Patient perspectives: Penny Perez
Rebecca Aris interviews Penny Perez
May is Williams syndrome awareness month, so our latest ‘Patient perspective’ interview comes from the mother of a patient with Williams syndrome, Penny Perez.
Penny’s son has a rare disorder known a Williams syndrome. In this Williams syndrome awareness month Penny discusses the syndrome and how the Williams Syndrome Changing Lives Foundation, which she set up, helps the families of those with Williams syndrome.
RA: Penny thank you for taking part in this interview. I understand your son Keith has Williams syndrome, could you please start by telling us about Keith’s syndrome?
PP: Williams syndrome is a rare genetic disorder, caused by the microdeletion of chromosome number seven. So there’s somewhere between 25 and 28 genes that any child with Williams syndrome is missing, specifically the elastin gene.
Williams syndrome is spontaneous, and it affects males and females equally. Williams syndrome does cause multiple medical issues as well as global developmental delays, with the most significant medical issue being cardiac issues. Typically many children are diagnosed at birth if they have the most common cardiac issue, which is SVAS (supravalvular aortic stenosis). Keith does not have that, so Keith was not diagnosed until he was 16 months of age.
We noticed some medical issues, we knew that he had pulmonary stenosis, but it was very mild. But Keith missed a lot of developmental milestones. A geneticist diagnosed him at 16 months with Williams syndrome.
Since his diagnosis we found out that he also has aortic stenosis and renal artery stenosis, and the renal artery stenosis causes significant hypertension in Keith. He is on three different blood pressure medications, and we have to continually manage his blood pressure issues. He does have significant gastrointestinal issues, including gastric reflux, as well as gastroparesis, which is delayed stomach emptying, and that causes him a lot of pain. He’s also on three different medications for that. Keith also has severe anxiety due to the Williams syndrome.
Williams syndrome can cause a whole host of problems, from some that are apparent at birth, and some that come later in life.
As these kids age they’re at a higher risk for diabetes and hearing loss. We have to have ongoing medical monitoring and evaluation for this syndrome.
“Williams syndrome can cause a whole host of problems, from some that are apparent at birth, and some that come later in life.”
RA: Being such a rare condition and with no currently available treatment what options are available to patients with Williams syndrome?
PP: We really just have to manage the symptoms through multiple medical specialists as well as various therapies for their developmental delays. Keith has 10 different medical specialists, and he’s in speech therapy, occupational therapy, and physical therapy.
We’re currently trying to get him into an applied behavioural analysis therapy to help with his cognitive abilities, and his behavioural issues.
As Williams syndrome affects multiple systems in the body, we really just have to manage each symptom through various specialists, which can be quite difficult to coordinate.
RA: Can you tell us about the work that Williams Syndrome Changing Lives Foundation, and what prompted you to set this up?
PP: When Keith was four, we were told that Keith’s arteries were so tiny that at some point his blood pressure and his renal artery stenosis would get to a point where medication would no longer be effective for him, and there would have to be some type of vascular intervention. We were also told that there would be no vascular surgeon that could operate on Keith, and that he probably wouldn’t live past the age of 15. Needless to say, that’s not something a parent ever wants to hear, so I did some research and reached out to various facilities and associations, trying to see what our options were.
A Williams clinic at the children’s hospital at Philadelphia was willing to see Keith. However, our health insurance would not cover that. We had to pay for not only Keith’s travel to Philadelphia but all the medical costs out of pocket. In researching how to get assistance for that I found none, there was no foundation or association that provided any type of assistance for this.
After we visited the children’s hospital at Philadelphia we were told that certainly there were some interventions and there was a vascular surgeon that could perform this surgery and that could help Keith when the time came. But it got me thinking, what do other families do that have this problem? And so that’s why Changing Lives was born, I wanted to start a foundation that specifically helped families get the assistance and the medical treatment that they needed, and provide the financial assistance.
“…I wanted to start a foundation that specifically helped families get the assistance and the medical treatment that they needed…”
RA: How have you been using social media to support the families of patients with Williams syndrome, and to raise awareness in this area?
PP: We have a Facebook page that provides information as well as events, and we also have two support groups on Facebook. We have a support group that’s dedicated solely for parents and care givers, and we also have a support group of Facebook that’s dedicated specifically for fathers and male care givers. They are closed support groups meaning that only individuals in the group can see anything that’s posted.
It allows families to talk about those sensitive issues that can arise with Williams syndrome and parenting a child with special needs. It also offers a safe place to find that support and share their stories, and connect with other parents. Many times we’ll find parents in the support groups that will reach out and say has anyone experienced this? And they get that support.
RA: How can we raise further awareness of Williams syndrome?
PP: I think providing information to healthcare providers and healthcare facilities is absolutely vital, we still find out that many physicians have never heard of Williams syndrome and this puts the parents and the care givers in a situation where they are educating the physicians. They don’t know what they need to know about Williams syndrome, so getting that information out there to healthcare providers and healthcare facilities is just vital.
RA: I know the Williams Syndrome Changing Lives Foundation provides resources, but what further resources would you like to see being made available?
PP: We’d love to see resources for adults to be able to live more independently. Most adults with Williams syndrome live with their parents or with their care giver, and we’d love to see more independent living opportunities as well as employment opportunities as our children reach adulthood. There’s just not a lot of resources out there where our kids have the opportunity to have somewhat of an independent life.
RA: Penny, thank you very much for your time.
PP: You’re quite welcome.
About the interviewee:
Penny Perez is the CEO and Founder of Williams Syndrome Changing Lives Foundation. Her responsibilities include the overall leadership and development of the organization. She reports to, and maintains a seat on the Board of Directors and is the main point of contact for the facilitation of the organizations programs. Her other responsibilities include managing the organization’s financial operating budget, developing relationships locally and nationally, fund raising, creating awareness programs and ultimately facilitating assistance to individuals. She devotes approximately 50 hours a week in her position as both CEO and Treasurer. Penny also serves on the Family Advisory Council for All Children’s Johns Hopkins Hospital in St. Petersburg, Florida.
Williams Syndrome Changing Lives Foundation began in August 2012 as a passion and a focus of Ms. Perez. As a parent of a child with Williams syndrome, she recognized and understood the struggles of parents managing the multiple daily medical, therapeutic, behavioral and developmental needs of children with Williams syndrome. Ms. Perez wanted to help relieve some of the financial burden of others experiencing the same difficulties that she had realized with her son, Keith. For her, it was the beginning of Changing Lives.
You can find out more about the Williams Syndrome Changing Lives Foundation by following the links below, or view our infographic:-
On Twitter:- @wschanginglives
How can we raise awareness of rare diseases such as William syndrome?