Herington child with mosaicism lives life to the fullest

Oct. 26—October is Down Syndrome Awareness month — a month to raise awareness and celebrate the many abilities of people with Down syndrome.

"I think awareness and education for all disabilities is incredibly important so that other people know how to interact and act with them and around them," said Kat Souza of Herington.

After her twin daughters were born, Souza and her husband DJ learned one of them had mosaicism or mosaic Down syndrome, a rare form of the genetic disorder that occurs in about 2% of all Down syndrome cases.

People with mosaic Down syndrome show extra chromosomes in some cells, as opposed to all their cells. Human DNA typically contains 23 pairs of chromosomes, making 46 in total. Babies born with trisomy 21 Down syndrome, the most common form of the condition, have an extra copy of the 21st chromosome. In mosaic Down syndrome, there is a mixture of cells — some cells contain the standard 23 pairs of chromosomes, and some contain the extra copy of chromosome 21, according to Medical News Today.

"Jolie is a lot like other kids, but she does have some differences," Souza said.

The seven-year-old is a little delayed and has some speech difficulty. However, she is surpassing benchmarks in reading and math for her grade level, recently graduated out of her speech therapy class and is only in special education on an as-needed basis this year.

"It takes her maybe a little bit longer to understand (academic) processes," Souza said. "But once she starts to understand those processes, she has it. She's a phenomenal reader. Numbers were a little bit scary for her at first, and sometimes she still gets a little tripped up with them."

Having Jolie in a typical school setting allows her to observe other children her age in the same way when she was a baby, she learned by watching her twin and their three older siblings.

"She gets to see everybody do all of these things and then she gets to be encouraged by it," Souza said. "It allows her to have that kind of that confidence and that push to keep trying. It gives her confidence rather than makes her feel like there's something wrong with her."

Giving her confidence has been Souza's focus from the time she learned of the diagnosis. The family has always tried to instill the mindset of determination and tenacity.

"If she is struggling with some things, normally she will find it within herself to take a big deep breath and say, 'I can do this,'" she said.

The one area she has the most trouble has nothing to do with academics. Jolie has a difficult time eating.

"Probably the biggest question that we get is, 'Why don't we ever see her eating? Why is she not snacking on things?'" she said. "Most kids love fruit snacks and chips and popcorn and she won't do it. She's a very particular little girl. She knows what she likes. She knows how she likes it. And getting outside of that realm of comfortability is sometimes really difficult."

Learning about MDS

When Souza learned Jolie had mosaic Down syndrome, she wasn't a complete stranger to the world of disability. She has friends who have family members with Down syndrome so she was a little familiar with it, she said.

But one phone call 17 days after the twins were born put her on a path of learning more about Down syndrome than she had ever dreamt she would.

Jolie and Mari were delivered in Manhattan. The doctors were concerned about Jolie's low muscle tone and when she had not made her meconium bowel movement within 24 hours the decision was made to fly her to the neo-natal intensive care unit at Welsey Medical Center in Wichita

"Literally once she landed, she did what they were upset that she hadn't done," Souza said.

It was at Wesley where it was suggested they have genetic testing done.

When the results came in there was no meeting with the doctor to break the news and explain the diagnosis. Souza had just returned home from the NICU and was tending to Mari when the phone rang.

"I get this phone call from the endocrinologist, and she's throwing all of these terms at me and telling me she'll need this medication for her thyroid and she was talking about how this is very common with mosaicism," she said. "I said, 'Whoa, whoa, whoa,' I was on board until that word."

That was when the endocrinologist found out that no one had told the Souzas their baby had Down syndrome.

"That brought out a lot of emotions," Souza said. "Honestly, I wasn't expecting that, who would expect that? And then to have it be an accident when you were told — it was a nightmare scenario for me."

She doesn't harbor any ill feelings about it now. Jolie still has the same endocrinologist who made the call.

"It was truly it was just an accident," she said. "She would never have made that phone call if she knew that I was not aware at that point."

While the news wasn't delivered to her the way it should have, the news didn't change the fact she had just learned something she said no parent wants to hear — her child has a genetic difference.

"It only took me a week or so to really stop feeling sorry for myself because I realized I didn't have a reason to feel sorry for myself," she said. "I have a child with a genetic difference. And the best thing I can do is armed myself with information."

She joined all the Down syndrome groups she could find and contacted parents of children with mosaicism. She read scholarly studies and sought out information about all the pieces that go along with Down syndrome. She learned about the immune system, thyroid issues, sleep apnea, restless leg syndrome and more.

"I wanted to make sure I was educated about it," she said. "We did not tell any of our friends or really anybody other than our parents and siblings that she had with a Down syndrome for a year. I wanted to make sure that if someone asked me a question about it, I was able to speak on it in an educated manner."

As she soaked up all the information she could, she watched Jolie grow, and it was evident the best thing she could do for Jolie was to raise her like all her other children.

"She has never really known that she's different," Souza said. "If you ask her if she has Down syndrome, she will tell you yes. But as for anything else, she's just a regular kid who does everything that her sisters do. I think the biggest shock for me was getting over the fact that she has a disability."

Right from the start she was told to wait and see. No one could predict what her cognitive or physical skills would be.

"I don't think I was ever really aware of the spectrum of how every individual is different," she said. "I guess it's ridiculous to even say that because you and I, we're different. My husband and I, we're different. Everybody's different, but in my mind it was this is this one disability and all of these individuals with his disability are going to be similar. And while they are similar, I have definitely learned that that is not the case in every area."

When Jolie was little, there was a little more work that went into her care. There were medications to take, blood sugar levels to check and making sure she could eat without choking or aspirating.

"It was literally a whole new world," she said. "Especially when you have twins because you're managing two at the same time. But realistically, she was just a difficult newborn baby and sometimes newborn babies are difficult."

Now, as she watches Jolie learn and thrive, Souza is positive about her daughter's future. The fear she had when Jolie was a baby has passed. Much of that fear was rooted in the unknown.

"Once you become educated and once you see how fulfilling their lives can be, there's nothing to be fearful about," she said. "That is one of the big reasons I love to share about her because she's just another kid. There are just so many different possibilities for her —the sky's the limit."