The first thing you notice about 7-year old Anna Morano is that she suffers from no shortage of personality. The blonde-haired 1st grader from St. Patrick School may be petite, but she knows how to command attention and isn’t shy standing before a crowd. In addition to taking the stage for dance and theater, Anna was the 2016 Danish Festival Princess and one of the 2017 Miss Washtenaw County Princesses.
Juliana Morano, Anna’s mom, uses the words smart, stubborn and sassy to describe her youngest daughter. She’s brave too. That’s because if you take a closer look at Anna, you might notice the cleft in her lip. Cleft lips and palettes aren’t uncommon – it’s the fourth most common birth defect in the United States – but for Anna it indicates a deeper problem.
Anna has ectrodactyly-ectodermal dysplasia-clefting syndrome, a rare genetic disease known as EEC. For Morano, getting Anna’s diagnosis helped answer many of her questions. However, the area mom says it’s also a struggle to have a child with a condition no one has heard about. “It’s scary,” she says. “It’s isolating.”
To help other parents who may be faced with similar circumstances, Morano is participating in a panel discussion to be held this Wednesday, February 28, at Helen DeVos Children’s Hospital. It’s scheduled to coincide with the annual observance of Rare Disease Day.
Rare Disease Day Panel: Providing a Forum for Parents
The Rare Disease Day Panel is being organized by Dr. Caleb Bupp, a medical geneticist with Spectrum Health. “Our heart in all of this has been the patients and their families,” he says.
Bupp wanted to provide a place where parents raising children with rare diseases could find support and common ground. He notes that even though rare diseases differ, the journey families find themselves on is often very similar. There may be little formal support for those with rare diseases, and people often have to resort to social media or online forums to connect with others who can relate to their struggles.
“As a parent, you try to go and get good information and your doctor might not be helpful and your social worker may not be helpful,” Morano says is the experience of many people. Navigating uncharted medical territory can be overwhelming, and the Rare Disease Day panel discussion at Helen DeVos Children’s Hospital is intended to provide families a lifeline. “The whole point is you are not alone,” Morano says.
In addition to Morano, three other parents will be on-hand to share their experiences and answer questions from those in attendance. “Just to have another mom or dad say, I know what that’s like,” Bupp says is important. The panel will let families connect on precisely that level.
More About Rare Diseases and EEC
Technically, a rare disease is defined as one in which fewer than 200,000 people have the condition at any given time. However, Bupp says practically speaking, a rare disease fits the definition of “a medical condition where your friends, your family, your health care provider says, I’ve never hear of that before.”
On their own, each rare disease touches only a small number of people. However, together, they represent a significant portion of the population. “If you took everyone who had a rare disease and put them in one country, they would be the third largest country in the world,” Bupp says.
As for EEC, it is a mutation of the TP63 gene. It can manifest itself in a variety of ways, including clefts, webbing on hands and feet and abnormal development of teeth, ears, eyes and nails among other things. For Anna, it has meant multiple surgeries on her tear ducts and ear drums. She is prone to overheating, receives speech therapy and may need help with fine motor skills as she gets older.
Morano discovered she had EEC Syndrome herself about a year ago. Although born with a cleft, she was told it was a recessive gene and thought maybe it was related to chemicals her father was exposed to while serving in the Vietnam War. However, once Anna’s condition was confirmed, Morano was tested and also found to have the syndrome.
That’s one reason to spread awareness of rare diseases. Many people may not realize their health conditions have a name or a deeper cause. Plus, research on rare diseases could have applications far beyond the small population affected by the condition.
“Rare diseases are often springboards to understanding more common conditions,” Bupp says. Some diseases cause people to age prematurely or gain weight. Understanding those diseases could provide a key to treating other issues such as obesity or age-related maladies.
Support from Lowell Area Schools
While you might imagine it could be difficult to receive services for a rare condition, Morano has nothing but praise for Lowell Area Schools. As a student at St. Patrick School, Anna is eligible for special education services through the Lowell school district.
“It has been the easiest process,” Morano says. “Every person I’ve been in contact with in Lowell schools loves their job and genuinely wants your child to succeed.” She says that hasn’t always been the experience of families seeking services for children with rare diseases.
Right now, Anna receives speech therapy, but Morano says district staff have made it clear the door is always open to other therapies that may be needed as she moves into more advanced grades.
Attend the Rare Disease Day Event
The Rare Disease Day panel discussion will be held on Wednesday, February 28, from 10-11am in the cafeteria at the Helen DeVos Children’s Hospital. Bupp notes that February 28 has long been designated as Rare Disease Day since it is considered the rarest day of the year.
You can register in advance for the event, but it’s not necessary to do so in order to attend. For those who cannot make it, the discussion is expected to be live streamed as well. In addition to those touched personally by a rare disease, social workers, health care providers and organizations working with children may find the panel discussion beneficial.
“Every person, every child has a value in the world,” Morano says. “I think being unique is wonderful.” And this local mom is hoping others will attend the Rare Disease Day panel to celebrate that while also supporting parents as they walk where few have gone before.