Colby was delivered one week before our scheduled C-section due to our doctor’s concerns over his lack of major movements during one of our routine checkups. Colby was in the breech position, so we had planned a C-section delivery for two weeks before his actual due date. Colby was born August 13, 2003, weighing 6 pounds, 4 ounces and measuring 19 1/4 inches.

Young boy with Koolen-de Vries Syndrome holding baseball glove

Colby needed a little bit of help to get started breathing on his own, but once he did, he seemed fine. After Colby was brought into the nursery and examined by a doctor, it was determined that he had poor muscle tone and that he would not suck on his bottle, so they decided to move him into the Neonatal Intensive Care Unit. The doctor in the NICU noticed some facial and anatomical features that were considered abnormal, so he contacted a geneticist to come see Colby. Colby had several problems arise while he was in the NICU. He had difficulty maintaining a normal blood sugar level, failed to thrive and he also had very severe reflux. None of these problems seemed serious to us as there were so many other babies in the NICU who seemed to be far worse off than Colby.

After a visit from the geneticist and some time in the NICU, we were told that Colby most likely had Noonan’s syndrome because he had wide-spaced nipples, low-set ears, undescended testes, a short and thick neck, poor muscle tone and failure to thrive. The doctors also did a chest X-ray that showed possible pulmonary stenosis, which is common for that syndrome. It was later determined after numerous visits to the cardiologist that he did not have this condition. We continued to see a geneticist on a yearly basis, and by the time Colby was 2, it had become pretty evident that he did not have Noonan’s syndrome. Although it seemed to be a relief to find out that Colby did not have Noonan’s syndrome, we were still left without a diagnosis. We continued to subject Colby to numerous tests for other genetic disorders that were ordered by his team of doctors, and each time, we came away without any answers.

As an infant and toddler, Colby was delayed in all areas of development. He would usually stay just barely within the normal range for typically developing children, so we continued to hope that he would eventually catch up. He crawled at 10 months and walked at 18 months. Our biggest concern was his speech delay. Colby did not babble or make any consonant sounds until he was 2 1/2 years old. He did not say his first word until he was 6 and after that he rarely repeated a word and he sounded out each letter, so he was difficult to understand. We began a more intensive speech therapy program when he was 9 and now at age 12 he is almost completely understandable and he talks in full sentences. He used a communication device in school until very recently. We were thrilled when his teacher called to ask if it was alright if he stopped bringing the Ipad to class because he no longer needed it. His speech development has come so far and he works very hard during his speech sessions to continue to improve.

Young boy with KdVS and red shirt and plaid shorts smiling

We have been very fortunate that Colby has been a fairly healthy child for the past several years. He had numerous respiratory infections and a bad case of respiratory syncytial virus (RSV) when he was younger, but his immune system seems to have strengthened significantly as he got older. He has seizure disorder and had several mild seizures as an infant and young toddler. He had one severe seizure that landed him in the ICU and was on Trileptol for several years with no seizure activity. The seizure medicine was discontinued last year and he has not had any seizure activity since coming off the medicine.

One of our biggest struggles behaviorally with Colby’s is his difficulty sleeping through the night. He is difficult to get to sleep and tends to wake up in the middle of the night and not go back to sleep. This started when he was 3 1/2, and it has been a continual challenge. We had him on melatonin for several years and we found a clock that lights up when it is time for him to wake up and that has worked really well. It took some time to get him trained to stay in his room until the clock lit up but he does follow the bedtime rules fairly well now that he is older.

We received the correct diagnosis for Colby in November 2007, when he was 4 years of age. His neurologist suggested we pursue the microarray test that his geneticist had told us about several times, and when we did, we discovered that our insurance would finally pay for it. We were not expecting to get a positive result because we had been down that road several times with no answers on our quest for a diagnosis. The results came back that Colby has a microdeletion on chromosome 17Q21.31 at 70Kb (Koolen-de Vries Syndrome or KdVS).

It is comforting to have a diagnosis even though there is still much that is unknown about this syndrome. We were very fortunate to get Colby into a great preschool program at an early age that offered the therapies and educational setting that he needed to get a jump start on his development. Colby has been in public school since kindergarten and has done very well. He is mainstreamed part of the day and is pulled out for therapy sessions and for time with his special needs teacher. He is now in 6th grade and reads at about a 4th grade level. Language is certainly his strongest class and he is a very good speller. He participated in the school spelling bee in 4th grade and made it through several rounds. The inclusion Colby receives at his school has been amazing; he has strong relationships with many of his classmates and they really look out for him. His nickname at school is the “Mayor of McAnally” and he is very proud of his title. He has such a charismatic personality and makes friends with everyone he meets. He is truly a blessing to his family and all who know him. We are very proud of the progress that Colby has made, and we look forward to what the future holds for him.

Submitted by: Steven & Patty-parents of Colby