‘I was giving my son a bath when I noticed 3 little pubic hairs. I got an ominous call from our pediatrician at 6:30 in the evening.’: Mom works to cure son’s Duchenne Muscular Dystrophy, ‘Where there is life, there is hope’

More Stories like:

“Two years ago, my family of five traveled to California for my husband’s industry conference. I had been the only family member to have visited California. This coupled with our mantra for the previous two years. ‘Live every day to the fullest,’ made it a no-brainer to take our 3 kids out of school and spend 10 days in the Golden State. For whatever reason, that trip was a turning point for me. I started to feel empowered by this life test and I remember thinking to myself on the flight, ‘We are going to beat this. I don’t know how, but I know if anyone can do it, it’s us.’

My husband and I met when we were 20 and our love story began right then. We were kids, but I knew we were destined for a beautiful life together because we were and still are so deeply in love. What we didn’t know was we would face unthinkable challenges in the life of parenthood that would make us question our simplest dreams. We married when we were 25, had our first daughter two years later, and our second little girl just two years later. I had always wanted three kids and I always thought I’d be a ‘boy mom.’ After a few months of trying, I was pregnant in October 2014 with our third baby, the sex unknown until the day he was born, and our prayers were answered.

I had an easy pregnancy as I did with my first two. Max (Jesse Maxwell Herzog) was born 2 weeks late at a whopping 10 pounds 15 ounces on July 13, 2015. That first day post-delivery I truly felt like I was floating. It was pure bliss. Our family was complete and our hearts were overflowing. Of course, when mom is 5’9, dad is a college athlete, and height runs in the family, the kid was automatically deemed destined for greatness. He was immediately dubbed ‘baby Gronk.’ Our dads could not have been prouder, and my dad had finally been gifted a boy through his grandson. Max was always a healthy, happy, robust little baby. He was the easiest, most joyful little guy and I would have signed up for another one in a heartbeat!

Courtesy of Stephanie Herzog

One day in late October, my mom and I were giving him a bath and noticed three little pubic hairs. I am not an alarmist, so I waited until his November checkup to show our pediatrician who sent us for routine blood work to check his hormone levels. It turned out to be simply a surge in hormones deemed ‘benign baby puberty,’ aka no big deal!! However, the night before Thanksgiving, I ominously got a call from our pediatrician at 6:30 in the evening. We were at our friend’s house drinking wine while the kids were making cookies, just living our charmed life.

Courtesy of Stephanie Herzog

We were told that he had an extremely high liver enzyme count, which quickly led us to the Yale Liver Center. The doctor abruptly gave Max a quick examination and immediately said, ‘Your son doesn’t have liver disease. I believe he has something in the muscular dystrophy umbrella.’ WHAT?? This was the moment our world flipped off its axle.

The very next day, he had confirmation that his CPK levels (a common indicator of Duchenne) were at 18,600, while a normal adult’s CPK levels were typically 80. He was 6 months old at the time. That was a Friday, and that entire weekend felt like a funeral in our home. Our parents and sisters were by our sides as we just sat and cried at the loss of what was supposed to be his charmed life. I cried incessantly and the overwhelming feeling of grief felt too much to handle. I know this seems completely vain, but I had this constant vision of this strapping boy…I imagined looking up as he embraced me at fifteen years old, but now I had to figure out how I’d find the strength to lift that same boy out of a wheelchair.

Courtesy of Stephanie Herzog

These thoughts and more overwhelmed me day and night. Finally, we were able to muster the strength to disclose this with our closest friends who we knew would share our sadness and help support us through this new looming diagnosis. We were waiting on the genetic confirmation, but I think we knew in our hearts what it was. What we didn’t know was why. Why us? As it turns out, I am not a genetic carrier of this disease, not that it makes this any easier, but certainly relieves those underlying fears of our girls being carriers and at risk of cardiomyopathy.

My husband and I are positive thinking individuals. We know many who suffer from mental illness, and I do not envy them. I am grateful to have a happy positive outlook on life. That said, I’m not sure how I would have gotten through the first year without my husband and without knowing ‘what makes me happy.’ When you are in your deepest darkest days in the middle of winter, you CHOOSE to put a smile on your face and forge on. After a week of crying, I was SICK of it and had to figure out exactly what made me happy. So, I made a mental checklist in no particular order: blasting good music in my car, accomplishing things daily or long term, planning things to look forward to. And so it began…lots of loud music, checklists, and planning fun stuff for my family. It’s what got me through the day, at least for the first year. The truth is, like the Tim McGraw song, ‘Live Like You Were Dying’ is a beautiful way to live your life. But dammit, it can be exhausting.

Courtesy of Stephanie Herzog

Thankfully, I am very good at compartmentalizing, and in this case, I oftentimes did so with this diagnosis. I was grateful that on the surface anyone who met Max had no idea what his future held. He made all of the milestones a healthy toddler made including walking, talking, eating, and playing normally like every other kid. This was a gift for so many reasons. One, it allowed us to ‘come out’ to our neighbors and very tight knit community on our own terms and two, it afforded us the time (a hot commodity in the world of Duchenne) to let life do its thing which serendipitously led us to hope: Rich Horgan and Cure Rare Disease. Often though, the fear relentlessly reared its ugly head at night, and I could not shut it off. Again, overwhelming. So much so that I couldn’t find my breath and often cried myself back to sleep when I felt hopeless and out of control.

