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.

Bad News, Good News, Hopeful News

Sorry I haven't updated sooner, but Timmy decided to pull an all nighter Thursday. I guess with the 7 hours 12 minutes of sleep Wednesday night topped off by the anesthesia from surgery Thursday, he felt well rested. So Friday I was more or less a walking zombie.

The Bad News....On Wednesday evening Timmy's left eye comformer came out, yet again. We had been anticipating this would happen. Over the past week or so, Timmy's left eye lid had gradually been opening. It was in longer than Dr. Richard had anticipated that it would stay in. The comformer stayed in for a month. So hopefully Timmy's eye socket has made some progress in growth within the month. The comformer will not be replaced until Timmy goes into surgery to change out the comformer in his right eye. This will occur sometime in February.

The Good News....The sleep study Wednesday night went very well. Of course, the tech could not give us any information as to how well Timmy did. But the tech did say that Timmy slept for 7 hours 12 minutes and went into REM sleep 4 times. And that Timmy woke up twice and was able to get right back to sleep. We were told that it could take up to a couple of weeks for the Neuro sleep Doctor to receive, read and complete the report on the sleep study.

Our second bit of good news is in regards to Timmy's ABR. The hearing test still shows profound deafness in Timmy's right ear. BUT the hearing test shows NORMAL hearing in Timmy's left ear!!! Timmy was able to hear sounds from all of the freguencies. So sorry Timmy! We have to take your newly found cause and effect and teether toy away. You don't need your hearing aid anymore at this time! WooHoo!!!

Now for the Hopeful News....Before Timmy can have his trach removed, he has to go through a couple of surgeries. The first surgery will include enlarging the left (?) nasal passage and removing the tonsils. Or maybe it is the right nasal passage, which is narrow and needs to be reopened? Oh well, I can't remember. Anyway one nasal passage is open and the other is narrow and needs to be opened more. Also during the first surgery someone from the GI team will be doing a Ph probe study. Timmy's esophagus and laranyx showed signs of swelling. So this could possibly mean that Timmy is having reflux. If he is having reflux most likely the nissen fundoplacation surgery that Timmy had allmost 2 years ago is failing. We have suspected something was wrong because Timmy has been able to burp by mouth, he drools a lot and he wants to keep his fingers/hands crammed far back into his mouth. So we will address this issue more indepth as test results become available. For now, I have a call into Timmy's pediatrician to see if she will prescribe some Nexium to go along with his daily dose of Prevacid. The second surgery will include lasering the airway above the trach, to remove scar tissue. This scar tissue most likely formed during the 3 months following Timmy's birth that he spent on a ventilator. Hopefully this will work. If not, Timmy will need a third surgery. In which case, some cartledge will be removed from his ribs to build and expand the airway. Also in the second surgery, Timmy's adnoids will be removed. If all goes well, within a week or two following the second surgery, we can try to remove Timmy's trach. There will be a team meeting on Dec. 8th. A team meeting is where doctors from each speciality get together to discuss their patient cases and plans of care. At this time Dr. Zdanski will present Timmy's case and his plans. And consult with a member of the GI team to see how to proceed with Timmy's reflux. We will follow up with Dr. Z. to see what has been decided.

Thankful for little miracles

Happy Thanksgiving!

Wow, it is hard to believe that the year is almost over. A lot has happened this year that I am thankful for......

My Parents
They have been a God send in a pinch. Even though they have no idea as to how to help with Timmy's medical needs, they have been there to help care for Emily so that we coould take Timmy to doctor visits. And they put up with all of us in a small apartment for 6 months. It was a bit cramped and no one had any privacy, but we all made due.

Timmy's nurses
In my opinion Timmy has the BEST team of nurses that anyone could ask for. They all are very loving, caring and dedicated people. They all go over and beyond the call of duty to take care of Timmy. The nurses not only see to Timmy's medical needs, they also play the part of physical therapist, occupational therapist and speech therapist. There have been many times when we have been financially strapped for money and one of the nurses woould reach into their own pockets to purchase whatever is needed for the Timmy.

Timmy's health
So far Timmy has gone an entire year without a hospitalization! Yay!!!! We have taken on two new team members in the medical field. Dr. Michael Richard, orbital plastic surgeon, has replaced Dr. Dutton. And Dr. Zdanski ENT has replaced Dr. Gregory Hulka. Dr. Richard has taken Timmy into surgery twice so far and we have seen remarkable improvements on the growth of his orbits. Timmy has a sleep study scheduled for December 3rd and exploratory surgery with Dr. Zdanski on December 4th. Being that Timmy is a new patient of Dr. Zdanski's , he wants to take a look at Timmy's airway for himself and not just go on what is in Timmy's records from Dr. Hulka's office. Dr. Zdanski's goal is to "try" to get Timmy's trach taken out in the near future.

