Archive for April, 2009

 

 On 9/16/08, we visited the geneticist, Dr. Blackston, in Macon, GA.  I finally received the summary letter on 4/18/09.  It took us over a year to get the appointment, and then when we got there, we had to wait forever.  The Macon Health Dept. is probably one of the most disorganized places I’ve ever seen.  But I was happy to be able to get in to see the doctor there instead of having to drive to Emory University in Atlanta.  Children’s Medical Services always has to scramble a little because we are ”private insurance”.  I make too much money to be eligible for medicare/medicaid, but of course, with no child support, I can’t hardly afford her medical bills.  Go figure.

Anyway, back to the letter.  He confirmed the original diagnosis of Freeman Sheldon Syndrome… “pursed lips giving the whistling face appearance, curved fingers, trigger thumb, and vertical talus, deep set eyes, protruding chin”.  In describing her hands, he noted “camptodactyly of the fingers and curving of the fifth fingers”.  Her legs and feet he noted “overlapping toes, and the right leg is smaller with the vertical talus”.  He also confirmed the shoulder tightness as ”scapular(?)__smal glenoid”, which had been diagnosed previously with x-rays as glenoid hypoplasia.   He also examined the repaired cleft palate and described as “she has had tight or mask-like facies, small ala nasale, and a high palate”.  He agreed she has the “classic features” of FSS.

Dr. Blackston described her as an “attractive, intelligent young lady”,  “neurologically intact and with good cognition”.  He also emphasized to us that this is a dominantly inherited syndrome (there are no instances of FSS in our family), and there is a 50% risk of transmitting it to her children.  I advised Dr. Blackston during our visit that a new gene had been discovered and gene testing is available by DNA analysis.  The nurse added a handwritten note to the letter that there are currently only 2 labs in  Germany that can conduct the tests.

Dr. Blackston wishes to follow up on a yearly basis, and to do the DNA testing, if possible, recommends she continue with her therapies, and to see the orthopedic specialist.

Nothing really new in the letter.  In fact, I probably knew just as much about it as he did.  He was impressed with my use of the terminology (such as glenoid hypoplasia) and that I was informed on the aspects of the syndrome.  During the exam, he did tell us that he did have several patients with the syndrome.  He referred us to the Parent to Parent of Georgia to find support, but so far, I haven’t had any success with finding anyone in the support group.

We don’t have an appointment with the orthopedic doctor yet.  I’m a little concerned that her right foot is turning in at the toes.

Otherwise, all is well.

 

Current Mood: Happy

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Last night, we started working on a flower garden.

She is very proud of the job she did. And so am I.

 The reason why it’s all in pots is because when it rains, this area gets a little soggy.  But it’s the best spot in the yard to put the birdfeeder.  The view is best from the back porch and from the “sofa” swing a little further to the right.

We had a good time putting it all together, although we did get eat up by the mosquitos.  I used “Cutter”, and for the most part, it worked, but it wore off right at the last little bit.  Probably lasted about 4 or 5 hours.

Current Mood: Happy

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I was finally able to buy a swingset for Leah. She has always loved to slide and swing, but I think she has difficulty on the playground with other kids.

It’s not even finished yet, and her and the bunnies have already taken over.

Here we are, goofing off, while we are waiting for the swing to be finished.

She is so excited that she can swing by herself. I think the swings at school are too high for her to push herself with her feet.

Join the 5 Minutes for Mom Kaboom Team.  Don’t know what it is?  Click here to find out.

 See my other blog for a different post abaout the swing set.

Current Mood: Happy

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 Last night, Leah came up to me and told me she lost another tooth.  This is the 2nd one, and we can’t find it anywhere.  She must be swallowing them.

 We never could get a good pic of it.  But, I did notice that another tooth is coming in where the first one fell out.

Current Mood: Happy

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 She looked so adorable in her pretty red dress this morning, I just had to take a photo of her.

I love it when she smiles so pretty.

 

Then of course, to get the pics I wanted, I had to promise to take pics of her and her pink bunny.

Current Mood: Happy

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A new easel has arrived for the “artist”.  She doesn’t look too thrilled in the first picture, but in reality she really was jumping all over when she came home from school and saw it sitting in the living room.

Click here to view other Magic Marker Monday participants, written by Michelle @ In the Life of a Child, hosted by 5 Minutes for Special Needs.

Current Mood: Happy

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Today we went to the Dogwood Festival. It was much smaller than the Mossy Creek Festival we went to yesterday, but it was just an enjoyable afternoon out.

It sprinkled a few raindrops on us and I was afraid we were going to have to leave when we had just arrived, but it passed on over very quickly, and we hardly got wet at all. Leah went on the inflatables, but they were expensive. $5 for the big slide, and you only got to go down 4 times, and the big crawl through inflatable was $3 for 2 times going through.

Leah got to ride a pony this time. This was worth the trip out there, I think.

Current Mood: Happy

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 Today, we went to the Mossy Creek Barnyard Festival.

Arts & crafts vendors from all over come to show and sell their wares, and people from all over come to look at their wares.

There are lots of activities for children.

This was a great dane from the animal shelter. Leah is in the pink on the left. The little girl next to her is from her preschool class. We happened to bump into them while we were walking around.

Leah rode the hayride by herself. She enjoyed it. This was at the beginning of the ride and I interrupted her chatter by calling her name to look at me so I could take the picture.

Leah’s preschool friend asked her to come sit with her and watch the cloggers/tap dancers, and then they were invited on the stage to learn a few steps.

Then we headed on over to the petting zoo. Last year, Leah rode a horse by herself and she couldn’t wait to ride the horses again. The guy remembered her from last year. The horse’s name was Phoenix. Leah rides up there almost lilke a natural.

Next was to feed the goats and the bunnies. They weren’t real interested, and the bunnies were kinda dirty.

She wanted to hold the bunny, but as soon as I put it in her arms, the bunny’s legs started going and she didn’t want to hold them.

The cow was very disinterested in all the proceedings, but the turkey gave a good “gobblin’” show.

The final act was a balloon shape from the magician. “ARGH! ye matey’s!”

 

Current Mood: Happy

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 Leah Rose’s teacher called me today.  She said Leah had an accident while they were playing.  Leah bumped into another child while climbing out of a playhouse and her glasses got knocked around.  At first, the teacher didn’t notice anything, but a few minutes later, she saw a red spot and a bump.  So they put ice on it.  It was very nice of her to call and let me know that she was all right.

It actually looks worse than she described.  How in the world she managed to get a half circle scratch around her eye, I’ll never know.

 

Current Mood: Sad

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 ”Oh, I love the bunnies, thank you, thank you” 

“And carrots, to feed the bunnies”

Easter Egg Hunt, anyone?

 

 Yesterday, we stopped by a friend’s house after we left my aunt’s.  My friend has a 7 year old nephew, named Michael.  Leah and Michael fell in love with each other, I think.  They had the best time playing together and when it came time for us to leave, I had a hard time getting her to leave.  She didn’t cry, but it was obvious she wanted to stay.  I had to be the bad guy, of course, and say it’s “time to go”.  But we did get an invite to come back today for Easter dinner.  They had the best time playing together, hunting Easter eggs, and drawing and writing, and playing video games.

Aren’t they adorable?

Of course, one final pose for the day…

 

 

Current Mood: Happy

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