Andy Jobson

Not so rare

Meet Tim. Tim is Tom’s little brother. From birth he had some health complications, but quickly recovered. However, like Tom he had trouble with his speech at the age of 2. The explanation? “He’s just like Tom.” Read more about brothers Tim and Tom on our blog and follow the patient journey and lengthy diagnosis

Duchenne muscular dystrophy

Duchenne muscular dystrophy is a devastating disease that we still don’t fully understand, and currently there is no cure. This article describes current and new treatment therapies as well as the many challenges scientists still face. https://lnkd.in/gYkEcuH

What is Cystic Fibrosis and how can we treat it?

Cystic fibrosis is a rare disease that causes damage to the respiratory, digestive and reproductive systems. Our recent article presents what is currently known about this disease as well as existing and future therapies. https://lnkd.in/gkMERE4

Not So Rare

Tom and Tim finally reach a diagnosis after finding genetic faults known as AGU. The doctor couldn’t tell them much more, so they were sent to a rare disease specialist for further consultations. For Tom and Tim, and their families, it’s been a long process to reach a clear diagnosis. Sadly, like many other rare

Not so Rare

In our #RareDisease patient journey, Tom and Tim are finally starting genetic testing to try and reach a diagnosis – read more about their journey and stay tuned to find out what happens. Read more >>

Not So Rare

This week we meet Tilly, Tom and Tim’s younger sister. She was born with no complications and breezed through her early years with good health. As she starts to grow though, you can see that Tilly looks different to her brothers. Read more about their journey so far on our blog: https://lnkd.in/dzd4_T8

Not so rare

Rare Disease Patients’ Journey: As Tom and Tim grow, more symptoms arise. Tom is struggling to keep up in class and not progressing academically at the same rate as his class mates. It’s also being noticed that Tim is struggling with his hearing. Read more about their journey so far on our blog: https://lnkd.in/dzd4_T8

Not so rare

A person living with a rare disease will have a full diagnosis of an average of 4.8 years. We’re following the journey of brothers Tim and Tom, who are at the beginning of their symptoms. Their story, as well as hundreds and thousands like them #NeedToBeHeard. Follow their journey here >> #NotSoRare

Not so rare

We want to share what it’s like to live with a #RareDisease and show how long it can take for a patient to get diagnosed. Follow our blog:https://lnkd.in/dzd4_T8 to read about Tom and how his symptoms develop over time. Our first post shares his parents’ concern about the initial symptoms in the first two years of

Not so rare

Did you know – Rare Diseases affect more than 350 million people worldwide? Today we will be supporting #RareDiseaseDay to help spread global awareness #notsoRARE #medcomm

Not so rare

Rare diseases are more common than you think – this #RareDiseaseDay let’s care for rare and help spread awareness #NotSoRare Read more >>

Not so rare

Let’s help increase understanding of the reality of #rarediseases #notsoRARE Read more >>

Not so rare

Today is #RareDiseaseDay. Did you know a patient will end up visiting several doctors before getting an accurate diagnosis? Let’s work together to heighten awareness #notsoRARE Engel PA, Bagal S, Broback M, Boice N. Physician and patient perceptions regarding physician training in rare diseases: The need for stronger educational initiatives for physicians. Journal of Rare

Not so rare

We’re launching a blog to illustrate the time it takes for a child to receive a diagnosis for a #raredisease Read more >>

Not so rare

Research into #rarediseases can save and change lives. On #RareDiseaseDay let’s have a common cause to help increase awareness. Engel PA, Bagal S, Broback M, Boice N. Physician and patient perceptions regarding physician training in rare diseases: The need for stronger educational initiatives for physicians. Journal of Rare Disorders, 2013; 1(2): 1-15

Upcoming Rare Disease Blog posts

In support of #RareDiseaseDay we are launching a series of blog posts to illustrate the length of time it takes for a child living with a rare disease to receive a diagnosis. The process will be reviewed, from the parent’s perspective looking at the initial symptoms and beyond. Follow the link to find out about