Sondra Butterworth, Psycho-social researcher and PhD student,
follows up her original guest blog: How social support improves quality of life for adults with rare genetic skin conditions: My story with Engagement through social support
If I had support, it would make going out and being involved in social things more accessible.
The aim of this research study is to explore the relationship between quality of life and social support for adults living with rare genetic skin conditions, and to gain a better understanding of the psycho-social needs of the wider rare disease community. Ultimately the hope is that this study will contribute to an improvement in care and support which is both person-centred and empowering.
There are increasing calls for public participation and engagement in practice and research initiatives. This has created a culture of collaboration between:
Triangulation - the dynamic triad
Different fields of practice will use different methods of engagement, however bringing together different approaches can result in producing outcomes which can strengthen the findings of a study or initiative. Triangulation or mixed-methods research is an approach which uses more than one kind of method in each study.
Using triangulation as a methodology may not always be to seek consensus about a given research question. This type of mixed methods designed can enable a study phenomenon to be viewed from different perspectives. It can provide the opportunity for the researchers to undertake multiple ways of analysing and interpreting different data sets. There are three main methods of triangulation that researchers and practitioners may consider:
This single study is a case study of adults living with rare genetic skin conditions and used triangulation by adopting a within study mixed-methods design. The rationale for this was to provide a more in-depth analysis of the study group, to strengthen the outcomes and contribute to the body of knowledge related to the psycho- social needs of the rare disease community.
A deeper understanding of community engagement
Convergence could be described as the point where different methods within the study identify complementary findings. Using a within-study triangulation methodology this study synthesized the findings from the literature review the on-line survey and interview data sets. The convergence of all the data sets identified that the role of the family strong theme. Providing family support to enable care givers to support the person living with the rare disease, can enable and empower individuals and families to become more involved in research and Public Participation Initiatives.
Powerful Story telling
The final stage of this study included eight semi-structured interviews of adults with rare genetic skin conditions. The participants were able to tell their very powerful stories and described their experiences of social isolation and the impact of the general lack of understanding about their rare conditions. One participant spoke very powerfully about her perception of feeling stigmatised. The theme of stigma had been identified in the first stage of this study: the literature review.
The stigma of being visibly different:
Many people living with the effects of a rare disease are challenged by having a physical disability: the addition of psycho-social challenges, may discourage them from engaging in research or health and social care initiatives. A deeper understanding of the support systems which are needed by the Rare Disease Community is an essential ingredient to enable empowerment and to facilitate successful engagement.
Before Sean was diagnosed and his health began to fail, he was a founder and an executive at a variety of international high technology companies. Sean is now channeling his tech skills in the creation of philanthropic ventures targeted to serving the rare disease community.
One of these ventures, called Rare Funding Team (www.rarefundingteam.com), matches rare disease organisations with digital marketing professionals. Sean observed that many patient organisations are fueled by passion and emotional energy but often lack financial and professional resources. Rare Funding Team provides a platform where critical partnerships can be made in areas of marketing communications, graphics, IT, management and law. Sean is open and ready to collaborate with others for the advancement of the rare disease community so watch this space...
