Asia’s Story

California 188When Asia was born I was so in love! I just remember loving her so much-she was an angel, and you could tell. Nothing went wrong with the pregnancy or delivery. She was past due but no complications. She was a beautiful little girl. Most of the new born screenings went great-there were a couple oddities. Something minor was she had a couple of odd skin patches right about her lip-almost looked like 2 hearts. These were tested and were nothing to worry about. On her backside-where the tailbone is, she had a little hole (sacral dimple). The other concern was her hearing tests. They could not pass her on one ear. They claimed it was probably liquid that still needed to clear out and I would have to come back for a re-test, not a big deal. She was a little jaundice but, relaxing in the sun a bit kept her from having light treatment. Her tongue was tied down-something she did have clipped later on. She ate really well. Now, to think back on it-she ate surprisingly well with her muscle weakness.

We continued the hearing tests. This is somewhat of a sore subject for me. We went in numerous times and for one reason or another they could never get the test done. There were problems with equipment, problems with her holding still etc. Nonetheless, they could never get a reading.

Asia gained weight like crazy. After 3 1/2 months, I used to take her shopping and people would tell me she was they cutest thing they ever saw (because she was so big); when I look at photos of her now I never remember her looking that “fat”. I inquired with doctors about the weight and there was no concern. They felt she was a good eater. I was breastfeeding and they told me I had “rich” milk. At 4 months old, my brother asked me if “something was wrong” with her and I thought what are you talking about? I didn’t see it.

At the age of 1, Asia seemed to be developing normally. She was a very large baby but she did start to lose some of the “chub” when she started getting active. Asia did not like “tummy time” and never crawled like normal babies. She did scoot across the floor on her bottom-and she was fast! Asia sat and rolled at an average time for babies and started pulling herself to a standing position. She learned to walk along furniture just fine and walking alone came a little later then average babies but, not so long that we were concerned. She was a teaser, rough and feisty. I remember her breaking the standing mirror we had in our bedroom because she liked to bang it against the wall. Something else that stands out was that she could dribble a soda can between her legs-making it bounce into the air really fast and her concentration was amazing.

She began to have sleep disturbances; she would not sleep alone and cried a lot at night. Asia had severe constipation problems and she was breastfed. I tried to avoid foods that may have been causing problems such as dairy. She was starting to say a couple words-which seemed normal. I distinctly remember her repeating “hat” and tapping her head. She would say “hi” to people when we were out. She had words she doesn’t say anymore-they seemed to come and go. Just to document, we did keep up to date with her immunizations-she got sick and ear infections a lot so we did them to be safe (I now slow them down). Asia had ear tubes placed and had them again a second time later on. Asia had blocked tear ducts and she has blepharitis. Her eyes watered a lot. Massage may have helped her blocked ducts, because she grew out of that.

Asia’s hearing is a bit of a mystery. We have always known she could hear us but we do not know how well. Asia never passed her hearing tests. She could respond to us and follow instructions. We tried a hearing aid which she refused and we have also tried signing, and different ways to communicate with pictures and the iPad. She has never clicked with any of it. When it was time for Kindergarten the school audiologist passed her hearing on both ears (this denied her entrance to the school for the deaf). After that, we had an ABR (hearing test) while she was under for another surgery and she tested positive for hearing loss, no response from her right ear.

At 0-24 months the things we knew about Asia were; she had blocked tear ducts, blepharitis, hearing loss, never crawled, tongue tied, sleep disturbances, and severe constipation.

At the age of 2, Asia started having grand-mal seizures, and shortly after started receiving prescription medication for seizures. Medication stopped the Grand-mal seizures but she then continued having many other types. Next were the Atonic or drop seizures. She could collapse at any given moment, hitting her face on furniture or the floor. She continued with many other types of seizures: Simple Motor, Tonic, Clonic, Atonic, Myoclonic and Absence. A stay in the hospital with non-stop seizing for an entire week-where she stopped eating and drinking got us yet another type of medication. She continues to have seizures today at the age of 7.

