November 2022 – Page 4 – Patient Worthy

Photo courtesy of Geraldine Bliss

Raising Phelan-McDermid Syndrome Awareness (And How YOU Can Get Involved at the EL-PFDD Meeting!): An Interview with Geraldine Bliss (Pt. 2)

Post author:Jessica Lynn
Post published:November 7, 2022
Post category:Phelan-McDermid syndrome

Before you read on, make sure to check out Part 1 of our interview with Geraldine Bliss, the President and Co-Founder of CureSHANK and mother to Charles, who has Phelan-McDermid syndrome. Today,…

Photo courtesy of Lacy Biram

Becoming an Advocate for Phelan-McDermid Syndrome (PMS): Lacy and Avenly’s Story

Post author:Jessica Lynn
Post published:November 7, 2022
Post category:Phelan-McDermid syndrome

Prior to her daughter Avenly’s diagnosis, Lacy Biram had never before heard of Phelan-McDermid syndrome (PMS). Currently, there are an estimated 2,200-3,000 people worldwide who have this rare condition. For…

source: shutterstock.com

November 10th is Genetic Counselor Awareness Day

Post author:James Moore
Post published:November 7, 2022
Post category:Rare Disease

Genetic Counselor Awareness Day is recognized on the second Thursday of November each year. In 2022, the day falls on the 10th of November. This awareness day is intended…

AVM arteriovenous malformation

Developing A Worldwide Community for People With Rare Diseases

Post author:Rose Duesterwald
Post published:November 7, 2022
Post category:Arteriovenous malformation

In 2006 twenty-nine-year-old Austinite Ben Munoz of Dallas, Texas experienced such a severe headache and dizziness that he drove to the hospital and underwent surgery several hours later. Ben was…

source: pixabay.com

Study of the Week: Liquid Biopsy Could Help Direct Rhabdomyosarcoma Treatment

Post author:James Moore
Post published:November 7, 2022
Post category:Rhabdomyosarcoma- embryonal

Welcome to Study of the Week from Patient Worthy. In this segment, we select a study we posted about from the previous week that we think is of particular interest…

Photo courtesy of Geraldine Bliss

Raising Phelan-McDermid Syndrome Awareness (And How YOU Can Get Involved at the EL-PFDD Meeting!): An Interview with Geraldine Bliss (Pt. 1)

Post author:Jessica Lynn
Post published:November 4, 2022
Post category:Phelan-McDermid syndrome

On November 8th, 2022, CureSHANK is sponsoring an Externally-Led Patient-Focused Drug Development (EL-PFDD) Meeting for Phelan-McDermid Syndrome (PMS). Co-planned by the Phelan-McDermid Syndrome Foundation, this virtual EL-PFDD meeting will: [give]…

valelopardo / Pixabay

November is Mouth Cancer Action Month

Post author:Rose Duesterwald
Post published:November 4, 2022
Post category:Head and neck cancer Mouth Cancer Oral cancer

Join thousands of people worldwide in raising awareness of mouth cancer during the month of November. It is the largest campaign in the UK in support of education and awareness…

source: pixabay.com

Spotswood PD Holds CDH Awareness Walk

Post author:Jessica Lynn
Post published:November 4, 2022
Post category:Congenital Diaphragmatic Hernia

Gonzolo and Jennifer Garcia were so excited when they learned that they were pregnant with their son, Asher. But during the 20-week ultrasound, they found out that Asher would be…

Source: Pixabay.com

Boy with Craniosynostosis Faces Third Surgery

Post author:Jessica Lynn
Post published:November 4, 2022
Post category:Craniosynostosis

Branson Figueroa is four years old – and he’s tough. He has to be; after being born with craniosynostosis, Branson has had to undergo skull reconstruction surgeries twice already. According…

source: shutterstock

Rare Classroom: Alpha-Mannosidosis

Post author:James Moore
Post published:November 4, 2022
Post category:Alpha-Mannosidosis Alpha-mannosidosis- type 2