Let’s get back to Rich Horgan though…that guy! So, I’m having lunch with my college roommate down in Fairfield catching up on life in March of 2018. I get a call from my husband saying, ‘So this is probably not anything (we are always guarding our hope!), but I just got off the phone with this guy Rich Horgan and he’s working with a lab trying to cure his brother who also has Duchenne…he’s driving through Connecticut on Sunday and wants to meet us for coffee.’  Call me crazy, but I immediately got off the phone with Jesse and knew this was something. I knew it. I cried out of happiness with my girlfriend at the thought of having some conduit to cure our son on our own accord.

I should mention Max has a rare mutation, which in the world of Duchenne, everyone is battling a rare mutation. Every child has a different gene mutation, sometimes a deletion, sometimes a duplication, but rarely does any child have the same mutation as another, which makes curing this disease very expensive and not attractive for biotech or pharmaceutical companies who are for profit. Most boys have deletions, but Max has a duplication. He would never get any hope of treatment, let alone a cure if we left it to ‘the experts.’

Courtesy of Stephanie Herzog

Shortly after our trip to California around Christmas 2018, we got yet another opinion from a top doc at Columbia Presbyterian, in the midst of my awakening, if you will. On the drive home, it occurred to me neither Jesse nor I were medical experts of any kind, but rather two people who are pretty awesome at networking and bringing the right people together. I remember confidently proclaiming to my husband over dinner, ‘I don’t know what it is–whether it’s a special cocktail of some new gene therapy and a paleo diet (I said in jest), but I do know if anyone can cure this kid, it’s us. We were chosen to be his parents for a reason.’ Of course, Jesse wholeheartedly agreed. From that point forward, all good things happened. Truly.

In April of 2019, I was asked to join Rich Horgan’s Cure Rare Disease board. Completely out of my league, having never served on a board, I was honored and grateful to be so close to an organization that could help my son. It was on this call that he announced the CRISPR lab at Yale had successfully edited his brother’s gene mutation, allowing his cells to autocorrect and produce dystrophin on their own. He was cured, at least in the lab. It was the first time I’ve heard of anything of the sort. It sounded like science fiction to me, but it was real, and I couldn’t be more excited.

This was the beginning of making our family’s quiet battle with Duchenne public and sharing the news of Max’s diagnosis with our extended community. Frankly, I remember talking to people about it and feeling empowered we were going to cure him, but now I was crying tears of happiness at the love and support of everyone around us. It was palpable. I’m not sure I could have spoken so bravely to each and every person following our announcement the Summer of 2019 had we not had the hope of curing him.

I feel a huge sense of guilt because I don’t believe I live the life of a Duchenne mom. My son is 5 years old and is still able to dress and feed himself and walk to the car. My only sadness is fearing what was to be our future, so believe me I am grateful every day to be where we are. This past January 2020, Max had a muscle biopsy where they took about a thumb’s worth of his quadricep muscle to try to figure out his exact mutation while also trying to edit it. In June, the same lab that successfully edited Rich’s brother’s mutation, also successfully edited Max’s mutation, allowing his cells to produce dystrophin on their own.

Courtesy of Stephanie Herzog

Since April of 2019, we have boarded 11 Duchenne boys and several other patients in the muscular dystrophy umbrella with the plan to cure them. It is nothing short of a miracle. I’ve been saying since we shared our news with our whole community, ‘Not only are we going to cure our son, but we are going to cure this disease with each boy, one by one.’ Our dream is becoming a reality, allowing me to bring back that dream of the 15-year-old kid, outgrowing me and standing tall.

I had a fellow CRD mom ask me the other day, ‘What has the organization done for you?’ A loaded question for sure, but in short, I told the story about our visit to Columbia Presbyterian when I met with yet another genetic counselor educating me on the likely ramifications of this disease. She said hopefully, ‘If your son ever has kids, he cannot pass this to them.’ I was disgusted. He would likely lose the ability to walk around age 10 and we’d be lucky to have him with us passed his 20th birthday. Strangely enough, I’d like to kiss that lady today. I now have hope that not only will my son live a beautiful life, but one day, he could have a family too. This has become our mission and we won’t stop until we cure every kid with this disease.

To the moms out there fighting the fight and taking care of their kids, I say, we’re coming for you! Where there is life, there is hope. I know there are days we struggle to find that hope, but we have to find it, even if it’s a sliver. Happiness is an intangible that strangely comes and goes but for the silliest of reasons. I say force yourself to laugh, force yourself to smile, and fake it till’ you make it! I am lucky enough to have a guy in my life who has the same weird sense of humor that I do; we find the funny in the most mundane things, but it keeps us going. When all else fails, spend the day with your kids and just ‘be.’ That makes me the happiest, and them too. A couple of months ago Max asked us, ‘What am I going to be when I grow up?’ I wholeheartedly told him with truth and happiness, ‘Anything you want to be!’”

Courtesy of Stephanie Herzog

This story was submitted to Love What Matters by Stephanie Herzog. You can follow her journey on Instagram. 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.

Read about other rare forms of Muscular Dystrophy here:

‘I went on countless job interviews, but I didn’t ‘look the part.’ The second they saw me, the whole vibe changed.’: Woman with Nemaline Rod Myopathy embraces disability, ‘I want to be seen for the smart, fun, boss babe that I am’

‘I’m lying on the ground crying. ‘I can’t bear this.’ His life will be over before it really begins.’: Mom advocates for son’s terminal illness, Duchenne’s Muscular Dystrophy, ‘Strength is more than muscle’

Please SHARE this story on Facebook and Instagram to encourage others to live life to the fullest.

 Share  Tweet