Where do I start to tell and relive the medical history of my beautiful daughter Amie’s life? One would usually start at the beginning, but in this case the story has to start before then. About a year before Amie was born, I had a first trimester miscarriage. The doctor who took care of me through this unfortunate ordeal, after learning of the Treacher Collins Syndrome in our family, strongly urged Don and I to see a Geneticist in San Francisco. All either of us knew about Treacher Collins Syndrome at the time was that it caused a hearing problem. About six months after my miscarriage, we decided the time was right to investigate further, so an appointment was set and off we went. The things we learned at that appointment made us wonder if we should ever consider having children of our own. Unbeknownst to me, I was already pregnant with Amie when we went to that appointment.
Now I’ve never been a good gambler, or a religious person, but in this case we decided to let the chips fall where they may and leave the rest to Him. He gave us Amie, born full term on October 5, 1978 at 6 pounds 14 ounces, and 21 inches long. They do say life changes dramatically for a husband and wife when they have a child. That is truly an understatement, especially when you have a special needs child.
We knew the minute Amie was born that things weren’t right. It was very apparent she had a breathing problem as soon as the Obstetrician delivered her. The Neonatologist, Dr. W, was called in, and within minutes, Amie was intubated and on a ventilator, where she would stay for the next four days. They tried taking her off the ventilator several times, and each time she went into respiratory distress. Dr. W made a recommendation based on his experience with a six month old boy currently in his care who was on a ventilator and had been all his life (because he had been born without a diaphragm); Amie’s only alternative was to have a tracheotomy. This was the closest way to give Amie as normal a life as possible. At that time it was Dr. W’s and Dr. Mc’s, the Ear, Nose and Throat specialist, estimate that by the time Amie was two years old she would have grown enough to not need the tracheotomy any more. So at four days old Amie had her first of many surgeries. We were very lucky to have found a wise and talented ENT to guide us through this early stage of Amie’s life.
When Amie was born, the first and foremost problem was her breathing difficulty; that was taken care of with the tracheotomy. She also had a cleft of both the soft and hard palates. This presented feeding difficulties: as she had no sucking abilities, breast-feeding was impossible, as was her being able to suck on a normal bottle. We ended up improvising using a lamb’s nipple and actually pumped the milk into her mouth where she could then swallow it. It was a very slow process to feed her as she tired out quickly. So to ensure that Amie got enough nutrients, we were also taught how to do gavage feedings on her. Gavage is where a tube is inserted through the nose to the throat down to the stomach, and then with a large hypodermic; the milk is flushed through to the stomach. By doing gavage, it made feeding times so much shorter, five to ten minutes as opposed to an hour or longer at times. We only used this at home as a last resort for the middle of the night feedings.
The hospital where Amie had been born was the largest facility in northern California outside of San Francisco. Yet in spite of the number of births this hospital had, Amie was the first infant to be released from that hospital with a tracheotomy. Up to that point in 1978, all tracheotomy babies had remained in the hospital through the duration of their tracheotomy needs because of the amount of required care and all the risks involved. The social service people had no idea what supplies or equipment we would need to be released with. Needless to say, we all learned about this at the same time. It was not a time in our lives where we wanted to be guinea pigs. Planning was crucial.
The hospital sent us home with a large suction machine, used to keep the trach clear, a nebulizer which kept the trach moist so the airway wouldn’t dry out, and extra trach tubes for weekly changes. The there were cases of sterile water, q-tips, gauze, medicines, heaven forbid we should forget the cases and cases of suction catheters and odds and ends of other stuff. Suddenly what should have been a baby’s nursery soon resembled a hospital room.
After all the lessons were taught, the supplies ordered, and the equipment delivered, came the last lecture from the doctors, it’s one I’ll never forget as long as I live. Dr. Mc’s parting words were, "This is a huge job your taking on, and what we’re about to say could certainly happen here at the hospital. Just don’t be surprised if you wake up one morning and find that Amie hasn’t made it through the night." We were told that 40% (4 out of 10) tracheotomy babies die within one year. What a way to leave the hospital with a newborn baby. Yes, we were thrilled to finally be able to take our baby home, but scared to death at the same time.
The weeks that followed Amie’s release from the hospital were filled with doctor appointments weekly for trach changes, audiology testing, and pediatric immunizations. It didn’t take us long to figure out that to leave the house was a major undertaking. It wasn’t just grab the diaper bag, baby, and go. If we went somewhere, did they have suction available? If not we had to take our suction machine with us. We soon got a small portable machine that fit in the stroller basket and another that worked off the car battery, so while in route anywhere we had suction available. Amie’s diaper bag didn’t just have diapers and bottles. It was also a miniature doctor’s bag, with everything we would need in it to take care of the trach while away from home.
