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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....

Saturday, May 2, 2009

Update & an invitation

Well, Timmy is 5 days post surgery. He really isn't feeling very well. We took him to the pediatrician on Thursday around noon, because he has this horrible smell coming from his mouth and trach. The smell is worse than what I describe as "garbage truck soup!" (The liquid that seeps from underneath a garbage truck) He really hasn't had an elevated temperature, only sometimes a low grade temperature 100.5 is the highest his temperature has gotten since late Tuesday evening. He also has had LOTS of yellow secretions coming from his nose. These secretions are draining into his mouth and airway. There is some kind of white patch on the back of Timmy's throat and tongue. His blood glucose levels are very high, 300-400mg/dl. Timmy is refusing to eat or drink orally. Thank goodness for the mic-key button, so that we are able to keep him hydrated. He will not swallow his saliva. He just lets it drool out of his mouth or we suction it out for him. Timmy hasn't been verbal. The most we can get out of him is a chuckle now and then.

The Doc took some cultures, but as of mid morning, the results of the cultures have not come back yet. Something is definately going on, but what? It is so not like Timmy not to want to eat/drink, laugh at us, and just want to nap off and on during the day.

We put several calls into Timmy's ENT (Dr. Zdanski), but neither he, a fellow/resident or his nurse who was suppose to have passed on the message in regards to our concerns NEVER called us back. Thank goodness we have Timmy's Endocrinologist (Dr. Ali), who is away attending a conference in Chicago, willing to help walk us through all of Timmy's high blood glucose issues. In my opinion, we have been giving Timmy an EXTREMELY large amount of insulin to cover his food carbohydrates and his blood glucose highs, sometimes up to almost 4.5u just to cover his carbs, where typically Timmy would receive about half of this amount.

I hate this "wait and see what grows" game we are playing. Yes, Timmy is on an antibotic (amoxil), which was prescribed as a preventive after his surgery on Monday. And Dr. Taylor, the pediatrician started him on Tamiflu, just in case we may be dealing with a flu bug. But in my opinion, the Amoxil isn't a broad spectrum antibotic and if something is brewing, we may not catch it in time, before Timmy gets REALLY sick! Hopefully even though tomorrow is Sunday, we will be able to find out the results of the cultures. You would think that after 72 hours, if there is anything growing there would be some kind of results..?

I just HATE to see Timmy looking so sickly. I miss his smile and hearing is contageous laughter! Come on "Mr. Chuckles" feel better soon! Your yuppie yougart is awaiting you!

Now, for some uplifting news......

We all have been invited back to NIH (National Institute of Health). They are doing clinical research on WAGR Syndrome and Other 11p Contiguous Gene Deletions: Clinical Characterization and Correlation with Genotype, in order to learn more about WAGR syndrome. They are hopeful that what they learn from this research, they will have a better understanding and will be able to provide better care for people with this condition. They need to study children and adults with aniridia to compare with children and adults who have WAGR syndrome. Being that we will be participating is a research project, all of our travel expenses, food and lodging will be paid for through federal grant money. So in a way, a free vacation for the family..... Hopefully the weather will be very nice and we will be able to find some time for sight seeing, this time.

Our family will be splitting up our part in the research project. Floyd and I will be attending NIH and taking part in the research project August 8th.-15th. We will return September 27th.-October 3rd, with Timmy, so that he can participate. We felt that this would work out better for our family, being that all of these test are pretty extensive. We will need to be able to focus all of our attention on Timmy so that we will be able to manage his diabetes. By splitting up the sessions, we will be able to guide the researchers in ways to adapt some of the tests so that they will be able to get a larger study from Timmy's part in the research. Here is a list of "some" of the tests that we will be asked to participate in.

In the first part of the study:
We will ask you and your parent about your health. We will also ask your regular doctors for records about your health. A doctor or a nurse will look at you and make some measurements.
*We will need to take some of your blood for our study. We will use the blood to study things that may affect your health. We will also use your blood to study your genes.
*We will ask you to give us a small amount of urine in a cup. We measure things in the urine that may affect your health.
*Your heartbeat will be measured by an EKG.

*Before arriving we will have to write down everything that we eat and drink for three days.
*The amount of water in our body will be measured by putting sticky patches, called electrodes, on your hand and foot and attaching wires to the electrodes.
*We will ask you to sit inside an egg-shaped capsule called a Bod Pod for a few minutes. The Bod Pod is a way of looking at your body shape.
*We will have an x-ray test, called a DEXA. This x-ray will take pictures of the muscle, bone, and fat in your body.
*We will have a MRI of our head and abdomen.
* We will have a resting metabolic rate test. A clear plastic helmet will be placed over our head and we will have to breathe normally for about 30 minutes.
*An IV will be placed in our arm and take a blood sample from the IV. After that, we will be given a shake to drink for breakfast. After we drink the shake, the nurse will draw blood several times from the IV for the next 3 hours.
*For lunch one day, we will go in a room with a buffet of different foods. We will be able to eat as much as we want of any of the foods and should eat until we are no longer hungry.
One morning, while we are fasting, A nurse will put a second IV in our arm and add some sugar to our blood. Afterwards, the nurse will take blood samples from the IV for the next 3 hours.
*We will have to put all of our urine into a special bag for 2 days while we are staying at NIH.
*Several times while we are staying at the NIH, we will be asked to put a piece of cotton in our mouth for two minutes. The cotton collects our saliva.
*We will be asked to do some tests where a small black box is put on our arm. The box will get hot or cold, and we will be asked to tell or press a button when you feel cold or hot and when it hurts. When it hurts, we will be asked to tell how much it hurts.
*We will be asked to do a test where we put our hand on a box that has a vibrating piece and tell when we can feel it buzzing.
*We will be asked to put our hand in a bucket of cold water and leave it in the bucket for as long as we can. While we have our hand in the water, we will be asked to tell if our hand hurts and how much it hurts.
*For one test, we will be given a booklet that has papers for us to scratch and then smell (like a scratch-and-sniff sticker). After we smell each paper, we will tell what it smelled like.
*We will be asked to taste several types of pudding and milk and to tell how much you like how they taste.
*We will have a visit with an eye doctor.
*We will be asked to wear headphones and respond to sounds you hear. We will have small metal disks, called electrodes, placed on our head and we will have to listen to more sounds.
*We will be asked to do some tests where electrodes will be placed on our arms and legs. A little bit of electricity will be run through our arm or leg to test our muscles. We will also have an EEG.
*We will meet with researchers and answer some questions to find out how we feel about ourself, and what our life is like. We may also be asked to answer questions using pencil and paper or do tasks with blocks or other objects.
*We will be asked to drink some special water, called "heavy water." It does not taste different from regular water. Seven days later, we will be asked give to provide some urine samples.

Sounds very interesting to me. I'm really looking forward to our visit and possible pow-wow with Dr. Muneke, Dr. Solomon and Dr. Hadley again. I have eye sight now. You guys are in real trouble! Let the question and answer sessions begin...

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