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My daughter, Elena, is the second
of four siblings. During my pregnancy I didn't have any type of problems, neither
morning sickness nor heartburn, and none of the typical nuisances that most pregnant women
have. The childbirth went to full term. She was born in podalic but without any complications. Her test of Apgar was 9; she sucked the breast just to be born in the same delivery room, and during the days that we were in the hospital nothing made us suspect that the baby had any problems. When we arrived home we noticed that the baby cried often and only sucked well on the baby bottles of serum that we bought for her at the pharmacy. We were constantly changing the nipples of these bottles and also we changed several times of formula because of not being able to suck well. We had to incorporate formula in the first few weeks of the birth. We amazed when we left her in the cradle, Elena opened her arms with agitation, and gave the sensation that she believed that she would fall down. She cried and she tried to hold on to our clothes with desparation. She didn't gain weight and just to take the baby bottle made her cry constantly. She had reflux and seemed to have some type of intestinal pain. The pediatrician told me that it didn't matter that she wasn't gaining weight, that the worst thing would be losing weight. She was almost crying constantly by day and at night until the 3rd month. When leaving on vacations to the beach she stopped crying and she began to gain weight; coinciding with incorporating cereals without gluten in formula. We began to give her the food with a tablespoon. Her development was absolutely normal; at 2 months she held up her head; she made the oral sounds of any baby, etc.; and starting from the 5th month began to sort of stop in her development. She had divergent strabismus from her birth and we took her to the ophthalmologist, who told us that she would probably fix her sight later and not to worry that it was too small, but when we offered to her some toy she didn't know where it was and she made a kind of "sweeping" movement until her little hand collided with the object and then she grabbed it. For some months we used ocular therapy, alternating both eyes. Later when we decided surgery for strabismus almost everything was solved. She began to correct her strabismus herself little by little. Now she only averts her left eye during the last moments of the afternoon when she is already very tired. When she was 7 months we noticed that she didn't stay sitting, compared to the development of her older brother; and with my insistance with the pediatrician, he told us to see an orthopedic surgeon just in case the child had some problem in the hips and because of this could not stay sitting. The orthopedic surgeon was the first one that told us that Elena had a great psychomotor and sensorial delay. Starting from this moment we went from one neurologist to another obtaining the most diverse opinions. The first one told us that she had psychomotor delay and that her EEG indicated that she could have seizures and because of that he prescribed medication with Mogadon pills. With 9 months we began to make early stimulation and Elena began to improve considerably. The next neurologist told us that he believed, because of the clinical features of the child, that she could suffer from "Happy Puppet Syndrome"; this was what the syndrome of Angelman was called years ago. He said that we should stop using Mogadon and he told us that she had to take Conductasa. Stopping the use of the Mogadon, Elena suffered a syndrome of abstinence because the Mogadon had produced in her a great dependence. She balanced sitting on the floor, she cried and she didn't want to drink or take any food. We called the doctor and he said to put her in Mogandon again and we stopped the use of Conductasa. They took diverse tests; analysis of chromosomes; EEG; lumbar puncture; and all of them were with normal results. When carrying out the lumbar puncture the child suffered terrible headaches that passed quickly when giving her Aspirin (nobody told us that we should be giving her Aspirin to avoid these pains); only after we called the person that made the early stimulation, she told us to quickly give her Aspirin and the pain would disappear. After the puncture Elena lost many of the abilities that we had achieved with the early stimulation; but a few months later she recovered everything. A new neurologist told us that we should stop the use of the Mogadon little by little and recommended Nootropil for support therapy, and he explained to us that what Elena had had was a syndrome of abstinence. We could stop the full use of Mogadon but a small quantity would still have to be used since she had the syndrome of abstinence again. We had to change to Diazepan drops to be able to slowly stop the usage drop to drop every 3 days. In May of 1987, Elena was going to a specialized nursery, and one day, they told us that she had had a seizure; they didn't know exactly if it had been a tantrum or a comicial seizure; soon after this episode the doctor prescribed for her Depakine solution. In June of 1987 they removed her tonsils and adenoids and they put tubes in both her ears. Until that moment Elena had suffered constant throat infections and because of that she was taking antibiotics almost continually. She recovered incredibly well from the surgery; she was only one day in the hospital. During the same hospital stay she began to drink as if there was no problem. Starting from this moment Elena has barely had any throat infections. Elena was 6 years old and she continued having the normal EEG, so the neurologist decided to slowly stop the use of Depakine. When the levels of Depakine were very low she had an abscence. We gave her the appropriate quantity for her weight of Depakine solution again. The usage of this whole medication was stopped in September of 1995. We have used different drugs to try to control the hyperactivity, the last one is Risperdal pills of 1 mg., and it seems to control it quite well. The only side effect that up to now we have observed when taking Risperdal is that it has increased the salivation; although Elena doesn't dribble, from time to time it is