9 posts tagged “alkaptonuria”

“We are the ones that know what is required to give us the care we deserve” — Member Ann shares her story for Rare Disease Day

Posted February 29th, 2016 by

 February 29 only comes around every four years – and this year, it’s extra special: Today marks the 9th annual Rare Disease Day. In the United States, a disease is considered rare if it affects less than 200,000 people at any given time.

This year’s theme is all about elevating the patient voice, so we caught up with member Ann (annpkerrigan) to learn more about what it’s like to live with alkaptonuria (AKU), a rare disease that affects 159 PatientsLikeMe members. Here’s what she had to say…

How would you describe AKU to someone who has never heard of it?

I suffer from AKU, which is a rare genetic disease with no cure or treatment but not fatal. This is what I was told six years ago when diagnosed after many years attempting to identify my condition. AKU is a metabolic disease, which causes severe early-onset osteoarthritis. It can be a painful and degenerative disease.

Over the years, I’ve learned to adapt and make changes to my home. I live alone and it’s crucial I can manage everything. Prior to diagnosis my knees were very painful so I moved to a ground floor apartment in Bristol to be closer to work and because using stairs became impossible. My GP referred an occupational therapist to assess my home and she provided equipment to help, like a sock aid and a long-handled comb. She also authorized the council to install a wet room, which provided safety and independence. When my shoulders deteriorated it became painful to change gears when driving so I was able to get an automatic car through the Motability scheme in the UK.

How has your life changed since your diagnosis?

A major problem was washing my hair because I was unable to hold my arms up for any length of time, so I’ve been going to a hairdresser weekly for years. I’ve also lost three inches in height because my spine’s compressed. I’m only five feet now, so I’ve had shelves lowered in my flat and I’m currently saving to adapt my kitchen.

As for work and social life, everything’s changed. I haven’t worked since diagnosis, which coincided with redundancy because of my disease escalating. I contacted The AKU Society in February 2010 and was invited for three days to undergo tests to aid research and to help me. The trip was wonderful because I met experts who understood my disease and I no longer felt isolated. The tests revealed a lesion on my chest and I was referred for a CT scan, which identified a 9cm tumor tucked underneath my breast bone – beside my lungs and heart – which had to be removed. I wasn’t symptomatic and it was thanks to Liverpool this was identified!

The main problem I face is financial. Having left work at 50 I’ve lost a good income and standard of living. I’ve also spent my redundancy on emergencies like a new washing machine, refrigerator and to supplement my income, and have lost 15 years of pension contributions. However, the worst part is knowing there’s no cure, and trying to come to terms with it.

However, the AKU Society’s been brilliant, as has peer support, and I’ve been surgery-free for more than two years. But moving forward, I’m having a right hip replacement in March and carpal tunnel surgery in May. My social life is very different now because there are activities I can’t participate in, and although I’ve always loved to travel this is also difficult now. Essentially, my life has completely changed and while I try to remain positive and independent I sometimes suffer from depression.

What changes do you think need to happen in society to raise awareness about rare diseases like AKU?

AKU is largely an invisible disability – patients look perfectly normal on the outside. I have a blue badge for parking because I need the extra space to get my legs out of the car, and because I have a problem walking, but I’ve been shouted at for parking in a disabled space because I don’t fit the stereotype. So I’d like to see a campaign to highlight the difficulties of invisible disabilities. The government hasn’t helped either because they’ve targeted vulnerable groups in society and labeled the disabled as fraudsters. Families of AKU patients need support, too, and could help each other if a group was established or a forum available.

How can healthcare become more compassionate towards patients with rare diseases?

I’d like to see every newly diagnosed patient given counseling and have an AKU buddy for peer support.

Rare diseases like AKU are known as orphan diseases because they affect a small percentage of the population. As a result, they lack funding and largely remain unknown to government, medical practitioners and the general public. I would love to see a campaign to educate government, medical practitioners and the general public about invisible disabilities and rare diseases. I’ve been involved in teaching third year medical students for the last three years so that they’ll know how to identity AKU earlier and to think outside the box!  Medical practitioners need to listen to their patients and if a patient reports something that doesn’t easily fit a diagnosis, this could be the red flag pointing to a rare condition.

