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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....

Friday, March 27, 2009

Change in surgery strategy

Timmy had the 1st of several surgeries that is needed to possible prepare him for having his trach removed.

The original plan was to do a Ph Probe study to check for possible reflux, re-open the nasal passages and remove the tonsils. Dr. Zdanski decided that being that the Ph Probe had to remain in place for 24 hours, that removing the tonsils wasn't in Timmy's best interest at this time. So Timmy had his nasal passages re-opened and the Ph Probe placed. Timmy was hospitalized over night for monitoring.

Timmy faired well from surgery. He had some bleeding from his nose, which is expected. By morning there wasn't any "fresh" blood seen. He required a few doses of Tylenol with codine for pain management. By morning Timmy was all smiles, showing no signs of pain or stress.

I have to send out a "We're Proud of You!' to the student nurse anesthesist that helped to take care of Timmy. I wish I could remember her name. What she did took us all by surprise, that no one caught her name. She came into the room where we were waiting to go back for surgery. She lets us know that the OR was ready for Timmy and that she was going to carry him back. Timmy was sitting in a reclining chair. The student nurse anesthesist gets down to Timmy's level, takes his hands into hers, tells Timmy her name and that she was going to pick him up. Timmy has had MANY doctor visits and hospitalizations and NO OTHER nurse or Doctor had ever taken this approach. I was so impressed that I made sure that she knew that she had done exactly what a blind child or their parent would have expected her to do. Now if her excellent bedside manner were contageous!

Tuesday, March 24, 2009

Genetic Test Results

Well, after 5 years of a misdiagnosis, we finally have a true diagnosis for all of Timmy's medical conditions.

Timmy has inherited 2 mutated genes, one from me and one from his dad. The PAX6 gene is a cause for all of this. The PAX6 gene is linked to aniridia, which is an eye condition where a person is born with partial or absence of the iris (color of the eye). It had also been found to cause central nervous system defects, glucose intolerance, microphthalmia/anophthalmia (being born with small or no eyes) and brain malformations.

For me, the PAX6 gene mutation is found within the R240X link. And for Floyd, the PAX6 gene mutation is found within the R38W link. Timmy inherited both of these 2 mutated genes. All of this gene, chromosome, codon and exon stuff is so confusing to me. So I'm trying to explain this to the best of my ability.

Being that Timmy is the only surviving person with this gene mutation and all of the other associated medical conditions, there is no medical syndrome name been given to the condition. The only other person to have had the same PAX6 gene mutation, but different part of the gene was affected, was a child from Finland. Unfortunately this child did not survive.

I have typed an email to Dr. Ben Solomon, from NIH, to see if possible he might be able to give me more info about the othe child and possibly put us in contact with the other family.

At this point, I have mixed emotions. I feel relieved that we finally know the exact cause of Timmy's medical conditions. But on the other hand I feel alone and scared. There isn't just one place to turn for information or support. There is so little known about this, that the doctors can't even tell us what the future holds for Timmy. As a parent, upon finding out the genetic test results, you start to question whether medically and acedemically if we are doing everything possible and in his best interest to help Timmy? Medically, should we be trying different strategies or should we or should we not be having "x" procedure done? Acedemically, is there a different or better way that we should be teaching Timmy to help him learn? With his therapies, are we pushing him hard enough? Should we be using different techniques to help with his progress in PT, OT, ST? I guess what I'm trying to say is what is the norm for Timmy? Where does he fit in stastically?

Even though I have all of these questions, it isn't going to change the quality or type of care that Timmy receives. Timmy is my life, my sunshine and my morning cup of coffee. Without his smile and laugh every morning, I don't know how I would ever be able to make it through the day!

Also Timmy has pre-op tomorrow with surgery on Thursday, at UNC with Dr. Zdanski (ENT). This surgery is to again repair his coanal atresia and remove his adnoids. This is the first of two surgeries to prepare Timmy for the possibility of having his trach rremoved. During surgery Timmy will also have a PH-probe to see if he is having reflux. In my opinion, Timmy's nissen fundoplication procedure that he had 2 years ago has failed and Timmy is having very mild reflux. Timmy is having all of the classic symptoms that he had 2 years ago before the nissen, drooling, sticking his fingers far back into his mouth, spitting up, and the smell of acid in his drool. Hopefully something good will come out of these procedures.

Tuesday, March 17, 2009

Five Years Ago

Happy St. Patrick's Day!!!

