Alyssa Jones

@alyssa-jones | contributor
Alyssa Jones lives in Peoria, AZ with her husband and kids, Lucas and Lucy. Lucy has spinal muscular atrophy type II.
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Alyssa Jones

Celebrating the Small Wins on My Daughter’s Journey With SMA

My 11-year-old daughter Lucy is many things: an artist, a writer, an inventor. She also happens to have spinal muscular atrophy (SMA), a genetic disorder affecting the motor neuron cells in the spinal cord, which are key for muscle development and movement. Like many people who have not been personally affected by SMA, I had no idea what this disorder was until Lucy was diagnosed at 18 months old. Since that day, my husband and I have done everything in our power to help our daughter live the most “normal” and loving life possible. Getting to where we are now has been a learning process for all of us. In the first year of Lucy’s life, my husband and I went about our days just as any new parents would – excited, exhausted and filled with joy. It wasn’t until Lucy was around 9 months old that her daycare teacher mentioned something seemed off. Lucy wasn’t crawling or trying to stand like the other infants her age. At first, we didn’t feel too worried about it; we were new parents and didn’t know what to expect in terms of baby milestones. However, we started watching her at home and noticed she wasn’t putting a lot of weight on her legs, so we took her to the pediatrician. He told us that everything was fine, but we decided to get a second opinion. That second opinion landed us in physical therapy (PT), where we were told that Lucy’s symptoms were only an issue with muscle tone. When we stopped PT after a few months, Lucy’s condition drastically declined. We knew then something was seriously wrong and brought her for tests at our local children’s hospital, where doctors finally diagnosed her with Type 2 SMA at 18 months old. SMA is a rare genetic disease that causes severe, progressive muscle weakness and affects one in every 11,000 live births. 1 The most common form of SMA is caused by inheriting a mutated survival motor neuron 1 ( SMN1) gene from each parent, of which my husband and I both happen to be carriers. Individuals with SMA do not produce enough motor neuron (SMN) protein, which is critical for the maintenance of motor neurons that support sitting, walking, and feeding. Lucy’s diagnosis was incredibly challenging for our family, and I still tear up thinking about that time. But as parents, we had to power through and provide Lucy with what she needed to live her fullest life. At the time, there was no treatment for SMA, so this meant years of working with the specialists that we were seeing regularly to find a viable option to help preserve her motor function for as long as possible. After Lucy’s diagnosis, I joined several SMA groups and heard about SPINRAZA ® (nusinersen) , the first prescription medication approved to treat children and adults with SMA. Please see full Prescribing Information and Important Safety Information for more information about SPINRAZA. Although it was still in clinical trial phase at the time, I was excited about the future prospect of a treatment for Lucy. So, I reached out to her neurologist expressing our interest in SPINRAZA. When it was approved by the Food and Drug Administration (FDA) in 2016, I was ecstatic. From that point on, I made daily calls to everyone on Lucy’s care team, from her doctors to the insurance carrier. Sometimes, it can be difficult to get a treatment approved by insurance companies, which can require additional testing or documentation. Luckily for me, as a medical billing specialist, I understand the ins and outs of insurance as a part of my job and knew what the process would entail. We knew there were some risks in pursuing SPINRAZA as a treatment option for SMA; Lucy could experience side effects from the medication and from the procedure to receive it, along with increased risk for bleeding and kidney damage. The most common side effects of SPINRAZA include lower respiratory infection, fever, constipation, headache, vomiting, back pain, and post-lumbar puncture syndrome. However, even with these risks, the alternative was much worse for our family – if Lucy’s SMA was untreated, she would continue to lose motor function. So, we persisted. I needed to get this treatment for my daughter, and eventually, I succeeded. The three years since Lucy started on SPINRAZA have been a journey marked by small wins. Lucy opened a door for the first time. She has been able to push through her legs and lift herself off her seat. By October 2020, Lucy had gone one full year without hospitalization for the first time – a huge milestone for us. Of course, this is just our experience – others may vary. As Lucy has gotten older and curious about her SMA, we have started talking more openly with her about the side effects surrounding her disease. To accommodate her around the house, we recently installed a smart speaker system and were surprised to hear her asking increasingly tough questions to research SMA. She’s a very intelligent girl who understands the breadth of her disease, even if she keeps her emotions close to the chest sometimes. My husband and I did not get tested before having Lucy, however, once we got pregnant with my son Lucas, we tested in utero. We confirmed that Lucas is a carrier but does not have SMA. Growing up, Lucas has always helped care for Lucy and comes up with ways to include her in his playtime without being told. As parents, we know he will have different milestones than Lucy – like tying his shoes or showering on his own – but it feels like Lucas raised himself to be a brother to someone living with SMA. Lucas and Lucy even have a special phrase they created to help in conversations with their friends and kids their age. They just say that Lucy’s muscles don’t work the same as other kids’ muscles; that’s why she needs a wheelchair. My advice to parents who may find themselves suddenly confronting their child’s SMA diagnosis is to consider all options. As hard as it is to accept, don’t fight recommendations for intervention. It can be hard to say that your child needs help. We fought against it at first, and I only wish we had started sooner for Lucy. Lucy doesn’t feel stigmatized by her wheelchair; she sees herself as an 11-year-old who likes drawing and art, unicorns and galaxies – someone who gets excited to spend the summer at science camp. For Halloween, I used to think of ways to incorporate her wheelchair into our family costumes. Recently, she told me her wheelchair is just a wheelchair; it doesn’t have to be a costume. As a parent, you can’t ask for more than the opportunity to see your child grow into someone who loves and accepts herself. INDICATION SPINRAZA ® (nusinersen) is a prescription medicine used to treat spinal muscular atrophy (SMA) in pediatric and adult patients. IMPORTANT SAFETY INFORMATION Increased risk of bleeding complications has been observed after administration of some similar medicines. Your healthcare provider should perform blood tests before you start treatment with SPINRAZA and before each dose to monitor for signs of these risks. Seek medical attention if unexpected bleeding occurs. Increased risk of kidney damage, including potentially fatal acute inflammation of the kidney , has been observed after administration of similar medicines. Your healthcare provider should perform urine testing before you start treatment with SPINRAZA and before each dose to monitor for signs of this risk. The most common possible side effects of SPINRAZA include lower respiratory infection, fever, constipation, headache, vomiting, back pain, and post-lumbar puncture syndrome. These are not all the possible side effects of SPINRAZA. Call your healthcare provider for medical advice about side effects. You may report side effects to FDA at 1-800-FDA-1088. Before taking SPINRAZA , tell your healthcare provider if you are pregnant or plan to become pregnant. Please see full Prescribing Information . This information is not intended to replace discussions with your healthcare provider. References: Cure SMA. About SMA. Available at https://www.curesma.org/about-sma/ . Accessed: February 2021. SPZ-US-4066 03/2021

