy, always laughing, crawls at 100mph, seems to understand every word I say (can go and get a specific toy I ask for, loves certain TV shows, dances to music, likes being read too etc so is not too dissimilar to any other toddler of his age).

We are hoping the affects are mild but know virtually nothing about mosaic-ism and would love to hear from other parents or people with a mosaic diagnosis.

When Alyssa was first diagnosed with cri-du-chat I thought my life was over. And it was, because raising Alyssa I have found that I have to enter her world and adapt mine to hers. Her world has opened up a whole new outlook on life. For a non-verbal child, I never would have thought she  could be so full of personality and have such a rich sense of humor. A day doesn’t go by that we don’t meet new friends and through our encounters have restored faith in humanity. When I can let go of my worries of how people are going to respond to her and just let her be her,  joy usually follows. My view of how life was supposed to be is nothing like what it has become. A life of my own selfish desires has become a life of purpose that experiences  joy in watching a happy, persistent child who has severe challenges to overcome the most simple tasks we take for granted everyday. With joy, also comes times of frustration, exhaustion, and disappointments. The Five p minus society and all the amazing families  is a much needed resource for such times. The support and friendships that have come from a missing chromosome are like no other. As I age, I have come to appreciate how my life changed from seeing the world to seeing her world and maybe that was what life was meant to experience.

This is Nathan. He is a sweet and cuddly boy who has completely captured our hearts.

We knew shortly after he was born that something wasn’t right. He wasn’t doing normal baby things like breathing and eating on his own. He was whisked away to the NICU. As the hours, days, and weeks unfolded we learned about medical abnormalities affecting his brain, spine, heart, and kidneys. At two weeks old we had the official diagnosis of Cri du chat Syndrome. We were devastated as this was not the life we were envisioning for our son.

Although we face many difficulties, his life is not a burden, it is beautiful.

Over the last few years Nathan has become our teacher. He is continually teaching us about unconditional love and patience. He has proven his worth, not by what he accomplishes, but by being present in our lives. It is a joy to know him.

His favorite things are listening to music, being outside, balls that rattle and shake, toys that spin, dolls with big eyes, and his big brother. Nathan eats primarily with a feeding tube, walks short distances with the help of a walker, and his (favorite) words are “mama,” “more,” “bite,” “go”, and “bye-bye.”

It’s incredible to us that someone who is nonverbal is able to get his point across rather effectively with use of his body language, eye contact, and adapted sign language. Even though he can’t talk, he has the best sense of humor.

Our life is beautiful and I do believe with my heart that Nathan is a gift from God, true to the meaning of the name Nathan.

To read about the beginning of Nathan’s diagnosis and a bunch of practical information we learned along the way, check out Beauty in Broken Dreams: A Hopeful Handbook for the Early Years as a Special Needs Parent.

Follow our journey living with Cri du chat Syndrome at kathymcclelland.com.

Hi! My name is Rachel and I have Cri Du Chat but there is something rare and special about me, I am a mosaic which means a percentage of my cells are affected with Cri Du Chat but not all of them are affected so about 30% of my blood cells are affected.  I have a large deletion at 13.1 so I am missing 90% of my 5P arm but I am consider to be mild.

My birthday is 12th of December 1984. I was born in Wellington, New Zealand.  When I was born I had the cry but the doctors didn’t pick up on the fact that I had Cri Du Chat until I was 2 in a half.   The reason why I got tested for Cri Du Chat is because I had a small head and I wasn’t talking a lot.   I had speech therapy to help but it wasn’t until I started school that I learnt how to read my speech developed quickly.

My childhood was awesome because I was involved in what my family was doing like going sailing, fishing, camping, bike riding, hiking through the bush, girl guides  skiing until I gave up when I was 13 because my hips started hurting.  I was included in everything that my family did and there were times that if something didn’t work for me we would adjust it slightly to where I was included.

