In 1962, Jeff was born a month and a half premature and shortly thereafter experienced what would be a string of seemingly unrelated symptoms that would span decades. As an infant, he had a lot of trouble feeding and gaining weight. At 1 year old he had to have a hernia repaired and six months later, another. He was “pigeon-toed” and had to wear corrective braces on his feet. In high school, he began experiencing double vision.
As Jeff tells it, “Despite those difficulties, I did all of the things that others did. I even became an Eagle Scout. I just wasn’t very good at anything physical.”
He went on to earn a bachelor's degree in philosophy and religion and upon graduation, moved to Pennsylvania. Then when he was about 25 years old, Jeff says that he hurt his back and that “opened a whole can of worms.”
He was sent to UPMC Presbyterian to see a back specialist and to the old Children’s in the Oakland section of Pittsburgh to see geneticist Angela Lin, MD. They began running tests including a CT scan and an MRI to try to identify the causes of some of the other symptoms Jeff had been experiencing, such as the double vision. They discovered that Jeff had Chiari malformation type 1, a condition in which brain tissue extends into the spinal canal. It occurs when part of the skull is misshapen or smaller than is typical, pressing on the brain and forcing it downward.
In the early 2000s, Jeff had several surgeries on his back and neck but each time, the bones would not fuse or would move again, pressing Jeff's brainstem or compressing discs and causing pain. At one point, the non-fusion led to him breaking rods in his neck.
All this confirmed he was dealing with connective tissue problems, but without a clear diagnosis. Jeff was sent to a few different hospitals across the country to try to find answers and was unsuccessful.
Jeff married in 2007 and maintaining a busy lifestyle despite some of his symptoms and challenges.
In 2013, Jeff was introduced to and began working with Suneeta Madan-Khetarpal, MD, a clinical geneticist at the new Children’s. He was assigned a genetic counselor, Leslie Walsh, MS, MPH, CGC, who would provide him with information and support about his diagnoses.
Genetic counseling is an important component of the comprehensive services the Division of Medical Genetics at UPMC Children’s offers. Our genetic counselors have graduate degrees and experience in medical genetics and counseling. Their multiple roles include helping to identify families at risk, serving as patient advocates, helping families understand genetic disorders and their consequences, providing supportive counseling, and counseling families who may be at risk for inherited conditions.
Jeff notes that it was around this time that genetic testing was just beginning to be paid for by insurance. After almost 30 years of talking with various doctors and not having answers, in 2016 genetic testing confirmed a diagnosis of Loeys-Dietz syndrome, type 4. Loeys-Dietz syndrome is a connective tissue disorder that was only first described in 2005.
Tests also revealed that Jeff had an uncertain finding in the gene for Ehlers-Danlos syndrome, a group of inherited disorders that affect the connective tissues — primarily the skin, joints, and blood vessel walls. Jeff explained that in his body, it’s as if his ligaments and tissue were made of silly putty, causing them to stretch easily. These test results to some degree offered a “loose connection” between his various physical issues.
From that point on, having concrete diagnoses has allowed Jeff to receive more specialized care for his condition and has also helped identify other family members of his that were at risk.
Jeff articulated three ways that working with Dr. Madan-Khertarpal and Leslie has changed his life.
First, he says, Dr. Madan-Khertarpal and Leslie gave legitimacy to his physical issues. “When I first saw doctors about various symptoms, many were old school,” said Jeff. “I was met with some skepticism as if some believed I didn’t really have anything going on, because I didn’t look that different and there was little data then to point them in the right direction. It was difficult in those days to get some doctors to believe I had something strange happening.”
By 2010, Jeff says that things had changed a great deal within the medical genetics landscape. Doctors had begun to hear about rare diseases like Ehlers-Danlos.
“Now, when I go to the doctors, they understand what I have is very legitimate. They don’t question me or look at me funny, like someone that just ‘cries wolf’ at everything, and even have a course of action. These genetics teams validated what I had going on.”
Second, Jeff appreciated how Leslie and other genetic counselors “take a plunge” into learning about the specific disorders and syndromes that each patient is diagnosed with.
“With the genetics doctors, the diagnosis is their thing – making sure clinically this is what it is. Leslie was in cahoots with Dr. Madan and got more into it so that when I would have something weird come up, she could effectively guide me on which way to go,” said Jeff. “That’s one thing with people in the medical field, they see people suffering and they take a deep dive into the trouble they’re going through and try to help however they can. But nurses, certain specialists, PCPs, they might not understand the totality of a specific disease. But a geneticist does. A genetic counselor does. They have an overview of everything. Not just one specialty, but everything. I know because of [Leslie’s] compassion towards me, that she has an intimate understanding of how all these things affect me.”
And lastly, Jeff talked about the idea of legacy regarding the genetic counselors.
“The legacy of Dr. Madan-Khertarpal and Leslie validating these things and taking the plunge to learn more is that they’ve truly helped me to continue to live as much of a quality life as I can,” said Jeff. “I believe the average lifespan for someone with my diagnosis is 30s-40s. I’m now 60. But more than that, my diagnosis now has a name. Some relatives that I’ve suspected may suffer from the same syndrome were more willing to get checked once we knew what this was. They were able to get tested and diagnosed and it extends to other people in family. In this way, Leslie and Dr. Madan-Khertarpal have a legacy in my own family as they have greatly helped empower my family to face these physical issues.”
Jeff is now going on nine years working closely with Dr. Madan-Khertarpal and five years with Leslie. He sees Dr. Madan-Khertarpal and Leslie at least once a year in the office, but they talk about four or five times a year. She checks in to see how he is doing, and he will let her know if there are any new developments or changes to his symptoms.
Jeff talked about how, dealing with these syndromes most of his life, he has seen the field of genetics change drastically.
“Today, genetic counselors are taken much more seriously," said Jeff. “The Human Genome Project in the early 2000s was a huge game changer. It shed some light on what was going on in the world of genomics. I think it’s possible that because of genetic testing, we could find a cure to some of these diseases.”
Through all his trials and tribulations, Jeff says his genetics team was such a comfort to him.
“Each year has a lot of different challenges,” says Jeff. “But it gave me a lot of comfort knowing that Leslie was in my corner. My family and the people in my church have been incredible, helping me do things. It’s been a great blessing.”