I think patients will start to receive better care once doctors listen and respond quickly, which will come about through teaching, improved resources, funding and changing the mind sets of the public and government. I’d also like to see more partnerships between patients with rare diseases, medical practitioners and government because we are the ones that know what is required to give us the care we deserve. Therefore, we need to educate and inform all the key stakeholders so that they too will become advocates.

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1http://www.rarediseaseday.org/article/what-is-a-rare-disease


Day-by-day, hand-in-hand

Posted February 28th, 2015 by


All around the world, everyone impacted by a rare disease is taking everything day-by-day. But they can take each day hand-in-hand with the help and support of others. Today, on Rare Disease Day (RDD), EURORDIS (Rare Diseases Europe) and its global partners are calling on everyone to lend a hand to anyone affected by a rare disease.

RDD’s international theme is “Living with a rare disease” because every patient’s story and needs are different, and only by sharing our experiences and raising awareness can we all hope to improve the lives of those living with a rare disease. It’s also about the million of parents, siblings, grandparents, aunts, uncles, cousins and friends that are impacted and who are living day-by-day, hand-in-hand with rare disease patients.1

Check out the official video below:

According to the Global Genes Project, there are 350 million people living with a rare disease around the globe. Just how many is that? If you gathered those people into one country, it would be the third most-populous country in the world. There are more than 7,000 identified rare diseases, from skin conditions to progressive neurological disorders, and more are being discovered every day.2 Here’s how you can get involved in spreading the word:

Rare diseases have a personal connection with PatientsLikeMe – our co-founders’ brother, Stephen, was diagnosed with ALS in 1998, and their family’s experiences with the condition led to the beginning of PatientsLikeMe. In 2012, we partnered with the Global Genes Project to create the RARE Open Registry Project to help those diagnosed find others like them in one of the over 400 rare disease communities on the site, and launched the first open registry for people with alkaptonuria (AKU) with the AKU Society in early 2013. We also accelerated our focus on enhancing the idiopathic pulmonary fibrosis (IPF) community through a collaboration with Boehringer Ingelheim. And now, the IPF community on PatientsLikeMe is the largest open registry with more than 3,700 members …and counting.

Share this post on Twitter and help spread the word for rare diseases.


1 http://www.rarediseaseday.org/article/theme-of-the-year-living-with-a-rare-disease

2 http://globalgenes.org/rare-diseases-facts-statistics/


Uniting for hope on Rare Disease Day 2014

Posted February 28th, 2014 by

hopeToday, healthcare professionals, research advocates and many people living with rare conditions are coming together to observe Rare Disease Day. It’s all about raising awareness for rare and genetic diseases, improving access to treatments and learning more about what exactly makes a condition rare.

In the United States, a disease is considered rare if it affects less than 200,000 people at any given time. Rare diseases affect almost 1 in 10 Americans, and many times, they cause common symptoms that can be mistaken for other conditions.1

 

All across the world, people are raising awareness for rare disease. Here are just a few things you can do to join them.

  • Wear your favorite pair of jeans today to help the Global Genes Project promote the Blue Denim Genes Ribbon
  • Use the hashtags #CareAboutRare and #WRDD2014 and share them with @GlobalGenes on Twitter and Facebook
  • Find an event in your state and participate in local activities
  • Print out this flyer, take a photo of yourself with it, and submit it to Handprints Across America

Rare diseases have a personal connection with PatientsLikeMe – our co-founders’ brother, Stephen, was diagnosed with ALS (Lou Gehrig’s Disease) in 1998, and their family’s experiences with the condition led to the beginning of PatientsLikeMe. In 2012, we partnered with  the Global Genes Project  to create the RARE Open Registry Project to help those diagnosed find others like them in one of the over 400 rare disease communities on the site, and  launched the first open registry for people with alkaptonuria (AKU) with the AKU Society in early 2013. We also accelerated our focus on enhancing the idiopathic pulmonary fibrosis (IPF) community through a collaboration with Boehringer Ingelheim. And now, the IPF community on PatientsLikeMe is the largest open registry with close to 1,900 members …and counting.