How Cri Du Chat affects me is that sometimes I have difficulty talking especially if I can’t pronounce a word or being understood clearly.  I have difficulty verbally expressing myself.  I have mild hip dysplasia which means when I walk, I walk with a limp because my right hip turns inwards.  I don’t like crowds because I get sensory overdrive which means that my brain can’t keep up with my senses and that I get a headache because my brain is trying to get rid of all the excess sensory that I don’t need or even want.  I get tried really quickly and easily also.  Having sensory overdrive is like the worse feeling ever and to combat it so if I am out walking I listen to my music because it takes out some of the sensory all around me and if I am at a restaurant I have my gameboy or my iphone or my kindle and I just play a game or just read.

In July of this year I have been living in my own house for 5 years independently away from my parents.  My Dad brought a house for me and so he is my landlord.  I have a ginger and white cat called Fanta who is afraid of strangers and my family but she loves my boyfriend of nine years.

In 2014 my Mum and I went to a conference in America and such had an amazing time at the conference and at the conference I was awarded Cri Du Chat Superhero of the Year for 2014 for all the work that I do on Facebook.  I reach out to new parents and tell them my story and give them advice and give them hope for their child’s future.

I have started very recently at the Red Cross Bookshop on Tuesday mornings I work from 10- 12.  The Red Cross Bookshop is a second hand bookshop where members of the public donate their books to us and we sell them.  I have been also going to the gym 4 mornings a week to help build up my  strength, my balance, to help make me stronger.

I write some amazing quotes and this is the first quote that I wrote:

I am a daughter, sister, person living with a disability, an aunt, a friend, a granddaughter, a niece, a girlfriend, an inspiration, a role model, an adult, was named Cri Du Chat superhero of the year for 2014, I am a cook and a member of society, a cousin, a volunteer, I am a well respected member of the Cri Du Chat community and a light in this world, a fur mama to Fanta. I am all of these things and so much more. I have CRI DU CHAT SYNDROME!!!

They said she’d never walk . . . she did; they said she’d never talk . . . she does; they said she’d never learn . . . she learns every day — and she even teaches; they said she’d never function in Society. . . . she’s one of the most social ladies you could meet; they said she will never be able to take care of herself . . . well she dresses herself, grooms herself, showers herself (okay prompting on this one); She can also let herself in with her own key to the house and can call me on her cell phone. So what has me writing this today . . . Katie came out of her room with an earring on (she only has one hole because the other one closed up) — she put it on herself, with no help. I’m so proud of her and she still amazes me every day.

My Name is Sara Borrello, I am 10 years old.  My birthday is July 27^th and at 8 months I was diagnosed with Cri Du Chat Syndrome. I live with my Mommy (Rosanna) and Daddy (Luigi) and I also have a Dog name Nikko. I spend lots of time with my grandparents, we cook and bake together.  I love to run, jump and play outside. I also taught myself how to swim.  I’m learning how to read and write. Most important I love to be around my family

Here are some things I would have liked to know when I found out my child had a 5p deletion:

Scott was born in 2003, 3 1/2 weeks before his due date because the doctors wanted him to be delivered because they believed he was IUGR. He was 4 pounds 2 ounces and we called him our little alien baby. We did not discover he had a chromosome deletion until he was almost 1. His pediatrician noticed high nipples which can be a sign of a chromosome anomaly and sent us for a DNA test. Scott has a deletion at 5p15.3.  We (his parents) were also tested and our chromosomes are all intact. The first geneticist we were referred to believed Scott had Russell Silver Syndrome but this proved wrong as Scott grew.

As a baby Scott was horrible at eating and sleeping.  I am not sure how we survived that first year with no sleep. To this day I occasionally give Scott Melatonin to help him fall asleep but he is much better now that he is older. He still wakes up with the sun though, no matter what time he goes to bed. As a baby his weight gain was so slow that the doctors said he had failure to thrive and sent us to a nutritionist.  I breast fed him for 11 months but he didn’t want to do it anymore so I stopped. When I nursed him he had tummy aches all the time and I stopped eating dairy which helped. He wasn’t good at eating solids either. He would chipmunk the food in his cheeks because he didn’t want to swallow.  We tried adding calories to his food to help with weight but that didn’t work. He was even prescribed a medicine that was supposed to increase his appetite but that didn’t work either and I would not recommend that to others. At age 13 he is still petite and very thin and shorter than kids his age but there is no worry that he isn’t eating enough. He is a much better eater now!  We have 5 children (Scott is the oldest) and he is currently one of our best eaters.

