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Why is my son rapidly aging?

I got a call from the genetics counselor, a call I'd been waiting for but dreaded at the same time!

At 15 months, my baby Shelton was diagnosed with Cockayne Syndrome.

In May of 2011, at the age of 31, I found out I was pregnant with my third child. It was the best news ever, considering that my oldest child was 15 and my youngest was 11. I remember calling my mom to tell her the wonderful news. She was so happy for me. She told me at the time that she had been feeling nauseas lately and now she knew why. My mom and I always had a special bond, and she always felt when I was pregnant as if she was herself.

It was June 20, 2011 when I had an ultra sound to see how far along I was. I remember taking a picture of the sonogram photo and texting it to my mom. She quickly called me, expressing joy and happiness. Two days later, I remember being at work and happy that my shift was almost over. Around 4:50 pm my sister called me; her tone was different and I immediately knew something was wrong. She said, "Veronica! Mom was in a really bad car accident and the police said she didn't make it."

My heart sank; I was in disbelief to hear that my mom died. It was the most painful feeling in the world to hear and have to deal with especially being pregnant. Never in a million years did I ever think my mom of all people would die. Because I was pregnant, I never really had the opportunity to grieve her, I didn't want to hurt my baby from being depressed. As the months went by, I still hurt. It is a pain that will never go away, but I had to make sure I stayed strong enough to continue to have a healthy pregnancy and to take care of our grandma, my children, and my siblings. To help them with their pain I had to remain strong. My pregnancy was normal with no complications or concerns for my baby. I couldn't wait to meet him!

On January 13, 2012 I gave birth to a six-pound, healthy beautiful baby boy we named Shelton! He brought more light to my pain, his beauty was heaven-sent and all I could think about was how I wished my mom was with me. The delivery room just wasn't the same, but I had to stay strong and take it all in that my baby boy was here. Shortly after his arrival the nurses noticed something different with his feet; they were inwards and to best describe it, they were shaped like a rocking chair. Discharge day came and Shelton had to have a hearing test done before we were able to go home. Sadly my baby did not pass the test, and it was heartbreaking to hear that my baby could possibly be deaf. Having weirdly shaped feet and him not passing his hearing test, I thought, "what else could go wrong?" Yet, it sure wasn't going to change the way I loved him.

On Shelton's two-week checkup, he was referred to a hearing specialist for further testing and a pediatric orthopedic doctor for his feet. After seeing these specialists, we later found out that my baby had mild/moderate hearing loss and vertical talus feet. Later after his birth I started calling him baby, but not knowing he would be my baby forever, literally! At baby's two-month check, he was not growing as expected and his head was smaller than average and this led to him being diagnosed with microcephaly that time. At four months Shelton was referred to see a geneticist, but beforehand his pediatrician wanted to be proactive and ordered a general genetic blood test, EGG, and MRI.

Two months passed and when he was six months old, we finally were able to see a geneticist. At the visit the geneticist did an evaluation of his body, asked questions about family history, and went over lab results which at that time we had no answers to what was going on with his little body. His next appointment with genetics was scheduled six months out, because we didn't have an actual genetics clinic in Anchorage, Alaska, and a team of doctors flew from Seattle every six months.

At 10 months a g-tube was placed due to poor weight gain. Before the g-tube was placed, he was eating and nursing with no issues, but wouldn't gain any weight. Shortly after he turned one we were scheduled to see another geneticist; I was finally able to get some answers with this doctor. He told me, "your son looks like a child with Cockayne Syndrome (CS), but first we will test for CMV, if that comes out negative we will test for Cockayne Syndrome." I did a little research and saw some children with CS, I thought to myself, "My baby does not look those kids!" I was also pregnant with my youngest son and knew that I couldn't let this stress me out, and again at another point in my life where I had to continue to be strong and not let anything tear me down. My sister insisted that he did, but I didn't want to believe it.

