Time Is Motor Neurons A father’s perspective: Our journey to finding a treatment Sponsored Post

<h1 class="entry-title">Time Is Motor Neurons  	<span class="sub-heading">A father’s perspective: Our journey to finding a treatment</span> 	<span class="post-status">Sponsored Post</span> </h1>

When Quinn, our soon-to-be-born daughter, didn’t make as much movement in the womb as our other 3 children, my wife, Annie, and I thought we had the “chillest” baby in the world. We joked that she was saving up all her energy for when she entered this world kicking and screaming. Quinn was born in August 2018, and she was the most beautiful little girl. Over the first few months, nothing seemed out of the ordinary. In fact, she appeared healthy and had strong upper body strength. But by the time Quinn’s 9-month check-up came around in June, her physical condition started to change.

Our pediatrician noted that Quinn wasn’t bearing weight on her legs, and we shared that she had only just started rolling over. The pediatrician said that Quinn was behind in growth development, but everything seemed fine overall. We weren’t feeling 100% confident that everything was okay, but we decided to take the wait-and-watch approach because we weren’t overly concerned at that point. About a month later, in July, my mother’s neighbor, who is a doctor and close friend, commented that Quinn didn’t seem to have any leg muscles—warning bells started to go off for us. We heard about a local early intervention agency that conducts home visits to evaluate delayed growth in children and works with a variety of different therapists, including physical therapists. We called the agency to get an evaluation. After the physical therapist completed the evaluation, she told us that Quinn needed to see a pediatric neurologist immediately. You can imagine the shock we felt, especially since the only thing we thought Quinn might have needed was physical therapy because of the weakness in her legs.

I started frantically searching online for information. During my research, I came across hypotonia (decreased muscle tone), and that led me to spinal muscular atrophy (SMA). I had heard of SMA because a good friend I went to high school with had a child with SMA Type 1. We didn’t think Quinn could have SMA because her symptoms weren’t as severe as my friend’s child. We did not have a family history of SMA.

We went back to see Quinn’s pediatrician in September because we couldn’t get an appointment with the pediatric neurologist, and we were very concerned. We pushed for an SMA test despite the pediatrician’s misgiving. He ordered the test, and while we were waiting for the results, we finally got in to see the pediatric neurologist. Even though the pediatric neurologist acknowledged the weakness in Quinn’s legs, he doubted it was SMA because she had too much upper body strength, especially in her arms. We felt differently based on everything we read and had been experiencing with Quinn. In October 2019, our pediatrician diagnosed Quinn with SMA Type 2 at 14 months old, based on her genetic test results and symptoms.

Our pediatrician immediately got in touch with a neuromuscular specialist after the diagnosis, who in turn, called an emergency meeting with a team of specialists at the hospital to help ensure she received treatment immediately. She informed us that “time is motor neurons,” and children who have SMA become weaker over time because SMA affects motor neuron cells that control muscles. She then told us about ZOLGENSMA® (onasemnogene abeparvovec-xioi) as a treatment option. We had already learned about ZOLGENSMA in our research on SMA and had reached out to another family to learn about their experience with this treatment. We felt confident with the recommendation of our neuromuscular specialist, talking to another family, and knowing it would be a one-time treatment. We felt in our hearts that this was the best option for Quinn.

“We were all in with ZOLGENSMA because it was a one-time thing, and it was a chance to give Quinn a better future.”
- Joe, father of Quinn who has SMA Type 2

 

Indication
ZOLGENSMA® (onasemnogene abeparvovec-xioi) is a prescription gene therapy used to treat children less than 2 years old with spinal
muscular atrophy (SMA). ZOLGENSMA is given as a one-time infusion into a vein. ZOLGENSMA was not evaluated in patients with advanced SMA.Important Safety Information
ZOLGENSMA can cause acute serious liver injury. Liver enzymes could become elevated and may reflect acute serious liver injury in children who receive ZOLGENSMA. Patients will receive an oral corticosteroid before and after infusion with ZOLGENSMA and will undergo regular blood tests to monitor liver function. Contact the patient’s doctor immediately if the patient’s skin and/or whites of the eyes appear yellowish, or if the patient misses a dose of the corticosteroid or vomits it up.Please see additional Important Safety Information below and accompanying Full Prescribing Information.

Shortly after diagnosis, we started the process toward treatment with ZOLGENSMA, which began with Quinn getting an antibody test. Her antibody levels were acceptable, which meant she qualified for treatment. She had other blood tests, too, and was given an oral corticosteroid to take the day before infusion, on the day of infusion, and to continue after infusion. November 2019, 3 weeks after diagnosis, Quinn received ZOLGENSMA at 15 months old. We felt a great sense of relief that day because she finally received the treatment she desperately needed. Mainly because she had been regressing since August and could no longer roll around, and eating had become more difficult for her.