Timmy's test results for celiac disease came back negative. Timmy's growth like insulin hormone level also came back normal. His growth hormone was slightly below the lower side of normal. Being this level was so close to the low side of normal, we have opted at this time to hold off on giving Timmy any growth hormones at this time. We have been told that giving Timmy growth hormones with levels this close to normal "could" cause a chain reaction affect and cause Timmy to develop leukemia or some other form of cancer. We have increased the number of calories per day that Timmy gets to try to increase his weight and height. For the past few weeks Timmy's blood glucose levels have been very well controlled.

I am thankful that Zachary is such a good big brother to Emily. He plays and helps watch her while we are busy taking care of Timmy's needs or chores around the house. I'm proud of Zachary for making A's, B's and 2 C's on his most recent report card. Given the fact that he had to change schools soon after school started.

Emily, our mouse, what can I say? She is a typical, curious, hyperactive, helpful, loving 3 year old child. She loves chunks of cheese, watching T.v., going to preschool and helping to wash dishes. She's our CNA in training. She also likes to try to help take care of Timmy whenever possible.

And last, but not least CHOCOLATE!!!! It's a cure all for every and all situations......

HAPPY 5th BIRTHDAY!

!!!!! HAPPY 5th BIRTHDAY TIMMY !!!!!

It is raining today. Yuck! I was so hoping that today would be warm and sunny, so that you could go outside to swing. You enjoy swinging so much. You also like to go on walks around the neighborhood, while being pushed in your KidKart (stroller). You really enjoy listening to the many different sounds, especially the different birds and the barking dogs. I just love to watch your face light up with the biggest and cutest smile, when you hear a familiar sound. I love to hear you laugh. Your laughter is so contageous. When you start to laugh, you first snicker, followed by a few giggles and then a full belly laugh. It is so cute and like sweet music to hear.

There are only three things that come to mind that you dislike. The blowing wind, peaches and the nursery rhyme song "Pop Goes The Weasel." I can agree, peaches are yuck!

We spent the day at home, except for the short trip to Wal-Mart to buy you a birthday present and to order your birthday cake. We plan to have your party on November 8th. This is the date that was the most convient for all of your guest.

Brother Zahary just couldn't wait, so he went ahead and gave you your birthday present from him. Zach bought you a vibrating poodle and a teddy bear. He also gave you a huge banner HAPPY BIRTHDAY card.

Nurse Wendy also gavve you one of the presents that she bought for you. It was a Farmer Says toy. You just LOVE the sound that a cow makes. Moo makes you smile and laugh. This is one of the animal sounds that we are sure that you know and recognize, even when it is within a story that is being read to you.

You also received a birthday card from grandma Gaeth and Uncle Earl. They sent you some money for your birthday. Being that you really enjoy finger painting, maybe you should spend the money on more finger paints and paper?

It is bedtime. Time for nite nite kisses.....

I LOVE YOU Timmy!!!!! Happy Birthday!!!!!!

Post Surgery Update

Some picture of Emily on Halloween. Poor Timmy had eye surgery on Halloween Day and didn't feel up to going Trick-or Treating.

Timmy had the eye comformers in his eyes replaced on Friday. Surgery went very well. Timmy had some growth in both eye sockets. This is very good news! Timmy has hydrogel expanders in each of his eye sockets at this time. Dr. Richard was able to get the smallest size of the hydrogel in Timmy's left eye socket and the medium size in the right. There are three different sizes of comformers/hydrogels that are used to expand the eye sockets. The difference between the hydrogel and comformer is, the hydrogel is made of a silicone type substance, which absorbs the eyes natural secretions, thus this causes the hydrogel to expand and stretch the eye socket. A comformer is s hard piece of plastic, which is wedged in the eye socket to help maintain growth. Dr. Richard chose to use the hydrogels this time to give Timmy's eye sockets a rest from the plastic comformers. Both of Timmy's eyes are sutured shut to help to hold the hydrogels in place. The sutures are on the inside of the eyelids. Dr. Richard did a FANTASTIC job with placing the hydrogels! Honestly, Timmy's eyes have NEVER looked this good following previous surgeries with his "old" occular plastic surgeon.