It sounds like we were off everyday for new adventures. Not true. In fact Amie only left the house for doctor and other appointments until she was about two years old. We found the best way to keep her healthy was to not expose her unnecessarily to outside germs. So for most of her first two years, we were just very selective about where we took her because our primary concern was maintaining her health. It is not to say that we sheltered her away, we did take her out, after all Amie had to go to Grampa’s and Gramma’s to see the cows and horses.
Hearing was the second most critical problem we addressed with Amie. She was tested and found to have a 60-70 dB loss bilaterally. Normally a child would be fitted with a couple of hearing aids and sent on his merry way. In Amie’s case, because she was born with bilateral atresia (without normal ears), the audiologists were faced with a more unusual situation. Their main concern over the headband that she ultimately was fitted with, was the constant pressure on her skull. As we all know babies’ heads grow at a tremendous rate, so to alleviate the pressure, we just had to be vigilant about stretching the headband as she grew. There would be times that we just wouldn’t put the hearing aid on so Amie wouldn’t have that constant pressure on her head all day long. During those times we would play a radio near her with the volume cranked way up so she could hear it. We also did lots of yelling to provide normal speech sounds for Amie.
Amie still had her tracheotomy tube in, but we had found when she really started talking (at about two) that the tube could be plugged during the day with no ill effects for her. The tracheotomy tube that Amie used was still an infant sized tube, and this particular one did not have the inner canula piece that allows you to close it off for speech. You know they say that necessity is the mother of invention. We had to design a "plug" for this purpose, as none was available for this particular tracheotomy tube that Amie was using. We used the tops of the gavage feeding tubes as they we close to the same type of material the tracheotomy tubes themselves were made of. With that piece of plastic he fashioned a small "plug" that would fit snuggly into the trach tube opening. This "plug" could then be easily pushed out for suctioning or when Amie needed it out; she was able to do this easily herself, sometimes more easily than we adults could. Dr. Mc’s theory, in using the infant sized tube, was to keep the stoma hole as small as possible so that when it came time for permanent removal, Amie would have a smaller scar to deal with. Also the softness (pliability) of this tube was easier for a child to live with. It was felt even with the smaller tube, Amie was getting very adequate oxygen through it at night. She still needed airway assistance at night, because as she fell asleep all her muscles relaxed and the tongue would fall back and block the airway. So the "plug" would come out at night and go in during the day so she could chatter away at with ease.
The first of Amie’s two cleft palate surgeries took place when she was eighteen months old. Due to the size of her cleft, Amie’s surgery would be best done in two stages. The hard palate (the roof of the mouth directly behind the front teeth) would be done first; then the soft palate (the back part) would be done when she was about four years of age. Dr. F, the plastic surgeon, found a better result when the surgery was split up. In Amie’s case, she still has a little fistula (hole) in the roof of her mouth where it didn’t heal together properly after the second repair. It has never caused her any problems (except for a stray kernel of rice now and then), and if there is ever extra time during any future surgery, maybe she can have that closed at that time.
After Amie’s first cleft palate surgery, she started speech therapy one day a week in the beginning, then later two days a week. It was one on one therapy for an hour at a time. Even though Amie had a tracheotomy and in still had a cleft palette the idea was to promote the proper way of language production so when she was finally able to talk normally, it would be more normal for her. When Amie was very young, we started using sign language with her, which she picked up very quickly. If I remember correctly by the time Amie was eight months old she already had a sign vocabulary of about 50 or 60 words.
When Amie was about four she had the second of her cleft palate surgeries. The surgery itself was uneventful, but post operatively boy did we have fun. Due to the fact that Amie had a tracheotomy she had to be in Pediatric ICU. What was only supposed to be a three-day stay in the hospital ended up being a week. You know kids they come up with the strangest things at the most inopportune times. Two days after surgery Amie developed a slight temperature, a little runny nose and a rash over most of her body. Was she allergic to something, medicine, food, bedding? My first instinct told me it was the measles. The Doctors, nurses, everyone said no, that’s impossible. We knew of no one that Amie had contact with over the previous two weeks that had come down with the measles. So everyone said it was highly unlikely. Well to make a long story short, Amie was discharged after a week much to our objection with no diagnosis, and she still had this unexplained rash and slight temperature. On Amie's postoperative visit with the Dr. F two weeks later, he admitted to me that he did indeed think that Amie had the measles. Don and I found out later if they had admitted that it was the measles when Amie was in the hospital they would have had to quarantine all of the four bed pediatric ICU which was full and had a waiting list. This was also our first lesson on watching out for your own (but more on that later).
