Motherhood | Williams Syndrome Smile

On May 4, I was doing a breast self-exam, something the American Cancer Society unbelievably no longer recommends (See bullet point 5: American Cancer Society Recommendations). I was performing a self-exam because 10 years ago, my good friend found a lump which was diagnosed as breast cancer, and she had been a vocal advocate of doing these exams every month.

Since having kids, my breasts had become very dense, so I was used to feeling benign lumps. But on May 4, I felt a lump that stopped me in my tracks. My first thought was, “This is what cancer feels like.” It was hard, painful, smooth, perfectly round, and movable. It felt like a marble. But when I Googled the symptoms, mine didn’t match those of breast cancer. Breast cancer is typically not painful, oddly shaped, and doesn’t move. However, I did my due diligence and went to my gynecologist the next week. She felt the lump and said, “I think you pulled a muscle. I’m not concerned.” To which I responded, “We have muscles in our breasts?” And she replied, “Yup!” (I’ve come to find out this isn’t true…yikes.) She handed me a prescription for an ultrasound simply to put my mind at ease but assured me it was nothing as I walked out the door.

I’m a mom of 3 with little time on my hands, and I had just been assured that the lump was nothing, so I promptly put the ultrasound prescription on my desk…where it got buried under a mound of papers.

Weeks passed with the prescription gathering dust, until one morning when I had breakfast with a close friend who had come to town. My friend mentioned that she had a cyst in her breast, and I responded that I probably had the same. I told her my story but said that I was very busy and would wait on the ultrasound. (Charlotte was having surgery around this time because she had a birthmark on her scalp that was possibly precancerous, so the bulk of my attention was focused on getting through that surgery.)

To my friend’s credit, she put her foot down. She said she had heard of too many stories in which a woman said, “I’m sure it’s nothing,” and it turned out to be something. But I was only 39 years old! Surely that couldn’t happen to me.

However my friend ended up saving my life by putting that nugget of information into my head. When I got home from our breakfast, I rustled through the papers on my desk and dug out the prescription. I then set to work on scheduling an ultrasound.

After an ultrasound, a 2D mammogram, a 3D mammogram, and a biopsy, I got a shocking phone call. A radiologist told me that, indeed, I had breast cancer. The reason I say that my friend saved my life is that my cancer was aggressive and fast moving. It was growing all over my breast. Had I put off the ultrasound, like I intended, I would have been in a much different place when my treatment began. I will FOREVER be grateful to my friend for pushing me to get the ultrasound.

Of course, I went through every emotion you can imagine. Name a feeling, and I had it. But the one that kept cropping up for me was actually regarding Emmy!

Up until the breast cancer phone call, the most shocking call I had ever received was from the geneticist who told me that my daughter has Williams syndrome. So I couldn’t get over the fact that I felt like we already had our *thing*. You know how they say that every family has a thing? Williams syndrome was our thing!! I couldn’t understand why we had another *thing*. And a major one at that!

I quickly searched online to find some people to talk to. One woman was a breast cancer survivor who did yoga. Turns out she had another *thing* in addition to cancer. And the more I searched, the more people had lots of *things* in their lives.

So, yes, life is hard. But I sure do love living it! Therefore, I did everything I needed to do to rid my body of cancer. I had a double mastectomy, an 8 hour surgery which was followed by a rough recovery. I then had another minor surgery to put a port in my chest. I had 4 rounds of heavy chemo, which were infused through the port. My hair fell out. I then started a lighter version of chemo, which I will be on through August 2019. I did months of physical therapy to try and get my arms working again. I had another surgery last week to finish the reconstruction of my breasts. And some time early next year, I will start taking a pill that I’ll continue to take for 10 years.

Everyone asks how the kids are doing, and the truth is that they’re ok right now. My parents have been an enormous help, so they were able to keep the kids’ schedules on track. They didn’t miss one day of gymnastics, karate, voice lessons, etc. The people in our town have also been amazing and sent us food, brought our kids on playdates, and checked in to see how we were holding up. And, finally, Dan has been BEYOND BEYOND BEYOND wonderful. He did everything on the home front, while managing a full-time job.

It’s been an exhausting few months for everyone, but I’m actually starting to feel better…finally! I’m still quite bald, which stinks. One day I’ll write about losing my hair, which was more upsetting than I thought it would be. I didn’t realize I was so attached to my curls…

I can’t believe I have to add another category to my blog: Breast Cancer. This was intended to be a blog about Williams syndrome and Emmy’s amazing smile! We’ve had some ebbs and flows in the past 7 years, I guess…

While the diagnosis of Williams syndrome sounded scary at first, Emmy has brought SO much joy into our lives BECAUSE she has Williams syndrome. And I’ve loved connecting with other families who share the bond of Williams syndrome. Even though Williams syndrome was a complete surprise, it ended up being a great surprise.