Alyssa Jones

Ways to Advocate for Your Medically Fragile Child in the Hospital

When your child is medically fragile, you often end up in the hospital at some point, and it can be overwhelming for both you and your child. Here are six ways we advocated for our child that helped us when she was admitted to the hospital: 1. Don’t accept any treatment plan without a reason. The first time we were admitted to the ICU we not only made them explain why they were suggesting certain treatments but also what the other options were. We were able to learn about our daughter’s medical care and what it meant to her condition. 2. Always attend rounds. This is where decisions are made and ideas and concerns voiced by all parties. There are often specialists and nurses present. Don’t be afraid to ask questions. You are part of your child’s care team. It also helps to discuss your goals with your nurse ahead of time so that they can help advocate for them. 3. You don’t have to click with everyone. As in every job there are people who do things their own way. Every nurse, respiratory therapist, X-ray technician and phlebotomist will be different, and if someone is being difficult, then it’s within your rights to complain. You may have to speak with their supervisor who will encourage you to work together. It usually gets the job done. 4. You know your child best. I know it sounds like a cliché, but this is one of the most important ones. Early on in our ICU experiences, the nurses considered giving our daughter a catheter. When they finally told me what they were planning, I immediately knew the issue. We had been so focused on potty training the previous months that she was holding it hell or high water! One conversation saved a lot of pain and anguish for all parties. 5. Set goals. They may be lofty, they may be a little outside the box and some may even seem trivial but not to you. From sitting up in bed to early discharge dates, always suggest goals and make sure they know that they’re important to you. 6. It’s not us against them. Sometimes it may feel like it when they’re pushing extreme measures, but at the end of the day, they want your child to be better. It takes a team effort to get to that end goal in the best way possible. We want to hear your story. Become a Mighty contributor here . Lead photo source: Thinkstock Images

