LAKE CHARLES, LA (KPLC) - Imagine being the parent of a child with an undiagnosed, potentially life-threatening condition. The search for answers can be an every day mission, as the diagnosis remains a mystery.
Like 68 million other women in the United States, Stephanie Spears is a working mother. But a pregnancy two years ago set her on a path that only about 100 other women in the entire world are traveling.
About 30 weeks into Stephanie's pregnancy, doctors noticed the baby was not growing the way she should. After a few weeks of follow-up ultrasounds to see if the baby had grown, doctors decided it would be in the child's best interest to be born then, at 37 weeks and develop outside of the womb.
On December 1, 2006, Stephanie underwent a c-section and Jalyn was born. "She was born three pounds eight ounces at 37 weeks," says Stephanie. Jalyn was released from the hospital after two weeks, with doctors saying she was healthy. "They didn't inform me of anything, so we just thought she was just small," says Stephanie.
At six months, Jalyn only weighed in at five pounds. Stephanie began seeing geneticists, endocrinologists, and allergy specialists across Louisiana - but, no diagnosis could be found. "As a parent, I just thought someone could tell me, if he didn't know," says Stephanie, "then maybe some other geneticist, some other specialist could inform me of what's going on...but unfortunately they didn't because they didn't know either."
Pediatric Nurse Practitioner Misty Bowman at The Children's Clinic has been seeing Jalyn for about a year now. She has seen her grow - the soon to be two-year-old is now 24 inches tall and weighs 10 1/4 pounds.
Next to her four month old cousin, weighing 14 pounds, it's evident how far Jalyn has fallen behind on the growth curve, raising concerns over potential medical problems. Bowman says, "She may have heart anomalies, heart problems that will develop over time, digestive problems, growth and development problems that maybe if I can catch early won't become a problem for life."
Jalyn's mystery diagnosis has been narrowed down to three main possibilities: Primordial Dwarfism, the most severe form of dwarfism. Dubowitz Syndrome, which has some mental delay associated with it and Pituitary Dwarfism, where there is a growth hormone deficiency. "When we try to diagnose children with genetic disorders or any disorder that we don't know," says Bowman, "we try to fit them into a box. Unfortunately, she did not fit into any sort of box that can help us out."
Jalyn hasn't encountered any major medical issues at this point, so her main obstacle is simply living in a world that is not built for her size. "It's hard," says Stephanie, "but she does everything like an average two-year-old should do as far as being independent and wanting to do everything on her own, but I am concerned about when she attends school, how will we go about doing that, because a lot of things are going to be a physical challenge for her."
Despite her physical challenges and medical uncertainties, Jalyn is a normal, happy two-year-old, surrounded by the love of a supporting family. "I love her to death," says Stephanie, "I'm just glad that she is here, and it can be overwhelming, but she to me is a perfect child."
Stephanie says she will continue searching for Jalyn's diagnosis and hopes that as more awareness is raised on the health issues little people face, more research will be done to improve their quality of life.
*If you're looking for a way to take action after reading Jalyn's story, there are three things you can do: the first is to simply make an effort to treat people that might be physically different from you with respect.
The second action you could take is something that could help Jalyn finally get a diagnosis. Medicaid doesn't cover all of her costs for medical check-ups and visits with specialists, so you can donate to the "Jalyn Seymore" fund at any Capitol One Bank. This will help her and her mother finance traveling out of state - even out of the country in their search for a diagnosis.
Finally, you can educate yourself. We have information on potential diagnoses for Jalyn listed below, as well as links to learn more about the obstacles little people face.
*Click here to learn more about Little People of America. Jalyn and Stephanie have attended one LPA conference and hope to attend more to meet with other little people and learn about the medical conditions that they have faced.
*Jalyn and Stephanie are also members of NORD, National Organization for Rare Disorders. Learn more about this organization through the provided link.