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Uptake advocates for Rare Disease healthcare advancements: Rare Disease Day 2024

Every year, the Uptake Team actively participates in acknowledging Rare Disease Day, which is a global initiative dedicated to addressing the challenges faced by the 300,000,000 individuals worldwide living with a rare disease. This coordinated effort led by EURODIS and supported by over 65 national patient alliance organisations, serves as a catalyst for advancing advocacy efforts at local, national and international levels.

Rare Disease Day not only raises awareness among the general public but also encourages researchers and decision-makers to prioritise the unique needs of those affected by rare diseases. Throughout our team and among our independent healthcare consultants, we take pride in contributing meaningful work that supports patients affected by rare diseases.

In our commitment to support and champion the united efforts for Rare Disease Day awareness, Uptake advocates for our clients and the broader pharmaceutical industry to prioritise advancements in treatments that positively impact the lives of rare disease patients. Each of our team members have taken the opportunity to share posts on their LinkedIn pages, enabling Uptake to spotlight various rare diseases every day in February as part of the Uptake Rare Disease Day countdown. This campaign involves showcasing crucial statistics about the impact of their chosen rare disease on the quality of life for patients who are living with it, emphasising the significance of transforming healthcare outputs for those in need.

Discover more about Rare Disease Day and join the conversation on LinkedIn with #rarediseaseday.

If you would like support from Uptake’s Senior Healthcare Consultancy experts specialising in rare diseases, let’s connect for a discussion!

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Discover key insights into Uptake’s selected Rare Diseases

Throughout February, our team of healthcare consultancy experts are taking the time to contemplate their extensive experience in the pharmaceutical industry. They reflect on the pride and privilege they feel, having had the opportunity to assist our global pharmaceutical clients in becoming formidable forces for growth within the rare disease space, and have each chosen a rare disease they have worked on or one that personally resonates with them.

Explore the individual rare diseases our team have chosen to boost awareness of below and gain insights into what the diseases are, how they affect patients and discover key statistics that more people should be aware of.

Marketing Communications Director, Amelia Hutchins is raising awareness for Hutchinson-Gilford Progeria Syndrome:

Tragically, Progeria is a fatal genetic condition of ‘rapid-aging’ in children, which currently affects approximately 145 children across 50 countries. Despite significant physical changes in their young bodies, the extraordinary children living with Progeria are intelligent, courageous, and full of life. 

Without treatment, all children with Progeria die of the same heart disease that affects millions of normally aging adults (arteriosclerosis), but at an average age of just 14.5 years.  

Our own children are aged 11, 13, and 16, so this statistic really hits home for me, and I think of all the parents who are desperately hoping to win this cruel race against time. 

The Progeria Research Foundation (PRF) was established in 1999 with the ambition to win this real race against time and find treatments and a cure. Since that time, PRF has been the driving force behind the Progeria gene discovery and the first-ever Progeria drug treatment, and they hope that Progeria treatment discoveries may also help millions of people with heart disease and the entire aging population. 

View Amelia’s post on LinkedIn here and share with your connections to support Uptake in raising awareness for this disease.

Source: https://www.progeriaresearch.org

Managing Director, Maxine Smith is raising awareness for Ehlers-Danlos Syndrome:

I have chosen to raise awareness of Ehlers-Danlos Syndrome. Many of us will never have heard anything about Ehlers-Danlos Syndrome (EDS) and hypermobility spectrum disorders (HSD) and the perpetuating myths surrounding these conditions make it harder for patients and families to be taken seriously.  

  • The Ehlers-Danlos syndromes are ‘just stretchy skin.’  
  • EDS and HSD is ‘just being a bit bendy.’  
  • EDS and HSD don’t cause pain.  
  • ‘You don’t look like someone who has EDS or HSD.’ 

All of these myths add to the joint pain, muscle pain, visceral pain, neuralgia, fatigue, joint instability, abnormal scarring, hernias, organ prolapse and more that EDD and HSD sufferers can experience. A friend of my family has been wrestling with this condition for most of her adult life, encountering public and clinical ignorance, treatment barriers and societal isolation.  Her management is driven by the ‘whack a mole’ principle of trying to find a treatment for each symptom as it emerges.   