1 http://rarediseaseday.us/about/


Living with hope – An interview on AKU with Alycia and Nate

Posted January 27th, 2014 by

We’ve had the pleasure of talking with and featuring many PatientsLikeMe members on the blog over the years, but Nate is the youngest by far. He’s just 5 years old and is living with Alkaptonuria (AKU), a rare metabolic disease, sometimes called Black Bone Disease. Recently, we had the chance to chat with his mom, Alycia, who spoke with us about Nate’s experiences with AKU and her role and philosophy as his caregiver.

To get started, what would you like everyone to know about your son?

My son is an extremely happy and energetic 5 year old. He has recently started school and loves playing sport. His favourite sports are cricket and Australian Rules Football. He has a younger brother who he loves getting into mischief with. He also has a rare Metabolic disease called Alkaptonuria. However, we have chosen not to tell him about his disease at this stage.

Do you remember what the first sign or symptom was? And can you talk a little about the diagnosis process?

The only symptoms he had were black urine and dark ear wax. We never really thought much about his dark urine because we only noticed it when he had accidents during toilet training and as he is our first child we didn’t know any better. When Nate was 3 he was hospitalised with post infectious glomerulonephritis. About 6 months later his kidneys had recovered but his test results were still not normal. With further investigations he was diagnosed with Alkaptonuria. Now the unusual urine stains make sense.

Can you tell us a little about your day-to-day experiences as a caregiver?

Due to the slow progression of Alkaptonuria, caring for Nate on a day to day basis really isn’t much different than for any other mum. The only things I do are to ensure that his ears don’t have any visible ear wax, as we’re very conscious of him being picked on. I also have to take him to a few extra medical appointments as he is under the care of the Metabolic team.

How has connecting to other caregivers, or others living with AKU, on PatientsLikeMe impacted you?

I was devastated when Nate was diagnosed with AKU and even more so when I found out how rare it was. I wanted to gather as much information as possible to help me understand and to help ease the way I felt. It wasn’t until I found the AKU Society in the UK and then PatientsLikeMe that it helped to alleviate some of those feelings. It’s been great to have a group of people who truly understand the disease and who you know will never judge you for any question you ask.

As a carer it’s my job to research as much as I can about AKU so when the time is right to tell Nate I can provide him with this information and he can connect with everyone on PatientsLikeMe himself. PatientsLikeMe has really had a positive impact on my life, at times it’s been comforting to know what potentially could happen to Nate and the quality of life he may have, but the benefits of having access to this site help outweigh some of these feelings.

If there was one thing you could tell everyone who is caring for someone living with AKU, what would that be?

Use all the resources out there like PatientsLikeMe and the AKU Society, which are amazing tools for reaching others who understand AKU better than anyone, fellow patients and carers, to research as much as you can about the disease. I believe that there is a potentially bright future for AKU patients if Nitisinone becomes available.

I also greatly believe if you’re a caregiver to a child with AKU, to let them be a child and let them have the childhood every child deserves and don’t weigh them down with their disease until you absolutely have to. Unfortunately the AKU will always be there.


As 2013 winds down… Part I

Posted December 27th, 2013 by

We wanted to take a quick look back and share how the PatientsLikeMe community has continued to change healthcare for good over the last year. Thousands of members added their voices to real-time research, all while providing support to one another and sharing about their personal health experiences. It really is a group effort, so a big shout out and thank you to everyone in the community.

Here are some highlights from 365 days of donating data, sharing experiences and learning more, together…

What were some of the hottest topics in the forums?

Who shared their story on the PatientsLikeMe blog?

More than 8,000 members donated their data to a PatientsLikeMe survey, including…

And close to 5,000 added their voices to our first ever Open Research Exchange questionnaires this year, including…

  • The Treatment Burden Questionnaire
  • The WHY STOP questionnaire on type 2 diabetes
  • A questionnaire on hypertension
  • The Perceived Medical Condition Self-Management Scale

As we move into 2014, we’re more confident than ever that the patient experience – your experience – will not only help everyone learn more about their conditions right now, but continue to change healthcare for good.