Improving healthcare communications in rare disease and orphan drugs:
Patient community perspective - Benjamin James
1. Benjamin et al. (2017). Patient-Reported Outcome and Observer-Reported Outcome Assessment in Rare Disease Clinical Trials: An ISPOR COA Emerging Good Practices Task Force Report: https://www.valueinhealthjournal.com/article/S1098-3015(17)30264-4/pdf (accessed 10 January 2020
2. Alliance for Regenerative Medicine (2019). Getting Ready: Recommendations for Timely Access to Advanced Therapy Medicinal products (ATMPs) in Europe: http://alliancerm.org/wp-content/uploads/2019/07/ARM-Market-Access-Report-FINAL.pdf ( accessed 10 January 2020
3. Evaluate (2019). Orphan Drug Report 2019: https://www.evaluate.com/thought-leadership/pharma/evaluatepharma-orphan-drug-report-2019 ( accessed 10 January 2020
4. Lampert et al. (2016). Thirty Years of Orphan Drug Legislation and the Development of Drugs to Treat Rare Seizure Conditions: A Cross Sectional Analysis: https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0161660 ( accessed 10 January 2020)
5. Budych et al. (2012). How do patients with rare diseases experience the medical encounter? Exploring role behavior and its impact on patient–physician interaction: https://www.sciencedirect.com/science/article/pii/S0168851012000644?via%3Dihub ( accessed 10 January 2020)
6. AMICULUM (2014). Communication strategies for rare diseases: uncommon opportunities: https://www.comradis.biz/media/1002/communication-strategies-for-rare-diseases-comradis.pdf ( accessed 10 January 2020)
7. Blay et al. (2016). The value of research collaborations and consortia in rare cancers: https://www.sciencedirect.com/science/article/pii/S1098301517302644 ( accessed 10 January 2020)
8. Price et al. (2016). What Can Big Data Offer the Pharmacovigilance of Orphan Drugs? https://www.clinicaltherapeutics.com/article/S0149-2918(16)30847-5/pdf ( accessed 10 January 2020)
9. Polich et al. (2012). Rare disease patient groups as clinical researchers: https://www.sciencedirect.com/science/article/pii/S1359644611003357?via%3Dihub ( accessed 10 January 2020)
10. Hollak et al. (2011). Limitations of drug registires to evaluate orphan medicinal products for the treatment of lysosomal storage disorders: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3102605/pdf/1750-1172-6-16.pdf ( accessed 10 January 2020)
11. Giannuzzi et al. (2017). Orphan medicinal products in Europe and United States to cover needs of patients with rare diseases: an increased common effort is to be foreseen: https://ojrd.biomedcentral.com/articles/10.1186/s13023-017-0617-1 ( accessed 10 January 2020)
A conference for everyone
We sang together. We learned something new. We caught up with old friends and made new ones. There was fun and laughter. And serious discussion. There was play time for younger members (and some of the older “kids”, too!). There were good times – and even a few tears. Dancing? Yes, that happened too! The Albinism Fellowship’s “This is me” Conference was highly memorable and enjoyable for all the right reasons, writes Andrew Bennett, P.R. advisor for the Albinism Fellowship
This was us
Our members returned to Derbyshire for the third time in October for our latest Conference. While there wasn’t much sunshine during a packed weekend of activities, we received as warm a welcome as ever from the Hayes Conference team. And the venue near Alfreton proved to be perfect for a busy 48 hours of albinism.
Counting our speakers and conference exhibitors, there were over 200 delegates for This is Me. Long-time Albinism Fellowship members might correct me, but surely this is some sort of record?
But it wasn’t just about the overall numbers. In keeping with the title, This is Me was all about celebrating life with albinism and taking a positive approach.
So, as well as a sizeable contingent from our core membership base in the UK and Republic of Ireland, we welcome visitors from around the world, including the United States and France.
This was business
There were conference sessions to suit pretty much all tastes. This was my fifth conference and I’m still struck by the fact that there is always something new to learn about albinism and topics related to it.
If you wanted to meet other adults with albinism and discuss hot issues and life hacks, that was possible. For teenagers and adults, there was a guide to make up by No:7 - I’m told this can be a real issue for women with albinism.
Those who craved an adventurous activity had their wish fulfilled with a trip to Derbyshire Activity Centre and families and young people could try out the running line (specially designed for the visually impaired) or goal ball. We made it all happen.
Meanwhile, eye specialists and researchers Mr Jay Self and Dr Helena Lee hosted a medical session covering the basics of the causes of albinism. Experts from Guide Dogs talked about how to work with habilitation specialists to maximise the mobility of your child.
On the Saturday, Mike Hughes advised on Personal Independence Payment for adults with Albinism. And let’s not forget the work of our choirmaster Adam Knott in coaching all our singers over the weekend for the finale – a rendition of This is Me – at the end of the conference. Thanks, Adam!
Asma Bari and Precious Toe, meanwhile, staged a session called ‘Breaking down barriers’ which was a discussion around the challenges faced by people with albinism from different cultural backgrounds.
That’s just a flavour of the conference sessions. They were many, varied and well attended. If you like me, you were at the conference, I hope you got lots out of them.
This was fun
Fancy dress and dancing fans were well catered for on Friday night with our traditional Conference disco. And for those hungry for more dance floor action, the barn dance saw many of our delegates swinging through the steps (with or without Stetsons on).
This was personal
It was great that this year, our Conference attracted many first timers, both people with albinism themselves, and the parents of children with albinism.
