Tessier Cleft: The Challenge of Facial Differences

Abnormal Ultrasound Shocks Parents

As it happens frequently, Lacey and her husband found out about possible problems with her unborn child during a routine ultrasound. “We went in for our anatomy scan, mostly concerned with finding out whether he was a boy or a girl because we were ready to start shopping,” said Lacey. “We never imagined in our wildest dreams that there was going to be anything wrong.”

Everything was fine during the ultrasound, but later in the week they received a phone call. “They called and told us that they had seen something on the ultrasound and were concerned, and needed us to come back,” said Lacey. “From there, it progressed throughout the pregnancy, trying to figure out what was really wrong with him.”

Receiving Diagnosis After He Was Born

“This birth defect is really rare, so we didn’t get a diagnosis until after he was born,” said Lacey. “They just never could really get a clear picture of what was going on.” The doctors mostly told them they would have to wait until their baby was born to really be able to identify exactly what the diagnosis was.

Christian was born with Tessier cleft which is also known as frontalnasal dysplasia. Lacey figures there are about 50 people in the world with this condition to the same degree of her son’s. Christian was born with a cleft lip and cleft palate and he is also blind. “The simplest way to put it is that his eyes also clefted along with his cleft lip and palate,” said Lacey.

Beauty in the Eye of the Beholder

Christian has had some medical challenges. He has had to have several reconstructive surgeries and has chronic rhinitis. He also has an overproduction of mucus which is like a cold that never clears up. “They’ve not been fun all the time, and they’ve not always been easy, but I think the biggest challenge that we’ve had to face is social stigmas,” said Lacey. “Christian looks radically different from what most people look like, and we don’t care, we think Christian is beautiful.”

They have had to deal with people making nasty comments, and social stigmas about people with facial differences. “That’s been the hardest part, because we know his value and we know his worth,” said Lacey. “It’s hard when other people can’t see that, because they can’t get past his facial difference.”

Joys That Come From Having a Child with Disabilities

“There have been so many joys with Christian. He is just one ball of joy really,” said Lacey. “I always say that in this family, joy is a lifestyle. We don’t spend time fretting over his disability.” Lacey and her husband know that in the future he will still be blind but prefer to focus on enjoying life with Christian now. “Every single day…we get to enjoy Christian and hear his laughter and watch him enjoy life,” said Lacey. “It brings us joy as a parent, seeing your child happy makes you happy, and Christian is happy all the time about everything.”

Christian is six years old and likes the things that any typical six-year old likes. “We get to enjoy raising a six-year old boy, and the thought that he could have not survived after birth makes us all the more grateful, because we can see all the things that we might have missed out on had he not survived,” said Lacey.

Disabilities Give Parents Perspective

“We really have the perspective of what’s important in life, and I think Christian has given that to us,” said Lacey. They have learned to appreciate the little things and not let them worry or bother them. “The little things are little things, they are just not significant,” said Lacey.

They also recognize there are some big things, but try to keep things in perspective. “We get to see beauty in every day, and getting to be Christian’s parents, whatever challenges we have to face, that’s worth it. That’s the perspective that he’s given us,” said Lacey.

Child with Disabilities Inspires Mom to Write a Book

Lacey has written a book, “Through the Eyes of Hope.” She wanted to help dispel the social stigma that surrounds people with facial differences. She also wanted to present the positive things about Christian and that he wasn’t someone to be pitied.

“We think people look at Christian and automatically think ‘that must be so hard, those poor people’, and that’s not the conversation we want people to be having, and that’s not the world we want Christian to grow up in,” said Lacey. “The book was just one way for me to get our story out there and let people know that there is so much good and there is so much to be found in the life that we didn’t plan.”

Life is More Beautiful Than You Can Imagine

Lacey wanted other people to know that if they are having a child with a similar diagnosis that even though it’s scary and terrifying, it will be worth it. “It will be more beautiful than you ever would have imagined, and your…child will teach you,” said Lacey. “That child will teach you so much about life and so much about who you are and who you want to be. It’s a wonderful journey.”