Alyssa Jones

Moms of Kids With Special Needs Are Not Your Momspiration

As a parent of a medically fragile child, I am pretty used to getting the “Momspiration” lines. “I just don’t know how you do it.” “You are so strong.” “I could never do what you do.” Really? If your kid was diagnosed with an illness, you would stand by them. You would research treatments and take them to physical therapy and do whatever takes. Because that’s what moms do! You know who should be your momspiration? Stay-at-home moms. Moms of multiple children. Moms who shower every day. Moms who make their kids’ Halloween costumes. Working moms. Those are really inspirational moms. In fact, moms in general are inspirational! Generate life form? Check! Clean up that life form’s poop? Check! Don’t harm that life form when they roll their eyes at you in public? Check! (Mostly) So maybe all moms should get the “I don’t know how you do it.” But when it comes to moms with children who have special needs, a simple, “You are doing a great job” will suffice. Because as much as it seems like we are super moms from the outside for handling extreme circumstances, on the inside we are really feeling like the extreme circumstances are forcing our ability to do anything else out. Super reality check: my kids don’t always brush their teeth, and we are never good at being on any kind of schedule, and as much as we try and limit iPad time there seems to always be one day where I look over and don’t remember how long they have been staring at that screen. Unfortunately, the list could go on and on of items I am “supposed” to be doing and am failing at because I am trying to keep us all healthy and well adjusted to our life. So when you run into us at the pizza place it could be a special treat or it could be that I just ran out of energy to cook for the third night in a row, but there is no need to congratulate me for coming out in public with my child in a wheelchair. We want to hear your story. Become a Mighty contributor here . Thinkstock illustration by Dorling Kindersley

Alyssa Jones

Having PTSD When Parenting a Child With Special Needs

I know we are not supposed to say the word “normal,” but we all use it in our thoughts. This morning we almost felt normal. We got up, dressed, packed the lunches and loaded the kids up for school. I was off to work and my husband off to take the kids. But it wasn’t normal. I woke up and watched my daughter’s oxygen levels to see how our morning was going to go. We made her lunch and prepped her feeding tube bag. We loaded her into the car using a wheelchair lift. This is our life with a child with a life-threatening illness, specifically spinal muscular atrophy. And we have embraced it, in its non-conformity, its differences and uniqueness. But how has this life taken an unseen toll on us? When your child has a life-threatening illness, it requires you to occasionally save her life. Sometimes it even requires you to face her death, stare into the possibility of a future without her. Paramedics, firefighters and soldiers face issues with post-traumatic stress disorder (PTSD) for the difficult things they witness, but PTSD does not only affect those who fight for our country. What if the child’s life you save, the airway you clear, the heart you keep beating, belongs to your own child? The baby you birthed and nursed in the middle of the night? You just wake up and make lunches and go to work, right? You can do that until you are at the grocery store and there is an announcement over the loud speaker preceded by a loud beep, which reminds you of beeping hospital machines, and suddenly you are crying in the wine aisle (which seems almost fitting). But I pushed past that warning sign. And then a couple days later at work, the copy machine jammed and wouldn’t stop beeping. I started hyperventilating and generally lost it. After a quick Google search, website after website kept referring to PTSD. I saw common symptoms with what I was going through: no sleep, no desire to eat, lack of social interaction. But those come with our in-and-out of the hospital, endless doctor appointment-filled lives, right? Wrong. Because when there is a test of the Emergency Broadcast System and you “flip out” in the middle of a semi-crowded waiting room, it’s not normal. When my child turned blue, I calmly picked her up, carried her to her room and placed a plastic catheter down her throat until her breathing stabilized, yet I fear going to the grocery store. Other people, even those with medically fragile children appeared to be handling their lives well, and I felt guilty for even thinking the letters PTSD. And moms aren’t supposed to have mental breakdowns. They pull themselves together and make appointments, schedule the next holiday and make dinner. My friends and family couldn’t quite understand what I was going through; they thought a professional would be better suited. I was unwilling to take their advice then, just as hard as it still is to admit I need help. But I am nothing if not a problem solver, and as the symptoms got worse, it seemed that was the only way to solve my problem. What was harder than making the appointment or talking to a professional about my experiences, was allowing myself to have PTSD. If there is any advice I could give to other parents or caregivers experiencing something similar, it would be that trying any solution is the best option. And in this case, speaking to someone about your mental health and getting the help you need is the best solution.