Fortunately, research is ongoing. Critically there is research to identify the genetic markers which would drive a potential diagnostic test, lessening the wait and tortuous journey for a clear diagnosis. Other priority research areas include pain management and coping strategies.  However this is just one of many, many rare diseases that needs more focus, attention and investment.  This is what makes Rare Disease Day so important.  

View Max’ post on LinkedIn here and share with your connections to support Uptake in raising awareness for this disease.

Source: https://www.ehlers-danlos.com/ https://www.ehlers-danlos.org/research/  

Digital Marketing Manager, Connor King is raising awareness for Cystic Fibrosis:

We are raising awareness of 29 rare diseases this month and I have chosen to advocate for increased awareness for Cystic Fibrosis. 

Cystic Fibrosis is a genetic disorder that primarily impacts the respiratory and digestive systems, causing thick mucus to clog airways and impair digestion. Patients who live with Cystic Fibrosis experience symptoms such as difficulty breathing, constant coughing and nutritional challenges. The reality is daunting, but awareness can be the light needed to foster empathy and understanding, to fuel research which can lead to innovative treatments and an improved quality of life for CF patients.  

Recent research has shown that 86% of the public don’t know that those with CF cannot meet each other in person due to the risk of passing on potentially deadly infections.   

Despite being a lifelong challenge, often diagnosed in early childhood, advancements in medical research offer hope. By championing awareness in the pharmaceutical industry, we can pave the way for more breakthroughs, better therapies, and ultimately positively impact patients’ lives.  

Every share. Every conversation. Contributes to building a supportive community. 

Read the stories of Cystic Fibrosis patients’ day to day experiences and be inspired to make a transformative difference. Source: https://cysticfibrosis.org.uk  

View Connor’s post on LinkedIn here and share with your connections to support Uptake in raising awareness for this disease.

Consultant, Eve Tullet is raising awareness for PKU:

I have elected to raise awareness of Phenylketonuria (PKU), a rare inherited but treatable metabolic condition.

People with PKU are missing an enzyme, meaning they can’t break down the amino acid phenylalanine, found in protein. As a result, harmful levels of phenylalanine can build up in the blood and brain, with the potential to lead to brain damage if untreated.

PKU is 1 of 9 rare conditions that are diagnosed by newborn blood spot screening (the ‘heel prick test’), offered in the UK to babies at around 5 days old. It is inherited when both the mother and father are carriers of the PKU gene.

With early diagnosis, good dietary treatment and control of phenylalanine levels, most children with PKU are able to live healthy lives.

Treatment for PKU is lifelong and includes a low protein diet, taking an amino acid supplement and regular blood tests to monitor the levels of phenylalanine in the blood. Important research to identify new PKU treatments is ongoing.

View Eve’s post on LinkedIn here and share with your connections to support Uptake in raising awareness for this disease.

Sources:

https://www.nhs.uk/conditions/phenylketonuria/

https://nspku.org/about-pku/

Creative Design Manager, Alyx Barrett is raising awareness for Creutzfeldt-Jakob disease:

The disease I’m raising awareness for is Creutzfeldt-Jakob Disease.

CJD (Creutzfeldt-Jakob Disease) is a rare illness and is one of a group of diseases called prion diseases, which affect humans and animals alike. Prion diseases exist in many different forms, all of which are progressive, currently untreatable and ultimately fatal. They’re named ‘prion disease’ because they are associated with an alteration (or ‘misfolding’) in a naturally occurring protein: the prion protein.

CJD was first described in 1920 with the most common form being sporadic CJD which occurs worldwide causing around 1-2 deaths per million population per year. A new form of CJD (variant CJD) linked to bovine spongiform encephalopathy (BSE) in cattle was identified in 1996. There are also genetic forms of human prion disease linked to mutations of the prion protein gene and cases caused by infection via medical or surgical treatments (iatrogenic CJD).

The National CJD Research & Surveillance Unit (NCJDRSU, formerly NCJDSU) is one organisation currently dedicated to CJD in the UK. The unfortunately rather alarming statistics for CJD highlight the importance of stronger collaborations needed between pharma industry professionals and patient groups to work towards truly making a difference to patient lives and hopefully one day being able to cure this disease.

View Alyx’ post on LinkedIn here and share with your connections to support Uptake in raising awareness for this disease.

