Hello to anyone who has an angel in their life. I will start at the beginning. My daughter Brittni was born with Angelman Syndrome. I had a completely normal pregnancy and there was no detection of any abnormalities. Brittni was a baby who had colic for almost two and a half months. She cried twenty-three out of twenty-four hours in a day. I thought I was going to lose my sanity. Thank you to God for giving us as much as he knows we can handle.
Brittni suffered from chronic ear infections from about three months on. They lasted until she was about twelve years of age. She had constant tubes put in and out of her ears to help with the infections. Furthermore, she had her tonsils and adenoids out at two years of age. She also had Roto virus and ended up in the ICU for almost a week. At four years of age she had an onset of seizures. I had taken her to six different neurologists and all of them told me that there was no seizure activity showing up on her EEG's. The neurologists also did not have a definite diagnosis. They looked at me like if I did not know what I was talking about since I was not an actual doctor. No, but I am only her mom and I did not know anything. I was furious. After that, she started school in the birth to three program at the ARC in Miami. They were wonderful there. She received lots of therapy (speech, occupational, and physical). Then at three and a half years old she entered the public school system for pre-kindergarten. She had the most wonderful teacher. I will remember her forever. Brittni thrived a lot in this program. One day I was called that she was rushed to the hospital because of a grand mal seizure that lasted almost five minutes. She had a couple of them in a row. I called a dear friend at the time and she referred me to a neurologist at the hospital. He did not work for the group I had originally taken her to. Thank God. He came to see her and said "Mrs. Hart I will do the best I can to help your daughter, but medicine is not an exact science so we will see what happens".
The doctor followed up on her in his office. After a few visits he stated to me that he had studied in college a certain type of syndrome children had, which was called the Happy Puppet Syndrome. He told me to research it, and see what I come up with. Once I started researching it hit me right in the gut and the heart. I knew this is what Brittni had.
I asked the doctor for a referral to take Brittni to a specialist in Gainsville, Florida (Shands Hospital). Dr. Charles Williams. He took one look at her and clinically diagnosed her with Angelman Syndrome. We had done some genetic testing, but it had come back negative. He told us that there was no testing at this point that could detect the malfunction she had, because it was so minor. We could have genetic testing done again in several years. At age fourteen we took Brittni again to the University of Miami Genetic dept. They screened her and did further genetic testing. They had to send her tests all the way to Nebraska to find out results. At the time, Nebraska and Baylor university were the only places that did this testing. Several weeks later we went back to the genetic clinic and the doctor sat down with us and discussed all of Brittni's results. He told us she was diagnosed genetically with Angelman Syndrome. She has the UBe3a type which is a malfunction in one of the genes.
From that point on Brittni seizures, with new medication, slowly started to get under control. Little by little they became less frequent. I trust this doctor so much, and he is still her doctor to this day.
Her ear doctor, her pediatrician, and her dentist all treat her as if she was their own. I would not trade them for anything.
Brittni, also has a disorder called Pica. She eats everything non-edible. You name it she has ate it. It use to scare me, but not anymore. I am so use to it, I have to keep a sense of humor about the whole thing other wise I think I would cry and worry sick. She has eaten: paper clips, crayons, shampoo, conditioner, shaving cream,glue,rubber gloves, rubber bands, plastic bags, tin foil, charcoal,play dough,finger paint,pencils, pens and so forth. Thank God again nothing has happened to her. She is so fast, sneaky, and clever she does this right under your nose while looking at you. She could probably be the worlds best pick pocket.(just kidding)
Brittni can say up to 25 words on a consistent basis. She can also communicate with the Pecs system, and she knows a drop of sign language. Most of the time she just points to what she wants. I thank this progress due to a very special speech pathologist she saw for about eight or nine years.
Brittni is also a wiz at the computer. She can use the computer appropriately, just like you and I. She knows how to go to all her favorite sites such as: Disney channel, Nickelodeon, Puzzle sites, and her favorite favorite is YouTube. She loves all the videos.
Brittni can also use the DVD player and VCR player appropriately. She knows how to put in her movies, and take them out. She can use the remote control to switch channels on the television. She is able to make a bowl of cereal for herself, make a sandwich,and put a t.v. dinner from the freezer in the microwave with supervision.
Brittni is now 17 and a half. She has been seizure free for about 6 years now. Her ear infections are pretty much gone. She only occasionally gets sick. She hates going to school. It is very difficult getting her up in the mornings. She is not a morning person. Therefore, she misses more school then she goes. I wish I could find a solution to this issue. I have tried everything. Moreover, Brittni loves going to the movies, blockbuster, bowling, golf, swimming, eating cookies, and long drives.
I joke with her caretaker all the time. If we had thousands of dollars I would pay her to drive Brittni around the country, and Brittni would be the most content Angel in the world.
I do not know what the future holds for Brittni at this point. I am now in the process of looking into day programs for her as she will be eighteen in a few months. I will have to do paper work through the court to make myself her legal guardian. She can stay in public school here in Miami until the age of twenty-two. All I do know is that I will be taking care of Brittni forever and will do all I can to make her life a happy one.
