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

SIENA’S BIRTHDAY COUNTDOWN | Rare Disease Day 2021

Today we celebrate Rare Disease Day. “What does that mean?,” you may ask…

Well, for our family it is a way for us to bring awareness to Prader-Willi Syndrome, and to honor our daughter, Siena, who despite all the obstacles she faces, THRIVES while living with this rare disease. She amazes us every day with her wit and charm… and “occasional” stubbornness.

This little girl who had such low muscle tone when she was born that she could not suck from a bottle, didn’t walk until she was two years old, and has had speech, occupational and physical therapy since she was a baby IS NOW reading, writing, singing , dancing, swimming, playing clarinet and piano, and is hilarious! Her sense of humor leaves us in stitches!

Since Siena was diagnosed in 2011 there have been TREMENDOUS efforts made for the treatment of PWS, but we still do not have a cure. There may never be a cure, but WE HAVE HOPE that Siena will be able to live an independent life, FULL of happiness and making her dreams come true. While we would never want to change all of the amazing and RARE qualities that make Siena..well, Siena… we WILL do anything to help eliminate the challenges she faces today (which change daily) and the days that lie ahead.

According to Global Genes, approximately 50% of rare diseases do not have a disease specific foundation supporting or researching their rare disease. THANKFULLY, Prader-Willi Syndrome has two amazing resources. The Prader-Willi Syndrome Association https://www.pwsausa.org/ and the Foundation for Prader-Willi Research https://www.fpwr.org/ and YES! you will see Siena on FPWR’s website! xo

Over the past 10 years we have supported FPWR and their research efforts to ensure that the most important scientific research is funded to find treatments for the many complications of PWS. Today there are many drugs in clinical trials that have the potential to change Siena’s future and possibly afford her that independent future that we dream of for her. In honor of Rare Disease Day and Siena, we’ll be giving to FPWR. If you feel inclined to give to a charity for Rare Disease Day, a very special Grandmother has pledged to match up to $12,000, so you can double your impact! Here is Siena’s Personal Fundraising Page!http://act.fpwr.org/site/TR?pg=personal&fr_id=1732…

RARE FACT : In the United States, a rare disease is defined as a condition that affects fewer than 200,000 people. 30 million people in the United States are living with rare diseases. This equates to 1 in 10 Americans or 10% of the U.S. population.

IF YOU KNOW SOMEONE LIVING WITH A RARE DISEASE GIVE THEM A SPECIAL SHOUT OUT TODAY.

And as always, THANK YOU, THANK YOU, THANK YOU for your love & support. xo

#RareDiseaseDay2021#CANTSTOPWONTSTOP#TAKETHATPWS#FPWR#SIENAEVE

BIRTHDAY CELEBRATION COUNTDOWN!!

5 days til this Rare Girl turns 11 on March 12th! Prader-Willi Syndrome is caused by an abnormality of chromosome 15, and so for the next 15 days I will be sharing about our girl SiSi and her life living with PWS. February 28th we will also celebrate Rare Disease Day, so this falls at a perfect time because ALL DONATIONS made to the The Foundation for Prader-Willi Research are being matched by a special Grandmother now through Feb 28th! What better time to make your tax deductible donation?! Here is Siena’s BIRTHDAY CELEBRATION fundraising page!!! http://act.fpwr.org/site/TR?pg=personal&fr_id=1732…As always thank you for all the love and support you have shown our family over the years! (March 10th will mark 10 years since Siena’s diagnosis!!) xoxo

PWS Awareness 2019

Thank you for visiting our page! Our sweet Siena was diagnosed with Prader-Willi Syndrome on March 10, 2011, two days before her first birthday, and at the time, it was earth-shattering. Although we finally had an answer we had searched for since she was born, we felt lost and alone. Thankfully, in November 2011, we were blessed to find our TRIBE and that was within the other PWS Families we met through the Foundation for Prader-Willi Research.

Since Siena was diagnosed there have been TREMENDOUS efforts made for the treatment of PWS, but we still do not have a cure. There may never be a cure, but WE HAVE HOPE that Siena will be able to live an independent life, FULL of happiness and her every dream. While we would never want to change all of the amazing and RARE qualities that make Siena..well, Siena… we WILL do anything to help eliminate the challenges she faces today and the days that lie ahead.

Over the past 8 years we have supported FPWR and their research efforts to ensure that the most important scientific research is funded to find treatments for the many complications of PWS. Today there are many drugs in clinical trials that have the potential to change Siena’s future and possibly afford her that independent life that we dream of for her.

