Siena’s Birthday Countdown | Sisters

Birthday Week is here! 5 days to go!

Isla was almost 3 years old when Siena was born and 11 months after Siena was diagnosed with PWS, we found out I was pregnant again. This is hard and feels awful to say, but I cried. I couldn’t imagine adding another baby to our family, as I was already feeling so overwhelmed.

When Lucca was born in October 2012, it couldn’t have been more therapeutic and beautifully timed. No, we had not planned this, but what a brilliantly perfect example of God’s plan… to be given what you need when you don’t even know you need it.

Isla & Lucca are so extremely loving to Siena. They have been included in our annual trips to see Dr. Miller in Florida, listen intently to everything she has to say, and take part in asking and answering questions. They have been to specialist after specialist appointments from neurology to orthopedic, cardiology to GI, these girls know them all. They take great pride in holding Siena’s hand during her growth hormone injections and have even learned how to do the shot themselves (on the days Siena says they can, of course), something even their Papa Greg hasn’t learned to do! (sorry to throw you under the bus Dad) They are always looking out for Siena’s well-being and just last night as we were going to bed Lucca said to me, “Mom, I don’t think Siena is drinking enough water and I have an idea to help her”… BE STILL MY HEART

Now this is not to say there is not complete chaos in our house at any given moment, which I am sure is safe to say every household experiences from time to time….. Frustration does set in some days, especially when Siena gets “stuck” as we call it or perseverates, which is when she gets fixated on one thing and asks the same thing, says the same thing or does the same thing, over and over for an extended period of time. It is especially difficult when this happens at times when we need to be somewhere, and Isla & Lucca have had to be late for swim lessons, dance class or field hockey on numerous occasions. However, there are often times that Isla or Lucca are able to talk to Siena and able to get her “unstuck” in ways that Andy & I cannot and their patience and love astounds us.

Just as we all have our balancing act in life, ours includes making sure we all understand the dangers and beauties of PWS, without letting them control our lives, while making sure EACH of us feels special and loved.

These sisters share qualities with each other that has built incredible character, whether it be courage, strength, patience, or even stubbornness…. they each offer something that makes them all shine. The relationships these THREE sisters have is nothing short of pure magic. And I thank my lucky stars every day that the Universe continues to give me exactly what I need. xo

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Siena’s Birthday Countdown | Growth Hormone

One of the many common symptoms of Prader-Willi Syndrome is growth hormone deficiency. This is believed to be because of the missing or non-working genes on Chromosome 15 and how they effect the function of the hypothalamus, and thus the endocrine system, including but not limited to growth, thyroid and sexual development.

Siena began receiving Growth Hormone Therapy in December 2011 after completing sleep studies and having her adenoids removed because of severe sleep apnea (which is also commonly found in PWS). The photos below are from one of her many sleep studies and our train ride to Philadelphia to learn how to administer her shots and was the first day she received Growth Hormone. She has gotten a shot ALMOST every day since.

I say ALMOST, because although we visit Siena’s endocrinologist, the phenomenal Dr. Jennifer Miller at Shands Children Hospital at the University of Florida every year, and she follows Siena’s growth hormone deficiency through blood tests every three months and prescribes the HGH therapy, it is EXTREMELY difficult to get approved through insurance. I cannot begin to calculate the hours I have spent on the phone with insurance and drug companies to get the growth hormone for Siena. And not all growth hormone is created equally, some have preservatives, some don’t, some come pre-dosed, some don’t, some work well, some don’t. Unfortunately, not all the growth hormone approved by insurance companies are effective. Thankfully there are pharmaceutical companies that offer co-pay assistance programs, especially as you are first starting out on your journey with growth hormone therapy. Without insurance or assistance the therapy could cost upwards of $500/month. There have been 30 day gaps where I have not been able to get Siena her growth hormone, but we are thankful that for the most part she has been able to receive it for the past 9+ years.

Here is a little more info about Growth Hormone Treatment :Growth Hormone treatment was approved by the US Food and Drug Administration for children with PWS in June 2000. Since then, several benefits have been reported, and growth hormone therapy for PWS has become an important step after an initial diagnosis. Human growth hormone is effective not only in increasing height, but also in decreasing body fat, increasing muscle mass, improving weight distribution, increasing stamina, and increasing bone mineral density in PWS. In addition to these positive effects on growth and body composition, studies suggest positive effects on development and behavior. There is mounting evidence that adults with PWS benefit from continued HGH therapy, even after growth is completed.

