Leandra Rose

Karyotype: 46 XX, del 3p (25.33-26.1)
DOB: 4-15-2010
Contact: Lisa & Joe
Email:

Background

Leandra was diagnosed with 3p25.3 – 26.1 deletion in Oct 2011 (18 months old). We had the genetic testing done because she had universal developmental delays (approx. 50% delay) plus lack of eye contact & not responding to her name. We also have a 6yr old (Eliana) that has had no developmental issues. We have not had Eliana tested because we were tested & were found to not have any genetic issues.

Leandra’s History

– Born at 38wks via C-Section due to breech position & also severe IUGR
– Mom was 38yrs old & Dad was 42yrs old
– Weighed 4lbs. 12oz. with no medical issues at birth, no NICU, no oxygen, regular nursery
– Formula-fed & Pureed Baby Food, Eats Well, Sleeps Excellent, Very Content Baby
– Constantly congested the first 12 months; 2 ear infections
– At 8 months, noticed that Leandra is fascinated by light.
– Hospitalized for 2wks at 10 months due to an urinary tract infection & blood infection; no issues found with bladder or kidneys; suspected poor immune system
– At 12 months, not sitting & not responding to her name & poor eye contact; diagnosed with hypotonia (low muscle tone); Drs. also suspected autism
– Not very exploratory prior to 14 months; was content laying in same spot for more than 30 minutes
– Began Early Intervention at 14 months: Physical Therapy 1x wk; Developmental Therapy 2x wk; Speech Therapy 1x month
– Tympanogram (hearing test) at 14 months – failed but passed other hearing tests; we have not gotten tubes & we haven’t had further hearing testing
– EEG at 14 months – suboptimal results because Leandra wouldn’t lay still but there has been no signs of seizures
– MRI at 15 months – everything normal
– Began sitting up at 15 months
– Began crawling at 16 months & standing 2 weeks after
– EKG & Echocardigram at 18 months – everything normal
– Diagnosed with 3p-syndrome (primary) & autism (secondary) at 18 months (does not seem to act like what you would expect an autistic child to act. The diagnosis is more based on the poor eye contact & delayed verbal skills.)
– Began swallowing puffs, cheerios & cookies at 19 months
– She stopped drinking from the bottle at about 19 months for no apparent reason. We transitioned to a straw.
– Began walking at 22 months

Leandra at 2.5yrs (10/15/2012)

– She has an across the board delay of 6 – 9 months – better at some things than others.
– She is still on the small side. 5% for height & weight but she’s getting stronger & she’s getting smarter by the day.
– Her chewing skills need work – she still eats mostly baby food & small cookies, pieces of bread. She seems to keep food in the middle of her mouth.
– She mouths everything except new foods – everything!
– No speech aside from a lot of babbling & some imitation of sounds – appears related to tongue not moving from side to side
– Leandra appears to understand everything we say (both in English & Spanish) & she is attempting communication through signing “give me”, “more” & “all done” and taking us to where she wants to go & now by pointing at pictures
– Leandra’s fascination with light has lessened. We try to keep the lights off as much as possible during the day so that we can keep her attention on other activities.
– She turns when she hears her name or voices; eye contact is incredibly better
– She loves to play & explore. She “gets” jokes that we play on her. She does ok in social settings as long as it’s not too loud.
– New skills are learned on her terms (quite stubborn – lol)
– Overall health is excellent. Leandra is not on any medication.

Continuing with Early Intervention (10/15/2012)

Physical Therapy 1x wk (working on jumping, coordination)
Speech Therapy 1x week (working on sounds & communications through pictures & signs
Occupational Therapy 1x week (working on puzzles, stacking, putting items into holes)
Developmental Therapy 2x wk (working on socializing, following directions, communicating through pictures & signs)

Started public school self-contained Pre-K with max of 12 children & 3 to 1 aid ratio (04/16/2013)

Physical Therapy 2x wk (2 sessions of 30 mins, one on one) (working on jumping, coordination)
Speech Therapy 2x week (2 sessions of 30 mins, one on one) (working on sounds & communications through pictures & signs)
Occupational Therapy 2x week (2 sessions of 30 mins, one on one) (working on puzzles, stacking, putting items into holes, oral motor issues)

Leandra at almost 4yrs (03/14/2014)

She has a speech delay of 12-24 months – very few words & signs but her comprehension is very good
She is still on the small side. 5% for height & weight but continues to get stronger & she’s getting smarter by the day.
Her chewing skills still need work – she still eats mostly baby food & small cookies, pieces of bread. She seems to keep food in the middle of her mouth. She now eats pudding!
She doesn’t mouth non-foods as much as she used to.
Minimal speech but she does follow the rhythm of a song with her ‘la,la,la’ and she continues to attempt to make sounds that she hears. Still has togue thrust issue.

-Now distinctly calls ‘mama!’ when she needs something, can’t say ‘papa’ but she uses a deeper voice with the word ‘mama’ when she needs ‘papa’; also calls maternal grandparents ‘nana’

– Her awareness has grown significantly. She is very aware of what is going on around her.

– Let’s us brush her teeth with a regular toothbrush & a little bit of toothpaste.
– Leandra appears to understand everything we say (both in English & Spanish) & she is attempting communication through signing “give me”, “more” & “all done” and taking us to where she wants to go & now by pointing at pictures
– Leandra’s fascination with light continues. We try to keep the lights off as much as possible during the day so that we can keep her attention on other activities.
– She engages us when she wants to play or needs something.
– She loves to play & explore. She “gets” jokes that we play on her. She has gotten much better in social settings but loudness is still a factor although it has gotten better.
– New skills are learned on her terms (still quite stubborn – lol). She can bring an empty spoon to her mouth to mimic self-feeding. She can also take her coat off & attempts to put clothes on!
– Overall health is excellent. She has gotten less colds & congestion this year as compared to last. Leandra is not on any medication.

Continuing with public school self-contained Pre-K but now with one-on-one aid (03/14/2014)
Physical Therapy 2x wk (2 sessions of 30 mins, one on one) (working on jumping, coordination)
Speech Therapy 3x week (3 sessions of 30 mins, one on one) (working on sounds & communications through pictures & signs)
Occupational Therapy 2x week (2 sessions of 30 mins, one on one) (working on puzzles, stacking, putting items into holes, oral motor issues)

Our daughter is a fun-loving girl. She loves to play contact games especially rough-housing with Daddy.

Last update to page was done in 2014.