Research | Community | Cure
Everyone has a story to tell, here's some of ours. Whether diagnosed early or diagnosed decades later, each KBG story is as unique as their fingerprints (yes, we do have fingerprints).
Section) in Ottawa, Ontario, Canada on May 2, 2014 at 6 pounds and 11 ounces and 19.25 inches. She had a little jaundice and was not eating much. In Ontario, every child born receives a first hearing test. The technician had difficulties with her right ear. We stayed 2 days in the hospital and went home with our beautiful daughter. She got into a routine very fast but she didn’t enjoy being rocked.
It took Chloé 3 weeks to get back her birth weight and for her jaundice to be resolved. Her pediatrician, Dr. Andre Engel, monitored her closely with her weight, her jaundice and her birthmark on top of her head. We also noticed her head was asymmetric and a referral was sent to the Children Hospital of Eastern Ontario (CHEO). We met with the neurosurgeon who reassured us that her head was going to be okay but that her fontanel would close when she would be around 16-18 months old.
At 4 months, CHEO administered again the hearing screening examination and they had the same difficulties with her right ear. It is only at 6 months that Chloé started to hold her head by herself. Looking back, we now know this was the first sign that her motor skills would be delayed.
Luckily, Dr. Engel monitored Chloé very closely and at 12 months, when she could not sit on her own, could not lift her body nor crawl, and could not eat solid food, the alarm went off and our family life changed forever. CHEO took charge of her assessment and Dr. Radha Jetty performed her first evaluation in August 2015, Chloé was 15 months. The assessment results were devastating: Chloé was behind in her gross motor skills of about one year and her communication skills were behind of about 6-8 months. She was still eating only purees because of her gag reflex and therefore she was very small (third percentile). We were very worried about her future. Thankfully, Dr. Jetty was reassuring and gathered every specialist required to assess and help Chloé in her development.
We were registered for the Comprehensive OT Feeding Program at CHEO where we had 5 group lessons to learn how to help Chloé gain weight and get into eating solid food. It worked as Chloé went from a third percentile to the fifth percentile within 3 months. Chloé also started to work with a private sector OT, a private sector physio and a private sector speech-language therapist. The public sector was too slow to respond quickly to Chloé’s challenges. These 3 therapists were amazing and were able to work with Chloé for months in order to get her from a “butt crawling” position (milestone achieved at 15 month) to walking by herself (achieved at 23 months). She was able to eat solid food at 24.5 month. These 2 milestones were a blessing and to this date, we still watch Chloé run and eat with a big smile on our face and tears in our eyes as we know the struggles she faced, the hard work she put in and the amazing journey she had to achieve the impossible. Chloé is now 3.5 year old and she can make complete sentences, speaks fluently French and she is learning English and Spanish at daycare. There are a few elements that need to be reprogrammed but she is able to tell her day or explain one of her many theories. She does well at daycare and she likes to play with her friends and take care of others.
Chloé went through several assessments and tests. She has a very low knee and ankle reflex and her neurologist, Dr. Sunita Venkateswaran requested a MRI (brain and spine) and an EMG. In August 2016, everything came back normal but everyone wanted to know why Chloé had all these challenges.
A genetic consultation was requested by Dr. Jetty which they tested Chloé for Fragile X, myotonic dystrophy and chromosome microarray studies. They all came back normal in decembre 2015. It is only in June 2017 with Dr. Melissa Carter that Chloé was tested for multiple genetic markers. And on October 10, 2017, we finally got the result and the answer: KBG Syndrome. This answer explained every delay Chloé had since birth. And it came with even more questions about her future. She is considered to be a mild case of KBG but we are trying to help her get ready for kindergarten in 2 years (we live in Gatineau, Québec, Canada and the kids start kindergarten at 5 years old).
Another ongoing concern is the liquid in her right ear. Since birth, Chloé had this liquid in her right ear. She never had an ear infection but the audiologist did confirm it was creating a problem with her hearing ability. We are waiting to see an ENT specialist.
Throughout all these challenges, our family grew stronger with Félix, Chloé’s big brother, helping out with her therapy, protecting her at daycare and encouraging her to keep going. He showed us he can be a strong little man with a positive attitude, a caring heart and a great big brother. Our beautiful daughter Chloé is a fighter with a great inner strength, a gentle soul, a big heart and amazing perseverance. She is our superhero!!!!! Can’t wait to see her grow into a wonderful woman!!!!
by C-section (my first labour was also by C-
Diagnosed October 2017
I would like to introduce to you my beautiful daughter, Chloé. My pregnancy with Chloé became at risk at 20 weeks when we found out she had a one vessel umbilical cord. This new information increased significantly our stress about the pregnancy and required a lot more follow-ups. At the end, the pregnancy was fine. She was smaller than my first child, Félix but was growing normally. Chloé was born