by Paul and Dawn
Where do I begin? Dec. 22nd 1995, Dawn was two weeks overdue and the doctor planned for an induction at 6 A.M. that morning. She was induced, and approximately four hours later we had a beautiful baby girl. Dawn’s pregnancy was very normal, she was the envy of many women. Her Apgar scores were 9/9, everything was fine. Dawn had decided to breastfeed. They brought Megan in that evening to try for the first feeding. Megan had a very difficult time sucking and never took to the breastfeeding. Later that evening into the early morning, Dawn was awakened only to find out that Megan had been taken to NICU (Neo-natal Intensive Care Unit). Megan’s temperature had dropped, and her lack of sucking ability plus the doctors’ concern for infection gave her the ticket she needed to get placed in the NICU. As a precaution, Megan was in the NICU for 5 days. Born at 7lbs-7ozs she looked like a monster next to the many 1 and 2 pound premature babies that were already there. We were highly stressed, it was our first child, no one really knew what was going on, and we were just scared. Not exactly the way you want to be initiated into parenthood.
Finally, after five long days Megan was released, but with an Apnea monitor. They felt her breathing was slightly irregular. To have a baby home for the first time and to have the added stress of wrapping this monitor belt around her ribs before going to sleep. It never really went off, except for the one or two false alarms when she moved and the connection was broken. It’s a lovely sound to wake up to in the middle of the night; it truly kept us sleeping on pins and needles. The monitor finally left after a few weeks, and there has never been any issue with her breathing since then.
Megan began to bottle feed, but very little at one sitting and very slowly. One week later we brought her into her first pediatric visit. Megan had been slightly cranky, or had what we thought might be colic. (It lasted for six months after that.) The doctor did a routine reflex test and observed that her left arm had no reflex. She would pick it up and it would fall limply to her side. We nervously went through many tests and found nothing. Over the next several weeks it did get better and finally back to normal. So far this has only been Megan’s first week of life. In retrospect, these could have been beginning signs, but to first-time parents and un-suspecting doctors we just moved on.
Dawn and I carefully followed her milestones. We would read what her progress was supposed to be and then watched to see when it would happen. I remember each new month reading "what your baby should be able to do". Megan rarely accomplished anything early or on time, but somehow managed to come through with the milestone just under the wire. It seemed like forever before she even made her first smile. I think she was three and half months before she actually cracked a smile. Even with that first smile, the smiles were very far and few in-between. People would often comment on how serious she always looked. If we look back on pictures, we now notice her serious look and her floppiness. Her head was commonly off to one side or the other, and she was looking very mellow.
By six months old she was able to sit up, but even that was not very solid. Megan continued to go for her regular doctor visits and the doctor would always ask questions about her milestones. I think back on it now and realize that there were some questions that we answered in a positive manner that we probably should have answered "no" to. We began to notice around nine months old that Megan would sit in one spot and just stay there. Even though she had just learned to crawl, she was very content to stay idle. At times she was so content that she would ignore any attempt from us to get her attention. She would just stare right through us. As we approached the one year old mark, our concerns started to build. We had her hearing tested, only to find out that it was perfectly normal. Tubes were placed in her ears due to the chronic ear infections that she had in the previous six months. The next step was to see a neurologist. At twelve months, Megan was not walking and showed no real signs of walking. She had very spaghetti-like legs. This is probably the milestone that bothered us the most and caused us to seek more answers with a little more aggressiveness.
The neurologist saw no immediate need for concern. He said everything was fine and that she was just delayed. He did suggest early intervention through Easter Seals which we did get Megan started on, but that did not satisfy our void. In the meantime we sought the opinion of another doctor (who is still Megan’s neurologist today). He was unsure, so he suggested three tests for Megan – an EEG, an MRI, and a standard chromosome test. One by one the test results started to trickle in…EEG came in normal, the MRI was also normal, and then we got the call for the chromosome test results. I can still remember that day as if it was just yesterday.
We had just gotten home from work and had a message to call Megan’s doctor (of course when you get messages like that they are never good). We quickly called back. The doctor was brought to the phone and started to relay the message that they had found something in the test results that was extra genetic material. They were continuing to do tests but wanted to talk to us at Boston University where the tests were taking place. I can still see my wife’s face watching mine as I was taking all this information over the phone. After hanging up and explaining what I just heard, it was like the world just stopped. It was kind of a numbing feeling. We had always wanted to know what was going on, and now we had something, but now I didn’t want to have the answers. It was a bittersweet time.
