

一人では私たちは稀有です。一緒にいれば私たちは一つです。-NORD *
優しい世界を創ろう
いつもフレンドリー、いつも穏やか、いつも親切。
* 国立希少疾患機構
一人の物語
A very special person once told me: "You are dealt the cards in this life that only you are meant to handle."
My name is Gabrielle Zeppieri but everyone calls me Gabby. Growing up I was described as being a strong and radiant child. I was so full of energy and loved being around family and friends. People told me that my smile lit up a room. I started dancing when I was 3 years old. I loved every second of dance class. I had dreams of becoming a professional dancer. Being up on the stage with my best friends was the light of my life.
Everything started to change when I got a very serious stomach virus when I was 10. My parents rushed me to the Emergency Room in fear of what type of virus I had. After extensive bloodwork, doctors discovered that I had elevated CPK (Creatine Phosphokinase) levels and liver enzymes. This discovery started my journey involving specialty doctors, tests and prescribed medications. At the age of 10 I was misdiagnosed with an auto-immune disorder. After years of medications trials we decided to give up due to me being symptom free.
At this time in my life, I was leading a very typical life. I attended school, had many friends and continued dancing competitively for many years. I eventually went on to get my Masters as a school psychologist. Eventually, with our own research and perseverance, a genetic confirmed diagnosis of Neutral Lipid Storage Disease with Myopathy (NLSD-M) was given to me. This is an ultra rare genetic disease. At the time of my confirmed diagnosis, there were only 15 cases known worldwide. The chances of being diagnosed with this disease was 1 in a million. Currently, I am the ONLY known case in the United States.
At the age of 20, my life started to decline physically when my mom questioned why I was picking up my glass of water with my left hand. After being questioned, I went to pick up my glass with my right hand and realized I had no strength in my hand to pick up the glass. In the years to come I started to experience muscle weakness in my entire right shoulder and arm. Currently, I have a great deal of weakness in my upper and lower extremities. The overall weakness has made daily functioning extremely difficult, especially walking. Currently the only interventions available to me are Occupational Therapy, Physical Therapy, Strength Training, Acupuncture and Supplementation. All of which might slow the progression of this disease but does not cure it.
I question every single day why I was given this life and "why me?" I do realize that for now there is no cure for NLSD-M. Even with knowing this I try not to lose hope in research, doctors and medicine. Through my support team of family, friends and my incredible therapists I have the strength to keep fighting every day.
The fear I face every day is what my future will look like if therapies or medicines aren't developed for NLSD-M. I have created this foundation with the hope that research will continue and a treatment will develop for people like me who struggle with this rare disease. I want others who have been given this diagnosis to feel supported and to know that even if they're one in a million, they're not alone. We are stronger, emotionally and physically, together.
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私たちの使命
私の人生は予想もしなかった形で展開しましたが、ギャビーズ・ワンダフル・ワールド財団の使命は次のとおりです。
1. 中性脂質蓄積病性ミオパチー(NLSD-M)についての認識を世界に広めます。
2. 希少疾患と診断された人々が新しい生活様式に適応できるよう、精神的サポートを提供することで孤立を終わらせ、団結を促す。
3. たとえその治療法が 1 人の個人に効果があったとしても、治癒法のない病気の治療法を見つける。
製薬会社が私たちのための治療法や療法の開発に力を入れる時が来ています。技術と研究の知識はあるものの、乗り越えるべき財政的ハードルがあることは理解しています。私たちは財団として力を合わせ、こうした財政的ハードルを乗り越えるお手伝いをします。
この稀な病気に罹患している人口は少数ですが、闘うチャンスは与えられるべきです。すべての命が大切です。この病気にかかっている人の中には、現在誤診されている人もいるかもしれません。私たちが推進しようとしている治療法は、現在苦しんでいる人だけでなく、将来この病気と診断される人にも役立ちます。私たちの生活を改善する可能性のある治療法の開発を推進する必要があります。
今こそ、私たちグローバルコミュニティとNLSD-M患者が不可能を可能にするときです。私は奇跡を待ち望んでいますし、NLSD-Mに苦しむ皆さんも奇跡を待っていると知っています。私たちは、いつも友好的で、いつも優しく、いつも親切な、やさしい世界を目指して、一緒にこの奇跡を実現できると確信しています。
