JS Survey

Tell us about your Jacobsen Syndrome Child
Send us the survey to erinkewer@verizon.net

How old is your Jacobsen Syndrome Child now?
When was he/she diagnosed with Jacobsen Syndrome?
What are some of the medical problems your child has?
Any surgeries done?
What are some learning disabilities your child has?
What were some of the complications at birth?
How early was your child born? weight?
Length of stay in hospital?

Here are just a few surveys from our friends around the world.

• How old is your Jacobsen Syndrome Child now? 9.5 years old
• When was he/she diagnosed with Jacobsens Syndrome? 5 months old
• What are some of the medical problems your child has? Chronic Lung Disease, Broncheactisis, milk protein allergy, gluten intolerance, slow to no growth now, cortical visual impairment
• Any surgeries done? tracheal esophageal fistula repair, pyloric stenosis surgery, fundoplication and g-tube, ear tubes, bowel malrotation, empyema (decortication of right lung),What are some learning disabilities your child has? speech delay,  cognitive delay, visual impairment, fine motor delay, add
• What were some of the complications at birth? TEF (tracheal esophageal fistula), 2 vessel umbilical cord (instead of 3), growth restricted, lack of amniotic fluid, low platelets, low iron, lungs underdeveloped
• How old is your Jacobsen Syndrome Child now? 3 years old

• When was he/she diagnosed with Jacobsen Syndrome? 1 months years old
• What other deletions or duplications does your child have? Just 11q deletion
• What are some of the medical problems your child has? Delayed growth. No heart problems.
• Any surgeries done? pyloric stenosis surgery
• What are some learning disabilities your child has? speech delay (speech therapies 2 x/week)
• What were some of the complications at birth? prematurity, breathing problems, low platelets, feeding problems.
• How early was your child born? weight? she was 11 days early. 2,3 KG
• Length of stay in hospital? 6 weeks
• How old is your Jacobsen Syndrome Child now? 12 months

• When was he/she diagnosed with Jacobsens Syndrome? When he was 2 months old
• What are some of the medical problems your child has? Trombocyttopeni that causes bleeding in he’s brain. This bleeding damaged Leons seight and he is nearly blind.
• Any surgeries done? No
• What are some learning disabilities your child has? We don’t know yet
• What were some of the complications at birth? He didn’t get enough nutrition, so he was taken by surgery in pregnancy week 30.
• How early was your child born? weight? He was born 10 weeks to early and he was only 840 kilogram and 33 cm
• Length of stay in hospital? We stayed in the hospital for 4 months
• How old is your Jacobsen Syndrome Child now? 11 yrs.

• When was he/she diagnosed with Jacobsen Syndrome? She was diagnosed within 2 weeks of being born while in the NICU at the University of Kentucky
• What are some of the medical problems your child has? thrombocytopenia, a slight heart murmur, constipation which she takes a daily medication for
• Any surgeries done? She has had 2 strabismus eye surgeries to help correct her wandering eye. She was put to sleep in the OR a month ago to have her 10 remaining baby teeth pulled out. They were not falling out like they should, and her permanent teeth were under there ready to come up.
• What are some learning disabilities your child has? She has OT, PT, and speech therapy at school. She uses sign language. She is very vocal, mocks almost everything she hears. She is not potty trained and still wears a diaper. She didn’t walk until she was about 5 years old, but now gets around wherever she wants to go.
• What were some of the complications at birth? she had small bruising spots all over her from the thrombocytopenia, and jaundice when she was born.
• How early was your child born? weight? She was a few days late, had to have a C-section. She was so small that she kept turning around and was breech. She was 6 lb. 1 oz.
• Length of stay in hospital? She was in the NICU for about 2 weeks after she was born.
• How old is your Jacobsen Syndrome Child now? Leah is 19 years old.