Gareth Brydon, who works for Thomas Pocklington Trust, is an adult with albinism and one of those same first-time delegates.
“Over the two days I was amazed by the people I met, stories I heard, and things I learnt. Aside from the positive atmosphere, sense of community, and warmth throughout I was also struck by the power of albinism in bringing together people from across the world in rural Derbyshire to share with one another and stand up proudly to say; ‘This is Me!,” said Gareth.
“I’m already looking forward to the next conference in 2021 and hope to get more involved with the Fellowship generally. Thanks to all involved for an incredible weekend!”
Take a look at Gareth’s blog about his experiences at our 2019 Conference.
And this is my verdict
What was my view about This is Me? As the proud father of two girls with albinism and as someone who has been closely involved with the Albinism Fellowship for almost a decade (and my wife is a Trustee for the charity) it can be tricky at times to ‘see the wood from the trees’.
But what reminded me that what we and other albinism organisations do really does make a difference was the keynote speech.
Mike McGowan, head of the American albinism charity NOAH said that albinism was a factor that united people – never mind their ethnic background, country of origin, age or personal circumstances. Those with it all face the same challenges and can still achieve remarkable things in their lives.
Well said Mike; listening to your humble address about your 25 years working with the albinism community brought a lump to my throat and a tear to my eye. Which says it all.
For more information
If you would like to find out more about our conference sessions, take a look at our website https://www.albinism.org.uk/conference-2019/ Our next conference will be at the same venue in Derbyshire again in autumn 2021. If you would like more information about albinism itself, take a look at this link on our website https://www.albinism.org.uk/about-albinism/
Calum is 13 years old and his Mum Stacey describes him as "such a happy young man". He was undiagnosed for the first seven years of his life, but after he took part in the DDD (deciphering developmental disorders) study he received the diagnosis of CHAMP1 gene mutation, which is an ultra-rare genetic disease. Children with CHAMP1 have varying levels of functionality, the most recurrent symptoms include global developmental delay and severe speech delay or loss.
Calum is non verbal and uses various methods of communicating, such as his iPad and an app called Proloquo2go, which is personalised for Calum to be able to have a voice. He also uses makaton signs. His Mum say's for someone who is non verbal he is by far the loudest person you’ll ever meet!
He loves everything about Christmas, including of course Santa! So his Mum, Stacey, applied online through the Make a Wish website to see if they could make a dream come true for Calum to meet the big man himself in Lapland...his wish came true!
Stacey said when the wish granters came to the house they asked Calum what he wished for. Before the Make a Wish people arrived they had already programmed that he wished to go and see Santa in Lapland. The wish granters then asked him what he'd like to have for dinner with Santa, Calum looked in his food folder and asked for sweet and sour chicken, which made everyone chuckle.
After the adrenalin fun of the husky ride the search began for Santa. The family were taken on a hunt to find Santa visiting the homes of elves including Speedy Sam and Snowy Bowy. They even found Santa's Post Office which was filled with letters that had been posted by children all over the world, but still no Santa. The family headed back to the hotel for dinner, to warm up and rest before the search for Santa resumed tomorrow.
The next morning they headed out on snowmobiles to Wendy Wood's house, which included being in a sleigh whilst being pulled by snowmobiles. At the house they were met by elves who took them to see Mrs Claus. Stacey described how happy Calum was and how heartwarming it was to see how loving he was towards Mrs Claus. They were then led to a secret door and down a staircase to another secret door, on the other side stood Santa, Stacey describes, "The look on Calum's face was absolutely priceless!"
About CHAMP1 Research Foundation
Stacey and her family are now part of a global support group and there are only 57 known champs in the world. They have 53 of those families in their group. Calum is the only person in Scotland diagnosed with the condition. Stacey sits on the Board of Directors of the CHAMP1 Research Foundation that was set up by a family when they received their sons diagnosis: www.champ1foundation.org
Stacey initially crowd funded to make a website when Calum was diagnosed because at the time she said there was no information available online (this was before the foundation was set up): www.champ1gene.com
We can all fondly remember some of the best moments of our life — a wedding, graduation, or the birth of a child. I will never forget the feeling of meeting my twins Maxwell Norman and Riley James for the first time on 27 March 2017, in the wee hours of the morning. I didn’t know a human heart was capable of that much love. At that moment, my entire life’s focus became my family. I no longer cared about my career, current events, or even a really bad haircut. I would give my life unconditionally to protect them. My prayer to God, that they grow up to be healthy, happy and fulfilled members of society with every opportunity life can provide.