We made the appointment with the geneticist and brought Megan down to Boston University to meet with him. He explained what he had found preliminarily; the tests were not complete so he could only speculate on the actual diagnosis. He left us that day with only thoughts of Megan having "something". They were not sure what, but based on the extra material on the 15th chromosome, maybe it was Prader-Willi syndrome, and that was going to be tested further to see what the real results were. So we went home armed with that information, only to go and research the disorder and have fear driven into our hearts. It was a very tough disorder to handle, and yet we still didn’t know what was going on. After what seemed to be an eternity, we got the call to meet with the geneticist once more to discuss the final result. As you all know, it was not Prader-Willi, but indeed inverted duplication of the 15th chromosome. So now he had very little to share with us, except for the gloom and doom of mental retardation, no speech, and the expectation of a very depressing quality of life for Megan.
Next began our journey with Megan. We tried to put his words aside and start doing some research. Megan was now qualified for more services with her diagnosis, so we continued to do what we could to expand her learning, although progress was very slow. Megan was approximately 20 months old by the time we got the actual diagnosis. She was still not walking. Slowly she made progress and by 22 months she was starting to walk. This was the start but she was very clumsy still – at least it was progress. Her speech was still close to none. She could say "ma-ma", "da-da" "all done" and "more". Ages 2 to 3 seemed to be tough times with Megan. Her progress was very slow. Her processing of ideas seemed to be minimal, if any at all. Her speech remained the same and her walking was still clumsy at best. She could climb up and down stairs but only with assistance. Self-help skills were also lacking. She could not dress herself and feeding was also minimal, although that was starting to get better and she was beginning to use a spoon on her own, but not with much finesse. We continued to learn more and more about Megan and her ways. She definitely had an aversion to loud noises and certain touches. She definitely had sensory issues that were surfacing.
On a positive note, Megan was a good sleeper at night and was a relatively mellow child. Her behavior was not yet a problem, although anxiety in crowds or in public areas was starting to increase. Some of the bigger changes started to happen around 3 years of age. Megan, all of a sudden, began to be a parrot. She would repeat almost anything that she heard. Her articulation was not the best, but it was progress and it was nice to hear her voice. Megan’s continued with speech progress and actually put two and sometimes three select words together. Her walking became stronger and not so clumsy. Her eating skills became more refined, and she has started to show some thought process in everyday activities. Another thing that we noticed was her ability to anticipate sequential events that she was used to. For example, if she was watching one of her favorite videos (Barney), she would start to say the word "duck" five seconds before the duck would actually appear or get mentioned on the screen. She could also anticipate other sequential things in her daily routine, such as when we would get her down from the table after lunch, she would start to say "nap", "nap". This was all very welcomed progress.
Megan turned 4 years old in Dec. of 1999. In parallel to Megan’s progress, we found Dup15q Alliance (then known as IDEAS) at this time also. This was a huge find for us. In the earlier years of Megan’s diagnosis, there was so little information on the web, so this growing group was very welcomed. We became fully engaged and learned much, and shared much with parents who had similar situations. Although our children can be very different in the severity or mildness of this disorder, in some way, they are still very similar and connected.
Megan continued to grow and as the years started to go by, she now had a sister and a brother. This made things very interesting and kept our lives very busy. Megan progressed from her pre-school setting to an elementary school setting. She is still attending a class designed for autistic children. Her schedule is five days a week from 8:30am to 2:30pm. School has definitely been a plus for her. She continued to show slow and steady progress in her goals and her sequential memory continued to amaze us in her songs, videos, and daily routines.
From elementary school she continued on to middle school and now high school. She is still within the “life skills” type of class setting with a one on one helper. Megan still knows her daily routine well and craves the routine. Now in high school, she has also “developed” into a young lady with the early onset of puberty. She did start her menstrual cycle, but that has been very sporadic at best. She can manage the mechanics of going to the bathroom, but does not always ask to go to the bathroom. When she goes to bed we definitely continue using a pull-up as she is not completely potty trained. Also with the introduction of puberty has come the small seizure activity. Up to this point in her life we had not seen any seizure activity, at least not that we were aware of. Sometime after puberty, we started to notice some very small, and short absent seizures. These would be approx. 4-8 seconds and she might lose her balance, or fall, but was never extreme. The number of times we would see this started to increase. When Megan was 15 years old, we were awakened in the middle of the night by Megan having her first Grand Mal seizure. To date, she has not had a second one, but this is something that is constantly on our minds.
Each day has its challenges still, but it is all worth it when you see her smile back at you, or when she walks up to you and requests a kiss or a hug.