It really doesn't seem like 5 years. But five years ago, to the day, our 4 1/2 month stay in the hospital following Timmy's birth came to an end. Timmy was discharged from the NICU Transition Unit of New Hanover Regional Medical Center at approximately 8:30PM. The hospitals protocol is that every patient whom is discharged, is to be taken downstairs in a wheelchair. We refused to let this happen. I walked into that hospital on October 30th 2003. I walked into that hospital several times a day following my discharge to visit Timmy. So after 4 1/2 months, we were going to walk out of the hospital carrying Timmy in our arms, with our heads held high.

Timmy's surviving the emergency C-Section was a miracle. Him surviving the first critical 72 hours of life, was a miracle. Him overcoming many complex health issues i.e. diagnosed kidney failure, failure to thrive, and being able to breathe without the aide of a ventilator. At about 3 1/2 months, on January 21st. 2004, Timmy was airlifted to Duke University Medical Center. It was at this time that Timmy was given a tracheostomy. We had been told that Timmy would never be able to drink from a bottle, so him feeding from a bottle, and most importantly him surviving to the point of being healthy enough to be able to be discharged from the hospital, was truly a miracle.

The day that Timmy was to be discharged was a very long, trying, stressful, and scary day. We were told early morning that we would be going home very soon. Well as the minutes of the day slowly slipped by it was beginning to seem that our discharge would be postponed yet again for some unkonwn reason. Each time Timmy's Neonatologist passed us in the hallway or would come into Timmy's room he would drill us with different senarios of situation that could possibly happen once we got Timmy home and wanted to know what we would do in each situation. We had been helping the NICU staff take care of Timmy from day one, changing diapers, taking temperatures, bathing him, suction his trach and feeding him. We even had experience with having to change Timmy's trach. In the hospital, a respiratory therapist is suppose to be at the bedside when a baby/child's trach is being changed. Well after Timmy got his trach, when it came time for his trach to be changed, we or the nurses couldn't get a respiratory therapist to come to assist. So dad and I along with a nurse as our backup, changed Timmy's trach.

Most new parents worry about if the baby is too hot/cold, if the car seat is installed properly, how much/how often to feed or if they have all of the necessary needed supplies at home. But we were more worried about if we couold remember how to fill Timmy's portable liquid oxygen tank, how to use/reset his apnea and pulse oximeter monitors, how to figure insulin dosages and how to cope in general once we were on our own, without a Registered nurse only a yell away!

Our first night at home we didn't have any nursing help with Timmy. We were on our own! Neither dad or I slept at all that night. I was up checking on Timmy every few minutes, just to make sure that he was still breathing. I was scared to put my trust solely into the monitor/s alarms to let me know that something was wrong. Besides, I had been taught while Timmy was in the NICU not to solely rely on the alarms. Instead look at Timmy and assess him to see if the monitor alarms are correct.

It took many months before we would even let Timmy's Home Health Nurses do most if not all of his care. I had 4 1/2 months of parenting to make up for and it took me awhile before I felt comfortable placing my son's well being in the hands of a strangeer.

It is hard to believe that when Timmy came home he weighed 7lbs. 2oz. Now he weighs approximately 32lbs. and is approximately 37ins tall!

Even though Timmy has developmental delays, over the past 5 years, he has reached many inchstones, that we were told from the beginning that Timmy would never be able to accomplish. I'm so PROUD of Timmy!

Monday, March 16, 2009

Not having any luck.....

We just aren't having any luck with Timmy being able to keep the comformer(s) in his eyes. Yesterday morning, the comformer that was in his right eye came out. It was a given that this was going to happen though. From day 1 the right eye had been very red, inflammed and swollen. Timmy needing Tylenol with Codine to help ease the pain was another clue. Usually Motrin or Children's Tylenol helps to ease any discomfort. We did everything that we possibly could to prevent this from happeneing. We used warm compresses, cold compresses, we gave him Motrin to try to reduce the swelling and we even used the Tobradex eye ointment 4 times per day instead of the 2 times prescribed to try to help with the inflammation. I'm not sure if the comformer coming out was due to his body being sensitive to the skin glue that was used to hold the comformer in place or possibly some other irritant that got into the eye during surgery. Anyway, this morning the right eye looks 90% better. It is still a little red and swollen. I just keep asking myself "Is putting Timmy through this really worth it?" We have been told that if we don't do something that his face as it grows will be deformed because the bones around the eye sockets will not grow correctly.? And that this could also play a part in his nasal passages closing, because the way the bones in the face would grow, it would put pressure on his nose.? If this is true, we "have" to continue to go through with the surgeries, if we ever want Timmy's trach to be removed. Timmy's left eye looks wonderful! Dad has a call into Dr. Richard. Timmy has 2 week post-op follow up appointment tomorrow. Usually if Timmy isn't having any issues Dr. Richard doesn't need to see him. Tomorrows appointment was scheduled because of the right eye being so irritated, red and swollen. Now that the comformer has come out, we want to know if he still wants to see Timmy or just schedule surgery to replace the comformer.?