• Does your child have any other deletions or duplications? No
• When was he/she diagnosed with Jacobsen Syndrome? Aged 2 1/2
• What are some of the medical problems your child has? Bilateral ptosis, campodactyly of middle fingers, overlapping toes, large great toes, thrombocytopenia, skeletal dysplasia, chronic ear infections, enlarged spleen, misshapen ear canals, moderate hearing loss
• Any surgeries done? ptosis correction, t-tube insertion x 3
• What are some learning disabilities your child has? severe learning difficulties, can’t read or write, poor comprehension, poor attention span, attends a college for special needs adults.
• What were some of the complications at birth? Premature, and fever after day 2 resulting in blood work that identified the low platelets. But otherwise normal birth.
• How early was your child born? weight? 6 weeks. 4′lb 8oz.
• Length of stay in hospital? 5 weeks. Has had periodic stays in hospital for tubes, pneumonia, dental work, etc.
• <Any Behavioral Problems? Mouthing of objects (books, toys, clothing), some tantrums when we try to correct this behavior.
• What is your child’s personality like? Leah is a happy child who loves school, babies, animals, sport and her friends and family. Very loving and cuddly. Loves a good trampoline.
• How old is your Jacobsen Syndrome Child now? James, 10 yrs

• When were they diagnosed with Jacobsen Syndrome? 5 days
• What are some of the medical problems your child has? Thrombocytopenia, VSD, ASD, Anemia, Cranial Facial Stenosis, Lazy eye, Anal Stenosis, Pyloric Stenosis, Chronic constipation, pylorotomy cranial facial reconstruction strabsimus surgery to correct lazy eye and an anal plasty to create an anus 4 total
• Any surgeries done? G-Button placed, Fundoplycation, Shunt
• What are some learning disabilities your child has? Non verbal, MR, OCD, ADD
• What were some of the complications at birth? Low paletes, ASD, VSD, interuterene growth retardation
• How early was your child born? weight? 1 week late/ 4 lbs 15oz
• Length of stay in hospital? 10 days
• How old is your Jacobsen Syndrome Child now? Almost 4

• When was he/she diagnosed with Jacobsen Syndrome? 1 week old
• What are some of the medical problems your child has? Born with clubbed feet (now fine care of casting & braces), born with 2 heart murmurs (only one remains), ptosis on one eye, slight hearing loss of low tone in one ear, short stature, undescended testicle, slight bend in both pinkie fingers, tops of ears folded in slightly
• Any surgeries done? Tenotomy (cutting of tendons in ankles to help with clubbed feet), 2 surgeries for ear tubes, surgery to bring down one testicle.  Upcoming surgeries include fixing the tops of the ears (just in case he needs glasses one day) & eyelid lift for the ptosis on one eye.
• What are some learning disabilities your child has? Some cognitive delays & speech delays.  He is at the correct developmental level in some areas while in others he is anywhere from a few months to a year delayed
• What were some of the complications at birth? Born early, cord wrapped around neck (in & out of distress), small placenta, failure to thrive
• How early was your child born? weight? Born @ 36 weeks, 5 lbs, 2 oz
• Length of stay in hospital? 1 month
• How old is your Jacobsen Syndrome Child now? 6 1/2 years old

• When was he/she diagnosed with Jacobsen Syndrome? 2 1/2 years old
• What are some of the medical problems your child has?club foot, weak lungs, faliure to thrive, prolapsed valve & enlarged heart, hirshprungs syndrome
• Any surgeries done? hirshsprungs pull through, penial concealment, heel cord lengthening
• What are some learning disabilities your child has?speech, cognitive
• What were some of the complications at birth? scheduled C-Section
• How early was your child born? weight? full term, 6 lbs. 6 1/2 ounces
• Length of stay in hospital? 3 months
• How old is your Jacobsen Syndrome Child now? 9.5 years old

• When was he/she diagnosed with Jacobsen Syndrome? 5 months old
• What are some of the medical problems your child has? Chronic Lung Disease, Broncheactisis, milk protein allergy, gluten intolerance, slow to no growth now, cortical visual impairment
• Any surgeries done? tracheal esophageal fistula repair, pyloric stenosis surgery, fundoplication and g-tube, ear tubes, bowel malrotation, empyema (decortication of right lung)
• What are some learning disabilities your child has? speech delay,  cognitive delay, visual impairment, fine motor delay, add
• What were some of the complications at birth? TEF (tracheal esophageal fistula), 2 vessel umbilical cord (instead of 3), growth restricted, lack of amniotic fluid, low platelets, low iron, lungs underdeveloped
• How early was your child born? weight? She was born at 32 weeks and 3 days.  She was 3 pounds, 1 oz or 1380 grams
• Length of stay in hospital? 8 weeks at birth, multiple times since then