wolfhirschhorn.org

I have been reading this site for the last few months so I thought I would take a minute to introduce my son Evan! He is 2 years and 10 months old and at 8 months old was diagnosed with a deletion (WHS) and duplication in chromosome 4.

My husband and I were thrilled to find out we were expecting our first baby a little before our first anniversary. My pregnancy went smoothly. However, I didn’t gain a lot of weight during the pregnancy and I didn’t feel the baby move very much, but the doctors were not overly concerned. At 41 weeks we decided our boy had to have a little incentive to come out, so I was scheduled to be induced. I had a very difficult labor and at 6:14 pm I finally delivered our sweet baby boy, Evan Joseph. He weighed only 5 pounds 14 ounces. I got to hold him for a few precious moments, but soon noticed he was having trouble breathing. He was sent to the NICU where they found out that he had phemorthorax and he had to be on oxygen for 24 hours. Evan was also having a lot of difficulty eating. Once he started gaining/maintaining weight we were told he could come home! When we left the hospital after 12 days in the NICU we thought we had gone through the worst of it.

The first few months were great. My husband and I were so excited to be first time parents. We didn’t start to suspect there was delays until a little before Evan was 5 months old. At that time he was still so much like a newborn. We decided to go ahead and get him evaluated for developmental delays. Evan’s scores were low across the board and we were referred to a neurologist and started him with therapy with an Early Interventionist. My husband and I were so worried and confused and we wanted to know why. We began searching for answers. We took Evan to a developmental specialist who suggested we meet with a geneticist. Evan was 8 months old when we found out that the microarray test revealed a continuous duplication and terminal deletion of chromosome 4. We were told the 4p16.3 terminal deletion includes the primary genes implicated in Wolf-Hirschhorn. The doctor went on to tell us that she could not find any other child with a similar duplication to Evan’s and that she had no idea how the duplication would effect Evan’s development.

Since then, Evan has succeeded his doctors expectations and continues to amaze us everyday!

Overall, Evan’s health has been pretty good. Evan has acid reflux and has been on medication since he was only a few months old. As an infant Evan got sick more often and had immune deficiencies. When he would get sick it would take a long time for him to get better. Now when he gets sick he is able to better fight off the sickness. At 24 months Evan started having complex partial seizures, but they have been able to be controlled now that we have him on Keppra. Evan was diagnosed with cortical visual delays a few months ago and is starting visual therapy after the New Year. Evan has also failed multiple hearing tests. However, when his ENT put tubes in his ears they found that he had thick mucus behind his eardrums and that his eardrums were twice the thickness as normal. This was causing the initial hearing problems and after he got the tubes in he started being able to make noises and now is starting to show signs of wanting to repeat sounds we make! This has been a huge step for Evan!

Evan has been developing at his own pace. He continues making progress daily and is so determined. Evan wears ankle orthotics to help support him in standing and walking. He started taking independent steps at around 2 and a half. He continues to work on his balance and perception. Evan’s diet consists of soft table foods and some purees. He loves cheese, yogurt, and mangos. We are working on getting him to chew consistently, lateralize his tongue and self feed. Evan has never been on a feeding tube, but feeding has been one of our biggest challenges. Evan does not have great use of his hands and needs a lot of help with his fine motor skills.

Some of the therapies we do with Evan are PT, OT, and speech. He will soon be starting aquatic therapy because we discovered that Evan has a love, and no fear of water. Evan smiles the whole time in the water and will do things in the water he would usually not do. The water is a great motivation for him! He also really loves music and he does the Therapeutic Listening Program daily. He responds well to vestibular movements and this helps a lot with his sensory processing. Thank goodness we live in Florida and can use our swing sets almost all year round. We recently got Evan an ipad and he is doing great with the cause and effect apps. His favorites are the fireworks and magic piano apps.

He still has a long road ahead, but he is continuing to amaze us with his determination. My husband and I are Evan’s biggest cheerleaders and we celebrate every milestone he reaches, big or small, because we know how hard he had to work to get there!