Welcome to the Rare Classroom, a new series from Patient Worthy. Rare Classroom is designed for the curious reader who wants to get informed on some of the rarest, most…

source: unsplash.com

Glasgow Council Candidate with Leigh Syndrome Advocates for the Disabled

Post author:James Moore
Post published:November 3, 2022
Post category:Leigh syndrome

According to a story from MSN, Joe McCauley was diagnosed with Leigh syndrome, a rare disease, last year. Now 30 years old, he was fortunate to survive a bout of…

source: pixabay.com

Liquid Biopsies Could Guide Rhabdomyosarcoma Management

Post author:Jessica Lynn
Post published:November 3, 2022
Post category:Rhabdomyosarcoma- embryonal

According to the Institute of Cancer Research (ICR), a collaborative pilot study spearheaded by the Institute found that liquid biopsies could aid in the management, care, and treatment of…

source: pixabay.com

Dupixent Now Approved for Prurigo Nodularis

Post author:Jessica Lynn
Post published:November 3, 2022
Post category:Prurigo nodularis

According to a news release from the U.S. Food and Drug Administration (FDA) in early November 2022, Dupixent (dupilumab) is now approved for the treatment of adults living with…

kalhh / Pixabay

Researchers Identify Gene that Activates P-Subtype SCLC

Post author:Jessica Lynn
Post published:November 3, 2022
Post category:Small cell lung cancer

Unfortunately, there are no cures - nor effective treatment options - for individuals with P-subtype small cell lung cancer (SCLC). This subtype is notoriously treatment-averse; it is also relatively…

When Living with a Rare Disease, Isolating Ourselves can Often Feel Less Lonely

Post author:Tom Seaman
Post published:November 3, 2022
Post category:Dystonia

This may sound like a strange title so let me explain. I live with a health condition called dystonia, which is a neurological movement disorder. It is the third most…

source: pixabay.com

Mom Runs Chicago Marathon to Raise CCHS Awareness

Post author:Jessica Lynn
Post published:November 2, 2022
Post category:Congenital central hypoventilation syndrome

Laura Brown never planned on running more than one marathon. In 2012, she tackled a marathon as a way to cross an item off of her bucket list. But since…

source: pixabay.com

Evaluating COVID Outcomes in Those with CVID

Post author:Jessica Lynn
Post published:November 2, 2022
Post category:Common Variable Immune Deficiency COVID-19

When the COVID-19 pandemic began, many people wondered how it would impact them, especially if living with a rare disease or condition. As the pandemic has progressed, more research has…

source: pixabay.com

Is There a Link Between Stunt Work and CTE?

Post author:Jessica Lynn
Post published:November 2, 2022
Post category:Chronic traumatic encephalopathy

Unfortunately, not much is understood still about chronic traumatic encephalopathy (CTE). However, we do know that it has been linked to repeated head trauma or head injury, such as that…

source: unsplash.com

Experimental Treatment for Alpha-1 Antitrypsin Deficiency Earns Fast Track Designation

Post author:James Moore
Post published:November 2, 2022
Post category:Alpha-1 Antitrypsin Deficiency

According to a story from globenewswire.com, the biopharmaceutical company Mereo BioPharma Group plc has recently announced that the company's investigational therapeutic alvelestat has earned Fast Track designation from the US…

source: shutterstock.com

Dosing Initiated in FLT190 Trial for Fabry Disease

Post author:Jessica Lynn
Post published:November 2, 2022
Post category:Fabry Disease

According to a news release on Yahoo! Finance, clinical-stage biotechnology company Freeline Therapeutics Holdings plc ("Freeline") shared that it had initiated dosing in the second cohort of the Phase…

Treatment for Adult Patients with Chronic Immune Thrombocytopenia (ITP) is Now Available in the UK

Post author:Rose Duesterwald
Post published:November 1, 2022
Post category:Chronic Immune Thrombocytopenia

