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.

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She Will Move Mountains

This is for any family who has a loved one that has recently been diagnosed with Prader-Willi Syndrome.

This is for all of the super hero parents out there that never stop fighting for their children.

This is for the scientists and doctors (our angels) that have made it their life’s work to find new therapies, and hopefully one day, a cure.

This is for anyone who has ever attended a Siena’s PWS Walk, has so generously donated to any of the Foundation for Prader-Willi Syndrome’s fundraisers, or has shown our Siena support IN ANY WAY throughout the past 7 years.

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.  #takethatpws #cantstopwontstop #sienaeve30714703_10155824121034051_5469672213307195392_n

 

RARE DISEASE DAY 2018

2018 rare disease

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, 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. Just this morning I was yelling to the other room to my oldest daughter, Isla…”ARE YOU GETTING DRESSED?”… Siena, who was standing beside me, says “Well, I GUARANTEE that’s NOT happening.”  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 who we could barely understand just 2 years ago IS NOW learning to read and write and jump and swim and sing and dance and… make jokes!  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 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.

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 7 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, FPWR’s Board of Directors will be matching up to $10,000, so you can double your impact! https://research.fpwr.org/donate  (AND ANOTHER BONUS…IF YOU CLICK ON THIS LINK YOU WILL ALSO SEE SIENA WITH HER SISTERS!!!!!!)

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

#2018WRDD #CANTSTOPWONTSTOP #TAKETHATPWS #SIENAEVE

Siena Eve’s LIVE LIFE FULL Campaign

https://onesmallstep.fpwr.org/dw/users/sienaeve/VirtualFundraiser

We know many of our friends and family cannot attend the Philadelphia Live Life Full Gala in December and have asked if there are other ways they could contribute, so we decided to set up this fundraising page like we did last year. Your donation is tax deductible and 100% of it will go to the Foundation for Prader-Willi Research.
2017 started out a bit rocky for Siena, as she spent a week in the hospital because of an abdominal abscess, which to this today we are still not sure what caused it. What we do know is that without the research and knowledge that has been achieved by our team of PWS experts, Siena would not be the healthy little girl she is today. They guided the doctors at the hospital through the many medical difficulties associated with PWS and together we chose the best approach to treat the abscess. Siena’s team of experts is largely funded by the Foundation for Prader-Willi Syndome, and because of this, we have pledged our unwavering support to FPWR. Our mission of hope is that one day Siena, and all of her friends with Prader-Willi Syndrome, will live an independent life, free of the burdens that are associated with PWS, so that they may LIVE LIFE FULL.
As always, we are forever grateful to all of you for being our village. Without your love and support our light of hope would be very dim. xo
With Love,
Andy, Jamie, Isla, Siena & Lucca

 

RESEARCH, RESEARCH, RESEARCH!

I have to admit SCIENCE was NOT my best subject growing up, and I always thought, “well, I won’t really need it in the future anyway”!!   Boy, was I wrong!  Here I sit with a daughter with Prader-Willi Syndrome, trying to raise money for its research… and hence, SCIENCE!

Having just attended the Foundation for Prader-Willi Syndrome Research’s Scientific Day in Indianapolis, I must tell you that most of the SCIENCE is STILL over my head!  BUT, what I do understand is that without it, Siena would not be where she is today.  The researchers and scientists that are funded through FPWR are CHANGING THE FUTURE for those living with Prader-Willi Syndrome.  And while I may not have understood every “sciencey” word, I had to hold myself back from running up and hugging each and everyone of the doctors and scientists for dedicating their lives to making a difference in ours.  They are truly celebrities to us!

So now, since I am helping to promote the 2nd Annual Philly Live Life Full Gala being held on December 2nd to benefit the Foundation for Prader-Willi Syndrome Research, I thought I might help you all to understand what exactly the gala will help fund!  From Endocrinology to Mental Health to Obesity the project categories are diverse to cover all the many challenging symptoms associated with PWS.

