[ Post a Response | 22q Deletion Interest Board ]
Posted by Jody
on 3/31/2009, 7:41 pm, in reply to "22q11.2 distal deletion"
97.200.177.8
Sorry I didn't get a chance to e-mail you back. My wonderful 15 year old daughter has taken over the computer and deleted your e-mail address. So far out of the five children we have only the four year old has the 22q11.21 distal deletion syndrome. All the other children have been tested and have come back negative. Our 15 year old has a problem with spelling. It makes her reading a bit slower but she's getting all A's and B's in school. Our 11 year old son was diagnosed with congenital aphasia when he was almost 6. We had concerns with his speech from the time he was an infant. All the doctors had told us he would talk in his own time. Then it was his older sister was talking for him and he didn't have to. And we heard that he was old enough to do things for himself so he didn't have to ask us. Finally we had moved to a new town and were trying to enroll him into kindergarten and they went to do their assesment to see how much he already knew before kindergarten and they said we had a BIG problem. That's the first time anyone was willing to say something was wrong. Now his Pediatric Neurologist has passed away and we had to see a new one and this doctor thinks there is more going on that hasn't been diagnosed yet. He is thinking that our son may also have Aspergers Syndrome or High Functioning Autism. We will wait and see what the outcome is for him. Our third child is also a daughter. She's 8 years old. No medical problems with her that we know of. Then there's the four year old with the deletion syndrome. I got sick with HELLP Syndrome and she had to be delivered at 29 weeks gestational age. She was one pound thirteen ounces and was thirteen and a half inches long at birth. The doctors said even for her gestational age she was small. We spent 17 weeks in the hospital and came home with an apnea monitor and a feeding pump. She needed three blood transfusions in the first six weeks. She was diagnosed with GERD and they were afraid she would asperate which is why she had the feeding pump. She also had larengiomalasia, low birth weight, torticollis, failure to thrive, and a few other things that I can't remember off the top of my head. When she was 20 months old she had three Grand Mal seizures in less than 8 hours. She was Staus Epilepticus meaning she wasn't coming out of them on her own. When she would come out of one she would go into another one. That's when we got the diagnosis of Epilepsy. The doctors don't know exactly what caused them. We just had to have her tonsils and adenoids removed because she has moderate sleep apnea. She had 7 Central apneas, 22 Obstructive apneas, 4 mixed apneas and three Hypopneas. They also said her ECG was abnormal and occasionally she had abnormally-shaped P waves. She now sees her primary care physician, Geneticist/Developmental specialist, Gastroenterologist, ENT, Pulmonologist,and Neurologist. She is developmentally delayed and attends preschool. YES SHE CAN BE A REAL HANDFULL!! She was delayed in just about every area and received physical therapy,occupational therapy, and speech therapy. She does some of the same things her older brother does in speech. Examples include generalizing everything (she would call soap peanut butter) and when you would try to correct her she would repeat what she had said and look at you like "what? You didn't understand me?" She's getting better though. The last child we have is another little girl. She was born with a heart murmur. It's called a VSD. She was small also (5pounds 3ounces) but not too small. We had feeding issues where she wasn't gaining enough weight and had fallen off of the growth curve but that didn't last too long. She has been slow to meet milestones also. She's had physical therapy, occupational therapy, and yes speech therapy. She also generalizes things. Right now all fruit is an apple to her. (She's two years old) Her speech is delayed and the therapist is wondering how much she understands (Sounds similar to what we are going through with the four year old and our 11 year old son). I guess only time will tell what if anything they decide to say she has. Write back if you would like to and I Will try to keep the 15 year old away from the computer long enough to write down your e-mail address.
--Previous Message--
: I have an 11 month old son that was
: diagnosed with a 22q11.2 distal
: deletion today. The doctor said
: there are only 6 documented cases in
: the world. I am looking for any
: information I can find regarding
: this condition. My two other
: children are now being tested. My
: oldest also has Pierre-Robin
: Sequence.
: I know how important it was to find
: other families dealing with the same
: thing when we first found out about
: her PRS. I would like to talk to
: other families whose child has a
: 22q11.2 distal deletion.
:
: Thanks,
: Kristy
:
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