About Siena

Our beautiful little Siena was born on September 11, 2012. She is the light of our lives and continues to shine happiness into each and every day. Siena is sweet, lovable, uncontrollably cute, and absolutely loves to laugh and smile.

When Siena was born, doctors immediately began noticing small clues that led them to believe something was different about her. She had minor setbacks upon delivery, but otherwise, she was (and still is) a very healthy baby. While in the hospital the first few days after birth, one of the resident Pediatricians noticed some of Siena's physical features weren't quite normal--high pitched cry (when she even cried), high palate, slightly downward slanting eyes, and folded ears that were placed lower on her head. Her most noticeable trait was her hypotonia, which is low overall muscle tone. Some of the other doctors in the hospital disregarded these worries and thought Siena was just fine.

The doctor who originally noticed these abnormalities recommended we see a genetic counselor to have some tests done. We kept telling ourselves (as did some of Siena's other doctors) that Siena was a normal baby. To be safe, we decided to take Siena to the best hospital around, Children's Hospital Boston (CHB), where we met with several doctors and counselors in the Genetics department. They recommended running some tests on Siena to see if there could be any underlying issues with her beyond these slightly abnormal physical traits. We returned to CHB two weeks later to discuss the results of Siena's genetic testing. We sat in great anticipation as we waited for the geneticist to spill the news. Siena was diagnosed, based on chromosomal testing, with Prader-Willi Syndrome (PWS). Life stood still when we heard this; we didn't know what to think, what to ask, what to even worry about!

There it started: the worry, the endless online research, and talking to as many people as possible to learn about this syndrome. And because PWS has such a large range of outcomes, we try not to worry too much about what she is going to become.



Where we are today
Luckily, we have found some amazing doctors and specialists for Siena. Despite the dozens and dozens of appointments each month, Siena is getting the ultimate care that she needs to be on the path to a truly wonderful life.

She is part of an excellent "Early Intervention" program that provides her with weekly physical therapy, speech therapy, nutrition, and occupational therapy. Siena was finally put on Growth Hormone (GH) to minimize the effects PWS might have on her. Although her feeding issues will forever be a challenge, she has since ditched her feeding tube (she actually pulled it out herself) and is able to drink from the bottle on her own. Her motor skills are good, and her core strength and hypotonia are beginning to improve, thanks to the GH injections and constant therapy.

We are part of a very strong group of PWS families all around the world that talk on a regular basis. They hold multiple conferences annually for parents on updated research, current therapies, and networking. This group has provided us with incredible support and information about Prader-Willi Syndrome--something we couldn't get any where else.

In order to be the best parents for Siena, we can only live in the moment, love her with all of our heart, and do everything we can do provide her the best life possible.