Due to employment changes, we made a major move from Sacramento, California to Sugar Land (near Houston), Texas. Amie is now nine years old and we were ready to begin her reconstruction surgeries. We didn’t know if we should switch Craniofacial teams or continue with the team we’ve worked with and gotten to know in San Francisco. In the end, we opted to stay with our San Francisco team, which met long distance treatment. Not something I would choose to do again if I had the choice.
The mandibular advancement (jaw) surgery was planned for early June only to be put off for a week because of a cold Amie was just getting over. The surgery was rescheduled for the following week. Amie had the surgery and everything looked great, she spent about 6 days in the hospital after surgery. For this surgery, her mouth was wired shut and remained so for the next six weeks of recuperation time. Don returned to Texas and to work. Amie and I went to my parents home in Sacramento to wait out the post surgery recuperation. Less than a week after discharge from the hospital Amie had a post-op appointment with Dr. O in San Francisco. Everything looked OK, but Amie had a low-grade fever that she just couldn’t shake, and Dr. O wasn’t too happy about that. Dr. O decided we should go back to Sacramento, but if the temperature went up we were to call him. Of course, the next evening at 9pm the temp goes up, we call, and Dr. O tells us to meet him at the hospital in San Francisco (a 2 1/2-hour drive away). So the nightmare begins.
They ran tests, they watched, they waited, they scratched their heads, but they couldn’t figure out what was causing the elevated temperature. Finally the incision site on one side of Amie’s head ruptured out; again they ran tests, they watched, they waited, and they scratched their heads, and still they couldn’t identify what the problem was. The next day the other side of the surgery site ruptured out also. By the time Amie had been in the hospital for a week this time, Don was back to work in Texas, and my parents had returned to Sacramento. After all, what could they do except sit around and wait; and my parents both also had businesses to run.
The doctors decided to put Amie on a seven day run of a slow drip IV medication that could only be given once a day at night when she was resting or asleep. Talk about a stressful situation. Stress had finally caught up with me and I badly needed a break. A few phone calls later, I had a support team back in place. My parents dropped everything and were there within three hours; Don arrived from Texas the next day. During that day my parents stayed with Amie and I stayed away.
Mom stayed with me at the hotel that night, and Dad spent the night sitting up in a chair with Amie at the hospital. My Dad, who also has Treacher Collins and also has a hearing problem, was concerned that he wouldn’t hear Amie if she called him during the night (remember her mouth was wired shut). Between him and Amie, they devised an alert system. They simply tied a long piece of gauze to the bed rail and tied the other end to Grampa’s finger. If she needed him during the night all she had to do was pull. It was a quiet night, but when Dr. O came in the next morning during his rounds, he found them both still asleep and Grampa tied to the bed. Dr. O was quite amused by the setup. He said he knew who had who wrapped around who’s finger.
The seven days of slow IV medication had been given and there was still no improvement. Amie had been in the hospital for this admission for 2 ½ weeks. The decision was made that the only way to clear up the infection and temperature was to remove the bone grafts that had been put in four weeks earlier. Back to surgery, recovery, and the whole routine. The thing that was most disturbing was Dr. O’s report after surgery. He reported that when he went to open the incision up, it just split apart when he touched the scalpel to it. There had been virtually no healing achieved by the skin tissue in the month since the surgery had been first done. The end analysis was that during the initial surgery there had been cross contamination between the mouth cavity and the bone graft site. (Retrospectively other Doctors since have speculated that probably if Amie had simply been given a long run of Penicillin, the bone grafts might have been saved). Who knows? All we know is Amie spent a whole month in the hospital only to leave with her mouth still wired shut and no results to show for it. Dr. O felt that Amie should stay wired shut, I still don’t understand why, but six weeks later they finally unwired her and the nightmare was almost over.
It’s when your in an extended situation like this, that you really see your best friends and feel the support that holds you together. It seems like they come out of the woodwork to help. Amie’s friend, Jonna, came to San Francisco on numerous occasions to cheer Amie up, one afternoon they spent a couple of hours in the playroom at the hospital where the Occupational Therapist gave them poster paint and paper. They painted all afternoon and when the Therapist returned she was amazed at what the girls had done. The next day when all the paintings were dry she brought them to Amie’s hospital room and hung them on the walls for Amie to enjoy. We brought all those paintings home with us and later I framed one of Jonna’s best works for Amie, it still hangs in Amie’s bedroom twelve years later.