At around four months of age, we noticed that Maxwell wasn't progressing in his development at the same pace as Riley. Maxwell showed intent but could not use his hands and could barely move. It was so strange to watch this happy little boy unable to grasp a toy with little-to-no interest in exploring the world around him. Well-meaning friends and family would tell us that boys are slower than girls and every child develops at their own pace. We were reassured that everything would be fine, but my mother’s intuition was telling me a much different story. Riley's milestones became bittersweet as it felt like Maxwell was slipping away in my arms. I was helpless, frantic and suffocating with fear that something was terribly wrong with our dear baby boy.
This fear turned to sheer panic as doctors searched desperately for answers along with us. In June of 2018, my husband and I were led to a cold, sterile diagnosis room at Children’s Hospital where doctors confirmed the unspeakable. My worst fears were confirmed. Mark and I sat before a group of doctors with solemn faces. Genetic testing revealed that Maxwell had a rare neurological genetic disease with only 34 confirmed cases in the world.
It didn’t come from Mark or me, it just spontaneously occurred. It was called SLC6A1 and there was very little known about the condition.
SLC6A1 is a rare neurological disease that causes developmental delay, a movement disorder, speech ataxia and progresses into a debilitating form of epilepsy that is refractory to existing drugs. Doctors could not give us more details other than that because there were so few patients, no patient registry or studies done of the natural history of disease. We were given a five-page article written by a group located in Denmark and told that the hospital would be interested as we learned more about the condition.
The dreaded day we received the news that Maxwell was diagnosed with SLC6A1 was the worst day of my life. Mark and I sat at Children’s Hospital and listened to a never-ending list of things Maxwell would probably never do. I wanted to cover my ears and sing so I couldn’t hear the doctor’s words. The hope that every parent has for their children slowly trickled away. The dreams I had for Maxwell felt like they were slipping through my fingertips and I was totally helpless. The most unsettling realisation was that if anyone was going to help Maxwell, we had to do it by ourselves entirely. We had to create our own miracle.
I was not about to accept this nightmare for my son. I left my promising career in finance and cold-called 200 scientists from across the world over the course of three months to decipher the best path forward. I survived on four hours of sleep, coffee, and cold pizza. I have sent snacks via Uber Eats to researchers that wouldn’t return my calls until they felt compelled to thank me for the gifts. I have attended conference after conference, met with officials from the National Institute of Health, the Federal Drug Administration, and other government agencies. Through perseverance, determination and a self-admitted (albeit small) amount of craziness, I found a path forward.
Maxwell’s disease is due to one half of a gene not functioning correctly. Current technology exists to cure this disease via gene replacement therapy which could restore part or all of his neurological function. Gene replacement isn’t a daily drug, it is a once and done solution where a good copy of the gene replaces the bad copy of the gene. A group of scientists at the University of Texas Southwestern in Dallas were willing to test and develop the therapy that would not only help Maxwell, but every child with this condition. This research will also directly advance treatments in epilepsy, autism, and schizophrenia. My journey to help Maxwell has transcended my little family and we have the opportunity to impact a multitude.
The patient organisation, SLC6A1 Connect, must raise $4,000,000 to complete a clinical trial. The non-profit has already raised $1,000,000 in just one year. We are in a race against time and our goal is to develop a treatment within the next 18 months. The opportunities I long for Maxwell to have are now within arm’s reach.
In our situation, the only choice I was given was to spend countless hours becoming an expert in SLC6A1 and to spearhead the treatment myself. Maxwell doesn’t have time to wait for traditional science to develop a treatment on its own. We were left to bypass the pharmaceutical industry entirely and fund the research ourselves. Gene therapy is the hope for children with SLC6A1 and I am fully focused on progressing a Phase 1 clinical trial as quickly as possible.