When I first got diagnosed with breast cancer, I kept wishing that it would also turn into a great surprise. So far, I don’t think so…

However, I will say that I met many wonderful people, whom I would not have met if I didn’t get this diagnosis. And I was incredibly touched by the outpouring of support from family, friends, and the people in our town. I feel bad that my kids had to watch their mom go through this, but I also think they learned a lot about resilience — and about what really matters in life.

So there we go. 39 years old and diagnosed with breast cancer. As my friend always says: Ladies, check your girls! Even if the American Cancer Society no longer recommends self exams, I recommend it. If I hadn’t checked myself, I wouldn’t have found my tumor until months later at my 40 year old mammogram, and my already aggressive breast cancer would surely have spread.

The best day to check yourself is…today! 🙂

Right now, I need to wear flip flops. I REALLY need to wear flip flops. Every year I feel the heaviness of winter and swear I’m going to move somewhere warm. I’m cold all the time anyway, so winter is a double whammy. Of course, the kids are excited about playing in the snow and drinking hot chocolate. But I want to pull the covers over my head and hibernate…

As we move from winter to spring, I’m thinking about how many things have changed over the past few years. Charlotte is 8 years old and has really grown into the big sister role. She looks out for Emmy and Theo, and she especially loves playing “teacher” to anyone who will allow it. (When Charlotte gets out her whiteboard and math worksheets on a Saturday morning, Emmy now runs the other direction. But Theo is still game.)

Charlotte has become very curious about what it means to have a disability, and she’s been vocal about the fact that we should embrace people with disabilities. Last year, she wasn’t saying the word “disability.” This year, I hear it a lot. But she doesn’t see it as a bad thing. She sees opportunities to appreciate the differences in everyone. Sometimes I worry that she’s become TOO obsessed with the idea of her sister having a disability and focuses on it too much…but then I think this is just a phase as she learns what it means to have a sibling with Williams syndrome. Charlotte is interested in everything under the sun — sports, acting, voice lessons, piano, art, gymnastics… I’m trying to narrow down the activities to our top 2, though I once read an article that kids don’t find their true interests until they’re in eighth grade. So right now, we’re still swept up in the wave of…everything.

Theo is the dutiful little brother. He seems to still enjoy being the “baby” of the family, even though he’s 3 years old. I think I cater to that a little bit because I know we won’t have any more kids, so I’m snuggling up the last of those baby feelings. Theo is active! I have a tough time keeping up with his energy. He adores Charlotte and Emmy, though all 3 kids have started fighting recently, which is torture to listen to. But, usually, Theo loves having fun with his sisters. He’s always, always thinking about them when they’re at school. He says things like, “Oh! That’s Emmy’s favorite color!” or “Charlotte likes that toy!” He brings a lot of liveliness and laughter into the family.

Emmy is truly a pleasure at 6 years old. Sometimes parents whose children are newly diagnosed find my blog and send me a worried email, and I swear they think I’m bonkers because I always sound so positive about Williams syndrome. They must think I’m living in La La Land. That’s certainly how I felt when Emmy was first diagnosed and I talked to a parent whose child had been living with Williams syndrome for years. The mom was enthusiastic and…dare I say…happy about Williams syndrome, while I felt as though my world was falling down around me. I couldn’t figure out how that parent was okay with the diagnosis and just assumed she was either on “happy pills” or fooling herself.

But here I am today, and I am completely 100% okay with the diagnosis. Emmy wouldn’t be who she is if she didn’t have Williams syndrome, and she is such a delight. The other day, I took Theo to the library, and the librarian came up to me and said, “I have to tell you something. Your daughter is such a doll. My week doesn’t start until I see her.” I hear that a lot about Emmy. She is a very kind and sweet person. Emmy always wants to know how other people are feeling. She is very sensitive. My aunt Eva died last May, and Emmy still brings her up several times a week because she misses her so much.

I also love that Emmy has brought interests into my life that I wouldn’t otherwise have. She is strangely obsessed with everything Halloween and spooky, which is so funny because her favorite color is pink, and she loves to wear dresses and makeup (!!) and is so GIRLIE. But (and this has been going on for a couple years…) she loves vampires, and skeletons, and ghosts, and zombies. I was never much of a fan of Halloween. I could take it or leave it. Now I see a pumpkin in February, and I drop everything. “Where’s Emmy??? I have to show Emmy this pumpkin!” We’ve been to multiple Zombie Walks, something I never thought I would do. And she recently went to a birthday party at a monster glow-in-the-dark mini-golf place, which brought a huge smile to her face. It doesn’t get much better than that! To see her excited about the monsters made ME so happy. I love that she has interests that are unique. I see the world so differently through her eyes, and that makes life more fun.

Of course we have challenges, and nothing is perfect by any means. But that applies to everyone. As I always tell Charlotte, “If I wanted perfection, I would’ve had a robot instead of a child.” (It makes sense in the moment…) My children are so different and, while one child may be the easiest on Monday, he or she is my most challenging on a Tuesday. It really depends on the ebb and flow of life and whatever is going on with them.

So this is us…today.

Williams Syndrome Smile

How one smile changed many lives–for the better

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