On April 16, 2013, I got a call from the genetics counselor, a call I'd been waiting for but dreaded at the same time! At 15 months, my baby Shelton was diagnosed with Cockayne Syndrome. In May we saw the geneticist in person for the actual conformation and findings. The geneticist found a mutation in his ERCC6 gene. The ERCC6 and ERCC8 genes provide instructions for making two proteins, called CSB and CSA, which are involved in repairing DNA. If either gene is altered, DNA damage is not as rapidly repaired. As a result, damaged DNA accumulates, which probably leads to impaired cell functions and eventually, cell death. Increased cell death likely contributes to features of Cockayne syndrome such as growth failure and premature aging.

Cockayne Syndrome has 3 different types, I, II, and III. Type I and III are the mildest and type II is the most severe. My baby has type II. Not only was he diagnosed with CS, Shelton was the only child in Alaska with this horrific life-limiting disease! Not one single doctor in Alaska knew about CS except for his neurologist. Can you imagine? When we left his appointment, I was numb, lost, hurt, and in a state of shock. I don't remember even crying, because it was just unbelievable and I was still in doubt. I thought to myself, "what's next, what am I supposed to do?" I was given a folder with information about Cockayne Syndrome and that was it! I was looking over the material and came across an organization named Share & Care Cockayne Syndrome Network. It was life changing connecting with them!

Let me back it up a little. When baby was eight months old, I discovered I was pregnant. Considering Shelton's diagnosis I saw a specialist throughout this pregnancy too. I declined more genetic testing as I felt that because Shelton had multiple issues I loved him with all my heart and that I would also give this child the same unconditional love.

Brendan was born April 24, 2013, at a whopping 8 lbs. 3 oz., as healthy as can be. After my delivery blood was drawn from his umbilical cord, we later found out that he is a carrier of CS. He had a 25% chance of being born with CS like his brother.

Over the past years Shelton has seen at least 50 different people in various fields to include specialists, OT, PT and speech therapist, nursing services, and preschool coming to our home to help Shelton. One thing I do regret is his pediatrician not being proactive and starting therapies sooner. Shelton is almost five, he is unable to sit and stand unsupported, and he will roll and scoot all over the place to get to his momma. I do believe if therapies were started sooner, he would be able to sit unsupported and crawl instead of rolling, even a possibly walking or standing on his own.

But no matter what Shelton's diagnosis was, it wasn't going to change the way that I loved him."

WHAT IS COCKAYNE SYNDROME?

Cockayne Syndrome (CS) is a rare genetic disorder characterized by poor growth, microcephaly, and impaired development and progressive degeneration of the nervous system, premature aging, sensitivity to sunlight, moderate to profound developmental and neurological delays, abnormal brain development and degeneration and a shortened lifespan.

CS is inherited by both parents having a gene mutation.

This syndrome is so rare that only two newborns out of one million per year are born with CS.

CS is also a DNA repair disorder, once DNA is damaged it doesn't repair properly and cells eventually go away, and the cell damage causes accelerating aging.

There are three types of CS:

* Type I (Moderate)--Is characterized by normal prenatal growth with the onset of growth and developmental abnormalities around the age 1. Typical life span is 10-20 years old.

* Type II (Severe)--Is characterized by growth failure and other abnormalities at birth, with little or no postnatal neurologic development. The typical lifespan is up to seven years old.

* Type III (Mildest)--Is characterized by a later onset, lesser symptoms, and/or slow rate of progression. Lifespan unclear but can extend to 40 or 50 years of age.

Veronica Cuevas and her family reside in Anchorage, Alaska.

Caption: DOWN BUT NOT OUT: Shortly after Shelton turned one, we saw another geneticist. He said "your son looks like a child with Cockayne Syndrome." I was also pregnant with my youngest son and knew that I couldn't let this stress me out, and again at another point in my life where I had to continue to be strong and not let anything tear me down.

Caption: LOVE WITHOUT LIMITS: When Shelton was eight months old, I discovered I was pregnant. I declined more genetic testing as I felt that because Shelton had multiple issues, I loved him with all my heart, and that I would also give this child the same unconditional love.
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Title Annotation:Cockayne syndrome
Author:Cuevas, Veronica
Publication:The Exceptional Parent
Date:Feb 1, 2017
Words:1722
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