Advocating for a Child With a Rare Disease

If you knew your baby could be screened for a rare, devastating disease with a simple heel prick at birth, would you do it? If you knew the disease could quickly take away your baby’s ability to breathe on their own, would you want to treat him or her as soon as possible?

Three years ago, when our little girl Cameron was born with spinal muscular atrophy Type 1, we didn’t have those options. Our hope is that by sharing our story, all parents whose children face what ours did will have these options.

We fell in love with Cameron instantly. There is nothing that will capture a parent’s heart like seeing your baby for the first time, getting to hold them and wrap them in love. We were a happy family of four, and the first few months were filled with new baby charm.

[See: 5 Rare Diseases You’ve Never Heard Of (Until Now).]

As Cameron grew, it was hard not to compare her early milestones to her older sister. You try not to overanalyze when you notice differences among your children, but something was not sitting right with us. Cameron wasn’t moving her legs much, and we noticed she went from being able to cry loudly to opening her mouth with no sound coming out. When we took Cameron to her 4-month-old well visit, our pediatrician tried to ease our concerns. We were told babies develop at their own pace, not to worry and they would reevaluate her in a few months.

Something was not right. We both knew it, but what was it? Rather than progressing, Cameron appeared to be losing her motor skills. We quickly shifted from concerned parents to passionate advocates.

We repeatedly called our pediatrician’s office. We were initially told to return in two months for her next check-up — guidance we refused to accept. We needed to know what was going on with Cameron, so we persisted, and after finally seeing Cameron and agreeing with our assessment, our pediatrician had an MRI scheduled for later that week.

In the meantime, we anxiously researched and tried to understand what was going on. As we researched what could be causing her symptoms, we came across an article about a little girl around Cameron’s age that passed away from a genetic disorder called SMA and began to wonder if this was the cause of Cameron’s regression. What she was experiencing was similar, and even though it was rare, we knew it could be a possibility. We also knew if it was in fact SMA, we had to work quickly to give her the best quality of life.

SMA is a progressive, rare genetic disease caused by the lack of a functional survival motor neuron 1 (SMN1) gene. Each year, 1 in every 11,000 babies is born with the disease. In fact, SMA is the leading genetic cause of infant death. SMA progresses quickly, meaning the earliest possible diagnosis and treatment is crucial. If left untreated in one of its most severe forms, Type 1, children often require permanent feeding and breathing support or pass away by their second birthday.

When the MRI didn’t reveal anything out of the ordinary, we pushed to have her tested for SMA. Her doctors were apprehensive — they thought SMA was too rare — but we wouldn’t take no for an answer.

[Read: What to Do If Your Child Is Diagnosed With a Rare Disease.]

We did not wait for Cameron’s results idly. We made calls, spoke with experts and researched treatment options and clinical trials. During those nights of uncertainty, we slept by her crib to make sure she was still breathing.

Finally, the call from the neurologist came, and our fears were confirmed. Cameron was diagnosed with SMA Type 1. We did not have time to focus on the negatives or dwell on our circumstances. We had to save our baby.

Ultimately, we discovered a SMA clinical trial option at Duke University Hospital, and Cameron was treated with a gene therapy for SMA.

We are confident that advocating for our daughter saved her life. Our child had no time to waste — if we had waited until her next well visit, if we had not pressured doctors to test her for SMA, if we hadn’t trusted our instincts she would have aged out of the clinical trial.

Our experience with Cameron could have been different. Millions of babies across the country are routinely screened at birth for conditions that can affect a child’s long-term health or survival. In 2018, SMA was added to the Recommended Uniform Screening Panel, a federal list of often devastating disorders that require early intervention and have available treatment options. Despite inclusion on the RUSP, currently only 32 states screen for SMA as part of their newborn screening program. North Carolina screens as part of a pilot program, “Early Check,” which new and expectant mothers can enroll in from their second trimester until four weeks after their child’s birth. However, Early Check is not mandatory, and not all doctors share this information with parents. Cameron was born before Early Check was in place, but if she hadn’t been, maybe her diagnosis and treatment would not have been delayed.

Today, we celebrate all of Cameron’s milestones. We are overjoyed by the progress she has made. She is now able to lift her head up, sit unassisted, roll and feed herself and talk to her older sister all day long. We are working on reaching other milestones as she continues to build strength.

Yet, we know more must be done to save other families from having to fight to obtain a diagnosis. For the doctors providing care to expecting parents, our family urges you to please tell your patients about the Early Check program. Any early screening efforts are better than none at all.

For the pediatricians, please educate yourself on the signs and symptoms of SMA. Take a moment to listen to concerned parents. It’s possible that — like us — their intuition was correct, and something is truly wrong with their baby.

[See: 12 Medical Emergencies You Need to Address Right Away.]

To legislators, we strongly urge you to have SMA added to your state’s newborn screening panel. We know many parents will advocate for their children like we advocated for Cameron. But shouldn’t we live in place where our children’s health is prioritized? Help us ensure no parent is put in a position where they must ask themselves, “What if?”.

For more information about SMA and to inquire about what you can do to ensure that babies in your state are screened for this disease, visit CureSMA.org/ActionCenter.

More from U.S. News

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Advocating for a Child With a Rare Disease originally appeared on usnews.com

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