My Life With Stickler Syndrome - Part 1: I'm A Mutant
I’m a mutant like the Ninja Turtles or the X-Men. At least, that’s how I explain things to little kids. You see, I have a genetic connective tissue disorder called Stickler Syndrome.
Stickler Syndrome is caused by a mutation in certain collagen proteins. There are currently six known variants of Stickler Syndrome associated with the following genes: COL2A1, COL11A1, COL11A2, COL9A1, and COL9A2. It can cause eye issues, hypermobility, flat facial features, cleft palates, Pierre Robin sequence, small jaws, joint issues, frequent ear infections and hearing problems.
According to the Cleveland Clinic, “Stickler Syndrome occurs in roughly 1 to 3 out of 7,500 to 10,000 newborns.” Stickler Syndrome is thought to be the most common connective tissue disorder in America and Europe, but most people who have it go undiagnosed. Many people have mild or no symptoms. Those of us that do go to different doctors for different things like eye issues, joint pain, hearing loss, tongue ties, etc. are rarely diagnosed because the doctors usually only address the specific concern they specialize in and don’t consider how different things might be related. Therefore, the diagnosis rate is low, thus leading to an inaccurate estimate of just how many people are living with this condition. Many people with Stickler Syndrome have no idea they have it.
My primary issues are with my eyes. I have one lazy eye, which kids immediately notice. Kids will say things adults won’t so I know adults have the same thoughts when meeting me. Oftentimes kids will ask me why my eye is like that, which leads to me using the mutant analogy to help them understand.
I tell them that I have a mutation, or spelling mistake, in my DNA, which is the code that makes us who we are. This mutation causes my eyes to work (or not work) differently than most people. I explain that my eye doesn’t really work, which is why it looks like that. Sometimes that’s all it takes and they move on with whatever they were doing. Sometimes they remain wary and a bit scared of me. I get it, but I can’t lie and say it doesn’t hurt. It’s really hard going through life knowing that something physical about you that you can’t control can be scary or off-putting to people.
I have always had bad eyes, but I didn’t know the cause. My dad has the same issues, but for years doctors told us it wasn’t genetic. They said it was just a weird coincidence that we both had the same problems. I was thirty-eight years old, and he was sixty-two, before we finally found out what the cause of our problems was. Unfortunately, it took one of my kids going through the same thing at the age of 2 before we finally uncovered the truth.
I’d like to share my words from when we found out, almost 10 years ago exactly, about Stickler Syndrome. As you can see, there were three known variants at the time and now there are six.
November 14, 2016
Answers. We finally have some answers.
I want to thank everyone who has reached out over the past months to check on Deanie bear. He has been on quite a ride this year and we truly appreciate all of your thoughts and prayers.
As most of you know, in January we discovered that my poor baby had a complete tear and severe retinal detachment in his right eye. That led to numerous trips to Boston, two surgeries to try and repair the retina - the first of which was successful, but the second time was not unfortunately. He has also had two more procedures under anesthesia, including preventive laser surgery on his left eye to try and prevent a tear/detachment from happening. He endured 7 straight months of eye drops, lots of exams, 4 hospital visits, and one emergency trip to Boston after his first surgery. He had to lay face down several times a day after his first surgery. That is ridiculously hard for a two year old. He has missed out on birthday parties and other events because he was either recovering from surgery or unable to participate in bouncy house type things. He was only 2 when this all started and he has handled it amazingly well.
We have wondered for YEARS what has caused the severe myopia (near sightedness) and retinal detachments in some members of my family. When we decided to switch to a pediatric retina specialist at Mass Eye & Ear after Dean's initial specialist retired, we were sent to Mass General Hospital for some genetic testing. Last week we got answers - a month earlier than we expected!
Dean has been diagnosed with Stickler Syndrome (hereditary progressive arthro-ophthalmopathy). In a nutshell, "Stickler syndrome is a group of hereditary conditions characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. These signs and symptoms vary widely among affected individuals. A characteristic feature of Stickler syndrome is a somewhat flattened facial appearance."
It is caused by a mutation in a collagen protein which affects all of the connective tissues in your body. There are three known mutations, but apparently Dean doesn't have one of these. The genetics doctor said that based on the gene that has a mutation, and where the mutation occurs, they are confident it is a variation of Stickler Syndrome that hasn't been officially reported in the literature yet. Each version of Stickler has slightly different effects. We appear to have a version that affects the eyes more than anything else (although we are crazy flexible!).
