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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....

Wednesday, December 24, 2008

What A Week!

Wow, What A Week!

I would first like to take a moment to Thank the staff and volunteers of the Children's Inn, for making our stay such a pleasant one. The little trinkets that are left in the family's mailboxes each day for the children are very much appreciated. It is a good way to let the kids know that someone else is thinking of them and that someone else cares. The highlight of Timmy's stay was being able to see Santa and have hands on time with a police motorcycle. This is a memory that you helped create, which we will never forget. THANK YOU!

Thank You to Ziggy (Joan) for putting up with our many phone calls with numerous questions, for putting the financial assistance into place, which made this trip possible for us, getting our schedules for the week together ahead of time, our travel arrangements in place and just for helping to make things go as smoothly as they did. Also a BIG Thank You to Dr. Muenke, Dr. Hadley and "Doogie Houser" (Sorry I can't remember your real name) He is from South America/Columbia. And he is 19 years old. He will be returning to South America in Janurary to get his medical liscense and Dr. Solomon. Thank You to all for taking the time to talk to us and explain things and for answering my many questions to the best of your ability. It was truly a pleasre to have had the chance to meet all of you. Oh yeah, Dr. Muenke and Dr. Solomon, I have MORE questions. So here soon I will be typing up an e-mail or giving you a call. Dr. Solomon, I promise NOT to call your cell or home phone at 3am!

On Monday Timmy had an echocardiogram. Structurally the heart looks great, except for a slight enlargement in one of the ventricals in the right side of the heart. We were told that this shouldn't pose a problem, but to follow up with a cardiologist sometime in the futue, so that he can keep an eye on things.

On Tuesday we all had appointments with the genetic eye Doctor. Dr. Brookes felt that I should be seen by Dr. Holland in Ohio before going through with the cornea transplant surgery at Duke. I feel that with our finances like they are, it will be ok to have the second choice of Doctors do the surgery. We also found out that Floyd "may" have a rare type of Aniridia, a maturing cataract on his right eye which needs to be removed and a premature size cornea and lens in his right eye. Dr Brookes and several other Doctors are consulting. They may be doing eye surgery on Floyd in the near future to remove the cataract and replace the cornea and lens in his right eye. Floyd was given a prescription for a pair of glasses which does not have the myopic disc, for him to try before his surgery. The glasses can be purchased online for less than $100. We also had medical photography taken, which will be used to look for similarities in appearances in people with cases like ours. We all had our blood brawn again for future use if necessary.

On Wednesday Timmy had OT (Occupational Therapy), PT (Physical Therapy) and Rehab Medicine consults. OT felt that it would be in Timmy's best interest if we could get the home OT and school OT to communicate, so that everyone is on the same page. She also felt that the activities that we have been working on with Timmy are the correct ones. And we need to work more on trying to get Timmy to reach out for things and to do more exploring of his surroundings. PT was amazed at Timmy's physical abilities. Timmy is able to sit unsupported for up to 10 minutes. He can hold himself on hands and knees for 3 seconds. He can roll from his back to his stomach. He can go from sit to stnad with some assistance. He can stand with moderate support. She suggested that we continue doing all of the same exercises with Timmy. She also suggested that we not use the stander as much, but rather stand him up at a table or the sofa and help him side step along the edge. She feels that Timmy has a lot of potential and may someday, with continued help learn to walk, even with the aid of a walker. Rehab Medicine Doctor gave us some information on a local Rehab Doctor to follow up with locally. We will do this after the holidays. He was also impressed at Timmy's physical abilities. We saw Endocrinology today. We were told that the cause of Timmy's diabetes is unknown. There are a few genes associated with diabetes that they will be testing Timmy's blood for. We were told that there may be a possibility that in the future Timmy may not need any insulin, if what they suspect is going on is true. I'm definately not holding my breathe on this one! We mentioned what we have observed in regards to when we give Timmy large amounts of protein in a meal and how his blood glucose levels go up. Compared to when Timmy is hiven a meal with a lot of carbs and treated with insulin approperately and his blood glucose levels are normal the next time they are checked. The Endocrinologist didn't have an explaination as to why this happens, but she did find it very interesting. She was also amazed at just how well we manage Timmy's blood glucose levels and keep them within normal range. We were so happy to have had the opportunity to speak with a nutritionist. We have consulted a couple local ones and have been told that Timmy is underweight and short or overweight for his height. The nutritionist was nice enough to answer all of our questions and address our concerns. The nutritionist and Endocrinologist consulted together and they both came to the same conclusion. TIMMY IS PERFECT for his weight and height! Yes, Timmy is small for his age, but when plotted on a growth chart, his BMI (Body Mass Index) is right in the middle of the chart. We were told that Timmy needs no more than 850-1,000 calories a day. And that us giving Timmy Enfamil baby formula on the days that we travel out of town to Doctor visits is perfectly ok. The nutritionist pointed out that no one eats a well balanced diet every single day. She felt that what we were feeding Timmy is perfectly ok.