I would never use luck and rare disease in the same sentence, however, SLC6A1 does have a silver lining. Our prevalence is much greater than originally thought. The disease is newly discovered and intuitively, you can’t be diagnosed with a disease that does not exist. SLC6A1 was added onto genetic testing panels around the time of Maxwell and Riley’s birth. Prior to that time, there was not a way to be diagnosed with the disease. With all of the light SLC6A1 Connect has shed on the disease, we now know that SLC6A1 is not as rare as we thought. The disease is the 10th leading cause of autism, 6th leading cause of epilepsy and plays a major role in many psychiatric disorders.
For more information
Last month, the National Organization for Rare DisordersⓇ (NORD) broke previous records with its 2019 Rare Diseases & Orphan Products Breakthrough Summit, welcoming over 900 registrants to two days of unforgettable keynotes, powerful panels, breakout sessions and networking in Washington, DC.
The NORD Summit is the largest and most innovative multi-stakeholder event of its kind, drawing together participants from across the rare disease community—including patient advocacy groups, government, industry and academia—to discuss the most current and urgent topics related to rare diseases and orphan products. The 2019 theme focused on why “The Time is Now” to drive innovation, collaboration, advocacy and research. These topics included perspectives from a diverse group of thought leaders.
There is No Time Like the Present – Inspiration to Action
The 2019 Summit kicked off the morning of Monday, October 21 with a greeting from NORD’s President and CEO, Peter L. Saltonstall, followed by an emotional Patient/Caregiver Opening Address, “There is No Time Like the Present – Inspiration to Action.” Speakers Terry Jo Bichell and Karen Aiach are mothers and rare disease warriors whose stories illustrated how families impacted by rare diseases are helping to drive progress in research, an increased understanding of diseases and the development of treatments.
Keynote speeches were informative and inspiring, with speakers including CDER’s Associate Director for Strategic Initiatives, Theresa Mullin, PhD and FDA Acting Director Ned Sharpless, MD. Tuesday morning marked an impassioned keynote speech delivered by Health and Human Services Secretary Alex Azar, the highest ranking government official ever to speak at a NORD Summit.
“Effective treatments are often hard to come by, requiring years of expensive maintenance therapies. When successful therapies are developed, they’re not cheap. We need to ensure that Americans who suffer from rare diseases have ways to finance their care–while also making sure that our financing system can support innovation toward the cures we need,” said Secretary Azar.
Health and Human Services Secretary Alex Azar speaking at the NORD Summit on October 22, 2019 (Photo courtesy of National Organization for Rare Disorders)
Other highlights from the Summit included panels featuring key opinion leaders, an NIH conversation on why it is a unique moment for rare disease research, a town hall with the three FDA Center Directors and an interactive dialogue with FDA senior staff.
Rebecca was born weighing 6lbs 3oz and as far as I knew then everything was fine. I'd had no problems during pregnancy and she arrived on her due date. Yet, straight away she was sick after every feed, didn’t gain weight and she was classed as failure to thrive. At eight weeks old she had her first appointment with a paediatrician, who she saw regularly. Rebecca had all sorts of tests done for allergies, celiacs disease, and many other things, but nothing was found.
When she was a toddler we even saw a geneticist, but after many months nothing was detected and that was the end of that.
She spent the first few years of her life in and out of hospital every few weeks. Picking up every infection going, including numerous gastrointestinal bugs, which often led her to become dehydrated, and so she was back in hospital on a drip each time. I came to know the hospital so well and after one particularly long stint, felt like I was scared to bring her home, it felt much safer there under constant medical supervision. As the years passed and she started school, apart from a fractured elbow from a fall off a trampoline when she was four, several bouts of tonsillitis and a few other infections, things did seem to settle a bit.
However, it became apparent that she was much smaller than her peers and didn’t grow very much. Clothes and shoes lasted her for a really long time and her little sister, Olivia, started to overtake her in height and weight, with clothes and shoes being passed down to Rebecca from Olivia instead of the other way around.
Olivia thankfully doesn’t suffer from the syndrome but does carry the gene, there’s potentially a 1.4 million chance she’d meet a man with the same gene and a 1 in 4 chance they’d have a baby with this syndrome.
At this point Rebecca still had not been diagnosed.
Fast forward to 2012 when I was pregnant with Adam. At first everything seemed fine and he was a real wriggler but towards the last couple of months of the pregnancy I felt he wasn’t growing much, but when I expressed my concerns I was assured he’s measuring as he should be and everything was fine. In the last six weeks of pregnancy I had pre-eclampsia and they monitored me closely. A week before my due date I went in for monitoring and they told me my blood pressure was sky high and they admitted me. A short time after admission they took me to critical care as my baby was in distress and I had an emergency C-section, Adam wasn’t breathing. He was born at just 5lbs 4oz and just a few hours later the nurses took him for blood tests.
