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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, April 3, 2010

A Long Update On Us...

WARNING...This is going to be a very long update. So please feel free to go to get yourself a snack. I will wait on you...
"The sun will come out tomorrow. Bet your bottom dollar that tomorrow there will be sun. Just thinking about tomorrow chases away the cobwebs and the sorrow. Come what may..."           
Ok glad to see that you are back. I hope that my singing didnt frighten you. Lets get started...
Feb. 23rd. Timmy went to UNC for a sleep study. We wont have the results of this sleep study until the day of Timmys surgery on April 8th. I have a suspicion that the results wont be very good because the evening after the sleep study it was discovered that Timmy had drainage from both ears. This is a good indication of an ear infection. On Feb. 25th we took Timmy to see the Pedi and the Pedi diagnosed Timmy with bilateral ear infections. The Pedi Rx 10 days of Omniceph. After the 10 days the medication had absolutely nothing to clear up the ear infections. So we took Timmy back to see the Pedi and sure enough he still had bilateral ear infections. This time the Pedi gave Timmy 2 doses of Rocephin on two consecutive days. This also didnt clear up the ear infections. We once again took Timmy back to see the Pedi and this time he Rx Augimentin for 10 days. This has seemed to have cleared up the ear infections. On April 8th Timmys ENT will be doing surgery to completely close Timmys trach stoma, replace the ear tubes which came out during Timmys month long bout with ear infections and he will be taking a good look at Timmys upper and lower airways to make sure that everything looks good.
On March 3rd. Timmys prosthetic eye came out yet again. And we were unable to get it back in. I feel that not only the build up of scar tissue, but the ear infections had played a small part this time in the prosthetic coming out. During his bout with ear infections Timmy had a lot of yucky yellow-green drainage coming out of both of his eyes. Thank goodness this all cleared up on its own when Timmy was given the antibotics to try to clear up the ear infectins.
On March 18th we took Timmy to see his Orbital Plastic Surgeon. He feels that at this time we still have a chance to possibly get the prosthetic eye to stay in place. He has decided to try a little something different this next time that he takes Timmy into surgery to clear away the scar tissue. In the past hthe surgeon had just been removing the scar tissue from around the upper and lower eyelids in hopes that this would hold the prosthetic eye in place. But Timmy forms scar tissue so fast that the scar tissue just pushes the prosthetic eye out and replacing it is impossible because there is no room in the eye socket because of the scar tissue. The next time Timmy goes into surgery the surgeon will try removing some of the fatty tissue from the eye socket to make room. By removing the fatty tissue this will create depth in the eye socket and hopefully give the prosthetic eye a place to settle into. If this procedure doesnt work, I think we may just call it quits on trying to get prosthetic eyes for Timmy. Like I stated in a previous post, Timmy having eyes or not doesnt change the way we love or care for him. And who really cares what the majority of people think about Timmy not having eyes. Him knowing that his family accepts him just the way that he is is the most important thing.
Floyd and Timmy left for NIH on March 21st, so that Timmy could participate in the WAGR syndrome study that NIH is doing. WAGR syndrome is a syndrome that in some cases has been linked to our particular gene mutation. The 2 most important things that was learned from Timmy's participation in this study are;; The Drs feel that Timmy would make a good candidate for a stem cell transplant. The stem cell transplant could help cure Timmy of his diabetes. Timmys body produces insulin, but somewhere along the way his body doesn't know exactly what to do with the insulin that his pancreas is secreting. The thought is that there is cells in his pancreas that isnt working properly and this is causing Timmy to have diabetes.  The second and most important issue that needs adressing at this time is the enlarged heart and the fact thAT THE BLOOD FLOW INTO tIMMYS LUNGS IS AT 180% AND IT SHOULD BE ONLY 100%. tHE BLOOD FLOW FROM THE LUNGS INTO THE HEART IS NORMAL AS FAR AS THE cARDIOLOGIST COULD TELL ON THE ECHOCARDIOGRAM WHICH WAS PREFORMED. sO WE ARE LOOKING FOR A GOOD pEDS cARDIOLOGIST AT dUKE mEDICAL cENTER. tHE cARDIOLOGIST THAT tIMMY HAS BEEN SEEING JUST DOESNT SEEM VERY CONCERNED ABOUT tIMMY. iN MY OPINION, i FEEL THAT THAT THE cARDIOLOGIST FEELS THAT tIMMYS QUALITY OF LIFE JUST DOESNT MEET HIS EXPECTATIONS. aND IF A MAJOR CARDIO PROBLEM SHOULD ARISE THE cARDIOLOGIST WOULD JUST REFER US TO ANOTHER cARDIOLOGIST ANYWAY.
Im just so happy to have my 2 boys back home. Life without my little Sunshine and morning cup of coffee just depressing and almost unbearable.
We had Timmys IEP meeting on March 8th. Timmy has made great progress this year. He is exploring more using both hands, learning to make choices, using a switch for communication and just loving his classmates and teachers. Even though his progress can only be measured in "inchstones" just to know that he has made these gains is more than anyone would have ever guessed that he would be able to do.
I give 100% of the credit of these small gains to Timmys teacher. She is the most WONDERFUL  person that I have had the opportunity to have met. She really gets to know each of her students. She looks for the most suttle of communication cues like a smile or a giggle which may indicate "yes." She gives each of her students one-on-one quality time for academic learning. I could keep going with all of Timmys teachers good qualities, but Im sure that you get the idea. I have absolutely nothing bad to say about his teacher. Im just so happy that Timmy will have this same teacher for the next 5 years of his elementary school experience