From the ages of 2-6 Asia became noticeably delayed. We learned she had severe sleep apnea which resulted in removal of her tonsils and adenoids. Things improved a lot after that. She had many tests done to see if they could diagnose her. Spinal taps, biopsies, MRI’s, EEG’s, sleep studies, you name it. After 5 years and so much testing, at the age of 6, her neurologist received approval for a genetic test, the cytogenic microarray which gave us the diagnoses of 2q23.1 microdeletion syndrome. Today she is very low-tone, unbalanced, uncoordinated and tires easily. She requires help on stairs, getting into a car, and most activities. She is non-verbal (only a handful of words that anyone could understand). She has a high tolerance for pain and we never really know when she is hurt-if something happens to her she squirms and becomes silent-often looks like she is in shock. She doesn’t really initiate “play” by herself or with others-she is just beginning to show signs of this. She likes to hand other children toys and then watches them play. She does not write, or show any indication that she knows her colors, letters, numbers or name. She does not dress herself, brush her teeth, eat with utensils or toilet trained. She continues to have seizures, which have slowed. She is very inappropriate when it comes to screaming, tantrums, loud laughing, throwing objects, and grabbing at others when they walk by.

All of this seems a little overwhelming but we love her to pieces, we wouldn’t know what to do without her. She is beautiful, sweet, funny and learns new things all of the time. Asia is super silly and feisty and there is never a dull moment. With her seizure disorder there is some concern that her medication may be contributing to some of her delays in speech and development. We hope that she will be able to develop and grow. To name a few things she loves; her iPad, Elmo, Cousins, Grandma, McDonalds, a magSAP_MyFamPics_2013-30edunetic draw board, magazines, books, the mall, and amusement park rides. Everyone always comments that it seems like she is “in there”-she understands and knows so much more then she can communicate. Her body just doesn’t do what she wants/needs it to do. For the future, we hope to learn more about this disorder, ways it may be treated and methods that may help Asia and others.

Update 2016

Asia has had a great year! She began a new seizure treatment and it has changed our lives dramatically. We have fully weened her off of all prescription seizure medications-we have not seen one seizure since November of 2014 and it has been the best year yet! If you recall, just over a year ago Asia had been basically non-verbal, non-communicative, sick, and very inactive. She is now learning to speak new/more words every day, putting words together and recalling information she has reviewed in the past. A school teacher told me that Asia grabbed and hugged a classmate from a previous year and called them by name! They didn’t even know she knew their name! She pointed to a letter “G” the other day and said “G”. This is huge for us! She has become “teachable”, she can mimic words you are saying. You can actually have a conversation with her-a fog has been lifted and we are really getting to know who she is, what she likes/dislikes, and needs. She is completely active (wants to go outside all day long:), I have respite care on double duty right now because she can’t stand being inactive. She used to just lay in bed all of the time, watching her iPad-lethargic. That is not her anymore. There was an immediate recognition of her change last year from neighbors, teachers, bus drivers, friends and family in regards to behavior, physical activity and social interaction. She used to throw insane tantrums, hitting, pulling hair, and throwing things at home and at school. That has all changed, except for the occasional tantrum and when she is trying to get your attention, but she is a child:) Asia has goals at school, and a lot of these goals have been repeat goals from year to year. This is the first year she has actually met some of those goals!  She is in less pain, she’s happy, she’s growing, communicating and she’s progressing. Most of all, it has given me hope for her future and the things she may be able to accomplish. We love Asia so much and it has been so fun learning who she really is. She loves holidays, parties, the park, swimming, school, making new friends and shopping. You give her a dollar and she says “mall”. 🙂 We can’t wait to see what this next year brings.

 Asia turns 10 in April.

Deletion size: 2.8mb

Genes affected: PABPC1P2, ACVR2A, ORC4, MBD5, EPC2

 

Asia9-4rare

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