For another three years we spent so much time in and out of hospital, just like Rebecca, Adam picked up every infection and bug. He had severe chicken pox at just four months old and his doctors said they’d never seen such a severe case in a young baby. He was hospitalised again for four days. On another occasion he was so poorly he spent 10 weeks in a lethargic and sad state. His normal.
Adam's personality is and always has been so happy, always laughing giggling and generally just smiling, through every illness, but this time, for ten weeks he just sat on the couch or lay on my shoulder. He never smiled in all that time, no laughing no crawling, it was truly heartbreaking. I wasn’t sure I’d ever get my laughing boy back again. He did eventually come out of whatever it was and got back to his happy self, but he didn’t gain weight very well and is much smaller than other children his age. He was so thin you could see his ribs clearly even now if he has no top on. He had a rash when he was three which eventually led to his diagnosis. It didn’t itch or bother him but it stayed for several weeks and it was only when a colleague of the geneticist mentioned it looked like a rash associated with Rothman-Thompson syndrome, that they delved into it further. As it turns out that syndrome overlapped with two others, one being RAPADILINO Syndrome!
With Adam's diagnosis in August 2015, Rebecca was then tested a few weeks later and was also diagnosed with RAPADILINO.
Belgium and my two children here in the UK as well as one other little girl in the UK. It appears that most cases can differ quite a bit from each other. I sadly know that many cases have had to deal with cancer and amputation of limbs, in particular the leg. It’s the worst part of this condition although the constant pain and discomfort is also heartbreaking to watch in your child. Pain relief helps to a point, but never seems to take it away completely.
Adam and Rebecca today
For my son, who is now seven, he suffers with pain in his legs but thankfully not all of the time. He has had two operations on his thumbs as he was born with both thumbs with no knuckles or muscle. He can now use them but not very well and they’re not very strong. He still largely uses his two main fingers to write and do buttons etc.
My daughter Rebecca turned 15 on 6 September, over the last few years she has suffered a broken coccyx bone and has been treated for a fractured knee, although later on this became apparent that it’s the way her knee joint has grown and it’s not actually fractured. Four years ago she had another episode of what we thought was a fractured knee and walked with crutches for about a month having a lot of pain in her knee and leg. This settled down and she was OK for a while apart from intermittent pain in her legs.
Ten months ago she started to suffer very badly again with her knees and legs to the point she couldn’t walk and was given crutches and very strong painkillers by the hospital. Unfortunately, this doesn’t appear to be an episode and doctors now believe this is the way it’s going to be for her permanently. She’s had to give up her dream of dancing and playing football and she’s suffered in other, more personal ways too.
It has affected her massively and she’s had a lot of time off school. She has fallen a few times when her knee has given way and she has to be physically picked up and helped back to the couch, she is distraught when this happens and questions us, asking if this is it for her now, and will she never be able to go back to doing normal things again? She puts on a good front for other people because she feels embarrassed and self conscious and isn’t good at showing people, even family, how she’s actually feeling and how much pain she’s in. Sometimes she gets really scared as she gets pains randomly, and not always in the same place. The pain is either in the back of her knees or legs but in recent weeks her arms have started to ache a lot and it worries her all the time. She’s on a lot of painkillers three to four times a day, every single day!
The chances are we will go through something similar in the future with Adam but at least we’ll know roughly what to expect.
I would like to be able to raise awareness of this syndrome. I am still hoping to find a medical professional I can speak with that has had direct dealings with this syndrome. Our consultant is wonderful, both he and the nurse are really supportive and always try to put our minds at rest when we see or speak to them, but the constant worry and fear is always there.
For further information
Danielle Drachmann talks to RARE Revolution about the condition idiopathic ketotic hypoglycemia, (the most frequent cause of hypoglycemia in children between one and five years of age) hypoglycemia can be a life-threatening event. This is a condition that she and her two children have, which has led to Danielle setting up the website Hypomom, a platform she uses to share stories from a family with hypoglycemia and offering tips and advice about living with this
But just like other rare disease parents out there, no one could have ever prepared me for what life had in store. I’d like to present to you two very different perspectives on motherhood. Before, and after the realisation that our ball of sunshine was a particularly special one!
