A Beacon of Hope for Rare Disease Parents

Her sunny disposition and cheeky sense of humor may give the impression that Maddy has had an easy hand in life. However, beneath this jubilant exterior is a woman who has undergone far more struggle than most, specifically regarding her first pregnancy.

As an adopted child, knowledge of her family history was a subject Maddy had not given much thought to before thinking about having a baby of her own. Given this ambiguity surrounding her biological parents and her genetic background, Maddy thought it may be a good idea to speak to her OBGYN before conceiving in an attempt to cross some T’s and dot some I’s.

It was this initial interaction with her OBGYN that marked the beginning of a string of encounters in which healthcare professionals, those meant to guide patients to make sound health decisions, failed Maddy. After meeting with her OBGYN and having carrier tests performed to screen for potential genetic risks, Maddy was told she would have the results back in a couple of weeks and to “go ahead and start trying” – advice that would go on to bear enormous weight for the couple despite its nonchalant delivery. With no reason not to trust the words of this healthcare provider, Maddy and her husband got pregnant within 4 weeks of this visit. By then, her carrier screening tests were available, relaying results that dimmed the excitement of the couple’s new pregnancy.

Maddy’s results indicated she was a carrier of cystic fibrosis and a premutation carrier of fragile X syndrome. As someone unfamiliar with fragile X syndrome but aware of cystic fibrosis and its devastating effects, these results naturally caught her attention first, inciting a fervent mission to understand what this cystic fibrosis carrier status might mean for her unborn child. Acknowledging these anxieties, her OBGYN immediately jumped to follow up on the cystic fibrosis carrier diagnosis, performing a carrier screening test on her husband that ultimately ruled this disease out as a risk to her developing fetus. The fragile X premutation carrier diagnosis, however, was never addressed, leaving Maddy to reach out to the genetic testing company herself to understand what this mysterious disease might mean for her and her baby.

The genetic testing company explained to Maddy that a premutation carrier of fragile X syndrome refers to someone who has 55-200 CGG repeats in the Fragile X (FMR1) gene located on the X chromosome. A carrier of a full mutation of this disease, however, is someone who has inherited 200 or more CGG repeats in the FMR1 gene and generally experiences more severe manifestations of this disease. Following suit with the flawed advice she received from her OBGYN, the genetic testing clinic affirmed that Maddy only needed to worry about fragile X if her baby was male, reassuring her that females are simply not affected by this condition – a statement that could not be further from the truth – and that a sex test would be the next logical step to assess her baby’s risk.

Trusting the words of this genetics professional, Maddy had the sex test performed. While such a moment should be an exciting and momentous occasion for expectant parents, this event was corrupted by the looming possibility of their unborn child’s inheritance of this mysterious genetic disorder. As luck would have it, the sex test revealed the results the couple was afraid of – they would be having a son with a 50/50 chance of being affected by fragile X syndrome. With this news, Maddy and her husband traded balloon-popping and cake-slicing for frantic phone calls and anxious conversations.

While no parent ever wants to think back on their pregnancy as something negative, reflecting on this pivotal moment, Maddy aptly frames the reception of this news in a way that any parent finding out about a rare diagnosis in their child can relate to. Her usual cheeriness dulling, she says, “It’s like grieving a person who is still alive, they’re not dead, but they’re not this fake person you made up in your head when you got pregnant.”

Unfortunately, the couple’s saga of misinformation and misplaced trust continued as genetic counselors failed to determine the details of their son’s diagnosis with an amniocentesis test. Specifically, while this test was able to confirm their son had in fact inherited his mother’s mutated X chromosome, it reported inconclusive findings about whether or not he inherited a full mutation or premutation, leaving the expectant parents to wait in an anxious limbo until their son’s birth to learn of his medical fate.

With his eventual birth, it became difficult to hold on to the false hope that he had been spared of the effects of fragile X as he quickly began to miss developmental milestones and display different behaviors. By the time Maddy was able to get an actual genetic diagnosis – a whole 18 months after his delivery – it confirmed that he had inherited a full mutation in the FMR1 gene.

With the official diagnosis, Maddy, like any concerned parent, immediately started looking into care and treatment plans to maximize the health outcomes of her son. Unfortunately, this expedition only confirmed her previous lost faith in healthcare professionals as appointment after appointment she found herself having to explain what fragile X syndrome was to the professionals meant to be offering her medical advice. Coming to terms with this realization that doctors were not an all-knowing, reliable wealth of medical information, she justifiably recounts, “How can someone advise me on my medical care if they don’t even understand what I have?”

Recognizing that she was alone in this mission to get her son the best treatment and care, she became an expert in fragile X syndrome, taking on the role of both advocate and educator at each appointment. Watching medical conferences and reading scientific journals about fragile X to obtain the most accurate and extensive information to make her son’s life as fruitful as possible, Maddy has since dedicated every free moment to learning about her son’s condition. While her motivation is obvious, when prompted about how she manages the fatigue from this exhausting effort she says with her characteristic frankness, “If I didn’t put in the work myself, my child would be one of the neglected children with fragile X misdiagnosed with autism and not getting treatment at critical times for proven treatments that work.”

Unfortunately, this sentiment is not one she finds to be unique within the rare disease community. Expanding on this massive crack in rare disease management, Maddy laments that, after receiving the initial diagnosis, parents of children with rare diseases are left to essentially “flop around.” There’s no roadmap to dealing with a rare disease diagnosis, no pathway to support or guidance towards how to take the next steps with this information, or even guidance as to what this diagnosis means for parents who have just learned of their carrier status. This utter lack of information maroons parents on islands of uncertainty and fear, leaving them to face the daunting decision to either open the door to the wall of scary and frightening research about their child’s condition that they may or may not even have the capacity to understand, or simply throw their hands up, accepting their child’s condition and trusting the medical advice provided to them at face value by healthcare professionals.

Reflecting on her own experiences, Maddy explained that in a perfect world, there would be a streamlined, comprehensive process for parents who have just been faced with this life-altering news about their child’s health. She expanded that parents would receive a roadmap for all their options, given any and all necessary information about what next steps should be taken for their family. “Healthcare providers,” she stated with a longing fueled by her own lived experiences, “would be the people in my corner, actively engaging in a partnership to guide me towards informed health decisions.” Her exhaustion clearly evident, she closed by saying that her, “dream healthcare professional would be someone who simply already knows about fragile X,” – a statement that speaks to the devastatingly low bar her experiences in healthcare have set.

The path Maddy has endured from the time she first learned of her pregnancy to her life as a parent of a child with a rare disease has been far from smooth. However, despite the many obstacles and distressing encounters with the healthcare system that threatened to break her, she remains a beacon of hope for parents of children with rare diseases. Through her struggles, she has proven that parents can survive and even thrive against a system that feels like it is actively working against them – her strong will and dedication to her son’s happiness prevailing over every challenge she has faced.