ANNIE: My daughter Quinn is 2 years old, and she was diagnosed with SMA Type 2.
ANNIE: The first signs that I noticed that something was wrong was probably around 7-8 months old.
ANNIE: I would put her in crawling position and she would just cry, and she wouldn’t go anywhere, and it was really hard for her to hold herself in that position on all fours with her head up.
JOE: We started to notice that her eating was becoming more laborious. It was harder for her to swallow. We had also noticed that she was having more difficulty sleeping.
ANNIE: When Quinn was 9 months old, we took her to the pediatrician, and we expressed some concern about her not bearing weight on her legs. And I held her up and showed him how she would not stand on her legs and how they would just buckle.
ANNIE: Our pediatrician submitted the paperwork to our insurance and requested that Quinn have this genetic test done. And then 2 weeks later we received the results that confirmed that she had SMA Type 2.
JOE: So I have friends from high school that have had kids with SMA and, as a result, I already had a familiarity with the disease.
ANNIE: Joe and I both knew time was of the essence and she needed to get treated immediately.
ANNIE: Once Quinn was diagnosed, her pediatrician referred us to the neuromuscular specialist.
JOE: When we went in to meet with our neuromuscular specialist, she did discuss with me the treatment options.
ANNIE: She was clear that ZOLGENSMA was the treatment that she wanted to treat Quinn with. The reason being, it would stop the progression of Quinn’s SMA and that it was a one-time infusion, as opposed to getting treatments every few months.
ANNIE: We saw videos of children who had been treated with ZOLGENSMA and were very encouraged by what we saw.
ANNIE: I also spoke with parents whose children had been treated with ZOLGENSMA and felt very confident through speaking with them and their experience.
JOE: We chose ZOLGENSMA because it addresses the genetic root cause of SMA to allow her to produce SMN protein with a one-time treatment.
ANNIE: Before Quinn was treated with ZOLGENSMA, she had to receive blood tests to establish baseline levels and an antibody blood test to make sure she qualified.
ANNIE: Once the insurance approved the treatment, I broke down in tears. I was so grateful. I will never forget that day. It was the best day of my life.
JOE: Quinn was treated with ZOLGENSMA in November of 2019 when she was 15 months old.
ANNIE: After Quinn received ZOLGENSMA, she would receive blood work every week and then eventually every 2 weeks. And in addition to the blood work that she was receiving, she took an oral steroid to manage her liver enzymes. And after about 4 months, her neuromuscular doctor weaned her off the steroid.
ANNIE: My expectations for ZOLGENSMA were that Quinn would quit declining. Although she may not be walking yet, she is standing with her leg braces, and she is sitting up for long periods of time and she’s able to walk her arms out to her tummy and walk herself back.
JOE: Every time she does something new or has a new skill that she develops, she gets so excited about it. I mean the first time that she stood on her own, she was just so proud of herself.
JOE: The thing about ZOLGENSMA, it has taken my fear and it’s replaced it with hope. I’m not afraid any more of what her life will be like. I’m full of hope for her.
ANNIE: It’s been an incredible journey to watch her every day to see her progress and then look at it over the long run to see where she’s come from the time of treatment until now.
JOE: As a dad, I have this vision in my mind of walking my daughter down the aisle on her wedding day. And I truly believe that will happen. And I believe it will happen because of ZOLGENSMA.
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