necessary to remind her to swallow the saliva. Elena in the 12th month could stay afoot for some seconds; if she was seated in the walkway and was offered some toy from above. In the 15th month she stayed afoot by grabbing seats, armchairs, etc. In the 18th month she took her first steps, and finally, in the 22nd month she began to walk alone. She controls her sphincters for the day from 3,5 years old. When she begins to walk independently she is afraid and very often she falls to the floor. Elena's physical therapist offers us the trick of giving her a small handkerchief so that she takes it in her hand and feels secure and this trick works. When taking an analysis of her chromosomes again, carried out with a technique called of bands, they told us that they believed that she could suffer Angelman Syndrome, but that due to the small size of the deletion area, they could not confirm it and they proceeded to send samples of blood to the United States and Japan, and it is in this last country where they confirmed that Elena indeed suffers a microdeletion in chromosome 15th. In 1995 an analysis was taken again to confirm this diagnosis; this time with the analysis of "Methylation". In the year of 1997 it was confirmed by means of the citogenetic study "Fish". Elena doesn't suffer hypopigmentation and she doesn't have seizures. In these moments Elena is learning the language of signs, she uses at the present time around 30 signs, and we are also combining this language with pictures. Elena makes the sign and she also chooses the picture corresponding to what she wants and she gives it to us. She can pedal a tricycle, special for her height. She can go upstairs or downstairs without any problem. She runs. She eats alone (whenever she likes the food). She controls pee when the hot wheather arrives and always taking care that there is not the ingestion of liquids from approximately 7 in the afternoon. Elena only has had problems of sleep in the first three months of her life, then gradually she was increasing the number of hours of sleep, until arriving at the present time and now she sleeps from 8:30 - 9:00 in the night to 7:30 - 8:00 in the morning. When Elena began to sleep in a bed and she could get up and down off it and walk alone, we had to close the door to her room, to avoid her leaving when we were sleeping and have an accident. Since August of 1995 she sleeps with the door of her room open and although she is awake, she doesn't leave nor does she get up from the bed until we call her. Elena began in Risperdal from march 1998 to November 2001, because she had several episodes in which she pulled out her eyelashes, fingernails and toenails too, this was one of her best periods of her life because she paid attention in school and at home and she was more peacefully because of that her integration in daily life was a success, for the first time we could go with her to many places that before began with Risperdal it was almost impossible, like cinema, children shows, etc. etc. From the end of 2000 this medicine seems to lose her effectiveness and the side effects began to appear. From October 2001 Elena isn’t in Risperdal, the side effects that we could see are:
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increase in weight The symptoms worsen after we began to decrease her dose of Risperdal
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Disfiguring facial grimaces All these side symptoms are caused when you are in neuroleptics for many months and this is that its known like Tardive Dyskinesia. Fortunately during 11 months that she isn’t in Risperdal all these side effects are disappeared except light tremors in her hands that she has specially when she needs to go to pee or poop. Elena was without any medicines only a week and like her aggressive behaviours didn’t disappear her neurologist advised Clonidine in order to try to control these behaviours. Unfortunately this medicines didn’t work and again her neurologist recommended a new neuroleptic Zyprexa which is that in these moments she is taking, Elena is under control with this medicine but she isn’t able to control her high level of anxiety and impatience, being these this because of that we have to be at home with her and she isn’t be so socialized like we would like and anyway we know that sooner or later Zyprexa will cause to her the same side effects like Risperdal. From she was around 2 y.o., we began to try she was potty-trained during the day, she got it when se was 3 y.o. and half, she ask for this given gentle taps in her abdomen. At night we always put her nappy, every night we put her 2-3 glycerine suppositories in order she got poop before she took a bath and she only had some “accident” we didn’t have had too much problems with this. In summer 1997, Elena began to control her sphincters at night, every day she woke up dry everyday BUT when winter arrived again she began to woke up “wet”. During all the winter she needed wear diapers at night and again when summer arrived she woke up “dry”. This happened for 3 years. In summer 2001 again she woke up “dry” BUT when winter arrived she continued “dry” almost everyday but it were more successful days than “wet”. From then Elena didn’t wear diapers at night. From around 2 months didn’t put glycerine suppositories because Elena is taking a new product with her breakfast “Agiolax” http://home.intekom.com/pharm/byk/agiolax.html . She takes every morning a full spoon with her breakfast and when she needs to go to the lavatory she gives some taps in her abdomen. At this moment we can say that Elena is completely potty trained day and night and this had been and important step in the maturity of our daughter. Unfortunately Clonidine didn’t work and again her neurologist recommended a new neuroleptic Zyprexa . Elena was in it from December 2001 to April 2004, Elena wasn't under control with this medicine and she wasn’t able to control her high level of anxiety and impatience and she began to have side effects like with Risperdal, because of that we decided to discontinued this medicine. Actually Elena didn’t take any medicine (only Agiolax for constipation) and she only has some episodes of bad behaviors when the time of menstruation is near.
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