Timmy was in quite a bit of pain. This is to be expected following any surgery. Also the hydrogels can expand to their full potential within a few hours or days. Timmy's pain was easily managed with Tylenol and Motrin alternating the doses every 3 hours. Timmy was also given a dose of his Valium, which helped to further relax him. I (mom) figure that the Valium helped only because Timmy still had some anesthesia in his system, a dose of Tylenol and a dose of Motrin. Timmy CAN'T take Valium, because it makes him fly higher than a kite!!!!

What do I mean by this? Well the very first time that Timmy was given a dose of Valium, which was suppose to help him relax and sleep. Timmy stayed up ALL NIGHT in a fit of hysterical laughter! Now comes the plot to kill Dadddy (Floyd)!

Timmy woke up Friday night early Saturday morning, to be exact 1:00am, just as Floyd was heading to bed. What sleep aid did Floyd choose to try to get Timmy back to sleep???? Oh no not the ole standard miracle sleep aid, Zanaflex. Not the one which would have had Timmy knocked out in 10 minutes or less. Oooh Noooo! He gave Timmy a dose of Valium! Wanna guess who had to get up and stay up with Timmy, so that he didn't use his hands to hit at his eyes, while in his fit of hysterical laughter??? ME (mom)! Guess what Dad (Floyd) did? He went to bed and went to sleep! I was up with Timmy until well after 4:00am! Even though I was exhausted, it was funny to watch Timmy in his fit of hysterical laughter. At 4:00am I couldn't stay awake any longer. I had to get some sleep. I had been awake off and on since 1:22am Friday morning. I was so scared that we might over sleep and miss our scheduled surgery time. We had to get up at 4:30am so that we could get dressed and have Timmy to Duke by 6:00am. I hated to do so, but I put Timmy's arm splints on and put him in his bed. I don't like doing this because he still tries to self stimulate and can hit himself in the eye even with the arm splints on. I was able to rest with one ear open until 7:00am at which time PaPa and Emily came to the door and woke us up.

What A Day!!!!

Timmy had to be at the hospital at 6:30am. We arrived a little late, 6:45am. After checking in at admitting, we were sent upstairs in the Children's Hospital surgical unit. We were immediately taken back and Timmy was prepared for surgery. Timmy was taken into surgery at about 8:00am. His surgery was over at about 8:45am. Surgery went great! There wasn't an infection in either ear. The ear tubes that had been in the ears had come out. The doctor cleaned the ear wax out of the ears and replaced the tube in each ear. Timmy did so well in recovery, we were ready to leave by 10:00am.

On our way home is when everything went downhill! Merry Small, one of Timmy's home health nurses, drove us to Timmy's scheduled surgery. Merry stopped to fill up her car with gas before we started on our way home. Within a few minutes of leaving the gas station, the check engine light came on. Merry pulled over thinking that maybe she had failed to replace the gas cap securely. Immediately after leaving the interstate, the car engine dies! Merry had just recently had her car serviced and she checked the oil before we left to go to UNC. After checking everything that she could possibly have fixed herself, she made several calls to towing services trying to find someone who would do roadside service. NO ONE did roadside service. She then called 911 and a policeman was dispatched. He called a towing service that they use alot. When the tow truck arrived, the driver agreed to tow the car. Being that there wasn't enhough room in the tow truck for 3 other adults and a child in a car seat. Can you guess how we got to the towing company at the same time as the car??? We rode in the car, on the back of a flatbed tow truck!!! Wow, what a ride that was! The ride was almost as good as a carnival ride or a fair ride. You can feel every pothole hit and when the driver would turn a corner or go around a curve, it felt like the car was going to tip off of the tow truck. After dropping $30 for gas, $125 for the tow, well over an hour wait and possibly closer to two hours for the mechanic to diagnose the problem with the car, everyone's stress level was at its max! When the mechanic returned with the final verdict as to the problem with the car, we all were sent into a state of shock! The problem was one that had not even crossed anyone's mind. The timing belt has broken and this in turn had made the entire engine go bad!!!! Man what luck! Over 180 miles away from home with a child who had just had surgery and wasn't feeling great. Timmy was crying from being in minor pain, feeling miserable from having a high blood glucose level, hunger , the stress of just having had surgery and just the stress that he was picking up on from everyone else. This in turn drives our stress level up even further. We all are trying to calm Timmy while brainstorming our options. Merry decides that the best and only thing to do is to rent a car. So Enterprise Rental was called and someone from Enterprise comes to get us to take us to their office so that Merry could sign the approperate rental agreement papers. WooHoo our problem as to how we were going to get back home had been solved! Yeah right! Merry goes in to sign the rental papers and just because she doesn't have a major credit card and she wasn't from the local area, they wouldn't let her rent the minivan. Merry's Visa Check card wasn't good enough for them. I had a major credit card, but they wouldn't accept my credit card, because I don't have a driver's liscense. And cash was totally out of the question for an option. Merry called her sister Chris who lives, but who is in the process of moving from the area, to help save the day. Chris came to Enterprise and took the minivan, which Merry had tried to rent and Chris let Merry borrow her car. THANK YOU SO VERY MUCH CHRIS!!!! YOU ARE A LIFESAVER! I DON'T KNOW WHAT WE WOULD HAVE DONE WITHOUT YOUR HELP. Timmy had just had surgery that morning and he wasn't feeling well. We had exhausted all of our other options. THANK YOU! THANK YOU! THANK YOU! And if there is ever a day that you need a favor feel free to ask for our help. We owe you one.

