Letting her light shine
Claire Socha has a vibrant personality and the smile to match. The three-and-a-half year old loves her family, playing with her older sister, Ava, and swimming. But, Claire's entrance into the world proved to be a scary time for her parents, Scott and Renee.
"My pregnancy with Claire was smooth until the very end," Renee recalls. "I experienced some discomfort and they began monitoring me closely. We had a sonogram to check her organs and developments and they detected a two-vessel umbilical cord, which could harm her nutrition. Normally there are three vessels. Closer to 37 weeks, they noticed her stomach was measuring about three weeks behind the rest of her body and the decision was made to deliver early. Other than that, it was normal. I always felt great and the delivery was perfect."
The second day after delivery the Socha family were preparing to take their newborn daughter home. Dr. Karl Wehner, Shannon Pediatrician, came to discharge Claire when he noticed something concerning.
"Claire was delivered a normal, healthy baby girl," Dr. Wehner says. "I was making unit rounds the morning after she was born and she had a seizure while I was in the room."
The quick decision was made to send Claire to the NICU for additional tests.
"We investigated and found Claire's blood sugar was extremely low, enough so to cause the seizure. It was a 17 and normal levels for a baby are between 60 and 120 depending on how much they are eating," he says. "She was immediately placed on IV fluids to bring her sugar levels up. An emergency CT scan of her brain was ordered and it revealed some bleeding."
All of these factors were cause for concern and arrangements were made for Claire to be transported to Cook Children's Medical Center in Fort Worth for further evaluations by pediatric specialists.
"I immediately went home to pack a bag," Scott says. "Once I was driving home, that's when the emotion kicked in. I had recently lost my dad and we were wondering why something like this was happening to us again."
Over the next two weeks Claire had numerous tests to pinpoint to the cause of her condition including spinal taps, multiple scans, and a 24-hour EEG. After the testing, a diagnosis was revealed—Hyperinsulinism. This meant Claire's body was producing too much insulin.
"The insulin was eating her sugar up very quickly, causing the constant low blood sugar levels," Renee says. "She was placed on medication to regulate her insulin and keep her blood sugar at normal levels."
Meanwhile, her care team was still trying to determine to cause of the bleeding in her brain.
"They ran more tests," Renee says. "The blood had subsided, but her neurologist said it was hard to know if she would have any damage. It was a big unknown at the time and it still is today."
After 28 days at Cook Children's, Claire was able to return home. Her blood sugar was being regulated by medication, she was eating on her own, and no additional testing was needed on her brain.
"It was a relief, but also scary to be home by ourselves," Scott adds. "Claire was tough and she didn't know any different. We had to check sugar every two to three hours, even her 2.5 year old sister knew the routine."
After a year and a half, Claire was able to stop taking her medication. But, as she was progressing, Renee and Scott noticed their daughter was not hitting developmental milestones. Claire had low muscle tone and did not want to hold her bottle or turn her head at five months of age. These concerns spurred her doctors to do genetic testing.
The results revealed Claire had two chromosomal defects, Trisomy 10p and Monosomy 9p. Both of these genetic defects cause low muscle tone and developmental and cognitive delay.
"This means a piece of chromosome nine was missing and ten had an extra part," Dr. Wehner says. "The rareness of the defect and the different ways children present with it makes it hard to know what's ahead for Claire, but she is moving along at her own pace and we are definitely celebrating every step she takes."
Scott and Renee are grateful for the progress Claire has made and they take necessary precautions to keep their daughter healthy. Her low muscle tone makes it more difficult for Claire to clear fluid from her system which can cause respiratory issues. She also takes anti-seizure medication as a precaution.
"We just wait until she grows into things to see how she progresses," they say. "She is meeting milestones at her own time frame. We were in the hospital with respiratory issues two to three times the first couple years of her life. At first, if she was sick, she would cough so much she would throw up her food which in turn made her blood sugar low. It was a vicious cycle of worry. It's better now that we don't have to deal with the blood sugar."
This year, Claire has thankfully stayed out of the hospital and has been clear of pneumonia.
"When she does need to be hospitalized, she has been able to stay at Shannon," Scott says. "We are able to see her specialists via telemedicine or at the clinic here. The Pediatrics Unit at Shannon is great. We want people to know about Children's Miracle Network so other families don't have to worry. Having this resource available to families in our community is amazing. It's expensive to travel and hard to leave your family. The ability to have telemedicine and a wonderful unit here and keep your family together is awesome."
"We are equipped to take care of her when she's having seizures and respiratory issues thanks to the education and training provided to our staff by Children's Miracle Network," Dr. Wehner adds.
Claire is progressing steadily and her family is amazed by her ability to light up a room and brighten everyone's day.
"We want to let other families know it's ok to be proud of their kid and who they are," they say. "We still laugh and cry and that's ok. Every kid is a miracle. Claire is a miracle because she brings so much happiness to everybody. She has beat a lot of odds, but she is ok with everything and she is going to live life to her fullest. That's what I love about her. You can be having a bad day and her smile will turn everything around. She's our light in our family."