For more info here is a great read. https://www.pwsausa.org/…/Growth-Hormone-booklet-final.pdf

If you would like to donate to Siena’s Fundraising Page for the Foundation of Prader-Willi Research here is the linkhttp://act.fpwr.org/site/TR?pg=personal&fr_id=1732…

Siena’s Birthday Countdown | Diet + the Belly

I missed a few days in our countdown, so I am doubling up today on topics… these go hand-in-hand anyway…

There are a myriad of diets that PWS families follow and it really comes down to what works for each individual’s needs and what the family can manage. Some do keto, some paleo, some Mediterranean, and the list goes on…

We follow more of the Mediterranean approach with our main goals being to monitor sugar intake, include good complex carbohydrates, lean proteins and good fats AND portion control. We do our best to eat very healthy, but it is not always easy, especially with other children in the family and busy schedules, but we try very hard to stay on track. There are many reasons this is so important, a few of them being that many individuals with PWS experience a slower metabolism, increased risk for insulin resistance and gastric motility complications.

Athough we monitor Siena’s belly like a hawk, she unfortunately has been hospitalized several times because of complications, most recently this past July 2020. The past two times we were alerted by her waking in the middle of the night in pain. It is common for those with PWS to have a very high pain threshold, which is true for Siena, so when this happened it was extremely alarming. We have had many trips to the emergency room and many hospital stays. Sometimes we come home with answers, but more often, we do not.

We have a team of PWS experts and fellow PWS families that walk this journey with us and we do find comfort in knowing that although PWS is rare and our community is small, we are not alone. And we could never do it without the support of our friends and family that help with our kids at a moment’s notice, do hospital “drops” of goodies to brighten our spirits, and are always in Siena’s cheering section.

I could go on and on with this subject, but I will end it here and share a link in case you would like more info. Dr. Scheimann from Johns Hopkins is our go-to GI expert in PWS and she has offered us guidance on many occasions. https://www.pwsausa.org/a-comprehensive-overview-of-gi…/

Attached is a photo journal of Siena’s hospital stay July 2020. If you would like to make a donation to Siena’s FPWR fundraising page, here is the link.http://act.fpwr.org/site/TR?pg=personal&fr_id=1732…xo

Siena’s Birthday Countdown | Hunger

Hyperphagia or the feeling of abnormal, constant hunger is one of the most life-threatening symptoms of Prader-Willi Syndrome. This typically begins to occur when children with PWS are 8-10 years old, but varies for every individual.

Over the years Siena has progressively become more and more fixated on food, but we have not yet seen food seeking behaviors that some of her peers with PWS have experienced. While, as of now, we do not have the need to lock our refrigerator, freezer, pantry or trash can we know many families that must do so to keep their child with PWS safe. The insatiable feeling and obsession with food can lead to obesity, diabetes and intestinal issues that can lead to death.

I cannot say Siena has a constant feeling of hunger at this point, but I can say that food is an obsession for her. She wakes up asking if it is “wake up time” so she can have breakfast. She is very aware of all food around her at ALL times, and food is constantly on her mind. There have been a few times in recent weeks that we have found her with food items we did not say she could have, in areas of the house they should not be. Now, listen. I have two other children, and so I know taking food without asking is not uncommon. But, when you find your child who has PWS with food they snuck out of the pantry, well it is a sinking feeling that is hard to describe other than just pure worry.

Because the symptoms of PWS affect every individual differently and some of these symptoms manifest over time, we must ALWAYS be on top of our game and ready for anything.I came across this article and wanted to share. Thank you for reading and your support. xo https://themighty.com/…/prader-willi-syndrome-what…/…

If you would like to donate to Siena’s fundraising page for the Foundation for Prader-Willi Research here is the link

http://act.fpwr.org/site/TR?pg=personal&fr_id=1732&px=1009083&fbclid=IwAR3awf2x8azeIAIpSr2fogEtICOSsormT2N1ezFnHSayfd3eEQ0hhsYVxpM

SIENA’S BIRTHDAY COUNTDOWN | What is PWS?