Fostamatinib is a spleen tyrosine kinase (SYK) inhibitor recommended to treat ITP patients who have been unable to receive a sufficient response from other medications. TAVLESSE® (fostamatinib), developed by Grifols…

https://pixabay.com/en/fishing-sunset-british-columbia-366445/

Raffle Raises Funds for Firefighter with Epithelioid Sarcoma

Post author:Jessica Lynn
Post published:November 1, 2022
Post category:Epithelioid sarcoma

In January, Harrison Moseby began having shoulder pain that was interfering with his day-to-day life. As a father and a firefighter, Harrison knew that he needed to be functioning as…

A New Drug With the Potential to Lessen the Demand for Liver Transplants

Post author:Rose Duesterwald
Post published:November 1, 2022
Post category:Liver Research Nonalcoholic fatty liver disease

Dr. Paul Monga, director of Pittsburgh’s Liver Research Center, and his team are studying cancer and liver regeneration. Dr. Monga recently published a study that finds activation of a medication…

source: pixabay.com

Rugby Player Who Committed Suicide Later Found to Have CTE

Post author:Jessica Lynn
Post published:November 1, 2022
Post category:Chronic traumatic encephalopathy

In his life, Paul Green accomplished a lot. He coached the North Queensland Cowboys, who won the National Rugby League title in 2015. Paul played for five different National Rugby…

source: unsplash.com

“For Seven Years I Thought I had a Perfectly Healthy Child” – Jessica’s Story

Post author:Patient Worthy Contributor
Post published:November 1, 2022
Post category:Familial Hypercholesterolemia

This story was originally published by the Family Heart Foundation, a Patient Worthy partner organization. When Jessica’s father died of a heart attack at the young age of 54, she…

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Raising Phelan-McDermid Syndrome Awareness (And How YOU Can Get Involved at the EL-PFDD Meeting!): An Interview with Geraldine Bliss (Pt. 2)

Becoming an Advocate for Phelan-McDermid Syndrome (PMS): Lacy and Avenly’s Story

November 10th is Genetic Counselor Awareness Day

Developing A Worldwide Community for People With Rare Diseases

Study of the Week: Liquid Biopsy Could Help Direct Rhabdomyosarcoma Treatment

Raising Phelan-McDermid Syndrome Awareness (And How YOU Can Get Involved at the EL-PFDD Meeting!): An Interview with Geraldine Bliss (Pt. 1)

November is Mouth Cancer Action Month

Spotswood PD Holds CDH Awareness Walk

Boy with Craniosynostosis Faces Third Surgery

Rare Classroom: Alpha-Mannosidosis

Glasgow Council Candidate with Leigh Syndrome Advocates for the Disabled

Liquid Biopsies Could Guide Rhabdomyosarcoma Management

Dupixent Now Approved for Prurigo Nodularis

Researchers Identify Gene that Activates P-Subtype SCLC

When Living with a Rare Disease, Isolating Ourselves can Often Feel Less Lonely

Mom Runs Chicago Marathon to Raise CCHS Awareness

Evaluating COVID Outcomes in Those with CVID

Is There a Link Between Stunt Work and CTE?

Experimental Treatment for Alpha-1 Antitrypsin Deficiency Earns Fast Track Designation

Dosing Initiated in FLT190 Trial for Fabry Disease

Treatment for Adult Patients with Chronic Immune Thrombocytopenia (ITP) is Now Available in the UK

Raffle Raises Funds for Firefighter with Epithelioid Sarcoma

A New Drug With the Potential to Lessen the Demand for Liver Transplants

Rugby Player Who Committed Suicide Later Found to Have CTE

“For Seven Years I Thought I had a Perfectly Healthy Child” – Jessica’s Story

Metastatic Breast Cancer: Navigating Grief

Rethinking What It Means to Live With Acromegaly

The Let’s Chat CAR T One-on-One Mentor Program: Speaking with Someone Who Understands What You Are Going Through

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