Thomas was born Sept. 12, 2001. He was 5 lb. 13 oz. and 17" long. Thomas spent 11 days in the NICU. In the beginning, it was because of "underdeveloped genitalia" but they ended up keeping him there for longer because he was not eating very well and was loosing quite a bit of weight. He almost dipped below the 5 pound mark! But, with the help of an OT, he mastered sucking and swallowing. Thomas was diagnosed with 49, XXXXY Syndrome at 6 days of age.
After leaving the NICU, we were set up with a bunch of doctors for follow up appointments: audiology because he was failing the hearing tests because of fluid in his ear canals; cardiology for small heart murmur; endocrinology and urology for obvious reasons; occupational therapy and physical therapy for his muscle tone issues; and of course his pediatrician!
Thomas has always been a really alert baby! He held his head up and had wonderful neck control right away. When I got to hold him for the first time, my husband and I were amazed at how strong his neck was! Other things took a bit longer. Thomas never took to me to get breast milk directly. I did pump for 12 weeks, tho. He sat and rolled at 8 months. He actually learned to sit before he learned to roll! I started feeding him solids at 4 months, which he ate, but only a few bites. Through almost a year of struggling with solids, he has learned to eat! It seemed like it happened overnight! Thomas now eats entire "stage 3" (6 oz.) jars of baby food! We could not be more proud. He is only eating the food off of a spoon that we feed to him, tho. He doesn't feed himself. He also doesn't chew his food. If the food is chunky (like the large baby food jars), he swallows it without chewing. Sometimes it it is too chunky, he gags on it and the throws up his meal.
Thomas has been in the -5% his entire life for weight, head circumference, and height; although he did jump up to the +3%, then back down to the -3%. He is continuing to gain weight, so we are not too worried.
Our next concern is to think about surgery to expose his "buried" penis. When we had our first appointment with Endocrinology, they told us (and this is a quote), "...maybe you should not think about doing it. He can just learn to go to the bathroom sitting down. He is not going to know he is different anyway." I was furious leaving that appointment. Thomas isn't going to be treated any different just because of his chromosomes. If he was XY, and was born with a buried penis, no one would think twice of doing the surgery. I have spoke with another family who has gone through it, and they have had wonderful results, which gives us hope.
Thomas is a really happy little man! Most of the time he is smiling or laughing. Thomas has learned to make different noises: "mamamama" and "babababa" and noises with "g"'s in them. For some reason, he stopped making all the sounds except for the "g" ones for about 6 months, but has recently started up again. His therapists say that it is normal for skills go taper off while new ones are acquired, and then resurface later.
Once Thomas turned about 15 months, he acquired so many new skills. Within a 2 month time frame, he learned to go from laying to sitting by himself, play with toys, eat solid foods, crawl, balance on his knees, AND pull to standing. It is just amazing. Once he learned how to crawl, he wanted to explore everything!! Every day we chase him out from behind chairs, the laundry area, everywhere! Just so much fun!!
I am so proud to say that Thomas is walking now! He learned when he was 25 months. He is such a big boy now! At first, different levels scared him, but now he walks all over! He even tramples around in the grass! He has become so much more independent now. It seems that every new skill brings a bit more independence!
Also with his newly found skills, Thomas's personality has really shown through. He loves attention where before he really didn't care either way. He also loves to cuddle, which we think is so neat! Now whenever we say "yeaaaaaaa!" he claps! He is constantly looking for our approval. He is very curious about things and likes to explore. Every day he seems more and more like a toddler!!
We are still working on getting Thomas to hold his sippy cup and feed himself. Although he is eating solid foods off of a spoon (which is wonderful), we worked with him for 12 months for him to finally catch on. Thomas has never been really oral. We have never had to worry about him putting things in his mouth! I remember working with several nipples before he would accept a bottle. Any type of forced things in his mouth, stimulator from his OT, toothbrush, baby cookie, etc., is very obviously refused and quite a battle. He does drink from a sippy cup now - no more bottles. His therapists told us that drinking from a nipple can cause pallet problems in his mouth. He drinks from the Avent one with the rubber spout and now even holds it himself!
Thomas is our first baby, and we are excited to say that our 2nd son, Christopher Michael, was born July 20th, 2003. When Thomas was first diagnosed, we were pretty scared to think about having another. By talking to Genetics, our Pediatrician, family members, and just about everyone else we see, we decided to try for another. We decided against an amnio, but did get an in depth ultrasound.
Christopher and Thomas are so much fun together!! Thomas lays on Christopher and that makes Christopher really mad!! The boys pull all the books off of the bookshelves, and put things in the toilets and play with the pots and pans!!
