‘It might be neurological.’ My heart plummeted. How can I go on if my kids have this rare disease?’: Mom’s 2 sons diagnosed with Duchenne Muscular Dystrophy, ‘We cling to hope’

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“September 6, 2017, is a day forever etched in my mind. It was the day I first heard the words Duchenne Muscular Dystrophy. Two weeks earlier, I had taken our oldest son, Jacob, to see a physical therapist following an incident that occurred in his gymnastics class. He began complaining of pretty intense leg pain and couldn’t finish the class. I tried to convince myself it was nothing to worry about, but my motherly gut instinct kept telling me to check into it further. I took him to a physical therapist, really only expecting to hear he needed some therapy, but I wasn’t expecting anything serious. We left the PT with a prescription for nighttime leg braces, due to tight heel cords, but I still wasn’t reading too much into things. As we awaited our next appointment, worry started to creep in. I was beginning to question the root cause of this problem he was experiencing.

Courtesy of Brooke Saalman
Courtesy of Brooke Saalman

September 6 started out as any normal day. I woke up, got the kids off to school, ran some errands, and proceeded to take Jacob to his first PT appointment following our initial assessment. After the therapy, I pulled the therapist aside and asked a few questions. She mentioned they weren’t legally allowed to diagnose but assured me my pediatrician would be seeing us soon and offered a long list of what the root cause of his problems could be. She said it could be this or that and then threw out the word ‘neuro.’ I still didn’t get too worked up, but upon returning home, I Googled ‘tight heel cords neuro.’ The first thing that popped up was Duchenne Muscular Dystrophy. I began to read Duchenne is a genetic and fatal muscle-wasting disease that causes boys to be wheelchair-bound by their early teens, affects the heart muscle, and causes death in the late twenties.

Courtesy of Brooke Saalman

Now, I not only feared this diagnosis for one of my children but both of them. I also read the symptoms and many of them began to add up. My children were late walkers and both lagged a bit behind in their gross motor development. As I read all of the information, my heart plummeted to my stomach and I burst into tears. I think I knew in the moment what we were up against. Just like that, life as I knew it changed in the blink of an eye. The next two weeks were a blur. Grief consumed me at the thought of what my baby boys could be facing. Up to this point, I thought I had two perfectly healthy boys. I kept hoping I would wake up from the nightmare. The grief was so intense. I barely ate, barely slept, and was constantly researching, trying to find another explanation. I didn’t think I could go on if my children had this progressive, rare disease.

In the meantime, we were waiting to see a neuromuscular specialist. We were putting in daily calls and had no luck getting a call back to get an appointment. After a series of events that unfolded the next two weeks, Jacob ended up in ICU at a nearby children’s hospital. Looking back now, I feel it was God’s way of getting us in front of the neuromuscular specialist and getting things in motion. The waiting had been agonizing but once things started moving, I felt a little relief. While Jacob was in the hospital, he had blood work drawn to be sent in for genetic testing. Two weeks later, we received the official diagnosis. Jacob indeed had what the doctors and I had suspected. He had Duchenne Muscular Dystrophy.

Courtesy of Brooke Saalman

One of our first miracles happened on the day we received those results. Jacob fell within the 13% of boys who had a treatment option available. A drug, which slows down the progression of the disease, had just been FDA approved. Hearing the news was honestly a relief after fearing the absolute worst-case scenario for many weeks. We saw the doctor again the following week and testing for our youngest son, Hudson, was started. This disease is genetic and affects boys, so we knew there was a 50% chance Hudson had it as well. A few days later, testing would reveal Hudson did have this dreaded disease. Once the diagnosis was confirmed, we began the insurance battle to get Jacob on the FDA-approved drug that slows the disease. At this time, our youngest son, Hudson, was only a year old and did not qualify for the medication. The process of getting insurance to cover this extremely expensive drug proved very difficult, and we chose to place Jacob into a clinical trial for another drug aimed to slow the disease down. He participated in this trial for a year and a half.

