Imagine being one of only two or three hundred people in the entire world with your diagnosis.
Imagine being that one before knowing there was a name for what made you different.
Imagine being on the receiving end of that diagnosis in 1987 when there was no Internet to run to for answers.
Imagine being the one to tell your dad and sister there was a name for all those little things that made the three of you a bit different.
That’s what happened to Paul Grant, the first male adult ever diagnosed with LEOPARD Syndrome, and father to one of the only two to three hundred people on Earth living with this genetic disorder. “I was in the Navy,” recalls Paul, “and I had enlisted and gone through my physical. During PT, I started having chest pains in the mornings, and the company commander sent me to sick call.” The base doctor referred Paul to a local dermatologist after seeing some pigmentation abnormalities, called lentigines, on his skin.
“Doctor walks in,” Paul recalls, “and as soon as he walks in he says, ‘I know what you have, and it’s called LEOPARD Syndrome.’ I was the first adult male diagnosed with it. It’s usually a pediatric diagnosis. Prior to my diagnosis, there were 25 cases in medical history.”
So, what is LEOPARD Syndrome?
First, it’s important to note that things have changed since 1988. “There’s a nomenclature change. It’s now being called Noonan Syndrome with Multiple Lentigines,” explains Paul, now 43 and a married father of two girls, one of whom, Emma (8), also has Noonan Syndrome with Multiple Lentigines, commonly abbreviated NSwML. In addition to the name change (which refers to the work of Dr. Jaclyn Noonan, whom Paul has had the opportunity to meet) advances in genetic testing, diagnostics, medical science, and the power of the Internet have enabled doctors around the world to identify more people with Noonan Syndrome with Multiple Lentigines, although the estimates still put the worldwide occurrence at under 300 patients.
Despite the name change, the basic hallmarks of LEOPARD Syndrome are best explained using the “LEOPARD” acronym:
E: ECG Conduction Abnormalities
O: Ocular Hypertelorism
P: Pulmonic Stenosis
A: Abnormal Genitalia
R: Retardation of Growth
D: Sensorineural Deafness
Additionally, according to the National Center for Biotechnology Information (NCBI), a division of the National Institute of Health, “Multiple lentigines present as dispersed flat, black-brown macules, mostly on the face, neck and upper part of the trunk with sparing of the mucosa. In general, lentigines do not appear until age four to five years but then increase to the thousands by puberty. Some individuals with LS do not exhibit lentigines. Approximately 85% of affected individuals have heart defects, including hypertrophic cardiomyopathy (HCM) (typically appearing during infancy and sometimes progressive) and pulmonary valve stenosis. Postnatal growth retardation resulting in short stature occurs in fewer than 50% of affected persons. Sensorineural hearing deficits, present in approximately 20%, are poorly characterized. Intellectual disability, typically mild, is observed in approximately 30% of persons with LS.”
Ok, so what does that all mean?
For Paul, it means that when he and his wife, Sherrie, 42, had their first child, Emma, they needed to do a lot more than make the typical pediatrician visits. Paul knew that Noonan Syndrome with Multiple Lentigines presents a bit differently in each patient, as he could see first hand by looking at the differences between himself and his father and sister, both of whom were diagnosed after Paul. The best way to test Emma as early and definitively as possible was to have her undergo genetics testing, which is how, at just two months old, Emma was diagnosed with Noonan Syndrome with Multiple Lentigines.
Explains Paul, “LEOPARD syndrome is a huge variant from patient to patient. Some folks think it worsens. Having seen it in three generations in my family, I think it waxes and wanes. Emma has a worse version than I do, and my father had a worse version than I do. My sister has a lesser involvement.”
NSwML is more than a diagnosis, though. It’s a lifelong challenge that requires vigilant parenting. Paul explains that there are a lot of risks, including global organ collapse. “There’s a lot more diagnoses of [Noonan’s and related syndromes now that there is genetic testing available], but we’re thinking how many of these children were never diagnosed because they died before their first birthday, [which happened] because they were never diagnosed,” says Paul. “Emma, we had her tested almost immediately. She had some cardiac issues right off the jump. We were always constantly watching that. When she was confirmed with hypertrophic cardiomyopathy, we went to Cincinnati to see doctors who had seen LEOPARD Syndrome kids and knew what hypertrophic cardiomyopathy looked like in kids with LEOPARD Syndrome.”
That first trip to Cincinnati was the beginning of a lifetime of advocacy work for Paul and Sherrie, whose younger daughter, Erin (6), is also one of Emma’s biggest supporters. “Erin is negative for it,” says Sherrie. “In terms of support of her big sister, she has been amazing. Emma is very bright and she is not emotionally or mentally delayed in any way, which we are very grateful for. But things do sometimes get overwhelming for her. Yes, she’s a fierce advocate with doctors, but when you have to take a growth hormone shot every night, sometimes it can be too much.” She adds with pride that when Emma has her nightly hormone therapy shots, “Erin says to her big sister, Emma, ‘I’m giving you all my braveness.’”