Wow. I didn’t quite realize how emotional I would be counting down the days to Siena’s 11th Birthday and the 10th anniversary of Siena’s Prader-Willi Syndrome diagnosis, but here I am… a puddle of tears. Andrew Schoenberger has made a lot of videos for the girls and I thought today I would share Siena’s First Year compilation.

When we first heard the words “Prader-Willi Syndrome” we had no clue what anyone was talking about, and so please know that we completely understand if you have never heard of it either.

Thank you to the The Foundation for Prader-Willi Research for being an amazing resource and offering the following info:

What is Prader-Willi syndrome?Prader-Willi syndrome (PWS) is a genetic disorder that occurs in approximately one out of every 15,000 births. PWS affects males and females with equal frequency and affects all races and ethnicities. PWS is recognized as the most common genetic cause of life-threatening childhood obesity.

PWS was first described by Swiss doctors Andrea Prader, Alexis Labhart, and Heinrich Willi in 1956 based on the clinical characteristics of nine children they examined. The common characteristics defined in the initial report included small hands and feet, abnormal growth and body composition (small stature, very low lean body mass, and early-onset childhood obesity), hypotonia (weak muscles) at birth, insatiable hunger, extreme obesity, and intellectual disability.PWS results from an abnormality of chromosome 15, and definitive diagnosis is now based on genetic testing.

The symptoms of Prader-Willi syndrome are likely due to dysfunction of a portion of the brain called the hypothalamus. The hypothalamus is a small endocrine organ at the base of the brain that plays a crucial role in many bodily functions, including regulating hunger and satiety, body temperature, pain, sleep-wake balance, fluid balance, emotions, and fertility. Although hypothalamic dysfunction is believed to lead to the symptoms of PWS, it is not yet clear how the genetic abnormality causes hypothalamic dysfunction.

The symptoms of PWS change over time in individuals with PWS, and a detailed understanding of the nutritional stages of PWS has been published. Overall, there are two general stages of the symptoms associated with PWS:

Early Life

Infants with PWS are hypotonic or “floppy”, with very low muscle tone. A weak cry and a poor suck reflex are typical. Babies with PWS usually are unable to breastfeed and frequently require tube feeding. These infants may suffer from “failure to thrive” if feeding difficulties are not carefully monitored and treated. As these babies grow older, strength and muscle tone generally improve. Motor milestones are achieved, but are usually delayed. Toddlers typically enter a period where they may begin to gain weight easily, prior to having a heightened interest in food.The symptoms change over time in individuals with PWS.

Childhood and Beyond

An unregulated appetite and easy weight gain characterize the later stages of PWS. These features most commonly begin between ages 3 and 8 years old, but are variable in onset and intensity. Individuals with PWS lack normal hunger and satiety cues. They usually are not able to control their food intake and will overeat if not closely monitored. Food seeking behaviors are very common. In addition, the metabolic rate of persons with PWS is lower than normal. Left untreated, this combination of problems leads to morbid obesity and its many complications.In addition to obesity, a variety of other symptoms can be associated with Prader-Willi syndrome. Individuals usually exhibit cognitive challenges, with measured IQs ranging from low normal to moderate intellectual disability. Those with normal IQs usually exhibit learning disabilities. Other issues may include growth hormone deficiency/short stature, small hands and feet, scoliosis, sleep disturbances with excessive daytime sleepiness, high pain threshold, speech apraxia/dyspraxia, and infertility. Behavioral difficulties may include obsessive-compulsive symptoms, skin picking, and difficulty controlling emotions. Adults with PWS are at increased risk for mental illness. PWS is a spectrum disorder and symptoms vary in severity and occurrence among individuals.

What causes Prader-Willi syndrome? For those of you who love science, and want MORE 😝 you can visit this link https://www.fpwr.org/about-prader-willi-syndrome#causes

If you are wanting to make a donation to Siena’s FPWR fundraising page, you can do so here xoxo

http://act.fpwr.org/site/TR?pg=personal&fr_id=1732&px=1009083&fbclid=IwAR1SlYPo3o_yxmYijvYlghRhRduoc16jNa0OYF5Fi4X15TMIEpaZ9syupgE