Living with a rare genetic disease like Stickler syndrome (Or “Sticklers”) isn’t a death sentence. If Emily Katharine wants people to know one thing, that’s it: that they are more than their condition. That their life and their best are good enough. In a letter to herself that she wrote for Next Generation Sticklers, she shares:

“What you have been through allows you to see the world in a unique way. You are empathetic and grateful for the small things in life. Although you have a rare form of Sticklers, you have overcome a lot with your willpower and strength. Sticklers is a part of you, and it makes you strong, but it is NOT all that you are. It has been a tough journey, but you have accomplished so much more than you’ll ever know. Never give up on yourself and keep on fighting.”

Her journey to where she is now – a confident, strong force to be reckoned with – wasn’t always easy. In fact, it took a lot of time, effort, encouragement, patience, and lessons along the way. But today, Emily is a fierce advocate for others with her condition. She launched Next Gen Sticklers as a way to unite the community and to share stories. Her goal is to raise awareness and challenge misconceptions.

In her story, Emily explains what Stickler syndrome is, her journey, advocacy and the desire to help others, and advice she’d like to share.

What is Stickler Syndrome?

Stickler syndrome refers to a group of rare genetic connective tissue disorders. It is caused by gene mutations that affect collagen formation. Because Stickler syndrome is inherited in an autosomal dominant pattern, a family history is considered a risk factor. Emily explains:

Stickler syndrome affects an estimated 1 in every 7,500 people. It affects a person’s eyesight, hearing, and joints. There are five different types.

Typically, this condition is diagnosed during infancy or childhood, though it may be diagnosed later in life. For example, Emily received her diagnosis at 14 years old. Symptoms and characteristics of Stickler syndrome can (but do not always) include:

• A cleft palate, small lower jaw, and tongue placed further back than normal (Pierre-Robin sequence)
• Prominent eyes and a small nose
• Nearsightedness
• Cataracts
• Glaucoma 
• Overly flexible joints
• Osteoarthritis
• Hearing loss and/or difficulty hearing high frequencies
• Retinal detachment
• Feeding difficulties
• Difficulty breathing
• Scoliosis (abnormal spinal curvature)
• Back pain

Currently, there is no cure for this disorder. However, treatment options can help manage the various symptoms. 

Emily’s Story

Emily was born as the youngest of three children to her two wonderful parents, who she describes as amazing advocates. 

After Emily was born, when she was still an infant, she underwent soft palate repair. She recovered well and life, as it does, went on. Growing up, she grappled with a number of other potential health impacts: hearing loss, vision problems, difficulty walking and running. She says:

I tried to play soccer, softball, and basketball. But running was always painful for me. I usually played for five minutes and then I was over it. It got worse as the years went on. Even walking a block became extremely painful. In gym class, we had to run the mile. It took me 45 minutes to do half of a lap and I cried in excruciating pain.

On Next Gen Sticklers, she describes her pain: 

Picture a long windy hill in San Francisco. On this hill, there is hot coal and shards of glass that you are running backwards up, carrying dead weight while someone is stabbing you with a very dull knife. That is the pain I felt and lived with every day. It started off gradually and got worse as time went on. Nothing I did would make the pain go away. I wasn’t really living, only existing.

Emily and her family began visiting doctors to see if they could identify what might be the underlying cause of her pain. But no doctor seemed to be able to give her an answer. Stickler syndrome is still rare; back when she was pursuing her initial diagnosis, many people were unaware of what the condition even was. Because of this, Emily says:

No doctor knew how to help me. I was told to just take pain medicine and use a wheelchair until I was old enough for a hip replacement.

Eventually, Emily and her family made a trip to Boston Children’s Hospital. There, she underwent testing – including genetic testing – and finally received her Sticklers diagnosis. 

Join us in Part 2 as we discuss coming to terms with the Stickler syndrome diagnosis, how Emily managed through college (and how she is doing today!), and her thoughts on life with Stickler syndrome.