Source: https://www.cjd.ed.ac.uk

Senior Principal, Natalie Dale is raising awareness for Myalgic Encephaloemyelitis:

I wanted to raise awareness of a condition close to my heart, myalgic encephaloemyelitis (also called chronic fatigue syndrome or ME). 

My cousin was diagnosed as a teenager, a time where I never appreciated the freedoms that I had of going out with friends, playing sports or even going for a walk, while my cousin was mainly bed ridden locked in a prison of continuous fatigue. On her good days she is able to get out of bed and put on a brave face but many days she is isolated with no visible signs of her condition.   

ME has robbed her and the rest of the 0.2% of the population affected by this invisible disease.   

With many invisible diseases, it does not receive the recognition, awareness or funding that it deserves. 

Action for m-e is a UK patient organisation with a mission to empowering people with M.E. to fulfil their potential and secure the care and support they need, while working towards a greater understanding of the illness and ultimately a cure.  They are a member of the World ME alliance who are driving policy change at national and global level with the WHO. 

View Natalie’s post on LinkedIn here and share with your connections to support Uptake in raising awareness for this disease.

Sources:  

https://www.meresearch.org.uk/how-many-people-have-mecfs/#:~:text=Furthermore%2C%20the%

20estimated%20minimum%20prevalence,

however%20defined)%20in%20the%20UK  

https://www.actionforme.org.uk/get-information/about-us/what-we-do/ 

https://worldmealliance.org/ 

Senior Principal, Alexandra Fulford is raising awareness for Churg-Strauss Syndrome disease:

As an autoimmune patient advocate I will be focusing on rare autoimmune diseases, starting with Eosinophilic granulomatosis with polyangiitis (EGPA).

EGPA, previously known as Churg-Strauss Syndrome, is an extremely rare autoimmune vasculitis that affects 10.7 to 14 per million adults worldwide, and an estimate 70 to 940 individuals could be living with EGPA in the UK. EGPA causes inflammation within small blood vessels, which can cause organ damage and be fatal if left untreated.

Like many autoimmune diseases, rare or not, there can be significant delays in diagnosis and it is often misdiagnosed. One of the first symptoms is often adult onset asthma. As the disease starts to impact other organs, such as the skin or nervous system, other symptoms appear but are often not linked together. It is not uncommon for patients to bounce from specialist to specialist, each looking only at their own area of speciality and none of them connecting the dots.

This was certainly my mother’s experience. Her first symptom was asthma and she was prescribed an inhaler. As the disease worsened other symptoms manifested – she developed a rash, she started experiencing pins and needles regularly, she lost her appetite.  She saw various physicians and specialists who each attempted to treat a single symptom.

My mother’s story with a rare autoimmune disease is sadly far too common. We need more research, more medical education and more awareness to help reduce the delays and impact of diagnosis, and identify better options for patients. This is why rare disease day is so important – it is an opportunity to share and learn.

Read more about Alexandra’s story on her LinkedIn here and share with your connections to support Uptake in raising awareness for this disease.

Source: https://www.ncbi.nlm.nih.gov/books/NBK537099/

Junior Consultant, Emily West is raising awareness for G6PC3 deficiency:

I have elected to raise awareness for G6PC3 deficiency, which affects just 1 in a million people. 

This rare and devastating condition can be fatal if left untreated, as it causes neutropenia which severely weakens the immune system, and also has an impact on cardiac and pulmonary function.  

Another comorbidity G6PC3 deficient patients face is less recognised but commonly observed in clinical settings: Inflammatory Bowel Disease (IBD). As a committed Crohn’s and Colitis patient advocate myself, I have interacted with IBD patients all over the UK and partaken in research studies to ensure the diversity of Crohn’s patients’ experiences are considered.  

I am particularly moved by these three unique challenges that specifically G6PC3 deficient IBD patients endure: 

  1. Being resistant to innovative treatments e.g. biologics and steroids that have helped me & the other patients I interact with  
  1. Experiencing even more complex co-morbidities, as the gene mutation makes patients more susceptible to infection and affects cardiac and urogenital functions 
  1. Lacking the level of support and shared experiences that myself and my peers’ cherish within the broader IBD community  

In a glimmer of hope, 4 inspiring children with this rare disease have reached IBD remission through bone marrow transplants, with 3 of these remaining in remission 3-4 years post treatment.  