As each day goes by, we realize that Thomas is totally perfect! He is completely normal to us and to our friends and family!
We are truly blessed to have such a wonderful little person in our family. Thomas brings us so much joy and happiness every day! No matter what our mood, he makes it seem like nothing else matters!
Update (10-18-04):
Thomas is now 3 and doing really well. He is starting to say "na na" for no and "ma ma" for mom and "ba" for ball. We are very excited to see him attempting words! Thomas is learning sign language very well. He picks up on new signs constantly! We are so proud of him. Still in ST and OT, but only see PT every month or so just to follow up. Thomas still is having problems with eating. He is getting much better, but still not chewing his food and still can only tolerate baby food out of a jar. Anything too chunky or hard will make him gag. Also, he isn't feeding himself. Although he is holding his sippy cup - but only laying down. He will not hold it sitting up. His latest thing while eating is for us to do "hand over hand" to hold his spoon so he can help. Who knows - maybe someday in the future he will be feeding himself! As I always say, Thomas is just so amazing. He loves everyone and although there are hard times, there are so many wonderful ones.
Update (09-12-05)
Thomas is 4 years old today and he is doing so great!! He is really picking up on words now! He has about 50 signs that he uses, and now about 30 words. I'm excited to say that he has even made a significant leap with his eating! Just a few days ago he ate a container of pudding feeding himself with only verbal instruction. He is still a little anxious with doing this himself so he is not very consistent, but a little progress is better then no progress! We are very slowly introducing potty training. And it seems to be a long process. But we have patience with him and know he will get it - just like everything else!! Thomas is not enrolled in any school system. As for now, we have no plans to do so. Our intentions are to Home School him. Thomas and Christopher play sweet together. But it seems as though they fight pretty often also!
Update Mar 20, 2006
I can't even begin to say how much Thomas has learned! He has done quite a big along the lines of potty training! His little brother, Christopher, is now 2 1/2 and is doing really well with it, and it seems that is all Thomas needed to grasp it! He still is in a diaper most of the time, but whenever he goes to the potty chair, he uses it! His little brother knows his letters, numbers, shapes and colors, and now Thomas is picking up on them. It seems that since Christopher is taking off in so many areas, Thomas wants to be part of the fun too! Thomas is talking very good and puts 2 - 3 words together quite often. He is very interested in saying new words and when he hears something he isn't familiar with, he tries repeating it. Eating is at a standstill it seems, although there seems to be progress, it is slow progress.
Update (2-11-07)
Thomas is now 5 1/2 years old! He's growing so tall lately! Thomas's biggest achievement is in feeding. He will self feed crackers, french fries, pork rinds (eww!), popcorn, etc, and will actually take a bite and chew it. He will only eat one or two in a sitting - nothing very consistent, but there still is progress none the less! He doesn't spoon feed himself consistently either, but does it every once in a while.
And talking! Even more amazing! Thomas is doing really well with words, in fact, he doesn't even use signs at all. Granted sometimes he is hard to understand, but he will show us what he needs if we can't figure it out. And he is very polite saying "no ta tu" (no thank you) and "yu peeee" (yes please).
Thomas is a BIG help around the house! He loves to help feed the ducks, chickens and turkeys!! Maybe sometimes even a little too much!!! He defiantly loves animals. You can see him in this picture just hanging with the poultry!
Thomas still has things he is working with. Potty training is s l o w l y coming together. It is a long process! But I know that he will get it eventually!
We see PT, OT and ST once a week. They are working on riding a bike, muscle control when jogging, eating and of course making more precise sounds with his voice. His speech therapist continues to be amazed as when he first started seeing Thomas, they rated him as having "profound delays". (who knew there was anything worse then "severe") He didn't even think Thomas would speak at all. WE knew he would talk...in his own time! And sure enough he proved his therapist wrong. He sure has been proving all of his doctors wrong since he
was first diagnosed!
Unfortunately, in the past 2 years, he has been in the hospital 4 times. Twice in the Pediatric ICU. They all have been respiratory related - as seems to effect all of our little 4XY guys. They were, in order, asthma related (for 4 days), RSV (for 6 days), asthma related (3 days) and again, asthma related (5 days). All these started as basic viruses. As you can see by this picture, he really does keep up a positive attitude! He is signing "I love you" with his hand raised in the air.
Thomas is our little super-hero! He is very loving, friendly, sweet and is the best hugger ever.
Story submitted by the.4.kyles@hotmail.com
