My name is Lily Jean Wahl and a couple years ago, I was the mother of 6 very healthy children and didn't even have a family doctor because we never needed to go to one. August 2006 Levi was born (an unexpected pregnancy) and our whole life turned upside down. When Levi was born, he had "white stuff" in his mouth, which we assumed was thrush and he had red eyes. He was in the NICU for a couple of days and then I brought him home, thinking things would get to normal. Levi would never want to nurse and of course the "thrush" never got better, no matter what we did to treat it. At 2 weeks old Levi was admitted to the hospital and we were in for 15 days. At that time, he had high calcium levels in his blood that they had to flush out. He had numerous tests done and of course blood tests every day. It was a very stressful time. When Levi came home, he had a NG tube and he has eaten that way ever since, though now he has a mickey button in place and the formula goes into his stomach that way. We have taken Levi to Seattle children's hospital twice to confer with specialists and just recently to Portland. He is registered with the NIH and Dr. Alter's research.
When we were in Seattle in February, the geneticist suspected that Levi may have DC and that is when we got in touch with NIH. Levi had the test done on the telomere length of his DNA and at this point that is normal. So, I was hopeful that this is not what Levi has. But after visiting another geneticist in Portland he truly believes that Levi has DC. We just recently did another test for the DKC1 (mutation) and are waiting for the results of that.
It seems so hard to imagine that our child could have such a rare disease and none of our other children are affected. Right now, Levi's main issues are his eyes, he has very red, irritated watery eyes and he absolutely cannot tolerate direct sunlight. He has oral leukoplakia , which apparently is also in his esophagus. He has persistently small size, weighing only over 12 lbs at 10 months of age and severe acid reflux issues. Despite all this, he is a very happy baby and smiles and is so social. He doesn't like mornings though and mostly sleeps until noon and seems to be very uncomfortable when I do wake him up earlier.
It has been an incredible journey for us, to have a baby and have these problems and then not even know what is wrong and not have a diagnosis. Even at this point, it has not totally been confirmed that Levi has DC. The NIH will be doing testing periodically to monitor him, so I guess time will tell. We go on and we have an incredible network of support but some moments are so hard and so painful. As a mother caring for a child like Levi day after day, I feel blessed but sometimes very lonely. I would love to be in contact with other families who have experienced similar situations.
Lily Jean Wahl
slwahl1@juno.com
