Keifer

Age: 6 Years Old

Duplication: 4p16.3

Lives in: Victoria, BC, Canada. Originally from Winnipeg, MB, Canada.

Christmas Eve 2007, my now husband and I found out we were pregnant with my second child and his first. My pregnancy was an easy one, no complications, and we were told we were having a healthy baby girl. We were more than ready for our baby girl to make her appearance at the end of August. Much to our surprise and the first of many, the doctor congratulated us on the arrival of our son. He was whisked away by nurses, before I got to see him. My husband noticed there was something off about his face. We were told that he had a cleft lip, something neither of us knew anything about or had any experience with. But it was a world we learned quickly.

 Our first year, was by far our hardest, but the cleft lip was just the beginning. Keifer had a hernia that was repaired at 10 weeks. When Keifer was around 4 months, he got really sick, he had RSV. Our ER doctor noticed that he had a heart murmur after he was given an epi-mask, and sent a referral to cardiology for the next day. After a very long night in the ER and an excruciating wait while he had an echocardiogram, we were told he also had a heart defect, a coarctation of the aorta. We spent weeks in the hospital while they tried to get his blood pressure under control. They were worried he would have brain damage, but he amazingly didn't. His blood pressure was high enough that it would have killed an adult man. He had heart surgery at 6 months and his lip repair at 9 months. We were referred to genetics, but the tests they ran at that point were inconclusive.

The next few years were very quiet for us medically. He was growing, and his language was developing. A little slower than "normal" but he was progressing and we were being follow by a speech language pathologist, physiotherapy and occupational therapy.

In 2012, our pediatrician suggested we get genetic testing done again, as there had been many advances, he also suggested a microarray. Around the same time, it was suggested that we have Keifer tested for being on the autism spectrum. We got the results of the genetic testing and discovered that Keifer had Trisomy 4p, within weeks we also had an autism diagnosis. We also got a referral to nephrology, kidney specialists. He was weaned off his heart meds, but his blood pressure was still high. He was sent for an MRI, and they found narrowing in his kidneys, which was the new cause of his high blood pressure. We were put on different meds, and that is controlling his blood pressure well for now.

Life with Keifer is always interesting. It's not easy, but I wouldn't trade it for the world. He is an amazing brother to his older sister, and his two younger sisters. He is funny, Sweet, caring and incredibly smart. He has many struggles, but he copes amazingly. He loves Superheroes, Lego, Star Wars and Minecraft. We are so lucky to have him in our lives.

You can follow Keifer's journey at My Slightly Organized Chaotic Life or on Facebook.