Why Our 'Rare' Family Took the Road Less Traveled

Myrtle Beach, South Carolina and the Embassy Suites at Kingston Plantation will always hold bittersweet memories for our family. Even before we were married, my husband and I would attend medical and dental meetings at the beautiful oceanfront oasis, enjoying romantic candlelight dinners and soaking up every precious second of our time away from the purse strings of life.

After marriage, we introduced our beautiful baby boy, David, to our seaside retreat. He attended every meeting, quickly showing his affinity for the sand between his toes. It was just after his fourth birthday that our world would be forever changed. It was a beautiful bright sunny day in mid-May. We were packing our bags to attend the annual North Carolina Dental Society Meeting in Myrtle Beach, just as we had done every year. We received a call from the geneticist at Duke stating that our son’s test results were finally back, and she wanted to set up an appointment in a few weeks to go over the results. Of course, no parent wants to wait weeks to hear the results of such important test results, so we told her we were on the way. Our minds racing with angst and anticipation as we jumped in the car and rushed to Duke.

I have dealt with a lot of devastating news and events in my life, such as the loss of both of my parents, but nothing will ever compare to the heartache we felt that day. We were told our precious 4-year-old son had a rare genetic syndrome called Bardet-Biedl syndrome (BBS). This syndrome affects about one in 150,000 people in the world. The geneticist said he would most likely be blind by the time he was a teenager, and may end up needing a kidney transplant. She offered very little hope and sent us on our way.

Feeling like we were blindsided by a freight train, and barely able to see through our tears, we decided to continue on to our conference at Myrtle Beach. I probably slept an hour that first night. When I awoke, I remember asking my husband if it had all been just a horrible dream.
We took David down to the baby pool that day, letting him splash and play, while our minds rambled with frantic questions about his future.

Would he be blind one day?

Would he succumb to kidney failure?

Would he be able to play like other children?

Would he ever even be able to do something as simple as independently sliding down that big water slide at the splash park?

Would he be able to attend college?

The list was endless. As we watched him in that baby pool, we were overcome with grief.

Eight years later, we are back at Kingston Plantation at our yearly dental conference. As I sat watching David these past few days, I am in awe of how far that this awesome little boy has progressed since that day at the baby pool. If you were watching him by the splash park, you would most likely think he was just like any other kid, enjoying life. He was skipping, splashing and sliding independently down the waterslides without a care in the world.

Getting to this point has been no small feat.

You see, children with BBS and autism do not get to take the “easy road” in life. Almost everything is a challenge for them. Whether it be writing their name, going to the bathroom, or even siding down a waterslide. David’s progress is due largely in part to our village of great teachers, teacher’s assistants, speech therapists, occupational therapists, applied behavioral analysis (ABA) therapists, and caring sitters who all have played such important roles in his life.

We have also reflected on how far we have come as parents since the day of his grim diagnosis eight years ago. Back then we were alone and depressed, with basically no hope for David’s future. But through research, we found the Marshfield Clinic and the BBS Center of Excellence in Wisconsin. There we received the guidance and professional care and support we desperately needed.

Now I am traveling to Washington DC as a rare disease advocate, speaking with our politicians on behalf of rare disease patients. I am attending rare disease conferences and lobbying for David and others who do not have a voice. My husband and I are moderating a telephone support group for BBS parents that reaches people on every continent. These are huge accomplishments for two people who were knocked down with grief eight years ago.

David’s road and our road with him will continue to be the road less traveled. We will continue to celebrate his victories — however big or small — along the way. We will continue to live every day with hope for his future.

In the words of Robert Frost, “Two roads diverged in a wood and I — I took the one less traveled by, and that has made all the difference.”

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