On April 14th Timmy will be having surgery with his Urologist. At this time the Urologist will be circumcising Timmy and descending Timmys testicles. We have been told that this could be a rough surgery for Timmy given his age. We are hopeful that things go well and that he doesnt have much pain. When Timmy has a lot of pain from surgery this causes him to be under a lot of stress. The stress in turn causes Timmys blood glucose levels to rise and sometimes become almost uncontrollable
Now for the update on me....
I had my first anatomic ultrasound on March 1st. Im happy to announce that I am expecting a little BOY!!!! So I guess the unscientific low heartrate indicating a boy, a high heart rate indicating a girl is just that an Old Wives Tell. And the IntelliGender test that I took when I was about 10 weeks was wrong. I took the test just for fun anyway. At the time of the ultrasound I was 17.4 weeks pregnant. The baby measured right on target and weighed 7oz. His brain looked remarkable and everything else looked good as well. The only thing that was seen that is concerning is a bright spot on the babys heart. This echogenic foci is a marker for Down Syndrome. All of my other prenatal testing for chromosonal defects have come back normal. My Genetic Counselor informed us not to stress out and worry too much about this. She indicated that this same marker is seen a lot without the baby being born with Downs. I was offered the opportunity of an amniocentesis to confirm the possibility of Downs, but I declined. Having the results confirmed will not change anything with this pregnancy. Once the baby is born a simple test can be preformed to confirm the results of Downs if necessary. In my opinion there isnt any reason to chance an amniocentesis which could pose problems with the pregnancy. Having another child with Downs and special needs will only add challenge to our lives. We will love and care for this baby just as much as we do Timmy either way, with or without Downs. My next ultrasound is scheduled for April 19th at which time I will be 24 weeks. The ultrasound tech will be doing another full anatomic scan.
I have saved the worst news for last in this update. On Feb. 27th my Keraprosthesis failed. When I went to bed the night before everything seemed fine. When I awoke at about 6AM I was unable to see anything. I had to have emergency surgery to try to save my eye. Upon the eye surgeon taking me into surgery it was discovered that when the Keraprosthesis detached it caused a hole in my eye. My optic nerve could be viewed without the special glass and light that the eye Drs use to examine the back of the eye when a patient is in the office. I was told when the optic nerve can be seen with the neaked eye this isnt good. So the surgeon was unable to remove scar tissue or replace the keraprosthesis. The surgeons only option was to use a donor cornea and tissue to repair my eye. Being that the scar tissue wasnt able to be removed it has left me with only light perseption and shadow vision in my left eye. I havent been able to see out of my right eye in many years due to a very mature cataract. It seems as though everytime the Dr. gets my left eye stable enough for us to start to consider operating on my right eye something major happens to my left eye to set surgery on my right eye back.
Thank goodness Floyd was able to get his hands on a full copy of ZoomText, which is a text to speech program. This program cost $1,000. Floyd is still trying to get the program settings correct so that Im able to use the program for reading and writing emails as well as surfing the web.
Not being able to see is very depressing and stressful. I hate not being able to take care of my own needs like check my own blood glucose levels, draw up my own insulin injections or see the colors of my clothes so that I can pick out what I want to wear independantly. I hate not being able to see to care for Timmys medical needs, play games, read books to Emily and write with her or see to read for pleasure. Reading is my life. There isnt anything in my life that I enjoy doing more than being able to read for pleasure or do research on the internet.
It has been almost 6 weeks since my eye emergency and Im starting to find it harder and harder each day not to sink deeper and deeper into depression. I try to think of and find something positive about this situation, but staying focused gets harder with each passing day. If it wasnt for Floyd who has been my shoulder to cry on, my sounding block when I feel so frustrated and just vent and my rock, I dont think I would have been strong enough to make it this past 6 weeks alone.
I had an appointment with my Cornea Specialist on April 1st. we discussed the possibility of her doing another keraprosthesis a few weekes before the baby arrives. She stated that being eye surgery is considered an elective surgery, she wasnt certain if the anesthesiologist and the other team members would agree to letting me undergo an elective surgery while pregnant. She agreed to speak with everyone to see what she could do. My next appoointment is scheduled for May 13th hopefully by this time she will have had a chance to speak with everyone and have an answer.
The hardest part about not being able to see is knowing that if surgery isnt possible before the baby arrives I will not be able to see his sweet face upon his birth and Im doubting my ability to be able to care for a lot of his needs.
Life is so unfair! People have told me that everything in our lives happens for a reason, but for the life of me I cant see or figure out the reason for this happening to me at this time. Pregnancy is suppose to be a happy time in a womans life, but for me it has been filled with sadness, depression and stressful.
Ok I have to move on before I find myself getting to emotional. So on a happier note to end this post. I have chosen a name for our little guy. His first name will be Nathaniel. I cant decide on his middle name. The 2 names that Im considering are Ryan or Joseph. Which do you like the best?
Nathaniel Ryan
Nathaniel Joseph
Looking for suggestions of other names also.

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