May is Prader-Willi Syndrome Awareness Month!

May is here (already!) and it's Prader-Willi Awareness month! Get involved!

We are spreading the word about PWS throughout the month of May and trying to get others to do the same. Foundation for Prader Willi Research (FPWR) has created this event in order to spread awareness in creative ways. Read more about how you can participate here--it's easy and fun!

For the month, we'll be giving up WINE, as you know something we can hardly go a day without! It'll be quite the challenge, but if it's in the name of PWS Awareness month, this challenge is on!

Read More

Look at those eyes!

Read More

It's been awhile!

Long time since a post, we found it too difficult to keep up with updating all of her appointments! So, just a quick update on how Siena is doing today.

She no longer has her feeding tube, and is able to (with some challenges) eat all of her food by bottle! Siena is now finally on Growth Hormone (GH) therapy, which has been helping out a great deal with her low muscle tone. She has some work to do with her core strength before she begins sitting on her own, but she's getting there! Her head control is miles better than it was a month ago.


We're hopefully going to start planning a local "One Small Step" walk for this year or early next year. Any ideas you have would help us get going on it!

Read More

Early Intervention Visit

Siena had her third Early Intervention visit today! The Occupational Therapist noticed great improvements in Siena's head control and overall movement. The OT showed us some different exercises to perform: joint compressions and a new way to do "tummy time." She mentioned that another very important thing to do starting at this age is infant massage. She is enlisting the help of a Physical Therapist to start sessions on our next visit to teach us massage techniques.

A nutritionist will also join the group to talk about Siena's feeding habits, calorie intake, and weight check. So far Siena is growing gradually and, even though in the lower percentile of weight, she's doing great! Our OT recommended hooking us up with another family nearby who has a one year old with PWS. We feel this is a great idea! This OT is awesome and is also eager to learn about new findings about PWS. Siena's sleep study is next week--looking forward to it!

Read More

First Endocrine Visit: Growth Hormone Here We Come!

The long awaited appointment with Siena's endocrinologist, Dr. Diane Stafford, of Boston Children's Hospital, finally came today! We were a bit anxious for this meeting for a couple reasons. First, we want to get Siena started with Growth Hormone as soon as possible. Second, we didn't know where this doctor stood on the concept of early application of growth hormone. We hear from many families that they had trouble getting their endocrinologists to buy in to the idea of starting growth hormone. We feel it's a lack of awareness of all the great research findings that are going on right now. Dr. Stafford specializes in Prader Willi Syndrome and currently has about 40 patients with it at the moment, ranging anywhere from 6 months to 21 years. That fact alone made us feel much more comfortable! She's been working with children with PWS for years and has a ton of experience. A wave of relief came over us when she finally dropped the idea of starting growth hormone early! She said she would like to schedule her sleep study right away to get the process started. We couldn't believe it! A sleep study is a test done to find out if Siena has obstructive apnea, which is basically an obstruction in her breathing pathways (something that is not uncommon with PWS). They need to know this before starting the growth hormone. If she does have this, they'll simply need to make adjustments to Siena's plan, using a mask that will create positive pressure in her airways to allow her to breathe easily. The reason it's so important to know this, is that growth hormone can increase the size of the tonsils, creating a bigger risk if there is already some sort of obstruction (the apnea). Once the sleep study is done, and we know where Siena stands on the apnea situation, Dr. Stafford said she'll have the growth hormone in our hands in no time! She also mentioned that we'll get trained at the hospital to administer the shots (supposedly a very small needle similar to an insulin shot) properly. We are VERY exited to get Siena started on this process. They'll be calling us in a week to schedule that visit. Many children don't get to start growth hormone this early, with insurance obstacles, doctor cooperation, etc.. So, we feel blessed to have such a great running start! If there is anyone unhappy with their Endocrine doctor in the Boston area, you HAVE to check out Dr. Stafford--she is amazing!

Read More

First Early Intervention Visit!

Siena had her first appointment with Early Intervention today! Her Occupational Therapist (OT) is wonderful and has years of experience with children that have PWS. This first visit is mainly for Siena's primary evaluation of her motor skills, muscle tone, and social ability. She passed a multitude of tests with flying colors--something we didn't expect! She does have some things to work on, including lower tone in her upper body (specifically with head control and her arms). She took very well to her Boppy pillow during "tummy time." We'll be using this as a way to build her strength in her legs and shoulders in the upcoming weeks. Her OT says this will work wonders if done consistently multiple times a day. We were worried this would make her tired for her feedings, but the OT said she will gain strength and develop an appetite from all the hard work!

Read More