Scott was fully potty trained at age 5 but still had difficulty passing stool. He would hold it in for days. I gave him Miralax when he was really bad and that helped.  It still takes him a long time to go poop but he will grab a Where’s Waldo book and go sit for a while. Sometimes it takes him several “tries” to finally get it out. So the good news is that he did get potty trained and it’s something we don’t fight about anymore. At age 13 he still occasionally wets the bed but I have him sleep on a medical grade bed mat that we can easily wash if he does wet the bed.

Scott had low muscle tone and didn’t walk until after 18 months. He also had torticollis as a baby and we had to do neck exercises and I also had to brush his body with a baby brush so he would not be so sensitive to touch. Scott has tactile defensiveness and is extremely picky on what clothes he will wear and constantly wears a sweater which I have to force him to take off even if it is very hot outside. He HATES to be barefoot or to get his hands wet. He avoids washing his hands because he does not like the way they feel when they dry. He also does not like his body to be touched if it is straight on his skin.

He didn’t speak much of anything until he was 3 to 4 years old. We had intervention with the county at age 2 and at age 3 he started the school districts rocket program and that helped his speech a lot. He still does not have the best articulation but it is much better than it used to be. There are only a few sounds he still can’t do like the “r”. He still receives speech at school.  His receptive language has always been much better than his expressive language. We did sign language when he was 2 and 3 until he started using words.

At school he is in special day classes (special ed) and goes to science and P.E. with a general ed class. I held him back in 3rd grade hoping it would give him more time to get some basics learned. I do not regret holding him back. The hardest thing academically for Scott is reading. He is 13 and reads at a 2nd grade level. I do hooked on phonics with him every day and wish I had started that when he was younger. He gets very emotional when he reads because it is difficult and he gets frustrated. His short term memory is not good. You can teach him something and five minutes later he doesn’t know it anymore. He has to have a lot of repetition to get it to his long term memory. He does though seem to have a great memory about some things, like if we drove somewhere. When he was very young he would cry when he realized we were driving to a doctor or if he thought he was going to a certain destination and we drove a different route. At school when they do the triannual IEP his evalutions show that he has some mental retardation. When I was younger I used to use the phrase “that’s so retarded” – I never use that phrase anymore and it makes me sad when I hear others say it but I understand that people don’t realize the hurt a parent feels when they hear people speak lightly of retardation. We do wonder how far Scott will be able to progress academically but we just keep moving forward and pushing him to do the best he can!  When it comes to school services and doctors, we have learned that you must be informed and advocate for your child.

Scott was sent to a lot of doctors in his early years but we don’t see any of them anymore. He saw a cardiologist because he had a small hole in his heart but it closed when he was young. He saw a head doctor because they thought his head was shaped odd but that didn’t need any treatment and now his head is fine. He saw nutritionists, gastroenterologists, geneticists, etc. but now we just have yearly pediatric appointments and make sure we get good measurements to track his growth curve. Health wise Scott is healthy but gets frequent runny noses, wears a hearing aid in one ear due to many ear infections as a baby (he never got tubes and I regret not making the doctor give him tubes), and he is very slightly near sighted but does not wear glasses currently. He has a foot that angles in slightly when he walks but it isn’t very noticeable to others.  He used to get a lot of cavities but after his permanent teeth came in he has only had a few. He can brush his teeth but I don’t think he does it thoroughly so every other day I brush and floss his teeth to make sure it gets done properly.

Scott does have a high voice and as a baby he had a high cry. He asked me the other day if his voice will ever get lower, I feel bad for him because I don’t know how to answer. I am guessing he will always have a higher pitched voice than boys his age. He speaks very softly at school but at home his voice level is average.

