Colbys

Family Story

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.  Colby needed a little bit of help to get started breathing on his own, but once he did, he seemed fine.

Following Colby’s delivery, our doctor removed several fibroid tumors from my uterus, so I was on the operating table for quite some time after the C-section. I did not actually gain full consciousness until about 12 hours after Colby was born, so my husband was left alone to deal with much more than we had anticipated that day. 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.

The tough news for us was still yet to come. The NICU doctor came into my room while Steven was at home feeding our animals, and he informed me that Colby had Noonan’s syndrome. He showed me photos from a book and told me that this was what Colby was going to look like and that he would have serious developmental delay. It turned out that this diagnosis ended up being wrong, but this doctor was convinced that this was what Colby had. When Steven arrived at the hospital to find me totally distraught, he went on a hunt for our doctor and very pointedly told him that he would never talk to me again without him in the room.

The reason Colby was diagnosed with Noonan’s syndrome was because he had wide-spaced nipples, low-set ears, undescended testes, a short, thick neck, poor muscle tone and a 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 Colby did not have Noonan’s syndrome. One of the most common characteristics for Noonan’s is short stature, and Colby continued to grow at a rapid pace and was soon at or above the 50th percentile for height. 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 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 is now 4 1/2, and he has said a few words, but he does not repeat them often and he does not usually remember them. The strange thing is that the words that he has said are difficult words that are not typically a child’s first words: words like purple, airplane, apron and grandpa. Since Colby was about 2 years old, we have been teaching him to sign using American Sign Language (ASL), and he has taken to that really well. He now knows over 90 signs and uses them to get what he wants or to identify things on a regular basis.

When we realized that Colby was continuing to experience significant developmental delays, we enrolled him in a program for children with special needs. The school is Kinderfrogs, and it is a lab school that is part of the school of education at Texas Christian University. He started there when he was 18 months, and it has been a blessing for us. The school has therapists who work with the children, and the teachers are specialists who know how to deal with children with special needs. Most of the children who attend have Down syndrome, and they do have some typically developing children who attend. Colby can attend that school until he is 6 and then we plan to mainstream him into our public school. He is already receiving speech therapy at the elementary school and is about to start physical therapy and occupational therapy there, as well.

We have been very fortunate that Colby has been a very healthy child for the past two years. He had numerous respiratory infections and a bad case of respiratory syncytial virus (RSV) when he was between the ages of 6 months and 2 years, but he has not had one since then. He has a seizure disorder and has had several mild seizures and one that landed him in the ICU when he was 2 years old. He has been on Trileptol since that seizure and has not had any seizure activity since then. Colby did require a surgical procedure to descend his testicles when he was 1 year old as they did not descend on their own.

One of our biggest struggles at this stage is Colby’s difficulty sleeping through the night. He is difficult to get to bed and tends to wake up in the middle of the night and not go back to sleep.  This all started when he was 3 1/2, and it has been a challenge to get him to get enough sleep to be able to handle his daily routine at his school and at home.

We finally got 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 to our quest for a diagnosis. When the results came back that Colby had a microdeletion on chromosome 17Q21.31 at 70Kb, we were shocked. Steven and I have a 2 1/2- year-old daughter who is typically developing, so we are both planning to be tested some time in 2008 to determine if either of us is a carrier.

It is comforting to have a diagnosis even though there is not much known about this microdeletion. All we have is hope and faith that we have been doing the best for Colby over these past several years and that he will continue to develop and impress us with his tenacity and perseverance. 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