Courtesy of Brooke Saalman
Courtesy of Brooke Saalman

Unfortunately, the clinical trial was canceled in December of 2019. We woke up one morning, with no warning and got word the trial had been canceled. Once again, we were devastated. All the weekly trips 2 hours away from our home for infusions, all the needle sticks, the muscle biopsies, the port placement surgery, the EKGs, the echocardiograms, the physical therapy assessmentsall for nothing, and for no benefit to Jacob, who endured so much. It has been tough to recover from this setback. Since then, we have been constantly trying to get Jacob and Hudson into another clinical trial, which has proved unsuccessful. We have also been fighting to get insurance to cover the FDA-approved medication for Jacob. We were denied by our insurance three times, and have been so frustrated with how long it has taken to get insurance to agree to cover this medication, which can slow down or even halt his progression. With progressive diseases, time matters, and having to wait more than 6 months seemed excessive.

Courtesy of Brooke Saalman

After much frustration, my husband, Ryan, took to social media, calling out our insurance company and asking our friends to share our story. His post was shared over 2.7k times, and a few news outlets also picked up the story. Much to our surprise, a few days later we received a call from the Vice President and Chief Medical Officer of our insurance company. He called to let us know he was personally overturning the decision, and Jacob would be approved for the drug immediately. He sincerely apologized for all our family had been through trying to get this medication for our son. In such a tough situation for our family, it was a beautiful blessing to witness the power of community. In this fight against Duchenne Muscular Dystrophy, it takes a village, and our village went to bat for us.

Courtesy of Brooke Saalman

We have been truly humbled by the outpouring of love and support for our family. Our village gave an 8-year-old boy a loud enough voice that the insurance company overturned their decision in what the drug company has called, ‘One for the books!’ We have become the first family with our particular insurance to get this drug approved without going to the third appeal. We hope and pray this will make an impact for families who are walking the same path as us. If there is one thing we have learned in this journey, it is understanding is not a prerequisite to trustsurrender is. We strive to surrender to God’s plan each day, even when we don’t understand, knowing it far exceeds our worldly expectations. And it is in these moments, like what we witnessed with our insurance battle, God’s plan and His goodness in the midst of tough circumstances shine through. We cling to these tangible displays of God’s goodness and it helps us to move forward with faith, joy, and hope.

Courtesy of Brooke Saalman

Despite this disease, life is still good. We feel we have hit the jackpot with the two precious boys God has given us. They are brave, resilient, strong, and extremely adaptable. Their spirit is contagious and is already making an impact on those who are blessed to know them. The way they have handled the many battles they have already faced in their short little lives is nothing short of a miracle. As active little boys, it is sometimes hard to believe there is this storm brewing inside of them. We know what we are up against, but we also have a lot of reasons to have hope with so many promising drugs in development. Thanks to some amazing organizations, there are more and more treatment options becoming available, and we have heard it mentioned Duchenne may become a manageable disease and not a devastating diagnosis within the next 10 years.

Courtesy of Brooke Saalman

We have learned and grown so much these past three years since diagnosis. The pain hasn’t gone away, but it has become bearable. We now have days where Duchenne doesn’t consume our every thought. We have experienced joy and strength and peace, which surpasses understanding. There is more hope than we ever imagined with many transformative treatments in the clinical pipeline. Our children are thriving, and God has instilled in them an amazing ability to persevere and overcome. Life is different, and not what we expected, but it is still good with abundant blessings all around. Our perspective on life has changed for the better. We still experience scary unknowns, but we have learned to live in the moment and lean into God and our faith more than ever.

Courtesy of Brooke Saalman

We know the road ahead of us is long. This is a marathon and not a sprint. However, we trust and believe God will work many miracles in Jacob and Hudson’s lives. We have already witnessed many of those miracles. We feel we witnessed yet another miracle with the insurance approval we received. The way God foreshadowed this miracle has left us in awe and has again shown us His timing is nothing short of perfect. The night before we received the insurance approval for Jacob’s medicine, he had his last baseball game of the season. In the bottom of the final inning with two outs and the score tied, Jacob came up to bat and hit a walk-off RBI to win the game. It was a remindersometimes God shows up in the last game, in the last inning, with two outs and two strikes on the board, when the hope of a win is almost gone, and He crushes our expectations.

We know God has big plans for Jacob and Hudson, and we look forward to watching it all unfold.”

Courtesy of Brooke Saalman

This story was submitted to Love What Matters by Brooke Saalman of Cataula, Georgia. You can follow their journey on Instagram, Facebook, and blog. Submit your own story here, and be sure to subscribe to our free email newsletter for our best stories, and YouTube for our best videos.

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