Different is beautiful

Family works to fund genetic research into daughter’s unique disorder

“I know that no one has a looking glass, but to not know is my child ever going to learn to walk, talk or is she ever going to get married or hold a job or have children? No one can tell me, but how about a small bit of insight?”

–       Leeann Messick, Skialar’s mother.  Staff Writer John Coffelt  

Like most infants, 21-month-old Skialar Messick is a beloved gift to her family. But unlike the vast majority, Skialar was born with an extremely rare, and largely unknown genetic condition, 2Q37 micro-deletion syndrome, in which a specific section of her DNA is missing. “I know that I can never fix it for her. As a mom that’s your job to fix things for your child and I’m heart-broken because this is one thing that I’ll never be able to fix,” said Skialar’s mother, nursing student Leeann Messick. “It’s kind of hard for us to explain [her condition] because [the medical community] has no idea what that means for her future,” Leeann said. Basically, a 2Q37 micro-deletion, is a congenital disorder, not inherited but is described as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. The missing section varies in affected individuals. Thus associated symptoms are extremely varied – intellectual disability, developmental delay, behavioral problems, characteristic facial features and a range of physical abnormalities. In Skialar’s case the specific deletion is one-of-a-kind. “She’s the only person in the world that physically has this specific break point where it is mosaic on point-2 and point-3, (on the 37 band of the second chromosome) but point-1 is terminally deleted,” Leeann explained. In other words, while some of the other 267 or so cases of 2Q37 micro-deletions have completely missing segments in that section, Skialar’s is mosaic, or, in effect, “partially there.” For her that means that geneticist really can’t predict what her medical future will hold. That’s where research can step in and help. More precise test can peer deeper into her genes for specific deletions that can be compared to others with the same deletions. The Messicks are working to get Skialar into a study by Dr. Eric Morrow at   Bradley Hospital in Providence, Rhode Island.  The study is free, but the expense of travel and lodging is on them. While Skialar has had genetic tests performed already, the results are too generalized to provide much insight. “[Doctors] only know what 2Q37 controls. It doesn’t have anything to do with the break points that these children have,” Leeann said. There are similarities but with the information they have, it’s a case-by case comparison. Some children have feeding tubes because they forget how to eat. Skialar can eat, but struggles to gain weight. “What we do know about Skialar so far is that she is severely developmentally delayed in all of her aspects of life. She did not crawl until she was almost 16 months. She still cannot walk by herself. She has severe hypotonia (weak muscle tone) that affects her walking.” The tests zero into a specific areas of Skialar’s DNA, but as the tests sort of “zoom in” on the missing sections, the cost and level of complexity increases. For the Messicks, the search for answers is more than a search for information, it’s a proactive approach to her health. “They are going to see if there is anything we can do for her future,” Sheila said referring to the Rhode Island research, “to see if there is something that we can do right now rather than wait until a problem arises.” For example, some of the 2Q37 patients are susceptible to kidney problems and need a running prescriptions of antibiotics. Skialar has abnormally developed, horseshoe-shaped, conjoined kidneys. Whether she’ll need a lifetime of antibiotics. “What if there is some medicine she supposed to be on,” Leeann wonders.  “We are just not getting the best answers that we can get to provide the best care that we can for her. I’m not going to give up on her and let her lay there. “Even if it doesn’t show us anything at all, maybe we can help another child that is born with it,” Leeann said. “I don’t want any mother to go through what I did – not knowing what is tomorrow going to bring for my child. That is the worst feeling in the world.” Sheila recalled the frustration at receiving another inconclusive test results, “I been told 10 times that no one is like [Skialar], you know what, no one was like the first victim of AIDS, but [medicine] dug deeper and figured out what was happening. With her disorder no one knows, so why doesn’t someone start digging?” Leeann further describes some of the challenges that Skialar has already faced in her short life. “When she was born, the back part of her brain was not fully developed.” But her forebrain was being pinched by her skull. “She had cranial surgery when she was eight months old. They fully reconstructed the entire skull, her forehead and around the orbitals of her eyes,” Leeann said. Sheila added that communication is a big problem for Skialar. “She can’t communicate what she wants and what she needs,” Sheila said. Sometimes it’s as if the youth acts out because of her frustrations.   She describes Skialar’s mind working faster than her body can respond. As if the signal get lost in route to lifting her arm. Additionally Leeann observed, “I would say she’s mildly affected [by the condition]. She’s very smart, and quick to pick things up, but some of the things she’s severely affected by.  She has regression. She learns things and can do them, but when you teach her something new, she completely forgets how to do what you just taught her,” Leeann said. “Doctors are currently pulling records from her genetics team and all her medical records from Vanderbilt Hospital from her geneticist team there … to see what test have been done and what further tests can be done to open up her into their study there,” said Sheila Messick. Find more information about upcoming events at the Facebook page Raising Awareness for Skialar. The Messicks are interested in starting a support group for caregivers of special needs children. “Sometimes it feels good to just cry… to just talk to someone who understand the struggle that you go through. It’s something that family members and friends with typical children can’t understand,” Leeann said.