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

Comments

Popular posts from this blog

Parenting an Adult Child with Disabilities

  "Parenting an Adult Child with Disabilities" is a series on eSpeciallyBen. As Ben approached 18, it was clear our role changed as parents. We needed to help Ben transition into adulthood. These stories are meant to assist other families who face, or will face, some of the same challenges. Talking About the Future Guest Post - Matt Wilson Legal Guardianship, Medicaid and SSI Researching Group Homes Questions to Ask at a Group Home Visit Referral Packet for Group Homes Getting Assistance from a Care Manager From Group Home Placement to Discharge Reaching for Independence

He Ain't Heavy, He's My Brother

After my post, Brotherly Love , I received an email from a reader who reminded me of this song. I knew the song, but had never really thought about the words and the meaning behind them. I looked it up and thought others might see the lyrics in a new light.   He Ain't Heavy, He's My Brother The road is long With many a winding turn That leads us to who knows where Who knows when But I'm strong Strong enough to carry him He ain't heavy, he's my brother. So on we go His welfare is of my concern No burden is he to bear We'll get there For I know He would not encumber me If I'm laden at all I'm laden with sadness That everyone's heart Isn't filled with the gladness Of love for one another. It's a long, long road From which there is no return While we're on the way to there Why not share And the load Doesn't weigh me down at all He ain't heavy, he's my brother. He's my brother He ain't h

Kids Who Volunteer

On Saturday, Kidz That Care , a nonprofit organization in Charlotte, visited Ben's Easterseals UCP group home to "Pack the Pantry" with groceries and beautify the front porch with flowers. Ben joined the group outside and watched them plant poinsettias, sweep leaves and wipe down tables.  I wasn't sure how engaged Ben was in the activity but when I tried to take him for a walk, he made it clear he wanted to stay and observe. He hugged the one adult with the group (not the photo above).  When the group was leaving, Kidz That Care asked to take a photo with Ben. I noticed how Liam, one of the teen volunteers, kneeled next to Ben rather than stand behind him. Usually people not comfortable around Ben are hesitant to get close. I was impressed with Liam's willingness to bend down and be at his level. Then Ben leaned in for a hug and held on to Liam for several minutes. Ben's hands were tight around Liam's neck and he kept his head on Liam's shoulder. It w