Quinn continued to receive an oral corticosteroid every day after treatment as directed by our doctor. She was also tested weekly after treatment to monitor her liver enzyme levels and other blood levels. We were excited to start seeing changes in Quinn. She started to lift her neck and hold her head up while on her hands and knees—something she could not do before. Today, at 19 months old, Quinn continues to make improvements in reaching different motor milestones. Because she still has SMA, she receives physical therapy once a week for an hour. Although Quinn can’t bear weight on her legs right now, she can move her legs, and we are working on building up those muscles. We’re optimistic she’ll walk one day.

Her eating has also greatly improved. She loves raspberries, and she puts them on her fingers and eats them one by one. We joke that she’s going to eat us out of house and home. When not enjoying her fruit, Quinn loves playing with her siblings. They put Quinn in a laundry basket and push her around the house, pretending she’s in a car race. When not being zoomed around by her siblings, Quinn spends time with our cuddly rabbits and playing games.

People ask us how we see Quinn’s future and living with SMA. We explain it very simply–life was filled with limitations before ZOLGENSMA, but now that she has been treated, we see so much potential for her.

Watch videos about other families’ experiences with ZOLGENSMA and learn how other children are doing after treatment.

Results and outcomes vary among children based on several factors, including how far their SMA symptoms progressed prior to receiving treatment.

Indication and Important Safety Information for ZOLGENSMA® (onasemnogene abeparvovec-xioi)

What is ZOLGENSMA?
ZOLGENSMA is a prescription gene therapy used to treat children less than 2 years old with spinal muscular atrophy (SMA). ZOLGENSMA is given as a one-time infusion into a vein. ZOLGENSMA was not evaluated in patients with advanced SMA.

What is the most important information I should know about ZOLGENSMA?

  • ZOLGENSMA can cause acute serious liver injury. Liver enzymes could become elevated and may reflect acute serious liver injury in children who receive ZOLGENSMA.
  • Patients will receive an oral corticosteroid before and after infusion with ZOLGENSMA and will undergo regular blood tests to monitor liver function.
  • Contact the patient’s doctor immediately if the patient’s skin and/or whites of the eyes appear yellowish, or if the patient misses a dose of the corticosteroid or vomits it up.

What should I watch for before and after infusion with ZOLGENSMA?

  • Viral respiratory infections before or after ZOLGENSMA infusion can lead to more serious complications. Contact the patient’s doctor immediately if you see signs of a possible viral respiratory infection such as coughing, wheezing, sneezing, runny nose, sore throat, or fever.
  • Decreased platelet counts could occur following infusion with ZOLGENSMA. Seek immediate medical attention if a patient experiences unexpected bleeding or bruising.

What do I need to know about vaccinations and ZOLGENSMA?

  • Talk with the patient’s doctor to decide if adjustments to the vaccination schedule are needed to accommodate treatment with a corticosteroid.
  • Protection against respiratory syncytial virus (RSV) is recommended.

Do I need to take precautions with the patient’s bodily waste?
Temporarily, small amounts of ZOLGENSMA may be found in the patient’s stool. Use good hand hygiene when coming into direct contact with bodily waste for 1 month after infusion with ZOLGENSMA. Disposable diapers should be sealed in disposable trash bags and thrown out with regular trash.

What are the possible or likely side effects of ZOLGENSMA?
The most common side effects that occurred in patients treated with ZOLGENSMA were elevated liver enzymes and vomiting.

The safety information provided here is not comprehensive. Talk to the patient’s doctor about any side effects that bother the patient or that don’t go away.

You are encouraged to report suspected side effects by contacting the FDA at 1-800-FDA-1088 or www.fda.gov/medwatch, or AveXis at 833-828-3947.

Please see the Full Prescribing Information.

©2020 AveXis, Inc. All rights reserved. US-ZOL-20-0068 04/2020

The preceding article is content provided by our sponsor, AveXis. The views and opinions expressed in the content above are not the views and opinions of SMA News Today or its parent company, BioNews Services, LLC.

SMA News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.

Indication
ZOLGENSMA® (onasemnogene abeparvovec-xioi) is a prescription gene therapy used to treat children less than 2 years old with spinal
muscular atrophy (SMA). ZOLGENSMA is given as a one-time infusion into a vein. ZOLGENSMA was not evaluated in patients with advanced SMA.

Important Safety Information
ZOLGENSMA can cause acute serious liver injury. Liver enzymes could become elevated and may reflect acute serious liver injury in children who receive ZOLGENSMA. Patients will receive an oral corticosteroid before and after infusion with ZOLGENSMA and will undergo regular blood tests to monitor liver function. Contact the patient’s doctor immediately if the patient’s skin and/or whites of the eyes appear yellowish, or if the patient misses a dose of the corticosteroid or vomits it up.

Please see additional Important Safety Information below and accompanying Full Prescribing Information.

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