“I do not want your pity. I just want understanding.” An interview with alkaptonuria patient and PatientsLikeMe member Carolyn

Posted September 4th, 2013 by

Do you know what alkaptonuria (AKU) is? If you don’t, you’re not alone. AKU is a rare but devastating condition that causes severe, early onset osteoarthritis. It also causes cardiovascular problems, such as heart disease, kidney, bladder and prostate stones and other serious health complications.

AKU is so rare that it’s estimated to only affect about 100 people in the UK[1]. To help shine a spotlight and raise awareness, we’re talking with patients who have AKU and want to share their story with the community.

Say hello to Carolyn. She was diagnosed with AKU when she was only two years old. Carolyn recently took some time to talk with us about getting diagnosed, the daily challenges she faces and how connecting with others has affected her life. Check out what she has to share.

Can you tell us when you were diagnosed with AKU and a little bit about the process of finding a diagnosis?

Fortunately, I was diagnosed when I was about 2 years old. It was by chance in a way. My aunt noticed that my nappies were brown and mentioned it to my parents. On a visit to the pediatrician whilst my regular doctor was away and had someone fill in, one of my parents happened to mention the brown nappies just as we were about to leave. It just so happened that that doctor had recently learned about AKU. He knew right away what it could be. I was tested for AKU, as were my parents and other family members. I was then followed by Dr. Charles Scriver in Montreal who is well known for his contributions to inborn errors of metabolism. (I am actually in one of his books!)

On your PatientsLikeMe profile you mention you have a toddler. Can you talk about some of the daily challenges of living with AKU while raising a child?

There were concerns from the beginning of my pregnancy because my spine is fragile. Fortunately, I did extremely well during my pregnancy as I didn’t gain a lot of weight and I think the hormone, relaxin, helped with the prevention of a lot of back and joint pain. I did have to use a cane occasionally and I got a belly support band. While pregnant I researched as much as I could to find out about baby products that would make life easier and save stress on my body. We just tried to problem solve before issues would arise or as needed. My son was premature and very small so he was easy to care for a long time, and as he grew we adapted things, like raised the crib and carried him out to the car, rather than carry him in his car seat. We have always encouraged him to be more independent (ie. on stairs and getting in and out of the truck). When my son was still young, an Occupational Therapist came to the house but she wasn’t sure how to help me.

My son is now 2 ½ and I think my greatest challenge at times is the fatigue. I just try and get enough sleep every night. If my son needs to be lifted and someone is around I ask them to do it. If I have a lot of errands I try to leave my son with my parents and go out on my own. When he needs a hug or comforting I get down on his level rather than picking him up.

I am just entering my second trimester of my second pregnancy, so the past 2 months have been challenging with morning sickness and fatigue but I have had excellent support from my family. On bad days my parents would take my son to the park or on errands. It helps that he is their only grandchild and they adore him! I also now have some arthritis in the hips and that sometimes flares up but you just get on with it. Now that I am feeling better I am looking into prenatal yoga to help with my body and fatigue.

In some of your forum posts, you talk about getting acupuncture. How does that help you?

In December 2011 I jarred my right hip. There were many times when I could not weight bear, walking was a struggle or at times I simply couldn’t walk. I had a lot of pain. I tried for about 14 months to get it sorted with my Rheumatologist but unfortunately he wasn’t of much help. It was a very frustrating time. On my own I went to a physiotherapist. Success was limited and she said she could only help me so much. I then thought I would try acupuncture. What did I have to lose? Within 3 sessions of acupuncture and cupping the pain was gone and still 6 months later it has not returned. She said the ligaments were “jammed”, not moving as they should and she simply got them moving again. She also helped with my lower back pain and some shoulder pain.

What’s it been like connecting to others with AKU on PatientsLikeMe?

It’s been nice to connect with others on PatientsLikeMe. For years I didn’t know if what I was feeling at times was normal or not, if it was part of AKU. I find everyone is supportive and it is a place to be honest about how you are feeling, positive or negative. I like the forums to ask questions and to share things you may have not considered that may help make life easier or the pain more manageable. And people are always happy to share what works for them.