Most likely my dad and I also have this, and I think little Nathan might as well. Now the whole family is going to go to MGH to get tested. There is no cure right now, but there are treatments and ways to prevent passing it on to future generations. Hopefully with the advances in gene therapy they may be able to help Dean in the future.
If you'd like to learn more about Stickler Syndrome here is a link you can check out. I am still learning and am by no means an expert on it.
Again, thank you all for your kind thoughts and prayers this year. My little buddy has had a rough 2016 but he is still a happy, loving little boy.
After my little guy was diagnosed, my whole family went to get tested. By whole family, I mean EVERYONE. My dad, my 3 sisters, my aunt (dad’s sister), my cousin, and my four kids. We rolled up into the genetics clinic at Mass General like we were gathering for a party. I was pretty sure myself, my dad, and my oldest would all have the same mutation as my little guy. At the time it was still a fairly new diagnosis for us and we were trying to learn as much as we can about it. Turns out I was mostly correct. I thought two of my kids would test positive for the gene mutation, but 3 of them did. All 3 of my boys have Stickler Syndrome. My daughter does not.
Once we got the official diagnosis, I joined a FB support group. I was blown away by how many people had similar stories and experiences. What really weirded me out (in a wow, that’s wild and not in a wow that’s disturbing kind of way) was how similar we all looked. People would post pics of their newly diagnosed kids and they look just like my kids. I was looking through the old Stickler Syndrome website and found pictures of a girl who looks exactly like I did when I was younger. In fact, you can see the exact pictures on the Stickler Syndrome portion of the Marfan website. It’s the picture of the girl who looks like she’s possibly wearing a blue plaid uniform jumper and the little girl in pigtails. I have no idea who these people are so I won't use their photos here. I am adding photos of me for comparison. Let me know in the comments if you think there are similarities or not.
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Below is my introduction to the FB group which includes a brief summary of how we found out about Stickler Syndrome, and how it felt to finally have some answers. I have removed some of the private medical information, but I left in the doctor’s names. The retina specialist who recognized the symptoms is Dr. Mukai at Mass Eye & Ear and the genetics doctor who did the bloodwork is Dr. Goldenberg at Mass General. I share these names in case anyone reading this is looking for help.
My name is Andi (Andrea) and I have lived my whole life not knowing I had Stickler Syndrome. In January of 2016 my then two year old son suffered a severe complete retinal detachment and tear without any warning. One day we noticed his right eye had changed color and thus began a journey decades in the making.
When Dr. Hirose (original surgeon) retired from operating we switched to Dr. Mukai. He immediately mentioned Stickler Syndrome, which I had never heard of. We visited Dr. Goldenberg and did a complete DNA test on my little Deanie bear.
Since then a whole bunch of my family members have been tested. Turns out all three of my sons have it, but thankfully my daughter does not. My father and I also have it.
It's a little weird to be able to put a name to something that we've known was genetic but for a long time were told wasn't. My family seems to be primarily affected with eye issues. My father had 4 retinal detachments, glaucoma, cataracts, etc. I had a retinal detachment at the age of 10, and I've had cryo and two laser surgeries for tears in my "good" eye. My father, myself and my little Dean all only have vision in one eye.
We've always wondered if there were other families like us out there. I'm thankful I found this group.
Since those initial posts, we have been through SO MANY more procedures and surgeries. We’ve learned a lot, and I’ve tried to pass on my knowledge and experience to those just learning about this condition.
In the ten years since we have gotten this diagnosis, I’ve done a bunch of other research and connected with other people with Stickler Syndrome. It’s wild to talk to other people who have had similar experiences and can relate to things you have been through. It’s comforting and validating to find people who understand without needing an explanation. My whole life it was just my dad and I that had these problems. None of my sisters or other relatives did. I was always the odd one out. I’ll share more about my experiences growing up in another article.
In this essay series, I will be sharing my experiences living with Stickler Syndrome, as well as those of being a child and parent of someone with this condition. I will also be interviewing my dad and kids to share their viewpoints as well. I hope to provide information, resources, and comfort to anyone diagnosed with or caring for someone with Stickler Syndrome or related connective tissue disorders. For more information, please visit the links below.
Boston Children’s Hospital
The Cleveland Clinic
The Marfan Foundation
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