Three kids and a dog will move you out of the city pretty quickly,” admits Bryan Butvick who moved with his wife Sara and their three daughters. He used to work in finance, but life inspired a career change into the health technology field.
Just before her second birthday, a little less than a year ago, Bryan and Sara Maher’s youngest daughter, Talulla (Lulu), was diagnosed with Marfan Syndrome.
“Lulu has two older sisters, one is six-years-old, the other four. We kept noticing that she was developing at a different rate than them. She was taller, lankier, very-doubled jointed, a bit flat-footed, a little clumsy and unbearably cute! Although, as adorable as some of her quirks may have been, we still had some uncertainty.”
There were just enough signs to make them think, something here is a little bit different.
“We went to our pediatrician a few times and asked her if she noticed anything and she said no, she looks great, she’s healthy, she’s going to be a little taller,” recalls Bryan.
And then finally, after a little more persistence, the pediatrician felt that there was a condition that might fit some of Lulu’s symptoms.
“She told us that it was called Marfan Syndrome. That she didn’t know much about it and that she wasn’t sure if we needed to look into it. After that, we started to educate ourselves immediately.”
Once they had the word, they knew they could move forward and figure out what was going on. Through The Marfan Foundation they found out about a screening at a local hospital that happened once a month. They took Lulu to the screening and one of the physicians, almost immediately, said “We have to wait for the official results, but I deal with children with Marfan Syndrome and I would say almost certainly that she has it.”
And sure enough she did.
After the entire family was screened for the syndrome, it was clear that Lulu’s syndrome was from a spontaneous genetic mutation.
There was a huge sense of relief for both Bryan and Sara. Now that they had answers, they could go about making Lulu’s future a safe and bright one.
Doctors began to run more tests.They did regular physical tests like measuring her arm span. They measured her height. Then they did an echocardiogram on Lulu’s heart and they were able to see that it was slightly enlarged.
“It wasn’t at a dangerous size,” said Bryan. “Not massive, oh my god, we’re looking at a dissection tomorrow enlarged—but larger than it was supposed to be.
Brian and Sara then took Lulu to an orthopedic specialist, to make sure her spine was in a good place. (A practice they’ll have to keep up with as she grows and scoliosis becomes a larger concern.) They also took her to the eye doctor so the lenses around her eyes could be tested. Fortunately, they were strong. They later found that Lulu was also slightly concave in the chest—another classic symptom of the condition.
After the diagnosis, the couple became pretty immersed in The Marfan Foundation and found its resources to truly be a lifesaver.
“We relied so much on them. We met other patients through them, and met other doctors,” said Bryan. “Our doctor in Long Island, Dr. Romano, is fantastic. And she connected us with others. We debated over two different medications but it’s basically a choice between traditional betablockers and Losartan. After a consultation we decided to go with Losartan and we decided to begin that right away. The hope is that it slows down the progressive nature of some of the symptoms that come with Marfan.”
Though battling the physical symptoms was off to a great start, the family couldn’t escape the emotional journey of the diagnosis.
“You go through the first couple of weeks and are like ‘Oh poor us!’ and then you dust yourself off and say ‘Okay, this is happening, what’s next?'”, said Bryan. “And coincidentally shortly after her diagnosis there was a walk in New York and we were immediately propelled towards these families who had children at all ages with this diagnosis.”
Bryan says the walks and marathons were uplifting. He even met adults with the syndrome, allaying a nagging concern that Lulu might not experience the kind of normalcy they wished for her in the future.
“The advice I have for other parents getting this diagnosis, first of all, is to go onto The Marfan Foundation website and consume all the information there. Look at all of the content – its current, comprehensive and written in a way that is easy to understand. The second thing I would do is get involved. Watch some of the events and go—even if you feel like you’re not ready to connect with others—go, because it can be lonely at times. Once you start talking with other parents you realize how big the community really is. That you’re not alone.”
“Everyone wants to share, and they want to learn at the same time. It can be very debilitating—but once you know more about the condition you can make a significant impact on your child’s life. Lulu’s life will be better because of what we know now. That’s all we can wish for other families.”