Laurel and Jaron didn’t receive a diagnosis for their son, Shane, until he was 4 years old. Shane is diagnosed with 18 P Deletion.
He Started Missing Milestones
“We assumed he was like any other kid until he started missing some mile markers. We started seeking early intervention, we would ask questions at the doctor and say “so do we need to have him tested for anything?” it was always “no, at this point he’s still doing very well he’s just behind and he is receiving all of the services he’d have otherwise.”
“It wasn’t until this past year that we pursued it a little bit further. We spoke to the pediatrician who said “I think the best person to have you see is Dr. Kurr she’s a neurologist and a genetic specialist.” Laurel recalls.
“Shane Doesn’t Look Anything like You Guys”
That’s what the doctor said when she first walked into the room. Laurel said, “All it took was a simple blood test, a microarray, that took all of 30 seconds to draw his blood. A week later we knew that the reason for some of his funny quirks, his little characteristics that we just thought were compilation of things that make up Shane. They are also things that come as symptoms of his deletion.”
Jaron said, “I was balling and I didn’t even know why, because I already knew he had something. It was just good to finally have an answer. I didn’t think differently of Shane. We waited four years and all of a sudden we have this diagnosis. We thought “what do we have to do, what does this mean with his life going forward?”
Symptoms of 18p
Having a diagnosis means that they now know what to watch for. Shane will visit a variety of specialists annually to track his progress. Jaron provided a list of symptoms Shane has related to 18p deletion.
He said “He has strabismus, which is a lazy eye, we got that corrected when he was 2. So far that surgery has held, so he doesn’t have that anymore. He has mental delays so even though he’s five, he has a cognitive of a two year old. He has a little high blood pressure in his lungs but nothing too much to worry about. Other things that are related to this disorder can be heart problems.
Do they Wish they had Known Earlier?
Laurel tell us, “I feel lucky that we didn’t know, which seems kind of strange. I think with a lot of things it would be important to know right from the get go so that you can prepare for those medical health issues that could come. But in our case, Shane’s just a healthy kid. We got to know him and love him. The only difference is we found out what it was that was helping him to be the person that he is.”
For Laurel and Jaron the most challenging part of Shane’s disability is his difficulty communicating.
The Joy they Have Received
Jaron says, “He’s just a happy kid, he just loves everybody. He’s always hugging everybody, he’ll hug strangers that he doesn’t even know. You’ll just be walking in the store and he’ll just walk up and hug somebody and you’re like “he’s a hugger you know, sorry.” He brings a different kind of need to our family, it’s good for Savannah, our oldest daughter, because she’s the best big sister. She knows you got to take care of him”
They have two other children, Dallin, who is one, and Savannah, who is seven. They’ve found that there’s a been a big enough age difference between Savannah and Shane that Savannah has picked up pretty quickly that although he is five, he’s not like other five-year-olds and you can’t treat him the same way. But you always say “don’t treat him any different, but also do treat him different because they are different.” He does have special needs, they have different needs than other kids, I mean everyone has special needs. It’s really cute to see Savannah as just this prime example of a big sister.”
Advice for Someone who Receives the Same Diagnosis
Laurel tells us, “A cute mom on our tiny little Facebook group for families of children with 18 P deletion, she came new to the group and said, “I just found out the baby I’m expecting has this.” She was kind of in this panicked state and worried about what to expect. I just remember feeling “a baby, you’re having a baby! It’s going to be the best baby and you won’t want to trade it.” Shane’s just always been this sweet little bundle of love, he just likes to hug and snuggle. I’ve always said if I had to duplicate any child, it would probably be Shane, but that doesn’t mean he’s my favorite he’s just so sweet and good.”
Jaron says, “There’s going to be issues, you’re going to have to deal with some stuff, but they are your kid. You’re just going to have to love them and treat them just like you would any other kid. Obviously get them the help that they would need and deserve. Speech therapy, physical therapy and surgeries. We’re lucky with Shane, he doesn’t have a lot of the health issues that come along with 18P but he is more severe with the cognitive and the mental part of it. There’s other kids where cognitively they are almost normal, but they have all the heart surgeries and stuff like that. If you need support get the support that you need. Even if that’s through your family, your friends or doctors. Find doctors that are specialists because there’s not a lot that know a ton about this.”