Sherrie recalls, “For the longest time, Emma was stalled at about two feet tall, and Erin had passed her and was two or three inches taller than her.” Then Paul and Sherrie made the decision to put Emma on growth hormone therapy. “And then suddenly, we’re walking in Wal-Mart,” says Sherrie, “and we noticed that Emma was taller. When we went home and measured the girls, Emma and Erin were both jumping up and down in excitement.”
Sherrie adds, “For two years there, she quit growing. I couldn’t get her above forty pounds for nothing. Every kid in her class was taller than her and bigger than her, and it was starting to become noticeable to her.”
“Having grown up with retarded growth, in terms of hormone therapy, I understand there’s a lot of controversy and it being used as a performance-enhancing drug,” says Paul. “HGH has gotten a lot of bad press, but in our kids, it’s a hormone that our bodies either don’t make or don’t process properly. It’s not as fatal or dangerous as insulin in a diabetic, but it’s the same thing. It’s something we should be producing and we’re not. We develop lot of thyroid issues and osteoporosis. There’s a lot of other things, other than being short, that are the result of growth hormone insufficiency.”
Paul continues, “If we get her height to where her body would have been without the disease I gave her, we’re fine. That’s the goal. If she’s her mother’s height and she’s healthy, that’s the goal. For us, if it were about having super kids, we’d have Erin on it, and we don’t. We have this argument with people who think we’re doing this to make her taller.”
A Better Life With Noonan Syndrome with Multiple Lentigines
Paul grew up bullied and left out due to his short stature and skin pigmentation abnormalities, and he and Sherrie are determined not to let that happen to Emma or any other child with Noonan Syndrome. That’s why they consistently participate in clinical studies to help aid advances in medical science. “We’ve just borrowed our genetic material. We don’t own it. If a doctor needs it to study,” says Paul, “we give it.” Additionally, Paul and Sherrie advocate not just for Emma in the schools, but also for safety for all kids. They’ve been particularly involved in getting their county’s schools to institute an AED program at all locations.
On a personal level, Paul and Sherrie make sure Emma never goes anywhere without her Lauren’s Hope medical ID bracelet. “Looking at the normal, medical alert bracelets, they weren’t cute,” says Sherrie. “She’s a little girl. I wanted her to have something that she wanted to wear. I saw the Lauren’s Hope bracelets, and I asked her if she would wear that, and we had an amazing time going through them all. She wanted them all, and she shows them to people now and says, ‘I got it at Lauren’s Hope!’ The fact that she wants to wear them and show them off and doesn’t mind wearing them, that’s what I love.
Sherrie continues, “I tell people about Lauren’s Hope all the time. I think they are just the cutest little things in the world. Even just with the tag part -- the fact that we didn’t have to just get the silver and red. She has the silver and pink and the purple with the silver emblem. I love everything about them, what can I say? I could start a collection. I could get something to go with every outfit. I wouldn’t even mind having a caregiver one. I would wear it.”
In addition to being an incredible brand ambassador for Lauren’s Hope, Sherrie is quite involved in social networking to connect with other Noonan families, while Paul focuses his advocacy efforts more on the technical side, contributing heavily, for example, to the Wikipedia entry for LEOPARD Syndrome, including sharing family photos and his own research. “We like to spend our energy supporting advocacy in the community at large,” explains Paul. “I lived twenty years and never knew anyone outside my family who had it. Not having that other voice to say, ‘That’s exactly what I have,’ that was difficult for me, and we don’t want that for Emma. We don’t want that for any child. That’s one of the things we want to spend our energy on: making sure that doesn’t happen to any child.”
That’s why Paul and Sherrie are working hard to raise funds to attend a medical conference in Orlando this summer. It will cost the family $4,000, but the Grants consider that money well spent. Not only will they have the chance to hear presentations by, meet with, and even possibly have Emma seen by, some of the country’s foremost experts, but they’ll also have the chance to let their daughter meet other kids with Noonan Syndrome face to face.
To learn more about the Grant family and their fundraising efforts, you can visit their Funding Jar site. If you’d like to help, you can make a donation, or share this blog with your own social media network to help raise awareness and spread the word!
Paul, Sherrie, Emma, and Erin at home.
Says Paul, “Emma sets her own limits. [When she was three], she wanted to take a martial art. Sherrie found a Tae Kwon Do studio here in Louisville. I got dragged out onto the mat. And a lot of times, people said, ‘So you got your daughter into it,’ and I would say, ‘No no no no, she got me involved!’ We let her set her own limits. We don’t say no unless it’s something that’s ridiculous like bungee jumping.” At age 6, Emma earned her temporary Black Belt.
With Noonan Syndrome, explains Sherrie, “When you take your child into the emergency room, most ER doctors are trained to know that if they hear hoofbeats they look for horses. But with Emma you have to look for zebras and sometimes an extinct animal called a quagga.”