��ֳ�: Proud to Mark #TK2dTuesday and Recognize Challenges and Unmet Needs Faced by Families Living with TK2d

Vanco Vlastimil (��ֳ� S.A.) — Tue, 13 Sep 2022 08:14:37 +0000

Donatello Crocetta, ��ֳ� Rare Disease Organization

Vanco Vlastimi… Tue 13/09/2022 - 10:14

Every family who lives with rare disease has experienced formidable challenges while playing a key role in the journey for treatment and a cure. As the healthcare industry aims to uncover more around rare diseases, the important role that community plays for rare disease families is pivotal as each find their way in a new reality, advocate for one another and help educate the wider healthcare communities to be a part of the solution.

That’s why we’ve made it a top priority at ��ֳ� to support families living with rare diseases. We’re committed to growing our knowledge of these diseases, pursuing new treatment options, and advocating for rare disease communities.

An important area of focus for us is thymidine kinase 2 deficiency (TK2d), a rare and debilitating infantile onset genetic mitochondrial disease which can be life threatening. Symptoms include severe muscle weakness as well as loss of motor and respiratory functions. This can impact a patient’s ability to walk, eat, and breathe independently and, in some cases, may lead to an early death.

TK2d results from a mutation in the TK2 gene that reduces the production of an important enzyme, thymidine kinase 2 (TK2). TK2 plays a key role in proper functioning of your mitochondria, which provides the energy that powers many critical body functions.

Because doctors still have limited information on TK2d — and because many other diseases have similar symptoms — it can take a long time to diagnose the disease. According to a 2018 survey, 55% of patients received a different diagnosis before being correctly diagnosed with a mitochondrial disease, and 32% of those patients had multiple misdiagnoses. Fortunately, genetic testing is now available, offering a quicker path to diagnosis.

While healthcare providers can help manage symptoms, there are no FDA-approved therapies to treat TK2d today.

The good news is there are several clinical trial programs underway for TK2d and other mitochondrial diseases. At ��ֳ�, we’re working to advance the understanding of TK2d and raise awareness of the families affected by it. On TK2d Tuesday, I hope you’ll join us in showing your support and spreading the word.

Visit our Rare Diseases page to learn more about ��ֳ�’s commitment to rare disease.

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Showing Our Stripes: ��ֳ�’s Commitment to the Rare Disease Community

eCMSadmin — Wed, 24 Feb 2021 00:00:00 +0000

Showing Our Stripes: ��ֳ�’s Commitment to the Rare Disease Community

Jim Baxter, Patient Value Neurology & Europe/International Solutions

eCMSadmin Wed 24/02/2021 - 01:00

Thought Leaders:

Charl van Zyl, Head of Neurology Solutions and Europe/International Markets
Iris Loew-Friedrich, Chief Medical Officer

Too often, people who live with rare diseases are faced with the worry that no one is listening to their needs – that the conditions that affect their lives in such significant ways are ignored simply because the patient populations are relatively small. ��ֳ�’s foundational commitment has always been to deliver valuable, meaningful treatments to people living with severe diseases. Though we have grown and evolved, our method remains unchanged: follow the science, listen to and learn from patients and deliver breakthrough solutions where the unmet need is greatest. We proudly bring that same approach and heritage to our work with the rare disease community.

Across our social media platforms and throughout the company this week, we are “Showing Our Stripes” by shining a light on rare disease communities as part of Rare Disease Week. The zebra is the official symbol of rare diseases because just like the zebra, rare disease patients wear their own unique stripes.

Each year, Rare Disease Week serves as important moment to reflect on our mission and reaffirm our commitment to the rare disease patients we serve. Navigating the unique challenges of a chronic illness takes strength, the kind of strength that rare disease patients find within themselves each day. We are inspired by their perseverance – and we are challenged to match it. Every day, ��ֳ� team members around the world are pouring that inspiration into our work – delivering tailored solutions to that meet the needs of underserved rare disease communities.

Doing this work means getting to understand these patient communities – and our work cannot be relegated to just the laboratory. Our relationships with patients extend beyond medicines to include support of programs, partnerships, patient communities, advocacy groups, resources and philanthropy efforts that support their overall care experience and needs to manage their severe diseases.

At ��ֳ�, we aspire to lead by supporting patients on their journey and learning from their invaluable insights to guide the way. The patient perspective is of the utmost importance as we continue to collaborate and innovate for the future.

To our ��ֳ� colleagues, thank you for furthering our mission. And to the rare disease community – patients, caregivers, family and friends – thank you for inspiring us each day. We are sharing our stripes with pride for you.

We hope you will join us in recognizing the perseverance and courage of these rare disease patient groups and invite you to learn more about ��ֳ�’s work in rare at /disease-areas/Rare-diseases.

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Rare Disease Week Rare Disease Community

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��ֳ�: Proud to Mark #TK2dTuesday and Recognize Challenges and Unmet Needs Faced by Families Living with TK2d

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Showing Our Stripes: ��ֳ�’s Commitment to the Rare Disease Community

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������ֳ�: Proud to Mark #TK2dTuesday and Recognize Challenges and Unmet Needs Faced by Families Living with TK2d

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Showing Our Stripes: ������ֳ�’s Commitment to the Rare Disease Community

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��ֳ�: Proud to Mark #TK2dTuesday and Recognize Challenges and Unmet Needs Faced by Families Living with TK2d

Showing Our Stripes: ��ֳ�’s Commitment to the Rare Disease Community