IBD can be an isolating condition for everyone affected. Knowing how isolating living with Crohn’s can be, I can only imagine experiencing this as a result of a rare disease is even more so, due to the lack of knowledge about rare diseases, and the smaller number of fellow patients to share experiences with. This is why I’ve chosen to shine a light on G6PC3 deficiency. 

View Emily’s post on LinkedIn here and share with your connections to support Uptake in raising awareness for this disease.

Sources: 

https://www.manchester.ac.uk/discover/news/cure-found-for-rare-form-of-inflammatory-bowel-disease/  

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6930000/#:~:text

=IBD%2Dlike%20colitis%20has%20been,of%20patients%20with%20

G6PC3%20deficiency.&text=Patients%20present%20with%20Crohn’s

%2Dlike,and%20severe%20oral%20aphthous%20ulceration 

Copy Editor and Operations Manager, Belinda Blakeney is raising awareness for Harlequin Ichthyosis disease:

I’ve chosen to advocate for increased awareness of Harlequin Ichthyosis.

Harlequin Ichthyosis is an exceedingly rare and severe genetic skin disorder, with approximately five cases reported in the UK annually, and some may be stillborn. Affected infants are often born prematurely, requiring immediate care in neonatal special care units. Their skin, covered with thick plates that crack and distort facial features, poses significant challenges to feeding and breathing, leaving them susceptible to infections.

Treatment involves skin creams and, in some cases, retinoid medication to shed the scale plates, though survivors may face ongoing skin inflammation and scarring, necessitating intensive care, including physiotherapy and counselling.

Caused by mutations in the ABCA12 gene, Harlequin Ichthyosis presents challenges in early diagnosis, although prenatal testing offers hope for early recognition and management. While the disorder cannot be prevented, advancements in preimplantation diagnosis may offer potential solutions for affected families. There are families with one or more children with Harlequin Ichthyosis who live happy and relatively normal lives, despite the condition.

View Belinda’s post on LinkedIn here and share with your connections to support Uptake in raising awareness for this disease.

Sources:
Ichthyosis Support Group
https://www.ichthyosis.org.uk/Pages/FAQs/Category/what-is-ichthyosis
https://rarediseases.org/rare-diseases/ichthyosis-harlequin-type/

Senior Finance and Operations Co-ordinator, Sophie Franks is raising awareness for Spinal Muscular Atrophy (SMA):

I am proud to be raising awareness for SMA, a rare disease that is close to me.

Our family has been rocked by the effects of Type I Spinal Muscular Atrophy (SMA) which is the most severe form. It is a genetic disorder that affects motor neurons, causing muscle weakness and atrophy. Mobility is severely impacted and can be life threatening.

The diagnosis of Type I SMA causes considerable emotional stress. Parents often face uncertainty and anxiety about their child’s future health and abilities. Hospitals and charities such as Spinal Muscular Atrophy UK provide essential information and emotional support. Genetic counselling is also available, helping families understand SMA’s genetic basis and the recurrence risks. Both parents carry the faulty gene so not only is there child suffering, any future child has a 25% risk of the same, the emotional impact for parents and surrounding family is enormous.

Treatments have only been available in the past few years, halting disease progression and improving prognoses. Survival rates in SMA patients are now increasing but early diagnosis is key.

Our family member sadly lost their 4-month-old daughter in 2019, diagnosis was made too late for any treatment to be possible. They are advocating for screening to be brought in for all infants in the UK to get early access to treatments and improve outcomes for all sufferers.

View Sophie’s post on LinkedIn here and share with your connections to support Uptake in raising awareness for this disease.

Source: Spinal Muscular Atrophy UK – SMA Charity (smauk.org.uk)

Head of Growth and Innovation – Partner, Melissa Dagless is raising awareness for Infantile-onset Pompe disease:

I’ve chosen to advocate for increased awareness of Infantile-onset Pompe disease.

This is amazing!
Meet Ayla, a little girl who had infantile-onset Pompe disease that was treated in the womb. https://lnkd.in/e5P-2ypw

Infantile-onset Pompe disease affects 1 in 138,000 patients that if left untreated can cause the baby to die before they reach their 2nd birthday.

As Rare Disease Day is coming up (one of the hardest but most fulfilling areas to work in) I have been reflecting on amazing progress in the field.