A Busy Week Ahead

Timmy has a busy week ahead, with Pre-Op and two surgeries. Tomorrow afternoon, Sunday we will be leaving to go to Chapel Hill. Timmy has to be at UNC at 6:30am Monday morning. So we will stay in a hotel Sunday night. Monday's surgery is with the "new" ENT, Dr. Z. Timmy will be having ear tubes replaced, because ear wax is completely blocking the ones currently in his ears. Also there is fluid behind Timmy's eardrums. The new tubes will help to drain the fluid and help improve Timmy's hearing. We are all looking forward to the surgery being over, so that Timmy can start wearing his hearing aids once again. We are all hopeful that once Timmy starts wearing his hearing aids, his vocabulary will grow and words will be pronounced better, so that others can understand what Timmy is trying to say. We brought Dr. Z on board as Timmy's "new" ENT in September. Timmy's "old" ENT didn't want to be aggressive when it came to Timmy's hearing issues. He also wouldn't make any decisions alone, when it came to the management and preparations to try to remove Timmy's trach. The "old" ENT would pass the buck to Timmy's Pulmonologist, who in turn would toss the ball back to the "old" ENT, so nothing productive was being accomplished. Also the Audiologist, who works along side the "old" ENT didn't want to do anything to help improve Timmy's hearing. We requested on several ocasions for a repeat ABR (Audiotory Brainstem Response) test, to reassess Timmy's hearing following ongoing ear infections and we were told another ABR wasn't necessary. We also brought a "new" Audiologist on board, in September. Timmy is scheduled for a ABR on December 4th. Following the ABR, we will discuss with the Audiologist, the results of the ABR and options for new hearing aids for Timmy.

On Thursday, Timmy has a Pre-Op visit. On Friday, Timmy is scheduled for surgery to have his eye comformers changed/replaced. The comformers are used to stretch the eye sockets, to prepare them for prosthetic eyes in the future. Dr. Richard at Duke will be preforming the surgery. We changed Occular Plastic surgeons, because Dr. Dutton at UNC, didn't want to be aggressive and change out the comformers in a timely manner. The comformers are suppose to be replaced every three to four months. In July when the comformers should have been replaced, Dr. Dutton wanted to wait until sometime in November. In July, Timmy's eyes were secreting amber colored fluid. From what we have been told, this is a definate sign that the body is starting to reject the comformers and this is a sign that it is time for the comformers to be replaced.

Timmy has never had two surgeries scheduled so close together before. Being that each surgery is a simple procedure. Neither surgery should last no longer than 30-40 minutes. And being that Timmy hasn't had any complications arise during or after previous surgeries, he should be fine. Pain and recovery time should be short. With the pain being managed with Tylenol or Advil.

I'll try to post a post surgery update on Timmy Monday evening.

Endocrinology visit

Timmy had a visit with Dr. Ali, his Endocrinologist earlier this week. Dr. Ali was very impressed on how well everyone has kept Timmy's blood glucose levels under control. Dr. Ali order a complete electrolyte panel to check Timmy's sodium, calcium, potassium levels. Timmy has been having what we suspect to be leg cramps and his electrolytes being out of balance could cause leg cramps. Or what we are seeing could just be a typical 4 year old's temper tantrum. Better to have blood work done to assess any possible problems, rather than just to chalk what we are seeing up to a tantrum.

