Rose became acquainted with Patient Worthy after her husband was diagnosed with Acute Myeloid Leukemia (AML) six years ago. During this period of partial remission, Rose researched investigational drugs to be prepared in the event of a relapse. Her husband died February 12, 2021 with a rare and unexplained occurrence of liver cancer possibly unrelated to AML.
The failure rate of drug development for Alzheimer’s is 99 percent according to a recent study. Since 1984 scientists have concentrated on developing treatments to prevent the formation of…
Continue ReadingAlzheimer’s Disease: An Influential 2006 Study Containing False Images Leads Scientists To Reverse Previous Theories
Emergency Room (ER) doctors are gradually being replaced by physician assistants and nurse practitioners. The Neiman Institute reported that between 2005 and 2020 the number of ER visits with midlevel…
Continue ReadingThe Journal of Emergency Medicine: By 2030 The Number of Midlevel Practitioners Will Equal the Number of Doctors In the ER
A town hall meeting was held on February 7th of this year to discuss designs for clinical trial gene therapies. According to a report in Pharmaceutical-Technology, the FDA experts were…
Continue ReadingClinical Development of Gene Therapy Products for Rare Diseases
This week the family of actor Bruce Willis announced that he received a diagnosis of frontotemporal dementia (FTD), a rare disease that causes behavioral changes, language, speech, and memory…
Continue ReadingThe Family of Actor Bruce Willis Acknowledges his Diagnosis of Primary Progressive Aphasia
509 words 8% matched vs 786 words 5% matched A new study recently appeared in the publication The Conversation written by authors Laura Whitworth, Group Laboratory Manager, and Prof. Lalita…
Continue ReadingGaucher Disease Appears to Protect Against Tuberculosis in Ashkenazi Jews
Researchers are closing in on cancer from every angle. Recently a team at the Colorado University (CU) Cancer Center has been focusing on p53, a common gene mutation found…
Continue ReadingResearchers Discover Mechanism for Triggering the Death of Cancer Cells
Stat News recently published comments by Bruce Bloom, collaboration officer at Healx, Cambridge, UK heralding the major advances in the treatment and the study of rare disease during 2022.…
Continue ReadingThe Number of Rare Diseases has Risen to 10,867, Affecting over 300 Million People
The Schleswig-Holstein University Hospital and the Max Planck Institute in Germany have investigated a hereditary condition that is extremely rare called brachyphalangy, polydactyly, and tibial aplasia/hypoplasia (BPTA) syndrome. Symptoms…
Continue ReadingThe Extremely Rare Disease BPTA Syndrome may Lead Scientists to Prevent the Development of Cancer
Two Southern California University studies showed a reduction of neurodegenerative activity in amyotrophic lateral sclerosis (ALS) research models with each using a different treatment route. As reported in Inside Precision…
Continue ReadingResearch Reveals Two Potential Methods for Treating ALS
BBC NEWS recently reported on the versatility of AI in predicting dementia. Alzheimer’s destroys connections between the brain and nerve cells, thereby damaging cognitive abilities and memory. It is…
Continue ReadingAI Can Predict Dementia Fifteen Years Prior to Symptoms Occurring
Their son, Caeleb, was only eleven months old when he developed a severe bleeding episode. The family had just moved from Houston to New Mexico and they had not yet…
Continue ReadingFlashback: Seventeen Years ago Their Baby Survived a Life-threatening Hemophilia Episode
Kimberly Greenberg’s baby, Parker, was born a few weeks early but came into this world on January 2, 2016, as a healthy, normal baby. However, just before Parker was to…
Continue ReadingA Group of Dedicated and Loving Families Plan to Conquer HIST1H1E Syndrome
Four-year-old Rayhan Majid of North Lanarkshire, UK was a healthy little boy who enjoyed swimming, football, and Taekwondo. He began to have severe headaches in October 2017. His mum,…
Continue ReadingBoy Dies of Medulloblastoma After Doctors Repeatedly Dismissed his Parents’ Concerns
Whole genome sequencing is providing high-level information about new rare diseases putting pressure on drug developers to pick up the pace. Of approximately 7,000 rare diseases, most do not have…
Continue ReadingShining a Light on Drug Repurposing for Rare Diseases
Compassion [kuhm-pash-uhn] noun A feeling of deep sympathy and sorrow for another who is stricken by misfortune, accompanied by a strong desire to alleviate the suffering. Compassion Corner is a…
Continue ReadingCompassion Corner: Is There a Healthcare Crisis? If so, can Compassionate Doctors and Nurses Solve It?
Dr. Valeria Ricotti of the Institute for Child Health- Great Ormond Street UK, spoke with BBC News on the subject of AI analyzing body movement. Dr. Ricotti and other researchers…
Continue ReadingNew AI Technology Connects Avatar and Friedreich’s Ataxia
This is Part 2 of a two part story. Check out Part 1 here. The loss of his child through Edwards Syndrome helped Dr. Harsha Rajasimha understand the suffering and…
Continue ReadingA Global Perspective is Crucial to Improve Rare Disease Care, Part 2
ABC News recently carried an article describing an anticipated surge in the latter part of 2020 of acute flaccid myelitis. Thankfully, it did not occur. The disease is caused by…
Continue ReadingExperts were Expecting a Jump in Acute Flaccid Myelitis Cases. It Never Happened
PART I The baby died almost immediately after birth. Edwards Syndrome is a rare congenital disease. Only about ten percent of newborn babies survive past their first year. Babies…
Continue ReadingA Global Perspective is Crucial to Improve Rare Disease Care, Part 1
When Rylae-Ann was one year old, her parents had to hold her in an upright position at night in order for her to breathe. Rylae-Ann had a rare genetic disease,…
Continue ReadingAADC Deficiency: New Therapy Delivered Directly to the Brain Saved her Life
An opinion expressed by Sheila Frame, President of Americas at Amryt Pharma, was published recently in the Pittsburgh Post-Gazette. Ms. Frame, who serves on the board of the Rare…
Continue ReadingCongress Could be Instrumental in Helping Fifteen Million Children with Rare Diseases
Little 2 1/2-year-old Raiden Pham cannot walk or talk, but he can smile at his parents and radiate love. The baby’s parents are on a 24/7 schedule caring for…
Continue ReadingHe has Ultra-Rare UBA5 Disease, but There is Hope for this Little Boy
Jenny Decker’s disease, Charcot-Marie-Tooth (CMT), is named after the three doctors who first discovered the disease in 1886. CMT is a progressive neurological disease that affects approximately 2.6…
Continue ReadingA Nurse With CMT is Preparing to Circumnavigate the Globe
Jason Tolson age 30 of Yorkshire, UK had not been diagnosed when he first began to have symptoms in May 2022. Jason began to experience muscle and joint pain…
Continue ReadingNo one has Survived Anti-MDA5 Dermatomyositis but Jason’s Family Hoped he Would be the Exception
Genethon is a non-profit organization committed to the design and development of gene therapies for rare diseases. This unique company is a pioneer in identifying genes relating to genetic…
Continue ReadingGenethon Launches the First Clinical Trial for Crigler-Najjar Syndrome
Sign Up With a Patient Worthy Account and Share Your Rare Story
- OR -
Sign Up For Our Patient Panel
Make a difference, share your experiences and get paid. Opt-in and join Patient Worthy's panel for paid opportunities such as surveys, market research, patient advisory panels and more.
Make a difference, share your experiences and get paid. Opt-in and join Patient Worthy's panel for paid opportunities such as surveys, market research, patient advisory panels and more.