Overcoming Challenges to Find Joy

Discovering more than the gender at an ultrasound

Kim went to her 18 week ultrasound expecting to find the gender of her baby.  It was there that doctors informed her there were some abnormalities. Kim recalled, “They saw that she had what they thought was a cleft lip and something wrong with her heart.”

They were referred to a high-risk OB who monitored them closely until Jackie was born.  For the first six weeks of her life, Jackie was in the NICU. During that time, Kim was told about the possible diagnosis of CHARGE syndrome.  Even though Kim is a nurse, she had never heard of it before. She said, “They ordered an exam of her eyes and ultrasound of her brain plus hearing tests, all of which were common problems in CHARGE.”

Jackie had an optic nerve lipoma in both eyes, which could lead to blindness.  She is profoundly deaf in one ear and has mild hearing loss in the other, she has a heart defect and had a cleft lip and cleft palate.  Kim said, “They learned she had hip dysplasia on her right side. We’re not sure if that’s related to the CHARGE of if that is kind of icing on the cake, but it felt like there were lots of hits back to back.”

What is CHARGE syndrome?

CHARGE syndrome stands for: coloboma (vision), heart defects, atresia choanae (narrowing in the back of the airway that caused breathing difficulty), growth retardation, genital abnormalities, and ear abnormalities.  

CHARGE syndrome is considered to be a very complex syndrome that involves several different systems of the body.  Each person is unique in the degree that each system is affected.  

Jackie was officially diagnosed with CHARGE when she was three months old. Kim said, “These kids are all unique, and you just don’t know where your child is going to fall on the spectrum, so it is scary..we just had to wait and see how she develops and what problems she has.”

Information can be overwhelming

Kim said that one of the hardest things they have had to deal with, is the amount of information they were given at the first.  She said, “Obviously it was hard to digest all of that information at one time. She has the vision impairment..We’re trying to digest that, then someone comes in and tells us that she’s deaf and partially deaf.  It was very, very difficult to digest all of that.”

While they were waiting for the results to confirm Jackie’s diagnosis, they were given a booklet called, ‘This is CHARGE’ and were advised to stay off of Google.  Something Kim said, “..so of course that’s the first thing you want to do, and you do freak out because it’s very intense and extreme.”

Before they left the NICU, Kim said that she had a conference with the medical providers that were helping with Jackie.  She said, “I felt like I had all of this information kind of thrown at me and was trying to digest it as a new post-partum mom ..I felt like they were throwing this information at me but not supporting me or comforting me and telling me that it was going to be okay.”

Finding joy in the journey

At 19-months-old, Jackie has faced six major surgeries.  Kim said, “Let’s see what we can do to make her the best she can be.  Seeing how she is now is just amazing. You would never look at her and think she has to deal with all of these challenges.  She is happy and sweet and really funny, and her personality is starting to come out..her ability to learn and understand things is better than we could have fathomed, so she’s brought lots of joy.”

Having Jackie in her life, Kim has a new outlook.  She said, “Honestly it has been a really big blessing, and it has changed the way we view the world.  It has put a positive light on everything and makes you realize what matters and what doesn’t, to let the silly things go because life is very precious.”

Treating your child like everyone else

The best advice Kim could offer for a new parent was, “It’s going to take time to accept everything you are facing because it’s very hard, and there’s no sugar coating it.  It is very, very challenging for everybody involved, but hang in there and treat your child as you would any other child.”

She continues, “No matter what happens, you’re going to be amazed by them.  We are amazed by Jackie every single day, the things she can do and the fight she has.,  Just hang in there because it does get better, and it will change your life for the better.  In the end, it really is a huge blessing to our family, and we wouldn’t change it at all.”

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Diagnosis Doesn’t Define Who He Is

Newborn requires surgery

A few hours after he was born, it was discovered that Spencer had a tracheoesophageal fistula or TEF.  Sariah, his mother explained, “Essentially with the TEF, the esophagus and his trachea are supposed to form one tube that then splits into two, but his didn’t split all the way, so he had a connection between the two tubes.” 

Spencer was life-flighted to a different hospital and had surgery to help correct the TEF when he was less than a day old.  This was the first of three surgeries he had in a six-week period. Spencer also had a blind pouch. “..so his esophagus grew down midway into his chest, and then turned around and grew into itself, so he had no connection to his stomach at all.  That meant that if he took anything orally, which in infancy would all be liquid, it would have gone to his lungs and he would have drowned.”

Receiving a diagnosis 11 years later

In addition to having to TEF, Spencer is also deaf and has a vision impairment.  These are all things that are common for people who have CHARGE syndrome. Although Spencer has never had a genetic test done, Sariah said that he has a clinical diagnosis.

She explained what CHARGE syndrome is, saying, “Each letter in the word CHARGE stands for a different birth defect, so it’s kind of an umbrella term for a bunch of things..a lot of kids with CHARGE syndrome will have a cleft lip or cleft palate.  TEF is really common for heart problems, growth issues, hormonal issues, hearing and vision problems..gastrointestinal, endocrine, all of those things.”

Challenges in raising a child with CHARGE syndrome

For David, Spencer’s dad, he said the challenges in raising Spencer has been communication.  Since Spencer is deaf, he uses sign language to communicate. However, this was something that David felt like he didn’t take the time to do.

He also explained that children who have TEF are prone to get things stuck in their throats while they eat.  He said, “..sometimes if he ate too quickly, he would get stuff caught in his throat, and if we couldn’t get it out, then we would have to go to the hospital and they would have to go in and scope it out.  That was always stressful, just trying to make sure he is eating properly is probably the biggest challenge.”

This is something that has become less of an issue as Spencer has gotten older.  Sariah said that it was only an issue until Spencer was about seven or eight years old.

Being kind despite how you are treated

Both Sariah and David commented about how kind Spencer is to everyone.  Sariah shared, “He has this amazing ability to love everyone regardless of how they are, or how terrible they treat him.  It doesn’t even phase him. He just loves everybody with this amazing love that is a good example, so that is really great to see.”

David said, “He is just one of the happiest kids you’ll ever meet despite all these things. You look at his life, and you think, ‘Wow, that’s gotta really suck.’ and he is just the happiest kid you know.”

What to do when your child has been diagnosed with CHARGE syndrome

“Start learning sign language right now would be my first thing.  The second thing would be that there is a CHARGE syndrome website, and I would say to go there and talk to the specialists..they have tons of knowledge, and they will coordinate with your doctors.” Sariah advised.

David’s advice echoed Sariah’s, he added, “..it’s also important to find other families who have children with CHARGE to create that social support.  It doesn’t necessarily have to be other families with just CHARGE; you can get involved with other families who have other disabilities.”

Not letting a diagnosis become who you are

Spencer has a developmental delay.  Because of this, his Parents wondered what he would be able to accomplish.  Sariah said, “..we didn’t know if he’d ever go to college or live independently or drive a car.” 

Spencer has exceeded even his parents hopes and dreams.  Sariah added, “Right now, I can say that he is in college at UVU in his second term…he does it with accommodations..so it’s possible.  You can make it work. It might take making a little bit of extra effort but you can totally do it.”

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