Dr. Ali is also screening Timmy for Celiac Disease. Celiac Disease is a disease from what I have read, causes malabsorption of food in the small intestine. And is associated with gluten intolerance. Children with Celiac Disease are typically small for their age. Being that Timmy had some blood glucose issues almost a year and a half ago with Pediasure, Dr. Ali feels that it best to screen for Celiac Disease before we decide on which new more balanced and age approperate formula to try. Timmy doesn't have any of the symptoms associated with Celiac Disease.

We also discussed with Dr. Ali the idea of possibly starting Timmy on growth hormones. Some of the risk associated with starting the growth hormone are, Timmy could develop certain forms of cancer or leukemia. These risk are higher for Timmy being that he has a chrosomal abnormality (Down Syndrome). By giving Timmy the growth hormones it would help Timmy to catch up growth with his peers. Dr. Ali is having Timmy's insulin like growth hormone level checked. This level is what is causing Timmy to be small for his age, compared to the human growth hormone. We will make our decision once we get the results from the blood work.

Genetic Testing

We have been invited to go to NIH (National Institute of Health), in Bethesda, Maryland, for further genetic testing and to participate in their study of children with (HPE) Holoprosencephaly. We are so excited! We are hopeful that our many questions regarding Timmy's condition will soon be answered. This past February, we had an appointment at UNC with the genetist Doc and everyone's blood was collected to be sent to NIH for genetic testing. We are anxiously awaiting those results. We have been in contact with several people of the staff at NIH in regards to the results of the testing. We have been told that niether of us are carriers of any of the known genes related to HPE. They are suppose to go over these results with us at our visit. The date of our visit is scheduled for Monday, December 15th., with us arriving on Saturday, December 13th. As of right now, we will be there at NIH for a week. We have decided to participate in all areas of the screening areas offered. This includes: A visit with a Neurologist, Endocrinologist, A complete physical, An Echocardiogram, An abdominal ultrasound, Photography, Speech and Physical Therapy evaluations and all of us are going to be seen by a genetic ophthalmologist. Being that both Floyd (dad) and I (mom) have vision problems, they are interested in seeing us as well. The genetics team at NIH "thinks" that the possible cause of Timmy's condition may be linked to mom and dad's vision impairment. If this is true, it must only affect boys, because Floyd and I have 3 children together and Emily is very healthy. I also have 4 other children from previous relationships 2 girls and 2 boys, all of these children are healthy. So I'm very interested to find out what the team at NIH findings are. If the Doctors at NIH can not provide us any information as to what may have caused Timmy's condition or the odds of this occurring again. It will definately be a great learning experience for everyone. And a much needed all expense paid vacation for us.

School Days

Here are a couple of picture of Emily. They were take during that summer at her Preschool. Emily has been attending Preschool for the past 8 months. She LOVES going to Preschool so that she can play with her new friends.

Timmy started his very first day of Pre-K on September 8th. He LOVES going to school! His favorite part of the day is music and movement time and having his friends pull him around the playground while he rides in the fire truck.

When Timmy started school he was going only 3 times a week for half a day. We had an IEP meeting on October 8th to reassess Timmy's adjustment to school and so that the school therapists could add their goals that they had set for Timmy to the IEP. Timmy now attends school 3 times a week full time and the goal is to work him up to 5 days a week full time to prepare him for Kindergarten next year.

At the IEP meeting we discussed the safety of the swing that has been placed on the playground for Timmy to use. After re-inspecting the further adjustments that the physical therapist has made to the swing, I still feel that the swing is inapproperate for Timmy's use. So the next step is for the school to order a swing, which is more suitable to Timmy's needs. We have been informed that this may take some time to get into place. In my opinion, Timmy's safety is more important than a botched job.

We also discussed meal preparation of school lunch for Timmy. After looking more closely at the school lunch menu, the carbohydrates and sodium levels are too high for Timmy's diet and in my opinion any child's diet. It is amazing that 60% of the calories for the lunch comes from carbohydrates! And we question "why" kids are overweight, are being diagnosed with juvinille diabetes at a younger and younger age and why their blood pressure is so high. We have decided that for a more balanced diet, it is in Timmy's best interest, that we prepare his lunches at home and send them to school with him each day. This way we are sure that the consistency is right for Timmy as well, being that all of his foods have to be a smooth puree. The only issue that the school has to worry about is making sure that LORD Timmy's (a.k.a. TimmyLocks) food is kept at that "just right" warmth at lunch time