Amie’s piano teacher, Joann, and her husband, Jim, came to see Amie one day. After a nice long visit with Amie they decided I too needed a break, they took me out for a beautiful lunch in the city. My Aunt Connie stopped in one day and thought I was looking a little weary, so she dragged me out and we just drove around the city and talked. Little memories like these help to displace the not so pleasant ones and make a bad situation not seem so bad anymore.
During all this time that Amie was wired shut, EVERYTHING, she ate was liquefied. That in its self was a nightmare. Have you ever tried to make a meal appealing to a nine-year-old sipping dinner through a straw? Ever had a Big Mac through a straw. HA! HA! HA! You cannot live for six weeks on chocolate milkshakes. This was before the days that Ensure was palatable. Enough said, I think you get the point.
Grampa decided everyone needed a break at this point and loaded us all up in the motor home. We spent the next week traveling around Oregon. A change of scenery can do wonders for the spirit. We all came home with a new sense of purpose after all the fresh air and beautiful scenery.
We did have one Doctor in the San Francisco Bay Area that we did return to see, due to the fact that he was the one that had perfected the external ear reconstruction surgery, Dr. B. Amie first saw him when she was about two or three years of age, at which time he determined she would need to grow a bit more before he attempted anything. Finally, when Amie was eleven years old, we decided the time was right. Amie and I returned to California filled with great anticipation for the new ears she would soon have, only to have Dr. B after a thorough evaluation tell us he couldn’t, or wouldn’t do surgery on Amie. It seems where Amie’s hairline grew would mean that the surgically placed ears, would be placed wrong on her head. Dr. B did not feel he could give Amie a look that she would ultimately be happy with; no normal ears was better than, badly placed hairy, normal-looking ears. There are some times, that doing nothing at all, is simply the best thing to do.
Amie’s next major medical jaw surgery was to be a repeat basically of what she had been through in San Francisco only this time by the Texas Craniofacial team. The team looked very carefully at what Amie had gone through in San Francisco and vowed not to repeat what had gone wrong. This surgery took place when Amie was fifteen years old. It is not to say that everything went as smooth as silk pie this time. It does seem like for every two steps forward, you take one step back.
Surgery went beautifully according to Amie’s Surgeon, Dr. H, they had moved the jaw forward and by all accounts everything sounded great. They just forgot one minor detail, after surgery they didn’t put Amie’s trach tube back in. As I’ve pointed out Amie breathes fine when she’s awake, but when she goes to sleep all the muscles relax and the airway become occluded. During surgery, the airway was maintained by the Anesthesiologist; but remember after surgery there is usually swelling to deal with, as was true for sure in this surgery. This was not such a great problem as Don and I quickly pointed this out and we were able to replace the trach tube with no problems. The major difficulty was getting suction catheters. Amie was in an adult hospital facility and had an infant sized trach tube, which required infant sized suction catheters. Then the situation was compounded even more when the nurse who was assigned to Amie that evening was a young Philippine who barely spoke English. Amie normally could cough most blockages out of her trach, but being weak from surgery plus her airway was extremely dry, that night it wasn’t going to happen. It took a few well placed phone calls to take care of it, but it pointed out once again you have to be your own patient advocate. The rest of Amie’s hospital stay was uneventful.
Amie’s mouth was held stable by very stiff and small orthodontic rubber bands after this surgery, which allowed her to be able to open her mouth a little so she could eat more regular food. She had a ¼ inch stretch ability between the front upper and lower jaw that she could push food through. Now mind you she couldn’t eat steak or bite into an apple, but it didn’t need to be sipped through a straw and with that she was thrilled (so was Mom).
Near the end of summer that year, the doctors decided that it was time to take the trach tube out. Amie was almost 16 years old and it was fourteen years later than we had expected for the trach tube to be permanently removed. Believe me it was a day Amie was more than ready for. A sleep study was done and the ENT Surgeon, Dr. W, concluded that Amie was indeed getting enough oxygen so the tracheotomy tube could be permanently removed and the stoma permanently closed. After many questions, much apprehension, and concern from Mom and Dad we finally said OK, but it was against our better judgement.
The big day came. The procedure to close the trach was something that could be done in Dr. W’s office under local anesthesia. The surgery closing went fine for Amie and other than having the post surgery pain she was fine. Fine, until she went to bed that is. Then all the reasons why the tracheotomy had been put in when she was four days old came to the surface once again. Only this time we’re two hours away from the hospital, and Dr. W, who is supposed to be reachable, isn’t. There was nothing we could do except wait until morning.