Many times in our interviews, we ask what someone thinks others who share their condition should know. But I’d like to ask instead, what’s one thing you think everyone who does not have AKU should know?

I found for a long time people, including close family members, didn’t get how bad the pain could be even with medical reports. It took a surgeon saying how bad my back was for my family members to realize that I was not exaggerating. I also try to tell friends that sometimes I can’t attend social functions because it’s a bad day (or time) and please don’t take it personally. For me AKU and the pain tend to come in peaks and valleys. I am not lazy. I have limitations. I am trying to accept them. I try to do as much as I can. Losing some of the independence I once had and valued or not being able to do the things I use to do is a very hard pill to swallow. My husband said because I look normal on the outside he sometimes forgets about my AKU and that I have chronic pain but he is reminded if he sees me limping or stooping. If you have been there for me on rough days you will never know how truly grateful I am. Lastly, I do not want your pity. I just want understanding.
If you’re living with AKU, find others just like you in our growing community on PatientsLikeMe. Learn what they’re doing to manage their condition with symptom and treatment reports, and share your own experience with a personal health profile or in the community forums.

Join PatientsLikeMe

 


[1] http://www.akusociety.org/what_is_aku


Raise Your Hands for Rare Disease Day

Posted February 28th, 2013 by

Today, February 28th, is Rare Disease Day, a worldwide event showing solidarity with rare disease patients and their families around the globe.  The theme for this year is “Raise and Join Your Hands,” and everyone is being asked to participate, whether you’re an individual, an office with 10 people or a public gathering with 1,000 people.

Here at PatientsLikeMe, we are taking part by raising our hands and sharing our group photo in solidarity with the campaign as well as all of our members living with rare diseases, which affect 1 in 10 people worldwide.  You are encouraged to submit your own photo here.

PatientsLikeMe Employees Raising Their Hands for Rare Disease Day 2013

Rare diseases are a special passion for PatientsLikeMe, as our company was started due to our founders’ experience with a rare disease called ALS (Lou Gehrig’s disease).  Since then, we’ve partnered with the Global Genes Project to form the RARE Open Registry Project to connect patients fighting rare diseases and help them share and learn.

“It’s terrifying to think you’re alone and manage your rare illness with a doctor who might not have ever seen another patient like you,” says PatientsLikeMe Co-Founder Jamie Heywood. “We will change that.”  Most recently, we launched the world’s first open registry for patients with alkaptonuria (AKU), the first genetic disease discovered.


A Brief History of AKU, the First Genetic Disease Discovered

Posted January 17th, 2013 by

Last week, we announced that we are creating the first open, global registry for alkaptonuria (AKU), in collaboration with the AKU Society.  You may not have heard of this extremely rare disease – which causes a severe, early-onset form of osteoarthritis – but it plays an important role in the history of genetic diseases.  In fact, AKU, which is estimated to affect 1 in 250,000 to 500,000 people, was the very first genetic disease identified in the scientific record.  Strangely, though, the scientific community failed to recognize this landmark discovery until much later.

The chemical structure of homogentistic acid (HGA), the substance that accumulates in the bodies of AKU patients at more than 2,000 times the normal rate due to a genetic mutation. Image courtesy of AKU Society.

In 1902, Sir Archibald Garrod, a British physician interested in childhood diseases, published a paper describing the hereditary nature of AKU in The Lancet.  After observing the frequent occurrence of AKU in siblings, Garrod came to believe that the condition was congenital and possibly hereditary.  Using chemical studies, he set out to disprove the existing theory that AKU was infectious – and succeeded. By 1908-1909, he’d expanded his radical notion of lifelong hereditary disease to other rare disorders: albinism, cystinuria and pentosuria.   In lectures and publications at the time, he became the first person to describe a human condition that followed Mendelian inheritance patterns, the first to propose the concept of recessive inheritance, and the first to mention the importance of consanguinity, or the genetic similarity of blood relatives who marry and reproduce.