There are over 7,000 rare diseases in the world and there is so much more to do. However thanks to the commitment and dedication of families, patient organisations, doctors, nurses, researchers (both in and out of the Pharma industry) I believe passionately we’ll get there. #togetherstronger

View Melissa’s post on LinkedIn here and share with your connections to support Uptake in raising awareness for this disease.

Source:
https://www.sciencenews.org/article/child-treated-rare-genetic-disease-womb

Consultant, Emma Phillips is raising awareness for Adrenocortical Carcinoma:

I am proud to be raising awareness for Adrenocortical Carcinoma.

Adrenocortical carcinoma is a rare type of cancer that affects the adrenal glands, specifically the adrenal cortex. Only about 1 person out of 1 million is diagnosed with the condition. Though it affects both children and adults, the average age of onset is 46, and it is more common in females than males.

In healthy people, the adrenal cortex produces a variety of hormones, including cortisol, testosterone, aldosterone and oestrogen. These hormones help regulate blood pressure levels, responses to stress, and metabolism, among other important functions.

When someone has adrenocortical carcinoma, a mutation causes the adrenal cortical cells to multiply uncontrollably, leading to the formation of a tumour. Adrenocortical tumours may produce too many adrenal hormones, which can lead to abnormal blood pressure or additional problems.

ACC can cause pain in the abdomen, high blood pressure, acne, overgrowth of hair, and voice deepening. Other symptoms of ACC are different for females and males, since it can change hormone levels.

Doctors don’t know why people develop adrenocortical carcinoma, but it’s more common among people who have certain inherited conditions, including mutations to the TP53 gene or IGF2 gene and ACC runs in families 50% of the time. There are currently no recommendations for how to prevent it.

Adrenocortical carcinoma is best treated by endocrinologists, endocrine oncology specialists, endocrine surgeons, and others who are familiar with this rare disease. Because it’s difficult to treat, seeing a coordinated group of specialists with specific expertise in this area may lead to better outcomes.

Unfortunately, most patients with metastatic disease have a poor overall prognosis. However, overall 5-year survival rates can be as high as 45%.

View Emma’s post on LinkedIn here and share with your connections to support Uptake in raising awareness for this disease.

Junior Analyst, Matt Schofield is raising awareness for Hippel-Lindau syndrome:

I am proud to be supporting Rare Disease Day which takes place on 29th February. Bringing awareness to rare diseases is something that Uptake does so well, and is therefore posting every day of February, each post highlighting a different rare disease. Today I will be raising awareness of Von Hippel-Lindau syndrome (VHL).

Von Hippel-Lindau syndrome is a hereditary condition associated with tumours arising in multiple organs. People with VHL also have an increased risk of developing clear cell renal cell carcinoma (ccRCC), which is a specific type of kidney cancer, as well as a type of tumour in the pancreas known as pancreatic neuroendocrine tumour (pNET). Tumours of the adrenal gland or pheochromocytoma can also develop, with a small number becoming metastatic, meaning they spread to other parts of the body.

It is estimated that about 1 in 30,000 people has VHL. About 10% of people with VHL do not have any family history of the condition. They have a de novo mutation, meaning a new mutation in the VHL gene not present in their parents.

View Matt’s post on LinkedIn here and share with your connections to support Uptake in raising awareness for this disease.

Source:
https://www.rarediseases.org

Senior Design Manager, Jack Moore is raising awareness for Friedreich’s Ataxia:

As part of Uptake’s support of Rare Disease Day 2024, celebrated on 29th February (the rarest day), I have chosen to raise awareness for Friedreich’s Ataxia (FA).

Friedreich’s Ataxia (FA) is a serious, progressive genetic disorder affecting the nerves, muscles, heart and pancreas. Symptoms include problems with balance and co-ordination, slurred speech, weakness in the legs leading to wheelchair use, abnormal curvature of the spine, vision and hearing loss, and thickening of the heart muscles.

In 2019, my friend Oli was diagnosed with Friedreich’s Ataxia (FA) and I have witnessed the devastating impact that it can have on the individuals and families living with this condition.

Last year I undertook a fundraising challenge for Ataxia UK – running 5km a day for 60 days, and across the world many families hold fundraisers like this to help fund vital research. Thankfully, scientists and researchers are doing incredible things to find a cure for FA Friedreich’s Ataxia Research Alliance (FARA) and there is promising progress being made…

Through increased awareness, a better understanding of the condition will lead to improved care and investment in this treatment.