Thursday, March 12, 2009

Field Trip

Timmy's Pre-K school had a field trip to the Police Department today. The Police Department was holding their 4th annual Fun Day. Timmy had a blast! I think that he enjoyed the bumpy bus ride to and from the Police Department the best though. The children all had the opportunity to see drug dogs in action, police horses, motorcycle patrol, squad cars, and SABLE (the helicopter that is used to assist in patrol). I was a bit disappointed. I asked one of the policemen if he would sit with Timmy on the motorcycle with it started or at least let him hear the siren. I was told "no" because it may upset some of the other children. I can understand this, but Timmy can't see. He has to use his ears as his eyes. Just using his hands to "feel" the motorcycle doesn't mean much to a blind child. Being that Timmy is disabled, the policemen were nice enough though to let Timmy's class up close to the motorcycle and the horse, where as the other children were not allowed to get close. Timmy got to sit inside of the helicopter and play with the controls. Sit inside of a police car. Hear the drug dogs barking, that were confined inside one of the police cars. And pet one of the horses. This was Timmy's very first field trips and outing with a large group of classmates.

Here are some pictures.






Saturday, March 7, 2009

Your Cross

Merry (one of Timmy's home health nurses) and I took Timmy to Wal-Mart last night to buy a bike helmet. Timmy received a bike for Christmas. The weather has been so cold that we haven't been able to take Timmy outside to ride. The weather today (Saturday) and tomorrow is suppose to be gorgeous, mid to upper 70's and sunny.

Timmy hates to go shopping. So us asking Timmy to cooperate and tolerate us trying on bike helmets was like asking for the moon. After us trying on what seemed like a million helmets to Timmy, he started getting very angry with us and crying. So we hurriedly chose a helmet and went on our way to finish shopping. Being that Timmy has microcephaly (a small head) we were heading to the craft department to see if we could find some foam or something else to use to stuff the helmet so that it would better fit Timmy's head.

Timmy's cries of anger caught the attention of one of Wal-Mart's employee's. We explained that Timmy hates shopping and besides our outing had thrown off his regular night time routine. The employee questioned us about Timmy's eyes being swollen and bruised. We explained that Timmy had had surgery a week ago. And that he was born without any eyes. The employee started telling us about her daughter's friend, who just had a baby who was born without a rectum and his intestines outside of his body and all of the issues that the baby and his parents have had/are having to go through.

Once again I was shown that even though things in our life with Timmy may seem hectic and overwhelming, there is always someone else out there who is having to deal with much greater issues.

So here is a poem that I came across accidently today. I thought that I wouold share.

~ ~ Your Cross ~ ~
The young man was at the end of his rope. Seeing no way out, he dropped to his knees in prayer. "Lord, I can't go on," he said. "I have too heavy a cross to bear."

The Lord replied, "My son, if you can't bear its weight, just place your cross inside this room. Then, open that other door and pick out any cross you wish."

The man was filled with relief. "Thank you, Lord," he sighed, and he did as he was told. Upon entering the other door, he saw many crosses, some so large the tops were not visible. Then, he spotted a tiny cross leaning against a far wall. "I'd like that one, Lord," he whispered.

The Lord replied, "My son, that is the cross you just brought in."

When life's problems seem overwhelming, it helps to look around and see what other people are coping with. You may consider yourself far more blessed than you imagined. ~Author Unknown

Monday, March 2, 2009

Playing Catch-Up

It has been a while since I have updated, sorry. Alot has happened, but I will only reflect on the highlights of the past 6 weeks.

The reason for the lapse in updating the site is because my vision had gotten too bad and I could no longer read the computer. My keratoprosthesis (artificial cornea and lens implant) surgery had originally been scheduled for Feb. 9th, but the surgery had to be rescheduled, due to an emergency case. I had my keratoprothesis surgery on Feb. 16th. I'm happy to post that my surgery was a success!!!!! Honestly, I feel that this procedure has a better outcome compared to my donor cornea transplant in April 2001.

