Once upon an August night….. we were blessed with a very special little girl!
Our story starts on a Wednesday evening at 9:01pm on August 9, 2006…….the night Emily was born & one of the happiest days of our lives! Our little bundle of joy weighed in at 6lbs. 6oz. & was 19 inches long. She was so tiny!
After a few hours at home, & introducing her to our pup Lulu Belle, her pediatrician Dr. James Chao wanted her back at the hospital (Kennedy Hospital in Turnersville, NJ) because of a high billirubin count (also known as jaundice). Emily had to be put under the blue lights (which I called the tanning booth) for 2 days that never seemed to end. She had hip displacia (a clicky dislocatable hip) and she wore the Pavlik harness for about 2 weeks until we (orthopedic Dr. & us) made an executive decision to take her out of it because we didnt know if it was doing any good. Emily would only drink 1/2 oz of formula at each feeding, her left ear was all crinkled up, both ears low set, her tongue protruded…..and a few other things just didn’t add up, so the Drs. recommended that we have her tested for Turner Syndrome. After the emotional trip to a genetic specialist at Cooper Hospital in Camden, NJ. and a negative test result, we just went on…… taking care of our newborn little girl, but always knew “Something just wasn’t right, but wasn’t sure what.”
Emily was diagnosed with a 3 mm hole in her heart (ASD ) and it finally closed when she was about 9 months old. Emily also has low muscle tone (Hypotonia). Her teeth came in very slowly (1st tooth at 10 mo.) & when her two top front teeth came in, they came in with one soft spot on each tooth. Eventually the soft part starts to break away….. so when Emily was 16 months old, we took her to the pediatric dentist and they bonded the teeth. They did a beautiful job.
She has delayed development, and our County’s Early Intervention team worked with Emily twice a week. {OT & PT} Thanks to her PT Donna & the Bilateral AFO’s from Orthologix…..Emily took her first steps on her 2nd birthday.
Emily had her first seizure in December 2007 (age 16 months), and it was truly the worst thing we have ever experienced in our entire life. We felt like we were watching our baby girl die right in front of us. Two months later, in February 2008 (age 18 months), Emily had a Grand Mal seizure in the middle of the night, (thank goodness I heard her gasping). Four more Grand Mal seizures followed within the next 24 hours - all triggered by fever. After a couple trips to the ER at Kennedy and being sent home from Kennedy & CHOP, she was eventually hospitalized at The Children’s Hospital of Philadelphia (CHOP) and the testing began. (Cat Scan, EEG, blood tests & eventually an MRI)
Weeks later the phone rang…….with a call from Emily’s neurologist, Dr. Jennifer McGuire, came a diagnosis of Chromosome 17q21.31 Microdeletion Syndrome.
Finally an answer …but not with much information to follow. We don’t know what to expect, because of this syndrome being rare & with so few cases documented. That is the reason we have created this website….. in the hopes of connecting with other parents who are experiencing the same thing as us & to create awareness.
* Emily currently takes Lamictal to help prevent seizures & has been seizure free since February 2008. With the exception of absence seizures that seem to make their appearance regardless of medication.
SO WHATS NEXT FOR POOH?
In March 2008 {Emily age 19 months} we contact Early Intervention services in Gloucester County. The Early Intervention team found Emily eligible for services due to global delays (cognitive 7-8 months; communication receptive 3-4 months and expressive 5-6 months; social-emotional 4-7 months, gross motor 10 months, fine motor 13 months, self-help adaptive 10 months). Areas in need of remediation include development of independent working, expanding play repetorie, development of gestural and verbal communication, expansion of food choices, following simple directions, and reciprical play/interaction. Services included developmental invervention for one hour per week and physical therapy one hour per week.
At the Early Intervention Annual review in January of 2009, it was reported that Emily had made great strides in gross motor skills, she was following some commands and was making consistent sounds to some pictures. Self-help skills (eating and dressing) and communication continued to be areas of concern. Developmental Intervention services were increased to two times per week for one hour each and the focus was feeding, play, communication and age appropriate developmental skills.
At the transition meeting in March 2009, Emily’s skills reported to be at the following levels: cognitive 17-22 months; communication 12-14 months with scatter to 18 months; social emotional 18-24 months, gross motor 16-18 months, fine motor 18-20 months, self-help adaptive 12 months. Due to continued delays a Child Study Team referral was made.
