Luka Shai Foundation

12/12/2023

Hi Fabulous Facebook friends! Looking for help:
Anyone of you live in Shanghai, China or speak Mandarin that can help? I'm trying to contact some specific researchers at the Children's Hospital of Fudan Universty.
THANK YOU so much!!!

07/19/2023

T minus 3 days until the 6th World CDG Conference!

Being a parent of a child with a rare disease like CDG can be an overwhelming and often isolating experience. Rare disease parents often navigate a challenging and unique journey, filled with uncertainty, unanswered questions, and limited support resources. The emotional toll can be immense, ranging from fear and grief to resilience and determination. Connecting with other rare disease parents and finding support networks can provide an invaluable source of strength, empathy, and shared experiences, reminding them that they are not alone in their journey.

We at the Luka Shai Foundation are so excited to meet other families, researchers, caregivers, specialists, and everyone involved in the world of CDG.
Together - we can achieve anything!!!

07/19/2023

T minus three days!!

We at the Luka Shai Foundation are so thrilled to attend this years world CDG organization conference in Portugal!

Congenital Disorder of Glycosylation (CDG) refers to a group of genetic disorders affecting the body's ability to properly attach sugar molecules to proteins and lipids. This leads to a wide range of symptoms, including developmental delays, intellectual disabilities, and various organ malfunctions. It is important for people to be aware of CDG to foster understanding and support for those affected by this often overlooked and rare condition, promoting early diagnosis, access to specialized medical care, and research towards potential treatments.

While there are over 170 different types of CDG with carrying phenotypes, all research and awareness is important and can benefit us all.

Will we see you there?!?!

05/16/2023

AWARENESS for CDG is key, to accelerate therapeutic options.
Today is global Congenital Disorder of Glycosylation Awareness Day!

CDG is a large, inherited, rapidly expanding group made up of about 177 different types of disorders that are life altering, can be life threatening or fatal due to multiple organ failure.

Despite rapid advances in medicine, fewer than 5% of rare diseases have drug therapies available, thus making most rare diseases, like CDG, having no treatment options at all.

30 million Americans are affected by rare diseases (twice the number of cancer patients!) and for the top 350 (of about 10,000 rare diseases and growing) 27% will not make it to their first birthday.

Why should you care and raise awareness with us???
1. Many CDG cases are under or misdiagnosed.
2. 70% of rare diseases start in childhood, yet on average it takes 5 years to get diagnosed. That could be potentially five years of poor quality of life, or not surviving at all.
4. The probability of finding a health care provider that knows of or has treated someone with CDG is low
5. Most CDGS don’t have a treatment, and the quality of life and survival of CDG patients depend on research and funding.
6. Given the scarcity of research and funding available to rare diseases; lack of awareness is a challenge for researchers in this field.

Please share, create awareness, read into, and help celebrate those living with CDG and their caregivers. It takes a village and we shall overcome!!

TAG US IN YOUR GREEN TO SHOW SUPPORT!!!!!

05/14/2023

Happy Mother’s Day to all the rare disease mamas and caregivers out there!! I treated myself to a Mother’s Day photo shoot and it didn’t go according to plan. Tears, bribes, and Peppa pig on repeat - I’m still recovering from the craziness!! As I sift through them to find one that doesn’t include one of us having a meltdown and me sweating profusely I found myself being drawn to these raw, unedited and REAL photos. No one plans to be a rare disease mum, and having it be X-linked genetically linked makes it especially hard; even though I know it’s not my fault. But these photos, like life, They reflect the imperfect, often messy, but super amazing journey being a rare kid parent is.
These pics remind me that perfect isn’t attainable, and that growth comes from all the imperfect moments along the way, that doing our best is enough, and I’ll take all the raw, messy, hard and imperfect moments as part of the fight for a cure. They build strength, and we are super mamas.
So here’s to you - my superhuman mamas on this day - every day should be mothers day for you - you tirelessly work to make sure your kiddos are happy and as healthy as they can be. Nothing else matters.

Pics by

05/09/2023

One week from today is World Congenital Disorders of Glycosylation (CDG) Awareness Day, and we’re gonna paint the day green!

Why green?! It signifies growth, health, hope. It evokes optimism, hopefulness and comfort. It’s psychologically connected to positivity. All these traits and more are what families with CDG have and carry with them every day - with unrivaled strength and determination!

We stand with and the larger CDG Community to encourage people to wear and use green on May 16th to show support for children and adults affected with CDG.

Give us a 💚 below in solidarity and hope to “see” you tag us may 16th in your green!!!

03/07/2023

Our Website is now live!!!

If our story doesn't resonate with you, our mission will!

Take a look and let me know what you think and leave a comment below!!!

Luka Shai Foundation - was established in 2022 to support research, provide advocacy and further communities impacted by rare diseases.

03/07/2023

February 28th was Rare Disease Day! A day to globally raise awareness and generate change for the 300 million people worldwide living with a rare disease, their families and carers.

Rare Disease Day is the globally-coordinated movement on rare diseases, working towards equity in social opportunity, healthcare, and access to diagnosis and therapies for people living with a rare disease.

IF YOU, or anyone you know has a rare disease or cares for someone with a rare disease, it was a call to action for this vulnerable population who require immediate and urgent attention. SHARE, REPOST, CALL IT OUT ON SOCIAL MEDIA.

Together, we can help make change -----
According to the National Institutes of Health (NIH), there are approximately 7,000 rare diseases affecting between 25 and 30 million Americans. This equates to 1 in 10 Americans, or one on every elevator and four on every bus.

Many rare diseases appear early in life, and about 30% of children with rare diseases will die before reaching their fifth birthdays.
Of the 7,000 known rare diseases, approximately 95 percent have no treatment.

We at the Luka Shai Foundation aim to use this platform to talk about rare disease, to inspire, to advocate and bring awareness to a group of people, most of whom are children, that don't have a voice.