View Jack’s post on LinkedIn here and share with your connections to support Uptake in raising awareness for this disease.

Sources:

https://www.nhs.uk/conditions/ataxia/symptoms/

https://investors.biogen.com/news-releases/news-release-details/chmp-issues-positive-opinion-biogens-skyclarysr-omaveloxolone

Senior Principal, Jon Crompton is raising awareness for Fabry disease:

The clue is in the name, rare diseases are rare, so spreading awareness is essential to ensure people are aware of these diseases, but so we can also reach small patient associations and work with them to help us form the narrative of our action plans, in addition to providing them with the hope they need. We have amazing individuals in this industry, fighting their corner.

I have chosen to raise awareness of Fabry Disease. 1 in 40,000 people are affected by Fabry disease, which is a rare genetic disorder that attacks multiple organs in the body including the small blood vessels, the heart, and the kidneys. Common symptoms include burning pain, difficulty sweating / managing heat or fever, rashes and skin lesions, as well as plus gastro discomfort and cramps.

Working in rare diseases is one of the most rewarding, yet emotional areas in pharma, requiring long term commitment. I have had the privilege of working on Fabry Disease projects, joining a team of passionate individuals on a quest to improve the quality of life for their patients. You become part of patient communities and they become part of yours.

Within the pharmaceutical industry it is our mission to positively impact patients’ lives, so it is more than important that we truly collaborate with patients to understand their experiences, which will support us in creating advancements in treatments, that can have a transformative impact on their lives.

View Jon’s post on LinkedIn here and share with your connections to support Uptake in raising awareness for this disease.

Source:
https://rarediseases.org/rare-diseases/fabry-disease/

Analyst, Jordan Forteath is raising awareness for Anaplastic thyroid cancer:

I have chosen to shine light on anaplastic thyroid cancer.

Anaplastic thyroid cancer, is a rare, highly aggressive malignant tumor, which is responsible for 2-3% of all thyroid gland abnormal and aggressive tissue growths. This cancer has very poor prognosis and continues to be one of the most deadly diseases worldwide. As well as high local invasion, anaplastic thyroid cancer can metastatically spread to regional lymph nodes and distant sites. Due to the aggressive nature of this type of cancer, the mortality is close to 100% and typically, patients already have metastatic disease by the time of diagnosis. However, recent advances in understanding the genetic and molecular pathogenesis of anaplastic thyroid cancer hold promise for targeted therapy for this disease.

Source:
https://lnkd.in/ekkVTThX

For more information / support, please visit:
https://lnkd.in/eMPrdvEr
https://lnkd.in/e8C3RCdH
https://lnkd.in/e4axpZcw
https://lnkd.in/eqhhxHhf

View Jordan’s post on LinkedIn here and share with your connections to support Uptake in raising awareness for this disease.

Senior Principal, Shannon te Roller is raising awareness for Multiple Myeloma:

Shining a spotlight on Multiple Myeloma: Losing my stepbrother, Arthur Haliday, to this disease at the age of 38, is a stark reminder of the approximately 117,077 lives are claimed annually by multiple myeloma worldwide.

I feel compelled to shed light on this cancer that affects plasma cells in the bone marrow. Detecting multiple myeloma early is challenging; often, it can go undetected until it reaches an advanced stage. In Arthur’s case, he had general fatigue and muscle weakness which was attributed to other ailments. Routine blood tests can help signs of this cancer earlier.

Other symptoms include:

– Bone pain, especially in the spine, chest, or hips.
Nausea and / or loss of appetite
-Constipation
-Mental fogginess or confusion
-Tiredness
-Infections
-Weight loss
-Weakness
-Thirst
-Needing to urinate often

He will always live on in our memories and through is two children, but talking about Arthur’s journey underscores the importance of awareness, early detection, and the ongoing battle against this complex cancer.

For more information on multiple myeloma diagnosis, please visit Cancer.net and Cancer.org.

Let us unite to honour those we have lost, support those currently fighting, and raise awareness about the nuances of multiple myeloma. 💙

View Shannon’s post on LinkedIn here and share with your connections to support Uptake in raising awareness for this disease.

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