Heart problems and vascular issues are very much a part of Williams syndrome. If left untreated, most children with Williams syndrome will never live to adulthood. Back in the early 1960s, they started doing autopsies on every seemingly healthy child that died without any apparent cause. A medical examiner by the name of Williams saw a connection between these children and their cause of death.
Most children with Williams syndrome are born with some type of cardiac or vascular issues, and many of them undergo open-heart surgery before their first birthday. But a few of them seem to escape the heart problems. Such is the case with my daughter, Michelle.
Michelle saw her first cardiologist at 3 months old, although she wasn’t diagnosed with Williams syndrome until 3 1/2 years old. Because of that diagnosis, she saw a cardiologist regularly until she was eight. At that time, the cardiologist gave her a clean bill of health and told us there was no need to pursue cardiology anymore. But eight years later, we were told to get her in with cardiology again. In their Williams syndrome research, they learned that children born without the heart or vascular defects could develop them into adulthood.
So we got Michelle back into cardiology, and she has seen a cardiologist routinely every 2-3 years since then. Last month, Michelle turned 38 years old. She’d seen a cardiologist for a routine evaluation due to her Williams syndrome at least 8 times in the last 20 years. I’d been her legal guardian for 19 years. And for 15 years, due to her behavior and other circumstances, she’d lived in various settings away from home.
Then on January 8, 2021, I brought Michelle home permanently. Four months later, she landed in the hospital because she wasn’t able to keep anything down. For a solid week, the hospital kept her on a liquid diet while they ran test after test after test. X-rays. CT scans. Blood tests. Hyda-scan. (They finally diagnosed her with gastroparesis.)
A year later (April, 2022), Michelle’s doctor was reviewing the results of a recent ultrasound when she asked me about a “mass on her right kidney.”
Mass? What Mass? I didn’t know anything about it. Her doctor promptly put in a referral for Michelle to see a vascular surgeon. The surgeon ordered a high resolution CT scan of her right kidney. The radiologist told me that that growth on her kidney had been marked on her chart originally in 2016. And I was just hearing about it for the first time in May of 2022? Then I wondered why the hospital that diagnosed Michelle with gastroparesis after a week of testing hadn’t said anything to me. They had to have seen it on the imaging.
According to the vascular surgeon, other doctors had been keeping track of its growth, and it didn’t appear to have grown much since 2016. But it was still 4mm in size. Michelle’s vascular doctor wasn’t certain of the best way to handle it, so he consulted with other surgeons in the hospital. Then he called me and said, “That vascular growth is massive and Michelle may lose her kidney. I consulted with the other surgeons on my team and we feel this situation may be more than we can handle, so I’m referring her to UC Hospital. They’re far better equipped to deal with this vascular growth than we are.” So the vascular doctor referred her to a kidney specialist at UC Hospital.
Michelle saw the kidney specialist on November 2nd. He said that he read the report sent to him from the vascular surgeon. Apparently, the blood flow was making a right angle turn directly into the vascular growth on top of her right kidney, instead of circling around into the kidney.
The doctor said if the hole leading into the vascular growth wasn’t too big, they could go in and plug it up with glue. That would reroute the blood flow back to her kidney. But before they do that, they want to do a kidney function test to ensure her kidney’s still functioning. If it isn’t even functioning, they may as well remove it all – the kidney and the vascular growth. He also wanted another CT scan of the kidney. Those two tests were scheduled for November 18th, 2022. After that, Michelle was scheduled to consult with two other doctors for their recommendations on the best surgical plan of attack.
After I talked to the kidney specialist and scheduled all the appointments and finally had time to share what was going on with my husband or good friends, that’s when everything hit me.
1. Michelle’s vascular doctor said she might lose that kidney and his report showed the direction the blood was flowing into the vascular growth. The kidney doctor suggested we do a “kidney function test.” If the vascular growth was thriving on the kidney’s blood supply, Michelle’s kidney may already be dead.
2. Also, that vascular growth apparently hadn’t grown much since 2016, when it first showed up on an image and a medical professional had measured it. So how long had it been there? How long had it been growing? And why didn’t anyone address it?
3. How did cardiology miss it all those years, knowing that heart and vascular issues are very much a part of Williams syndrome, and Michelle has Williams syndrome.