“And There My Life Began”: Trip of a Lifetime Leads to Conference, Loeys-Dietz Diagnosis
After a lifetime of medical issues that were at first unexplainable, then eventually labeled as Marfan syndrome, at 28 Rachel Martin of Ireland wasn’t up for a trip to Boston and the Marfan Foundation’s 2008 Annual Conference.
“It’s not for me,” she thought at the time. “I don’t fit in, and I’m not going.”
Rachel’s brother, who lived in Boston, and her entire family urged her to make the trip – in fact, they pushed and pushed for her to travel to the United States and seek more answers about her health. Rachel still felt something was holding her back. Then, a fortunate turn of events gave her the last little push she needed. Aer Lingus was running a sale on flights to Boston during the same weekend that Conference was scheduled to happen. Suddenly attending moved from the realm of possibility to reality.
“The universe has this weird thing of making things happen,” Rachel said. “So that was that, and I was on my way,” she said.
A Lifetime of Medical Questions
Born with poor muscle tone and distinctive physical features, Rachel received early medical attention. Healthcare providers attempted to offer answers as to why she had multiple health issues. However, no clear-cut diagnosis was made.
Within her first 18 months of life, Rachel had repairs to her cleft palate, bifid uvula, and hernias. Throughout her adolescence, Rachel underwent multiple surgeries. At age 13, she needed a repair to her pectus carinatum, followed by surgery on her feet at age 16 to straighten her toes – and experienced many additional medical issues during her growing up years. The worst part? Nobody was sure why Rachel was experiencing so many health concerns.
“Kids need an explanation,” Rachel said. “I couldn’t give an answer to anybody as to why.”
A Marfan Diagnosis
Medical teams speculated about various connective tissue conditions. Providers considered Beals syndrome and Shprintzen-Goldberg syndrome before they ultimately decided that Rachel likely had Marfan syndrome.
In Rachel’s mind, being diagnosed with Marfan syndrome never felt like it accurately represented her. She noted that she had physical features that differed from those of people living with Marfan syndrome. Rachel always felt like she was on the outside looking in.
Then, she arrived at Conference, and everything changed. The answers she had been seeking were close at hand.
Conference: An Accurate Diagnosis at Last
When Rachel arrived at Conference in Boston, she was happy to learn that the Foundation had set up clinic appointments for her – she was grateful for the chance to be seen by experts.
Rachel prioritized cardiology, genetics, and ophthalmology appointments — as she had never previously had proper scans in those areas of testing. She hoped learning more would lead to new insights and answers. Rachel was accustomed to her mother coming with her to appointments, but at Conference she was navigating appointments without her mom for the first time.
During one of her examinations, Rachel finally heard words that lined up with her experiences, helping her feel truly “seen” for the first time: “I don’t think you have Marfan…I think you have something called Loeys-Dietz, have you heard of it?”
She answered with, “Uh, I think I have,” but now says with a chuckle that at the time, “I don’t think I would have heard of it.”
The doctor went on to explain that given the size of Rachel’s aorta, urgent surgical repair would be needed.
While grateful to finally have a more accurate name for her condition, Rachel began feeling overwhelmed. “You what?” she described thinking to herself in that moment. “It’s not one [thing]…It’s the whole package together, and I was like, ‘Who do I say what to, how do I start to process this?’”
It all felt like too much at the time, and Rachel recalls making her way to a lobby and waiting for her brother to come and get her. From there, she told him everything she had learned.
“I don’t remember how much of it I was taking in at the time,” she said. She recalls asking her brother, “How am I going to tell Mom and Dad?”
The next day back at Conference, Rachel had the chance to meet Dr. Bart Loeys and Dr. Hal Dietz – the scientists who first identified Loeys-Dietz syndrome (LDS). Feeling a sense of information-overload that was nearly immobilizing, initially she hesitated about connecting with them. But, Rachel summoned the courage to meet with the scientists. She made her way to Dr. Loeys and told him her story.
“Do you know of anyone that can help me?” she recalls asking Dr. Loeys. He provided information on a geneticist who worked in Dublin, one whom he was willing to personally connect with Rachel.
Dr. Loeys also introduced her to Dr. Dietz, who reinforced the diagnosis she had received the day prior.
Though grateful for answers, Rachel like many who are seeking a diagnosis or newly diagnosed, felt that all the information was a lot to take in at first. “That was the end of the Conference for me, I couldn’t deal with anymore,” she said.
Back home in Ireland, genetic testing confirmed what Rachel had been told at Conference. “I had the genetic testing done here in Ireland on the day I met the geneticist to confirm the clinical diagnosis I had received in the US. The sample was sent to Dr. Loeys’s lab in Belgium for the testing.”
Once back home, Rachel also made an appointment with a cardiac surgeon who knew Dr. Dietz and had done his residency at Johns Hopkins. 8 weeks after Conference, Rachel was having valve-sparing root replacement surgery (VSRR).
“And there my life began,” she said.
A New Life
Now 44, Rachel points to that 2008 Foundation Conference, and her surgery thereafter, as her starting point in life and the beginning of living authentically as herself.
“I’m okay to be who I am…I realized I was struggling to be this person I was never going to be,” said Rachel. “I know why I have this. I have nothing to prove to anyone.”
Rachel has since been able to make friends that she feels truly understand her, as well as her experiences. Before surgery, mutual friendship was hard to come by.
“[For] 27 years I was bullied,” said Rachel. “[After surgery], I could take control because now they could understand me, I could understand myself, and I could get rid of the people that I didn’t need.”
Rachel has a wonderful group of friends who have been fantastic in her life, supporting her in ways that she could have never imagined as an adolescent.
Advocating for children by telling her story to parents who have not had exposure to LDS before their child’s diagnosis has been a newfound passion of Rachel’s since her surgery.
“My reason to tell my story is to give hope to parents with young kids who are struggling,” said Rachel. “None of us know what tomorrow is going to bring…but if I, as a 44-year-old, who has been through not only the medical side but the psychological side [can help]…I need to try.”
“You need to realize how lucky you are to have a diagnosis for your child or for you,” she said, noting that the struggle of not knowing weighs on you over time–a struggle that Rachel would not wish on anyone.
“You can’t explain yourself, you don’t know who you are…It doesn’t happen the way you want it to happen,” said Rachel.
Rachel also experienced a Type B aortic dissection and resulting thoracic aneurysm in January 2024. Her dissection is medically managed currently; she will have to have surgery on it and the thoracic aneurysm at some point in the future.
“I’d like new families to know that these things are possible to live through,” said Rachel.
Rachel looks forward to continuing to enjoy life, authentic friendships, and helping others. “I’m still here, and I have no plans on going anywhere. I’m not done yet,” said Rachel, smiling from ear to ear with a look of determination in her eyes.