On Thursday Timmy had ST (Speech Therapy) consult. The Speech Therapist feels that we need to stop focusing so much on feeding Timmy and trying to get him to chew. She feels that being Timmy is verbal, we should be working more on him saying words, recognizing objects and different communication skills. She also recommended that we check with our ENT (Ear Nose Throat) Doctor or Audiologist about a FM Trainer for Timmy. The FM Trainer would help enhance sounds, so that Timmy can hear them better. We mentioned that we have been working with Timmy on drinking from a cup, but haven't been able to find a cup with large enough handles for Timmy to grasp. The ST gave us a cup for Timmy that works great! The ST made Timmy mad though when she placed small pieces of fruit loops and peanut butter into his mouth. It took HOURS before he would speak to anyone! Later in the day Timmy had an abdomenal ultrasound. Everything looked great. There were no abnormalities seen. Even the thought that Timmy's diabetes may be due to a malformed pancreas was unfounded. Timmy's pancreas, the part that could be viewed via ultrasound, looked normal. Timmy had a visit with Neurology today as well. The Neurologist pointed out that Timmy's brain malformation did not fit into any of the 4 classifications of Holoprosencephaly. At this point there is no proper name for Timmy's brain condition. As for "How" Timmy is able to do the things that he does, they are unsure. Whether Timmy uses deep brain structures to do the things that he does, no one really knows. The Neurologist wasn't able to explain "why" Timmy doesn't have DI (Diabetes Insipidus) This is a form a diabetes which affects the sodium levels in the body. Or why Timmy doesn't have a seizure disorder due to his brain malformation. We were told that it is still possible for Timmy to develop a seizure disorder, but being that he hasn't had any seizures to this point, the likelyhood is slim.

Thursday's Final Wrap-Up Meeting. What we have learned.....
*Timmy is 1 in a Billion. There are no other documented cases of children who have a brain malformation similar to that of Timmy's as well as Down Syndrome. The documented cases that are on record, those children didn't survive to birth.
*Timmy DOES NOT have Holoprosencephaly. For lack of a name we call his condition "Timmy"prosencephaly. We all have tested Negative for all of the known gene mutations found so far to be associated with Holoprosencephaly.
*There may be a genetic link to Timmy's condition. The Geneticist feel that Timmy's condition is linked to the PAX6 gene. Which until this point has not been found to be linked to any brain malformations. IF it isn't the PAX6 gene, which causes Timmy's condition, they will be looking at other Autosomal Domenant and Recessive genes or a X-Linked gene possibilities.
*Timmy's abdomenal organs look normal from what they could tell via ulrasound. Even his kidney's which were in question before his birth and for a couple of years after his birth.
*Timmy's Echocardiogram looks great, except for the slight enlargement in one of the right ventricals of the heart.
*Timmy's diabetes may be due to a gene defect.
*Timmy's PT, OT, ST are working on the approperate things to help Timmy in his continued development.

The most interesting thing that I learned.....

Did you know that blood can be grown???? Once a lab has a sample of your blood, they should not need any more blood for future testing. Why? Because they can grow more samples if they need more of your blood. How is this done? The simple way that it was explained to me is...They take a small sample of blood. Wash the blood 10 times, leaving behind only the white blood cells. They then introduce the EB virus into the white blood cells, which in turn makes the white blood cells multiply. Hence Blood Is Being Grown! This blood CAN NOT be re-interduced into the body, because it would cause the person to develop cancer, due to the EB virus. Interesting Huh?

The explaination of "How" gene mutations happen was explained in simple terms. Think of a ruler. Each number on the ruler is a gene. If your ruler has the numbers 1-12 and the number 4 is removed from the ruler, this causes a defect in the ruler and the way that you would be able to do any measuring with it. Thus with real genes, with such a small defect, one may not notice any problems with an individual or only mild problems may be seen. Take that same ruler, remove the number 8. The problems in an individual are more noticable and/or severe. Why? Because when only the numbers 1-2 were removed only a small section of the ruler was missing. Now that a larger portion of the ruler is missing, less can be done when trying to use the ruler. Now think of that same ruler. Remove the number 7, but leave the numbers 1-6 in their proper place and the numbers 8-12 in their proper place. By removing the number 7 you have created a defect in the ruler and the numbers no longer line up correctly. Which causes the number that come after the number 7 to fall out of place. When this occurs in a real gene, the genes that follow the missing or damaged gene may be affected in some way causing a person to have known problems. How mild or severe the problems depends on the affected gene and where along the line the defect occurs.

Ok, Science class is now over......

We now have surgery dates for Timmy. His 1st. Surgery to re-open his nasal passages and remove his tonsils will be on March 19th. The 2nd surgery will be on April 16th at which time Timmy will have his adnoids removed and his airway just above his trach lasered to remove lesions. The 3rd surgery will be on April 23rd. at which time the Doc will just be loooking to make sure eveything looks good before he tries to remove Timmy's trach.

I have an eye Doc appointment at Duke Eye Center on Jan. 5th. with pre-op on the same day. Sometime within the month of Jan. I will be having surgery to replace my cornea and lens in my left eye.

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