As a result of these significant discoveries, Garrod (who passed away in 1936) is now considered the first human geneticist, as well as the father of “inborn errors of metabolism,” an expression he coined. Yet Garrod’s pioneering work was not appreciated during his lifetime.   Part of this may be due to the fact that the term “genetics” itself – as well as the principles behind it – had not yet been formulated when he was alive.  He was far ahead of his time.  According to a 2008 article published in the Journal of Inherited Metabolic Disorders, Garrod “can rightly be deemed one of the most profound intellectuals of the 20th century, whose bequests to science and medicine continue to increase in value.”

Despite over 100 years of study since Garrod’s 1902 publication, there is still no cure for AKU.  Through our new registry – which will bring together AKU patients from around the world, patients who may have never met another AKU patient like themselves – we hope to help both patients and researchers answer fundamental questions and accelerate research focused on this often painfully debilitating disease.   What we will discover, together?  Stay tuned.


Dronamraju K. Profiles in Genetics:  Archibald E. Garrod. Am J Hum Genet. 51:216-219, 1992.

Rosenberg LE.  Legacies of Garrod’s brilliance.  One hundred years—and counting. J Inherit Metab Dis. 2008 Oct; 31(5):574-9.


PatientsLikeMe and AKU Society to Develop World’s First Open Registry for Alkaptonuria Patients

Posted January 9th, 2013 by

Online Patient Network to Connect Patients With Rare Disease,
Create Valuable Data for Research

CAMBRIDGE, Mass. — January 9, 2013 — PatientsLikeMe and the AKU Society are working together to create the first open, global registry for patients with alkaptonuria (AKU), one of the world’s rarest diseases and the first genetic disease discovered. Nicknamed “black bone disease,” AKU leads to a condition that causes the bones and cartilage to become black and brittle. Through PatientsLikeMe.com, patients with AKU can now track their disease progression, connect with others who have the disease, and contribute health data to the registry’s real-time research platform.

AKU Society Chairman Nick Sireau says rare diseases affect millions of people worldwide, but questions about them are so costly for nonprofits to investigate that they remain largely unanswered. “More than 100 years after its discovery, we still don’t know exactly how many people have AKU, or what they are doing and experiencing. We’re excited to partner with PatientsLikeMe to help patients connect with each other and help researchers answer some of the most fundamental questions about rare diseases.”

PatientsLikeMe works with nonprofits to establish open registries for both rare and common diseases. With the AKU Society, the company will regularly gather data about AKU patients’ symptoms and daily lives to establish the most up-to-date source for new medical evidence about the disease.

PatientsLikeMe Co-Founder and Chairman Jamie Heywood says, “This open registry will give anyone—hospitals, pharmacies, providers, nonprofits and patients themselves—a real world view of where and how the disease affects people. This information is vital to deepen our collective understanding of AKU and to drive smarter action, more effective treatments and better patient outcomes.”

AKU has no cure and is estimated to affect one person in every 250,000-500,000. For more information visit http://www.patientslikeme.com/join/aku.

About The AKU Society
The AKU Society was founded in 2003 in Liverpool by AKU sufferer Bob Gregory and his doctor, Dr. Lakshminarayan Ranganath of the Royal Liverpool and Broadgreen University Hospitals. It was the first AKU charity in the world. It is patient-led and includes patients, relatives, medical experts and friends and carers among its supporters. The society aims to locate AKU sufferers to offer them help and support, to raise awareness of AKU and to support research into its treatment. Its vision is to find a cure for AKU within the next decade. The AKU Society has established an influential multidisciplinary network, including representatives from numerous universities and hospitals, pharmaceutical companies and national AKU patient groups in Europe, the Middle East, Asia and North America. The society has also funded two research programs into AKU and the first AKU information center. Visit us at www.akusociety.org or follow us on Twitter or Facebook.

About PatientsLikeMe
PatientsLikeMe is a patient network that helps improve lives and a real-time research platform that advances medicine. Through the network, patients connect with others who have the same disease or condition and track and share their own experiences. In the process, they generate data about the real-world nature of disease that help researchers, pharmaceutical companies, regulators, providers and nonprofits develop more effective products, services and care. PatientsLikeMe has become a trusted source for real-world disease information and a clinically robust resource that has published more than 25 peer-reviewed research studies. Visit us at www.patientslikeme.com or follow us via our blog, Twitter or Facebook.