“Every time her favorite song ‘Babyland’ comes on, she just beams
with joy and laughter.”
SophiaPoulin – Click this link to see her movie
Sophia Poulin, Trisomy 13, San Antonio, TX. Sofia was born 1/23/04 with mosaic trisomy 13.
Update – 12/31/2013:
Sofia will be 10 Jan 23. Her doctors have been collecting data about her seizure disorder and genetic analysis to write up in medical journals. Her geneticist wanted us to verify that she is indeed full trisomy 13 as diagnosed at birth. He said she just “looks too good.” Sure enough we had the blood test and it indicated she is 55% mosaic. We probably will do a cheek swab to confirm, since the blood test looks at only 20 cells. So, what does this now mean? Way back 8 yrs ago we asked her current geneticist at the time could she be mosaic? His response was, if she was it really wouldn’t change how we would treat her. So will just go with that and change nothing. However, for those of you that may have looked at their child and compared with our Sofia, it may change your opinion. If your child is also doing as well as Sofia, and is presumably full trisomy 13 diagnosis, you may want to get your child retested.
Update – October 2013:
Sofia, age 9 with Full T13, has healed nicely after 4 fractures this year. 2 hip fractures, a femur buckle and upper arm. She does have severe osteoporosis. We suspect she fractured them in the middle of a severe seizure, She is currently undergoing bone therapy infusions with bisphosphonate 4 times a year and we seem to have her seizures under control. Her school has purchased a Bantum stander. http://www.easystand.com/
product/products-2/bantam/. She can go from a standing desk to sitting desk in 30 sec. Thank you Northside school district here in SanAntonio, TX. She is definitely progressing and thriving more than ever.
Sofia is 9 years old and continues to amaze us everyday. She has a sweet, cheerful and loving disposition. She is nonverbal but, if something is bothering her, she certainly lets us know it with a whine or yell. Some of her favorite things are listening to children’s music like Laurie Berkner and watching Dora, Barney, YoGabbaGabba and Jack’s Big Music show. Physically she can crawl (since age 6), pull herself up to a standing position, and with assistance walk about 100 feet with a gait trainer. Getting her to walk independently is going to be a challenge because she needs more trunk strength. She does have osteoporosis and because of this has suffered a hip fracture last year, and 2 femur fractures in 2008 and 2009. Sofia has epilepsy that it is under control with anti-seizure meds but has an occasional breakthrough seizure. She takes all of her fluids by G-tube (that was placed in her at 18 mo old after one too many apnea episodes) and eats pureed foods by mouth 3 times a day. She loves to eat and try different foods. We are also fortunate that Sofia was give a tandem special needs bike through Michael Hennessey and his Ironman for Kids foundation. With this bike we are able to enjoy some beautiful days with the wind just blowing in her hair. May God continue to bless us with our angel on earth.
Softly Spoken, Kristi and John Poulin
Below is a summary of my pregnancy, Sofia’s birth and first year:
My pregnancy: At the 22-week ultrasound, my OB said our baby had small head measurements and low amniotic fluid. He also had difficulty taking heart measurements. I vaguely recall him saying she had an extra toe. After the discouraging ultrasound, I was advised to be on total bed rest, drink copious amounts of water and have a follow-up ultrasound the following month. Remaining optimistic, we assumed our doctor was erring on the side of caution by advising me to bed rest. The following ultrasound was still unsettling, and I was advised to see a prenatal specialist and a pediatric cardiologist. The pre-natal specialist followed the baby’s growth every month. Measurements were continually on the small side, but proportioned and the amniotic fluid was always on the low side (around 9 or 10 where 10-18 is the normal range). The echocardiogram revealed a four chambered heart that was centered (dextrorotation) instead of a heart that is normally pointed toward the left. A narrow measurement of the aortic arch was indicative of a possible coarctation and possible bicuspid aortic valve. Based on the small body and abnormal heart measurements the pediatric cardiologist said there was a possibility she could have Turner’s syndrome. Genetic tests would have confirmed this if we had opted to have an amniocentesis. Reasons we didn’t get the amnio were first, I felt the test was too invasive, and there may have been a risk of miscarriage, especially since my amniotic fluid level was low. Second, we always felt whatever the amnio results were, terminating the pregnancy would be out of the question for us. (In addition, in the state of Maryland a second trimester abortion is also illegal). In retrospect, I’m glad I never had the amnio because if we found out she was T-13 early it would have been very upsetting and I would not have wanted such negative stress added to my pregnancy. So for the rest of the pregnancy I was on complete bed rest drinking 4 liters of water a day and having routine monthly ultrasounds to monitor growth and fluid level.
Sofia’s Birth: My labor was pretty easy as far labor goes and Sofia was born 6 hours later. I had a doctor who practiced midwifery techniques that I believed relieved a lot of the strain of pushing from the baby and from me. Due to her abnormal prenatal ultrasounds we had a pediatric cardiologist on call to examine her. Once she was delivered, the doctors took her and examined her right away. Some of her characteristics included a herniated belly button, extra digits on both feet and hands (polydactyly), sloped head, and a small incomplete growth of her scalp (aplasia cutis congenta)… however, there was no cleft lip or palate, so she was able to feed and learn to nurse. (I am still nursing after 16 months!) The extra fingers on both of her hands were tiny flaps of skin with no bone, so the doctor was able to tie them off in the NICU. Her extra toes have bone and we haven’t yet opted for surgery to removes them. If she shows signs of walking in the future and requires shoes for weight bearing we will reconsider. At this point her pediatrician doesn’t want to put her through any unnecessary pain. Her follow up echocardiogram had no evidence of a coarctation, however the heart was centered and she a small ASD that should close on its own. Her other internal organs seem normal. She stayed in the NICU for 6 days and during the time she was monitored very closely with no immediate medical attention necessary.
The First Year: After they sent us home the hospital arranged for a children’s hospice program to perform daily visits. Daily visits turned to weekly visits with Sofia graduating from program two months later. We have been in the Montgomery County Infant Toddlers program ever since. She sees her physical therapist once a week, an occupational therapist every other week and a learning teacher once a month. They are all just marvelous with her and Sofia shows progress. She can almost sit up and does so with the help of her BUMBO seat (if you never heard of it we suggest you check it out on-line) and only now as of 16 months has started to bear weight on her elbows and knees and scoot backwards. Her genetics doctor, Dr. Kenneth Rosenbaum at Children’s Hospital in D. C., says developmentally she is compared to a 6 month old, while socially and cognitively a 9 or 10 month old. She wears glasses for severe myopia. Sofia has a 3 year-old brother who has fun showing her how to play with her toys. She is a sweet and happy baby, always smiling. She loves music including just about anything with a saxophone. Every time her favorite song ‘Babyland’ comes on, she just beams with joy and laughter. Not until the last 6 weeks have we faced any major medical complications. After 5 episodes of what we thought may have been seizures, she was diagnosed with severe gastroesophageal reflux with choking and loss of consciousness. Her EEG and brain MRI were normal. A barium swallow study confirmed the diagnosis. Her current medications are Reglan and Zantac. Surgery of her lower esophagus may be in her future.
We hope for the best in Sofia, realizing any day our luck can change. We are grateful for God’s precious gift of this child and realize the time we have with her to love and nurture her is a blessing. May He give us and all parents that have these special needs children the strength to accept their health.
Kristi and John Poulin