In honor of Prader-Willi Awareness Month, Siena and all of her friends, we’ll be giving to FPWR. We are making a BIG ASK for anyone who would like to donate, to shoot for a minimum of $15 BY May 15th in recognition of 15th Chromosome. YOUR DONATION WILL will be matched up to $50,000 UNTIL MAY 15th, so you can double your impact!

CLICK HERE FOR SIENA’S FUNDRAISING PAGE!!

Because of ALL of YOU, Siena has the confidence… the strength… the determination… to defy PWS. BECAUSE SHE WILL NOT GIVE UP, SHE WILL MOVE MOUNTAINS. And as always, THANK YOU, THANK YOU, THANK YOU for your love & support, it truly does take a village. xo

#livelifefull #takethatpws #cantstopwontstop #sienaeve

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Day 31 of PWS Awareness Month. Gratitude.

As we end our PWS Awareness Month, I want to thank everyone who participated by donating in any of the fundraisers and for all who followed along and read our family’s posts. 

In closing, I would like to share my dear friend and fellow PWS mama Gwyneth Jones Spearman’s amazing words.

Thank you for going on this journey of PWS with us💕

~A Letter to You All~

To the parents that just received a diagnosis that rocked you to your core and took you to your knees…I see you, I hurt with you, and I want you to know it will be ok. 

To the new mom who is struggling with post partum or PTSD…do not brush it aside and try to fight it alone.  Talk to someone…anyone… and with the support of others, choose the help that best fits your needs.  

To the husband who is trying to comfort a grieving wife and mom …you are doing an amazing job.  Just hold her tight and do not let her go. 

To the wife who is trying to comfort a grieving husband and dad…you are doing an amazing job.  Just hold him tight and do not let him go.

To the doctor that decided to run the genetic testing…I was so stinking mad at you initially, but I learned that you had my child’s best interest at heart and gave her the best opportunity at living her best life through early intervention…so thank you.  I am truly grateful for you.

To the confused grandparents waiting anxiously to comfort your son or daughter and meet your grandchild…I see your pain, and want you to know that just being there means the world.  You do not have to say anything. 

To the other family members trying to make sense of this, thank you for giving us space to figure it out and thank you for just listening.

To the pediatrician that gets our life…the blessing you are is only from above.

To the friends that feel helpless when crisis hits…thank you for calling, texting, and just listening.  And thank you for agreeing life sucks right now. Please, do not stop checking in.

To the NICU baby in bed 18 who was rolled back to surgery…I prayed so hard for you and your family.

To the church family and friends that brought meals and cared for the other precious kiddos…you are a treasured gem.

To the family that still has no diagnosis…you know your child better than anyone.  You are going to want to give up…don’t.

To the NICU nurse that rocked my baby girl all night and took care of her like your own…I will never be able to repay you.

To the adoptive family, your forever home brings me to tears in the most beautiful way.

To the single mom or single dad who is utterly exhausted and overwhelmed…you are doing a damn good job, and you make every single one of us proud to know you and call you a friend.

To the sibling(s)…you have been given an extraordinary gift.  It will not always be easy, and sometimes it could be down right hard…but I promise you this; it will be beautiful, and you will be better by having one another in this life. 

To the family walking into the children’s hospital to visit a “Specialist” that you have been told is just one of many to come…I smiled at you and said “hi” in hopes that you would know you are not alone.   

To our Father who has known our journey long before we ever did, and has loved and will love us through it all…I trust you, I love you, and I pray your will be done. 

To the endocrinologist who has committed her life to my child’s rare genetic disorder, you are proof that angels really do exist.

To the yearly donors giving funds to support research for my daughter’s rare genetic disorder…I will never be able to put into words my thanks.  The hope you give our family is indescribable.

To the teachers and educators that will teach my child…we are on the same team,  and I hope you can sense that I respect and trust you.  Let’s work together to meet my child where she is, capitalize on her strengths and refine and work on her weaknesses. 

To the therapists that work with my child weekly, we’ve become family.  I might not always seem happy or nice, but I’m so utterly grateful for you.

To the individuals that might consider being mean or bullying my kid…one word for you – DON’T.

To the individuals that accept my child for who she is, and become her friend – quirks and all…words cannot adequately describe my love for you.   

To all the all the families of special needs we’ve met and will continue to meet along our journey…I never thought I wanted to meet you, but I’m so deeply glad we did and simply cannot imagine life without you.

To my child…gosh, I love you so much.