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I am the Momma of 8 children. Seven here on earth and 1 precious little Angel in Heaven. My children range in age from 2 months to 25 years. My 6 year old was born with a laundry list of complex medical conditions. He has Trisomy 21 (Down Syndrome), a rare brain malformation, which resulted from a mutation of the PAX-6 gene, bilateral anophthalmia, which means that he was born without any eyes, so he is totally blind. At the age of 2 1/2 months old he had to have a tracheostomy to help aid in his breathing. He is hearing impaired, with normal hearing in his left ear and has profound deafness in his right. At 3 1/2 years he had surgery to have a Mic-Key button placed in his stomach (feeding Tube), which is mainly used to give him his medications. He also has insulin dependant diabetes and wears an insulin pump, which gives him a continuous dose of insulin. Even with his many dis"abilities," including being globally developmentally delayed, he has accomplished more than anyone would have ever believed that he could. Join us in our journey living with a Dis"Abled" child....

Sunday, August 16, 2009

We're Back From NIH

Whew, What A Week!!!! I need a vacation now, most definately! I so wish we had taken the 2 days for ourselves AFTER the week of testing. Because I really could use a soak in a hot tub and a long relaxing swim in pool.....
We spent Saturday sight seeing in D.C. We love to vacation in D.C. because all of the museums are free, the transportation is easily accessable and there is always something fun to do there. I finally got to go tour the Batanical Gardens. I wish I had a green thumb and could grow plants and flowers that beautiful. I love to look at and smell beautiful flowers. I like flowers the best though IF they are not picked. It makes me so sad when something so beautiful dies.
Hubby has laid claim to one of the fur trees outside of the Batanical Gardens as "His" Christmas Tree. Doesn't hurt to dream does it? I have to admit it is a perfectly shaped tree.

We also picked up the kids a little something. We bought Emily an astronaut barbie, Timmy a set of magnetic blocks and Zach a brain teaser puzzle, which my little genius solved within a few minutes of opening the box. I'm still working on the puzzles solution. This isn't surprising, I still haven't figured out the solution to the Rubix Cube yet either.

Our visit to NIH, aside from the stress of all of the testing, was very pleasant. All of the Doctors, nurses, techs who preformed some of the tests, the volunteers and other staff members at NIH were very friendly and helpful. The food was DELICIOUS! We were able to choose from a menu full of a variety of foods, desserts and drinks. Unlike a typical hospital menu, from which you may have 2 main dishes to choose from at each meal. I do have to say though, compared to our previous stay at the Children's Inn in December 2008, the staff and other families are friendly and the place is full of noise and activities. The staff at the Family Lodge aren't as friendly and the Lodge is very dimly lit and quiet, like walking into a funeral home of sorts. The rooms and the rest of the building were clean, so I guess that is what is most important anyway.

We were invited to participate in the WAGR research project being conducted by Dr. Joan Han. Being that all of us have a mutation of the PAX-6 gene, Dr. Han felt that we would make good study candidates. To learn more about WAGR syndrome you can go here

Our week started out on Monday morning at 7:00am. Upon admission to the Clinical Center, we each had our vital signs taken, height and weight obtained, a visit from Dr. Han, at which time a medical history was given to her. Now let the week long testing begin! Monday was a pretty easy day when it came to testing. We both had completed all of our testing for the day by 3:30pm. Testing for the rest of the week lasted until sometimes as late as 5:30pm.
Here is a list of some of the tests that I had preformed;
*Brain/Orbits MRI
*Heart/Abdominal MRI
*DEXA Scan-This is a type of X-ray, which measures the amount of body fat, muscle, bone and compares the numbers.
*A 3 Ophthalmology visit
*A 4 hour Audiology visit (I definately have no problems hearing!)
*Smell Testing- A Scratch-N-Sniff test, where we had to scratch a square and choose from 1 of 4 choices as to what we thought the smell was.
*Sensory Testing-A test to determine how well our nerves in our hands can detect extreme hot, extreme cold and vibration.
Nerve conduction Test.
*Sleep Study (How anyone sleeps comfortable hooked up to all of those wires is beyond me! I sure as heck couldn't.)
*Glucose Tolerance Test- A test used to screen for Diabetes
*Resting Metabolic Rate Test-A plastic helment was placed over our head and our breath was captured and analyzed.
*Nutrition Consultation
*Neurology Consultation
*NeuroPsychological Evaluation
*One day for lunch I had to go into a room by myself where there was a buffet aray set up and eat foods of my choice from what was there until I was full. The foods consisted of sandwich makings (ham, turkey, cheese, peanut butter, jelly, lettuce, tomato, condiments), assortment of chips, assortment of fruits, cookies, candy, chicken nuggets, milk, apple juice and water. Probably a few other foods, but I've forgotten. I typically don't eat breakfast or lunch. So one can guess how my part of the meal buffet aray went.
*I had to drink some special water called "Heavy Water" This water cost $400 for 8oz! Yeah, you read that correctly. The water tasted like I had been sucking on a Band-Aid for hours. Yuck! The purpose of this test was to check something to do with energy.
*I had ALOT and I mean ALOT of blood taken to analyzed for specific tests
*I spent 2 entire days peeing in a gallon jug. That was really fun! Yeah right! The urine was also gathered to be tested for specific tests.
*There were a couple of other times in which I had to drink some very yucky stuff (can't remember what the specific test was, but after drinking the yucky stuff, blood and urine samples were collected for testing.)
*Vital signs, including height and weight were obtained every morning.
If there were anymore tests I can't remember, I was rendered brain dead after the 4 hour Audiology visit.
The results to the tests weren't back upon time for us to be discharged from the Clinical Center. Once Dr. Han receives the test results she will pass them on to us.
We are now in the process of making plans for Timmy's visit to NIH in mid November. Looking forward to the visit/

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