Skip to main content

eSpecially Parents: Denise's Story

My name is Denise and I live in Texas with my husband, Matt, and our three children: Jason (5 years old), Luke (almost 3 years old), and Madelyn (5 months old). Matt is Vanessa’s cousin from New York. I have been following Ben’s blog every day for about a year now. Having a special needs child of my own, this blog gives me inspiration. I enjoy cheering Ben and his family on during the rough patches and hearing about his latest accomplishments. This is why I am happy to tell the story of my son Luke and his life with CHARGE syndrome.

Luke was born six weeks early after a normal pregnancy which was not unusual since my first son was also preterm. He had to spend some time in the NICU, but appeared to be otherwise healthy and beautiful. During his stay in the hospital, several things were pointed out to us that led us to believe that something was wrong. First it was his ears: low set and smaller in appearance. I didn’t think that was anything to worry about at first. Some people have small ears other have large ears. Then it was the failed hearing screen. I thought that had to be an error; probably due to fluid in the ears. After all, there is no hearing loss in the family. Then it was the holes in his heart that were found after a murmur was detected. Luke wound up staying in the NICU for 3 weeks. I just wanted to take him home and pretend he was a normal healthy baby. That idea did not last very long.

Once we got home from the hospital, more issues appeared and our suspicions about Luke’s hearing were confirmed. We noticed that the right side of his face didn’t move as well as his left side. An MRI and CT scan showed an abnormal facial nerve as well as missing vestibular system (balance). Tests also revealed that Luke had severe to profound bilateral hearing loss and he was quickly fitted with hearing aids. Luke also was also missing several developmental milestones and he was started in physical, occupational, speech, and deaf education services. Several months later we found out Luke also had a dysfunctional swallow. We soon began vital stimulation to help retrain his muscles to properly swallow. He was placed on a diet of puree food and honey thick liquids. Needless to say, it was a rough first year and we had no idea why this was all happening.

Luke’s second year of life was just as difficult as the first. Although it seems like we were finally able to go to the doctor without some new health problem being discovered we knew we had to manage the ones he already had. During this time, Luke had surgery to repair the hole in his heart. He also had a cochlear implant placed for since hearing aids did little if anything at all to improve his hearing. A short time later, Luke underwent a facial nerve graft for his facial paralysis. Our hope is that he will continue to regain movement on the affected side and be able to smile spontaneously.

In researching Luke’s condition, I ran across a syndrome called CHARGE syndrome. CHARGE stands for Coloboma of the eye (which can cause vision issues), Heart defects, Atresia of the choanae (blocked nasal passages), Retardation of development, Growth difficulties and Ear abnormalities. There are also a number of other birth defects that fall under the CHARGE spectrum. A genetic test for CHARGE is available, but since it only picks up 2/3 or less of the children with this syndrome, a diagnosis is made primarily on clinical findings. Luke has 3 of the main components of the syndrome (Heart, Retardation of development, and Ear issues). Luke seemed not to totally fit the profile however a CT scan of his ears showed abnormalities consistent with CHARGE.

After many months of research and seeing several doctors and 2 geneticists, Luke was finally diagnosed with CHARGE syndrome. For us it has been a relief to get a diagnosis and meet other children who have been affected by CHARGE. No two cases are exactly the same and some are more affected than others. We are members of the North Texas Charge Association which has been a good support system and source of valuable information for us.

Today Luke is a happy, reasonably healthy little boy who loves the park and hanging out with his family. He just learned how to walk and loves to practice his new skill. He is able to hear with his cochlear implant and can say a few words (although he doesn’t use them as much as I would like). His favorite word is “No” and he will even point his finger when saying it. Pretty cute , huh! He also had a facial nerve graft last year and is getting some movement of the right side of his face. We still have some minor health issues and multiple therapies to go through but I always look forward to seeing his progress.

Read more about the eSpecially Parents Series here


Popular posts from this blog

Catching up with Ben

  I wish I had more time to write on eSpeciallyBen . Ben teaches us lessons on a regular basis: Smile often, give hugs, sit down and savor the moment, grab someone's hand to let them know you care and laugh with abandon–even if it annoys your brother. Ben will be 18 this summer. He attends high school in-person and enjoys seeing his classmates and teachers each day. In the photo above, it's 6 a.m. and he's can't wait to get on the bus. As for most people, the pandemic has been tough. Ben's in-person activities, camps and programs were canceled. He's happy to see grandma when we met on a Charlotte greenway or park. Ben seeks out social interactions and being quarantined away from friends and family was even more difficult because he didn't understand why. Ben's teacher sends me photos of him throughout the week. They just finished a rousing game of catch here.  Thank you for following eSpeciallyBen. If you want to see what I'm working on now, find me

A Lesson on Supplemental Security Income

In October, I received a letter from Social Security Administration saying that Ben no longer qualified for SSI AND we owed a very large over payment for two years of SSI that Ben did receive. The letter showed that we owned two of the same car. I knew this was wrong and immediately wrote a letter. I thought it was a computer glitch. Over the past five months, I have met with Social Security, spoke with several people over the phone and wrote countless letters providing documentation to show the cars we actually owned and filed appeals for the decision to revoke Ben's SSI during the two year period they think we owned these two cars. Tomorrow I have another meeting. I am hoping we can get this straightened out. This situation has caused a lot of stress for us and has taken a tremendous amount of our time trying to unravel the problem. I have not written a post in almost a month, partially because my brain power has been consumed with this issue and the bathroom saga (qualifies

Parenting an Adult Child with Disabilities: Talking About the Future

Ben in the middle with Dad (left), Carla Payne with Aging Care Matters and Mom This is the first of several posts about parenting an adult child with a disability. Ben will be 19 this summer; I am learning along the way. As always, I hope to pass on resources and wisdom. Discuss the future.  If your adult child is able to participate in planning for their future, ask them how they envision it. Let them draw a picture. Ask them to tell you a story. Maybe they can sign a few words that mean a lot to them. Find a way to get them involved. How do they see themselves living? By themselves, in a group home, with another family or with a sibling? Where do they want to live? In another city, in an apartment, in a house? How far away do they want to live from family? What level of independence can they handle? Do they want someone to check in on them? Do they want to find a job? Do they need a job coach or supportive employment? Who will help them with their finances? Is there someone they tru