Scott has tried tee ball, basketball and soccer and did not like any of them even though I think he would do well if he wanted to. He has enjoyed horse lessons when I make him do it. He can do his household chores but he is not too concerned with doing them well, he just wants to get it over with. Having siblings (he has 4) has been very good for Scotty. His siblings are his friends, keep him company when he is scared, teach him responsibility (Scott and his younger brother baby sit the others for short periods of time) and have helped push him to do more. We have spoken very openly and honestly with all the kids about Scott’s limitations because it comes up when they do homework together and Scotty’s little brother and sister are doing harder work than he is. Scott gets extra iPad time when he does hooked on phonics and when his siblings say that it is unfair, I remind them that they would much rather have reading come easily for them than to have extra iPad time.

Scott likes to please people and make his teachers happy. At school he is a very well behaved student and has never caused problems. He has a cheerful disposition and is sensitive. At one elementary school he was teased and picked on so we moved schools and no longer have that problem. I do worry about him getting picked on as he enters Intermediate School this upcoming school year.

Scott loves being around other kids his age that are “normal” but he doesn’t always know how to behave age appropriate. If someone comes up and says “hey Scott what’s up?” Scott doesn’t know what to say and is not comfortable looking into people’s eyes when he talks. I think he still feels unsure of himself because he has had speech problems for so many years. But he loves to tease and goof around like any other boy. He is in Boy Scouts and loves to do camp outs and be outside. He always has a lizard or insect in a jar that he observes. He doesn’t have the best attention span but when it comes to finding insects he has an awesome attention span. He will do it for hours. He is also very fond of his blanket and would probably run into a burning building to get his blanket out. He loves to ride his motorcycle which surprised us. He learned to ride a bike when he was 4. RV’s are another obsession of Scotty. He has pictures of them on his wall and will sometimes bring a camera in the car and take pictures of them as we drive by.

We love our Scotty boy and he has taught us a lot. He is not an easy child and is a lot of work but it’s okay! When he is frustrated I remind him that this is the body he was given and he has to deal with it but he will be a stronger person because of it. We remind him that someday (when we are resurrected) he will have a perfect body and you should see the smile on his face when we tell him that! Their spirits are perfect, it’s just a physical limitation here on earth!

Born: Full term, weighing 7 lbs. 2 oz.

Diagnosis:  9 days old

Rolled over:  2 months old

Started therapy (OT PT and speech):  3 months old

First Words: 16 months old

First Steps:  23 months old

Walked all over:  2 years, 4 months.

Toilet Trained (mostly) – 8 years old

Taylor is the oldest of 4 children.  She loves to tease her brothers, listen to music, dance and swim.  She also loves having family movie nights.

Lessons from my daughter is a blog about our journey!

Emily was diagnosed at 15 months, we missed on many months of therapies but in the end, we gained an understanding of her and how far we could push her.

I write about Emily’s success

I talk about the day the genetic counselors told us that she would never walk, talk, recognize us, show emotions, learn to eat…  She can do all of those things.

I don’t believe my writing will ever do Emily justice.

I don’t dwell on things I can’t control but won’t shy away from telling you about them!

The hair and nail pulling, my back pain, sleepless nights, completely scary amount of vomiting, surgeries, hospital stays, getting slapped, pushed, kicked or hit, biting, teeth grinding, my concussion, my TMJ, school meetings, tutoring, various therapies, sign language classes, PECS system, psychologist assessment, doctors appointments, vacation days spent at the hospital, schedule juggling and financially broke…. Just to name a few…

This journey we are on is not an easy one.

But the thing is, I can’t live a life where those moments define me and my outlook on life.

I chose to be happy!

I chose to be inspired by Emily!

I chose the smiles, laugh, cuddles…

I chose to see that Emily can help with small tasks around the house, I chose to see that she is happy in school and continues to learn.

I chose to sing my head off with her in the car and watch whatever it is she wants to watch on tv.

I love that she understands two languages and understands empathy and other complex emotions.

I love how stubborn she is!  Her determination is admirable.

I love how patient she is!  She will continue to explain herself until she’s understood..

I love how fearless she is.

I love watching her cheer, play baseball, ride horses, sail, shop,drink tea, bowl, …

I love how much she loves me!!!

To be Emily’s mom is the hardest most amazing thing I have ever done.

My girl has cri du chat syndrome but it doesn’t define her!

She defines it and she is awesome!

I hope you will stop by my blog and look around!

Pascale