Unfortunaltely the Ophthalmologist at NIH have decided that they are not able to remove Floyd's cataract. The Doctors feel that his eye condition is above their abilities and that the surgery would be too risky. Floyd has applied for a supplimental insurance. Once he receives his insurance card, we will be on the hunt for a Ophthalmologist who will be willing to take the risk and preform the much needed cataract surgery for Floyd. I have always said, "There are thousands upon thousands of Doctors in this world. You may come across many thousands of Doctors who will refuse to help. But somewhere in this large world, there is a caring Doctor who will be willing to help. You just have to be willing to take the time to search." Hopefully out journey for an Ophthalmologist will be short.

As of Feb. 7th Emily is FINALLY COMPLETELY POTTY TRAINED! WOOHOO!!!!!! It took what seemed like forever to get her to go poop in the potty. She kept saying that she was scared to go poop in the potty. When asked why she was scared, she was unable to tell us. So I decided that I had had enough of her "knowing" when she had to go. She had all of the tell-tale signs of being ready. Emily would tell us that she needed to go poop. She would go put on a Pull-Up when she had to go or she would hold her poop until bedtime, when we would put on a Pull-Up so that she wouldn't wet the bed. She would also announce when she had finished pooping and needed her Pull-Up changed. Despite my dad accusing us of abusing her and threatening to call the police and my mom coming running next door to see exactly what we were doing to Emily. I was adament that Emily was not going to poop in her Pull-Up anymore. It was time that she faced her fear and overcome her fear. I sat in the bathroom with her while she sat on the toilet. We looked at books together. When she just couldn't hold her poop anymore and she finally went in the toilet, Emily was both excited and surprised that she had gone and nothing bad had happened to her. She had finally earned her rewards. Daddy had promised to put her T.V. back into her room when she would go, Merry promised to take her to the beauty polar and Dotty promised to bring her dog to visit Emily. Emily now insist that someone come look each time that she goes. She is still so proud of herself.

We have new surgery dates for Timmy surgeries. The 1st surgery has been rescheduled for March 26th. At this time Dr. Z will be re-opening Timmy's nasal passages and removing his tonsils. The 2nd surgery has been rescheduled for April 25th. (? I'm waiting for a mailing to comfirm the actual dates.) During this surgery Dr. Z will be lasering Timmy's airway just above his trach to remove scar tissue and remove his adnoids. On May 7th Dr. Z will do a scope of Timmy's upper and lower airways to make sure everything looks good. If things look good, Dr. Z will possibly try removing Timmy's trach.

Timmy saw his neurologist on Feb. 26th. Dr. Greenwood was very impressed that Timmy is now able to sit for very long periods of time unsupported. Eight months ago Timmy was sitting for only short periods of time unsupported. We discussed the "spells" that Timmy has ocasionally. We have come to the conclusion that most likely the "spells" are only what we have termed Timmy-tantrums. When Timmy has one of the "spells" his face turns red, his arms go out to the side, his entire body stiffens, he draws up his legs and he becomes vocal, with sounds as if he is in pain (uh,uh,uh). The vocalization and stiffening immediately disappear once he is picked up and held. We also discussed Dr. Greenwood scheduling an abdomenal MRI. Dr. Muenke and staff at NIH are very interested in an MRI of Timmy's pancreas. Dr. Greenwood is suppose to be getting back to us with the date for the MRi.

Timmy had surgery on Feb. 27th with Dr. Richard to replace the comformers in his eyes. The surgery was very stressful and painful than normal for Timmy. Dr. Richard had to remove some tissue from the eye sockets, so that the comformers would fit. He also slit each eyelid to extend the eyelid. Stitches were place in the eyelids where they were slit and extended. In the left eye triple the size of the previous comformer was placed. And in the right eye double the size of the previous comformer was placed. Timmy's pain level this time required us to make a phone call to the Doc on call, so that a stronger narcotic could be called in to Timmy's pharmacy. Regular Tylenol just wasn't helping the pain. Timmy's eyes also bled more than from previous surgeries and his eyes are more bruised.

Today Timmy is feeling much better. He is laughing and responding approperately to his favorite toys and songs. His blood glucose levels are elevated. This is normal following surgery. But we are troubleshooting just to make sure it isn't a bad insulin site or insulin issue. Hopefully the blood glucose levels will return to their pre-surgery levels soon.