San Antonio, Texas (TX) - Full Trisomy 13

Kristi & John are available for immediate support
210-467-9591  kristipoulin@yahoo.com

Sofia Poulin was born 1/23/04 with trisomy 13, non-mosaic, nondisjunction of chromosome 13.

Update January 1, 2008

Dear Friends,

I can’t believe more than a year has nearly gone by since our last update. A lot has happened this year that has kept us busy. Sofia is now a proud big sister. God has blessed us with a healthy boy, Daniel Edward born Sept 6, 2007.

Medically, Sofia has been in very good health. She recently had a tongue tie surgery (frenulectomy). This may or may not help her speak or swallow her food but we feel if there is a chance to help her improve then let’s see. Over the summer she went through a big growth spurt, in Aug she had about two seizures a week, but her anti-seizure drug Keppra seems to have them in control. The seizures usually happen at night when she is sleeping.

Physically, Sofia is doing very well. She loves her physical therapy. She’s been sitting up on her own for a year now, and even progressing to a kneeling position. She loves spending time in her stander, and is starting to take steps in her gait trainer. She definitely has the will to walk. So if there is a will there is a way. As of Sept we started an outside physical therapy program that includes swim therapy. Sofia still wears glasses, but tends to take them off and chew on them. A headband helps keep them on.

Sofia continues to go to school to a half-day special needs Pre-K programs at our local public school. We are lucky she receives one on one attention in a small class size. As always, she enjoys her music, in particular “If you are happy and you know it”, and she loves knocking down block building someone builds for her. She still loves her musical books and she loves to hear the alphabet and numbers sung to her. “Mr. Brown can Moo, can you?” is her all time favorite, thank you Dr. Suess.

Happy New Year to all!
Kristi, John, Johnny and Sofia

Update Dec 2006

Dear Friends,

We are enjoying the warm weather down in San Antonio, TX. It’s a big change from the Northeast, especially this time of year. Sofia is doing really well. We finally received some nice equipment, The Magician stander and Rifton walker. She is enjoying and bouncing a little in the stander, however taking her time in the walker. I’m sure with more practice she will get the hang of it. The big news is that on her 3rd birthday (Jan 23, 2007) Sofia will start a half-day pre-school program. We hope the other children will motivate her, although she is highly stimulated by her soon to be 5-year-old brother Johnny. Her seizures seem to be more manageable since she’s been the drug Keppra, but are still occurring 1-2 times per week.

Sofia is still her cheerful self, when she fusses then we know something bothers her. She still has the same old belly laugh when she watches her favorite show Go Diego Go or listens to music. Her favorite song is “When your Happy and You Know It”. We hope God continues to bless us with another healthy year.

Kristi, John, Johnny and Sofia

- - -

Update: May 23, 2006
Sofia progress is amazing.  Her therapists agree that she seems to understand more than we think she does.  If she is working with a particular toy, she obviously can anticipate what comes next.  The difficult part is Sofia telling her body how to move.  We’re looking forward to getting her a stander and eventually a walker; she loves to stand when we hold her.
  
In early June we are moving down to San Antonio, TX.   We’d like to extend our heartfelt thanks and appreciation to Sofia’s doctors and therapists in Maryland.  We are grateful to have found believers in Sofia and that they took time to listen to us and her.  Through their diagnosis and treatments they realized she isn’t a “textbook” case of Trisomy 13.   (Maybe one day the Medical community will add a little more to the definition on Trisomy 13 and its survivors, in the meantime thank goodness for websites like this one!)

Update: December 2005

Hello Friends,

Sofia is doing well since her Nissen and G-tube insertion this past Oct. We are grateful that she’s able to eat solids by mouth- she really loves to eat. She is still having episodes/seizures, but not as frequent. We think she still has acid reflux (which may cause the seizures), so Prevacid once a day helps. She is very active, smiles, and laughs all the time and loves her big brother and he loves her. She is starting to sit up and likes to stand while we hold her up. Continue to keep her in your prayers. In the beginning of the year, we are having her extra toes removed so that she can have a cast for supports and start physical therapy to stand and eventually walk. Even though the extra toes are cute, her orthopedic doctor says they may hurt her if she wears any kind of support (too much pressure on her foot), so we feel its best to remove them.

Merry Christmas and Blessings in the New Year.
Kristi

Update: December 2005
My husband just got his orders.  It looks like we'll be moving to San Antonio, Texas (instead of Washington) this year.  Anyone from that part of the states?
  
Here are some pictures of Sofia and her brother enjoying the outdoors.

Kristi and John Poulin
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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
Gaithersburg, MD
 

New Sibling, Daniel is now 6 months old
and "normal - typical".

Christmas 2006 Sofia's first visit to Santa.
 She enjoyed pulling his beard.
  



Sofia enjoying the beach at the Gulf of Mexico

at 15 mo old.

15 months

15 months in her Bumbo Seat -
great for strengthening her trunk

Sofia age 1 with her brother Johnny.