JENNA – 13 YEARS OLDRetrun to 22q Stories
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Jenna was born in December 1999. I had a normal pregnancy, she was induced 10 days early for fear I would have a very quick labor. While in labor, Jenna was holding onto the cord and there were several times she flat-lined, however, she was born naturally and seemed like all was perfect. She weighed 6 lbs 5 oz.
The next morning the pediatrician on call heard a heart murmur. He was slightly concerned, but said they usually correct themselves in a few days. By the time we saw our regular pediatrician, he could no longer hear it. However, at 18 months he heard it again when she was sick. We were referred to a pediatric neurologist, who did an echo, and he said all was fine with her heart.
Within three days of Jenna's birth I noticed she was doing a strange twitching. She would twitch one arm, then the next, then one leg, then the next leg, and it would repeat itself over and over. She only did this while asleep. I video taped her and took it to our pediatrician and she was diagnosed with benign neonatal sleep myoclonus. Something they said she should outgrow in her first year of life, which she did.
Jenna never babbled as an infant. She wasn't saying words like she should. I had had two children before her and began to worry she had something wrong with her and I got her in the early start program with speech & language. They diagnosed her with Speech Apraxia. I also had concerns that she crawled late, walked a little late, and didn't seem to have much strength or balance. The early start program also put her in OT for her weak muscle tone and delayed motor skills. Jenna finally started talking around 2 1/2 years old. She had pretty severe hypernasality. The speech therapist worked with her on this.
As she entered elementary school she continued to receive speech and OT. She also struggled with math and reading comprehension. When she was in 2nd grade I asked the school to do testing on her for a learning disability. Her IQ test came out low at a 72. They put her in resource classes, changed her IEP a bit, and began taking her out of class to help with math/reading. She can read wonderfully, however the comprehension isn't there. She can also do really well with spelling.
At one point a speech therapist recommended she see a specialist for her hypernasality. We took her to an ENT who checked her out and said she was fine. He simply said some kids have that type of speech. In 2012, when Jenna started 7th grade, we moved to a new town with a new school. Her new IEP team suggested that she may need a more formal diagnosis and recommended she see a neurologist so that she could get a "label" and have the services she needs carried out through high school. They were concerned because she only had a speech and language IEP and they felt she might need more. I spoke with her new pediatrician and she agreed that would be a good idea. When Jenna met with the neurologist, she immediately suspected a chromosomal disorder and requested we do a chromosomal microarray. She said she noticed some facial features on Jenna that made her suspect this, combined with her learning disabilities.
We took Jenna to the lab, had her blood drawn, and about 4 weeks later found out she had 22q.11.2 deletion syndrome. It is good to have an answer, however frustrating that it came in so late at age 13. I sometimes wonder how all of the doctors, teachers, numerous speech therapists, and occupational therapists never saw this over the years.
I am now in the process of setting up appointments with specialist to check out her health in all of the areas she may be affected. She suffers from frequent leg/joint pain, and also a possible mood disorder. I'm thankful that her new IEP team suggested we get an official diagnosis for her, and thankful that her pediatrician agreed and sent us to the neurologist.