The first project I would like to introduce is one I found extremely interesting that was presented by Tony Holland, MD, and involves vagus nerve stimulation to help treat temper outbursts and emotional dysregulation that characteristically affect people with PWS.

Here is the link to read more about Dr. Holland’s project.  https://www.fpwr.org/fpwr-funded-projects/proof-of-concept-study-of-vagus-nerve-stimulation-from-an-external-device-in-pws-year-2/

Thank you for reading and hope this will help you get excited about raising money for research!!  OH!!!  And EARLY BIRD TICKETS ARE NOW AVAILABLE FOR THE GALA!

https://www.fpwr.org/events/2017-live-life-full-gala-philadelphia/

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2nd ANNUAL LIVE LIFE FULL PHILLY

I am guessing you all know I have a slight obsession for raising awareness about Prader-Willi Syndrome, haha!!!!!

While I am normally found photographing conferences or various fundraisers for The Foundation for Prader Willi Research (FPWR group page), this year I was invited to join the planning committee for the 2nd Annual Live Life Full Gala in Philadelphia on December 2, 2017!!!!! I am so excited to help make this an amazing event and raise money for PWS research!!!!

We are looking for sponsors, silent auction items, as well as gala attendees (HINT, HINT)!!!! Please contact me if you or anyone you know may be interested in becoming involved AND PLEASE HELP ME SPREAD THE WORD!!!! HUGE THANK YOUS to Kate Yingling Schumacher & Trisha Hawthorne for joining the planning committee with me!!!! And of course, this wouldn’t even be possible without two amazing, super-hero PWS moms who pull it all together – Rebecca Wolf McWilliams & Samantha Chipetz!!! xo

Yes, I may be slightly obsessed with raising awareness for PWS, but I am COMPLETELY OBSESSED with finding a way to help our sweet Siena to LIVE LIFE FULL!!

#takethatPWS #cantstopwontstop #sienaeve #LiveLifeFullPhilly2017

Save The Date

That’s a Wrap #PWSAWARENESSMONTH

Today is the last day of Prader-Willi Awareness Month, thank you for following our journey.
We had a very rough beginning to our 2017 and know first-hand how important it is to educate our community about rare diseases. In January, when Siena suffered extreme abdominal pain, we went to our local Emergency Room and were sent home TWICE with them telling us it was just constipation. Two characteristics of PWS – high pain threshold and slow digestive system had masked a life-threatening abscess that was causing a major infection in Siena’s body. Thankfully….VERY THANKFULLY… we ended up at a hospital that was knowledgeable about Prader-Willi Syndrome and took the steps needed to find the abscess. Siena was put on IV antibiotics and had to fast for 6 days while she remained hospitalized, and continued antibiotics for 2 weeks after being sent home.
We are still doing testing and trying to figure out what caused the abscess and it could turn out it has nothing at all to do with Prader-Willi Syndrome. BUT, the fact remains that we could have lost our sweet, sweet girl because our local ER did not have the knowledge about PWS, nor did they listen when I tried to explain to them about her high pain threshold. Instead, we were sent home and told to double up on the mirilax and give her an enema.
KNOWLEDGE and AWARENESS is what SAVED our daughter’s life. Scary, however, that we had to drive almost 2 hours to find it. The reason we tell our story is not for anyone to ever feel sorry for us or for Siena, but to spread AWARENESS and KNOWLEDGE about Prader-Willi Syndrome…. so that hopefully the next time she needs emergency medical attention, we can get the care needed right away…. so that someday, our words will find the ears and mind of someone who will find a CURE.
“If I can’t find the cure, I’ll
I’ll fix you with my love
No matter what you know, I’ll
I’ll fix you with my love
And if you say you’re okay
I’m gonna heal you anyway
Promise I’ll always be there
Promise I’ll be the cure”
#cantstop #wontstop #PWSAWARENESSMONTH #PraderWilliSyndrome #SienaEve