Joshua's Story

Our only child, our son, Joshua, was born on October 24, 2000. He was born 1 month premature and was 3 pounds, 15 ounces. After 18 days in the NICU, he came home. Joshua was diagnosed with 49XXXXY on October 31, 2000. Where to begin?

My husband and I were overwhelmed by the lack of current information regarding the diagnosis, and even more afraid of what those articles from the 1980's said about what to expect. With these kids, it seems like there is very little that is common across the diagnosis besides the vague diagnosis of "low tone." If we had known on that Halloween night what we know now, we could have slept a lot better, worried a lot less and learned to see Josh sooner instead of the diagnosis. But, we are thrilled to say that things couldn't be better.

Josh is 19 months old and can walk, although he is a very, very cautious soul and only did so independently once in a great while for about the first three months of his walking life. He started walking at about 16 months. It was like that when he crawled, too. He KNEW how to crawl at six months, but didn't actually do it for mobility until he was 9 months old. However, we have learned that with Josh, practice makes perfect. He needs a lot of time to practice any new skill he is mastering, so we spent DAYS walking the halls of museums, stores or even bike paths, now that it's nicer, with his little "old man walker" that he used for support before he learned that it was something that could be useful for him. He was born with a cleft palette which was repaired in January, so his speech is our major concern. However, he does know nine signs (doggie, cup, want, all done, more, bird, help, thank you and telephone) as well as yes and no nods and we are practicing total communication. Since he has picked up on the sign language, his speech therapist is optimistic since sign language and voice language both come from the same part of the brain.

He knows how to snap his fingers! After this recent accomplishment, his Occupational Therapist seems to think he could teach some three year olds a thing or two. He has braces on his legs that we LOVE since it gives him the support that he needs to be confident walking. He seems to be more aware every day of what he can and cannot do, and he is growing frustrated in the stuff he can't - for example, blowing bubbles with a straw for the speech therapist. So, he has a little temper, but it only comes out every once in a while. We've really found that most of the stuff that is written in articles or has been told to us by geneticists has not been applicable to Josh.

But most importantly, Josh is FUNNY. He's a real sweet heart, just as easy going as can be, but just has the sweetest since of humor you could ever find in a boy. Not only does he crack himself up every time he does something, especially if he sees himself do it in the mirror, but almost everything around him is funny, too. Squirrels climbing in the trees (although right now the actually TREES are scary to him - go figure), trucks driving down the street, daddy's coffee cup - all funny. In fact, it's this humor that has just emerged in the past few months that encouraged us to enroll him in a "typical" preschool. While we struggled with the idea that he may not get all of his needs met, his physical, occupational and speech therapist all agreed and encouraged us to put him in a "regular" setting so that Josh can be around a peer group that he can work towards. He starts in September, hopefully - he's on the waiting list of an excellent program here. I'll keep you posted as to how it goes.

At the risk of sounding like a broken record, if we had known how great Josh was going to be doing, we would have never spent all those nights crying ourselves to sleep. Josh certainly has his challenges, but he is a joy to us and to those around him and he has taught us more than we ever imagined.

Chapter 3

This year has been another "thriller." We spent most of the first half of the year getting Josh fitted for an oral prosthesis to help him learn how to talk. That boy is the toughest kid you will ever meet. He now is the proud owner of a "little helper," which is a giant retainer - type device that fits on the roof of his mouth to make his palette longer. It seems to be working and we think he has a vocabulary of about 500 words. Although we can understand him, most others cannot so we've enrolled him in a wonderful private school that houses both typically developing and special needs children. They follow an "inclusive" model that we are thrilled about, as Josh was starting to get frustrated at his old school, being the only kid who didn't talk. He's smart enough to know that he had to work harder than the other kids, and it was making him mad! Now he has other kids to model, ones that don't have to work as hard as he does, but also kids that have to work even harder than he does, which has taught us that our son is a very empathetic, helpful child who loves to play with all types of children.

Josh also taught us something else this year - he has seizures! We didn't know it, but since he's been hospitalized with pneumonia so many times, the infections spread to his vascular system and his brain, leaving scars as souvenirs of his illnesses. At least that's my theory; this theory is still to be confirmed by our new neurologist friends, but they agree that this seems to be the logical explanation. So, we've got that under control now with anti-seizure medications and once the side effects wore off, he seems no worse for the wear.

So, now we call Josh our "triple threat" - he has the diagnosed chromosomal disorder, a kidney disease called "complement component syndrome" which compromises his immune system and makes him susceptible to pneumonia, and hydro-encephalopathy (I swear I'm going to become a doctor before our son is 18!), which is the scarring on the brain that causes the seizures.

Sometimes I wonder about putting so much information out there because new parents of 49 XXXXY boys might not be ready to hear all this, but we're just so thrilled with his development, his sweet nature and his fun sense of humor, even the scary medical stuff is outweighed by the joys of Josh. And, he blew out his candles this year (for the first time) for his fourth birthday! Nothing could have been sweeter.

Chapter 4

Well, here it is, 2006, and I feel like it’s time to give everyone an update on our Joshy. 2005 was a banner year – Josh only had pneumonia TWICE thanks to a new regimen of steroids that has kept him fairly healthy throughout the year. He now goes to school five days a week and is thriving in the regular schedule. In fact, we wish we had done five days a week sooner. Josh is a very sensitive child, and the regularity of his school day has really brought his personality out. We’ve learned that by keeping a fairly regular schedule at home, too, he’s really thriving.

Josh’s language continues to improve thanks to his “little helper” and the fantastic speech therapy he is receiving through Cardinal Glennon Children’s Hospital. His therapist is wonderful and makes him work hard, and lately we’ve been getting the “b” and “p” along with lots of “f” and “w” sounds. This may not sound like much, but for a kid who was supposed to be nonverbal, he’s showing all those doctor’s who’s boss! He will probably continue to receive outside therapy for as long as our insurance will cover it, because the work they’re doing at the hospital is very specific to his prostheses and we are thrilled.

Everyone in Josh’s classroom now “speaks Josh” and he is regularly understood by his peers. This has made me very optimistic about his moving onto the “Big School.” That’s right….our baby is going to start kindergarten in the fall! He will go to a typical kindergarten that will have three kids with special needs and 17 kids who are typically developing. Ever the stalker mommy, I’ve met the teachers, the principal, the special ed teacher, and just about every other person at the school! Hopefully the transition won’t be too traumatic for Josh (and me!).

Besides that, just a word to any other 49er families out there – if you live in the metro St. Louis or Chicago area, the Belle Center is the school that Josh is at right now and it is WONDERFUL. There’s one in St. Louis and one in Chicago, and I think one somewhere in South Dakota. Anyway, I feel that the Belle Center played such and important role in Josh’s development – he certainly would not be where he is today if he had gone to a different school. We’re going to be sad to leave – if only they had a kindergarten program, too!