Let’s just say, the next day, I had a few words with Dr. W and leave it at that. The most important thing was to figure out how to deal with Amie’s night breathing difficulties, again, without having to put the trach tube back in. During our visit with Dr. W, she decided to put a scope through Amie’s nose and see if there was something else blocking the airway. It was during this exam that Dr. W decided she should have never closed Amie’s tracheotomy in the first place, as the airway was still, in spite of the jaw advancement surgery, too narrow for Amie. Why this wasn’t done before the surgery to close the tracheotomy, to this day still baffles me.
After much discussion, it was decided to do a home sleep study, which failed. Next came the hospital’s sleep study, which also for some unexplained reason came back with inconclusive results. They say third times a charm. The last study showed Amie’s O-2 saturation to be very adequate, but like when she was an infant, she needed positive pressure on her airway, which was what the ventilator did. Hence came the Continuous Positive Airway Pressure machine or CPAP for short. As Amie has explained before, she wears cap on her head that holds a tube to her nostrils, in which air blows into her nose with positive pressure. Since she has no difficulty during the day, the wearing of this nighttime apparatus is only a slight inconvenience. This machine is widely used for people who experience severe sleep apnea. For Amie, it was a way to keep the tracheotomy closed for good, and for that she would have done just about anything, no matter how inconvenient.
When Amie was 16 years old, the Plastic Surgeon, Dr. T, said it was time for the major reconstruction on Amie’s face to be started. The appointment’s for discussion of the surgery start early in April. Only Amie found out that Dr. W, who closed the tracheotomy, wants to put it back in, permanently. Amie said No! It was out and as far as she was concerned it was going to stay out. Dr. T agreed with Dr. W that the trach was needed for executing the surgery, but he didn’t necessarily think Amie would need to have it left in permanently after surgery. Amie had adequately proved the CPAP was doing fine for her. We told Amie based on that information from Dr. T that after the surgery if Dr. W still refused to close her tracheotomy up after surgery that we would find someone who would. At this point in time we went on hold, Amie decided against the reconstructive surgery, period.
A year later, Amie was ready to discuss surgical possibilities, but still very adamant about not wanting the tracheotomy redone. Amie was seventeen years old now and very much had say in her medical care. As it turned out Dr. W was gone on maternity leave and her replacement, Dr. P, happened to agree with Dr. T’s assessment of putting the tracheotomy back in only for the surgery and recuperation.
Amie (and her parents) had been led to believe by all the Doctors through out the years that after all her reconstructive surgeries were completed that she would look "beautiful" or "normal". Dr. T told her otherwise. His assessment was that he didn’t feel he could give her a look even near my appearance. (Remember I too have Treacher Collins Syndrome, but a much milder case.) Dr. T was being very truthful. Why had not all the other Doctors done the same? Amie respected and accepted Dr. T’s honest assessment of what he thought he could do for her and decided to move ahead with the surgery.
Surgery was supposed to have been done in early June but due to scheduling conflicts, it was not able to be done until July. Amie started as a freshman in college only six weeks after she was released from the hospital. The surgery was the longest Don and I have ever sat through with her, 13 hours long. It went very well considering the length of time that it took. Dr. T decided to do all he could during this one surgery, as he suspected Amie would not come back for a follow up surgery. He was right. Amie said after she finished her recuperation that this was her final look; if anyone else wasn’t happy with it, that was THEIR problem – NOT HERS!
It’s been almost three years since that surgery was completed and Amie still feels the same way. Amie does know though if she ever changed her mind that Don and I would do whatever was necessary to help her achieve what ever she is after.
Amie has seen Dr. T a couple of times since her postoperative visits. When he found out she was a Communication Disorders and Pre-Med major he had invited her to come in and watch as he did some surgeries on a couple of occasions. Dr. T had given her a standing invitation to come in whenever she can. Between school and work and the Doctor’s schedule it hasn’t been as possible as Amie would have liked. None of the adverse things that Amie had gone through throughout the years has shaken her desire to help other people, if anything, it has strengthened that desire even more.
I hope that this synopsis has helped you understand how Amie has reached where she is today medically. There is a lot more that Amie had done to her medically but if I wrote everything this would be a book. I merely touched on a few things chronologically to give you a perspective of what a child with medical challenges goes through as they grow up from a parental point of view. In writing this history, I realize it sounds very negative, for that reason I have chosen not to use any of the Doctors names or Facilities names. Positive things did happen for Amie, it just for the most part isn’t very apparent in this discussion. Amie had a lot of wonderful people who provided medical care for her throughout the years and who gave her lots of encouragement along the way and we all appreciated it very much.
