Chromosome 3 Disorder Logo

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01/12 
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Auri

Karyotype: 46 XX, del 3q(26.33-28)
DOB:  Sept. 5, 2014
Parents: Matt and Kia
E-mail:  This email address is being protected from spambots. You need JavaScript enabled to view it.

 We found out we were pregnant at about 26-30 weeks with a baby girl, and that she had a chromosome 3q deletion. Prior to 26 weeks, everything in the ultrasounds was fine. Then we noticed that she was really small for her gestational age, and that her head was even farther behind than that. So we had an amnio, and the results were thus: 3q26.33-3q28 interstitial deletion. The pregnancy went fine, she had IUGR, and at 36 weeks we delivered by C-section because she stopped growing in utero. She came out beautiful but tiny, at 3lbs 12 oz and long 18.75 inches. She had trouble breathing on her own and was intubated for one week, then CPAP for a week, then just oxygen. She was in the NICU for one month to the day and sent home on oxygen, with follow-up appointments with a lot of different specialists.

Heart: She has a bi-cuspid functioning aortic valve and an enlarged ascending aorta, both of which are not causing problems and she is expected to outgrow.

Lungs: Not exactly sure, but she is on oxygen; her lungs used to be premature but since have developed nicely. She had a bronchoscopy at 5.5 months old and it was found she has laryngeal myalgia, and our pulmonologist thinks surgery will solve her oxygen problems and feeding problems!

Feeding: Very difficult to get large amounts in, but she is exclusively bottled fed as of now. She is gaining weight. She has terrible reflux, to the point that she will projectile vomit and can't catch her breath. Nexium has not fixed it.

Hearing: She has failed all her hearing screens; we meet with an ENT soon to discuss hearing aids. No infections but she does have fluid.

Neurology: She is delayed, I think it is called global developmental delay. She has hypotonia and at 6 months is still floppy with poor head control, but she is getting stronger. She smiles, laughs, coos and claps her hands unconsciously but she does not seem to know we are there, at least by sight or sound, although she reacts to our touch and kisses. She does not smile or interact in response to us yet, but we are hoping she will! Also, she has partial complex seizures, right-sided. We are trying to get them under control, but they are not harmful in any way. They do make her very tired for the rest of the day. She has them in groups of 5-6, three or four times a week.

She is a joy and sleeps a lot, but is recently more alert than usual. My son (2.5 and genetically sound) absolutely adores her.