“We’re just thankful that he’s here. We’re thankful that he is healthy despite his challenges. We have so much joy that the challenges don’t mean a whole lot when the alternative was not having Christian at all,” said Lacey.

The post Lacey: Tessier Cleft appeared first on Orangesocks.org.

Recognizing Every Child Has Something to Give The World

Unnamed rare genetic condition

During her pregnancy, Angie had an amniocentesis performed to understand what was going on with Ruby.  Her head was measuring smaller than what was typical and Angie was told that she wasn’t developing properly.  The results of the amniocentesis all came back normal.  

Her doctors were still convinced that Ruby wouldn’t make it to term and encouraged Angie to have an abortion.  Angie refused and chose to carry Ruby to term. After she was born, they discovered several other abnormalities.

While in utero, Ruby developed a bowel obstruction.  She required surgery when she was four days old. Angie recalled, “She was just really slow to develop..she had to stay in the hospital for 56 days to grow because she was born at three pound nine ounces..there were a lot of ups and downs in the NICU.”

Angie said, “I found out when she was in the NICU that she has a rare genetic condition; however, at the time, it did not have a name and was just a listing of various symptoms.”

Stromme syndrome

11 years after she was born, Angie finally found the name of the syndrome Ruby has.  Stomme syndrome is a very rare genetic condition that affects several different systems of the body.  People with Stromme syndrome typically have intestinal atresia (missing part of the intestine) eye abnormalities and microcephaly (smaller head).  

There is a variety in how each person is affected.  Ruby has a vision impairment, microcephaly and had a bowel obstruction.  Angie says, “Time after time, Ruby has proven them wrong.” when referring to the limited expectations doctors placed on her.

NICU is the hardest experience

Now, 12 years later, Angie says the hardest thing she has had to go through was being a single parent with a baby in the NICU.  Even with the amazing support of her parents and sister, she said, “My family is really supportive, but going through that alone was challenging.”

While Angie found that it was hard having Ruby in the NICU she later realized that there were other challenges down the road.  At first it was hard balancing all her various appointments, finding their new normal, and sending her to school. “I would say that there have been challenges every step of the way, but it also has been amazing.” Angie said. 

It takes a village to raise a child

Taking this meaning to a whole new level, Angie shared, “The most amazing thing for me has been the way people have come into our lives to help us achieve these things I used to worry so much about..it feel like every time i would be so worried, just the right resource and person or clinic would come into our lives and give us the ability to make it happen.”

“The people who have rallied around us with the joy and the inclusion for me have been huge.  I worried so much that she would be bullied in school and that she would not have any friends..she is one of the most popular kids at school and is so well-loved.”

Ruby’s impact is felt around the world

After being encouraged by someone, Angie decided to start sharing Ruby’s story through her Instagram. Angie had no idea how much of an impact Ruby would have.  Angie shared a little video featuring a Q&A with Ruby. Overnight the video had over 40,000 views and Angie gained 6,000 more followers!  

People were in love with Ruby and wanted to know how they could help.  Angie said, “I decided to start a GoFundMe for her because I’ve always wanted to get her a service dog to help with her mobility and independence..I set up the GoFundMe page on Thursday with a goal of $15,000, and we raised the money by Saturday or Sunday morning.”

She added, “I can’t even describe the amazing experience that we went through in doing that.. I just feel so blessed at the outpouring of love and acceptance that we’ve seen.”

Finding healing through sharing

Angie’s final words were, “I just remember feeling so alone when Ruby was first born..I used to hide away a little bit, not that I didn’t want to show Ruby, but because I was afraid of the people not being accepting of her, but I found my own healing in sharing her story.”

She added, “I encourage other parents to share their stories in a way that feels right to them.  There are a lot of personal feeling in that and in connecting with other families.”

The post Angie: Stromme Syndrome appeared first on Orangesocks.org.

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.”

The post Sariah and David: CHARGE Syndrome appeared first on Orangesocks.org.