Day by Day

Some days, I have to remind myself... "Today is a new day!"

My name is Ashley and I am the mother of two. I have an amazing 3 year old named Ella and a fabulous 8 month old named Briar. Briar also has 1P36 Deletion Syndrome.

I'll start from the beginning... I had a wonderful pregnancy with Briar, although she was often breech presentation, because of this, we had multiple ultrasounds and everything was fine. At 37 weeks, we went in for a version, in one of her breech stages and were amazed to watch her turn in front of our eyes!! We were truly surprised because Ella weighed in at 8 lbs 4 oz and Briar was already estimated at 7 lbs. We waited 41 long weeks and still no VBAC, no Briar. We had a scheduled c-section on January 23, 2009. At 1:02 pm, Briar Powers entered to world weighing 6 lbs 14 oz, she was 20 1/2 inches, she screamed like bloody murder and then became very quiet. I was told she required some oxygen and was taken to the Special Care Nursery where we would spend the next few weeks, asking many questions, but getting few answers. The nurse also told me that the doctor had to use the forceps, apparently, Briar attempted to turn around and go back in LOL

One day, while on a forced break from the hospital, Dr. M called me at home. I thought, "This can't be good." That is when she told me they had found 5 holes in Briar's heart. We had also been told she had a cyst on her brain.

Briar was transferred to the Children's Hospital of Eastern Ontario (CHEO). Before her second month birthday, she had a Nissan Fundoplication. Before her fourth month birthday, she had a PDA ligation. Watching my child go through surgery before two months old, was the hardest thing I had ever done. She was poked and prodded everyday with blood work, ultrasounds and x-rays. The day after her surgery, she started having seizures. I'm sure this sounds very familiar.

Dr. Judith Allenson (the geneticist at CHEO) recognized Briar's heart conditions, facial features and reflux as a sign for 1P36, although she had never had a patient with this type of deletion. The first genetic testing, showed no abnormalities. We were discharged and life went on.

At 5 months old, we received a letter from Dr. Allenson, stating "We have found a tiny missing piece in Briar's genetic code," but that we needed to make an appointment to talk about the diagnosis. I should mention that as a mother, I had already researched lots of genetic disorders and using the words from the letter, I found 1P36 on wikipedia. I saw a picture of the sweetest little girl, and immediately recognized the same lips, eyes, eyebrows and nose. I have since read everything I can get my hands on. I have met with physiotherapists, occupational therapists, genetic counselors (my husband and I are being tested next week) and many other specialists. But most of all, I have met the most special girl in the world, Briar! I hope this blog allows you to experience everything our family does on this amazing journey... here we go!