My baby, Noah, had just had a rough night with lots of screaming and unease before he went to sleep, well what I thought was sleeping. I remember the student nurse standing with her blood sugar device, staring terrified at those two digits on the screen, her face turning ghoulishly white, before she proceeded to push the emergency button, and then she pulled my baby boy from my arms, sprinting out of the ward as if chased by a lion.
I flew up from my bed and rushed after the student nurse following her further into the hospital. In that moment I ceased to be a child, and my life as an adult began, forced by circumstance and necessity, into a journey I never thought I had the strength to live through.
Neonatal intensive care unit
Weeks later, after I had accepted Noah did suffer from a blood glucose related rare condition, I found myself in what felt like a different planet, attending the hospital ward with all the other very sick kids. I was juggling foreign words, hypoglycemia terms, the creaking sounds of breast pumps, alarms, crying parents and very sick newborns and glucose drops, while facing an army of doctors and nurses at what became known to me as the NICU.
I forgot it was difficult. I forgot I didn’t knew how to be a parent. I forgot I had to learn to navigate this new planet, with their foreign language and their hierarchical culture from scratch. I forgot I had had another life just a few days before I crashed down to this strange place, where I four years later, I find myself well-established in what is in fact a great life for me and my rare disease children.
The years of being a rare-disease-parent has taught me my biggest superpower: Trusting my gut and reaching for the right mentors and specialists. These people have all been willing to teach me everything Google and the library couldn’t, arming me with a special needs parents strongest weapon in the fight of protecting your child: Knowledge.
How I managed to let go
After the early years of childhood with my wonderful hypo-kids, one day I found myself sitting with Noah who had turned into this little human being with an actual personality, old enough to go to kindergarten and begin his first day in his life as a big boy.
Although every inch of my body wanted to embrace my children forever in our safe concrete bubble made from love, fear and delicious fat baby cheeks - the reality knocked on the door: Noah was starting in kindergarten, and he really needed it!
And to be honest, I did too. I needed to talk to grown-ups for a change, after singing “The Wheels On The Bus” for the 50th time in a day for four years, while also being tasked with handling everyday life, ambulances and seizures. Not an ideal cocktail for any new parent, and especially not for four years without breaks.
I faced my fears and wrote down what scared me the most. I came up with the following:
1. What if the staff forgets what to do, by the different blood glucose values?
2. What if the staff is so uncomfortable taking responsibility for him, they end up excluding him in order to protect him?
3. What if one of the kids ends up in a seizure, and they forget important info to the paramedics?
I mustered up all the courage in my body, picked up Noah and went to kindergarten - ready to tell them about my beloved child, who unfortunately came with a rare disease and special needs. We sat down, while Noah investigated the playground with all the other kids. The last thing I wanted was for my child to live a Dear Evan Hansen like reality, caged out from the rest of his peers.
What I witnessed in my son’s eyes when he was staring out into the playground was anything but frightful though. He was so excited about this place, new stuff and new kids. His excitement melted my heart, but I was also terrified of how much adrenaline and physical activity would be in store for him, so I was also fearful that it might trigger an incident.
After 20 minutes of explaining our situation and requirements for Noah, to the member of staff at his kindergarten, I drew in a deep breath, waiting for their response. After giving me an awkward glance, the kindergarten staffer noted the following: “So, he could end up brain damaged or worse in our custody, if we don’t discover he is in hypoglycemia?” Well, yes. That is in fact the case, and why I lay sleepless at night.
2 minutes later Noah ended up in hypoglycemia after an hour on the playground. My worst fear realised.
After stabilising him with juice and bread and having left the kindergarten, I cried. The staff had been terrified. And so was I. I considered the situation:
How would they ever be able to remember everything I told them of my child needs? To be honest, I myself have difficulty remembering everything when an emergency arises. I once I forgot Noah's social security number and could not remember if it was him or Savannah who reacted on Glucagon (and I’m their mother for goodness sake!).
If I can forget about life saving information about my kids emergency treatment, how could these strangers possibly be expected to?
The blood sugar guide
After that heart-wrecking day, I got an idea. I sat down and had a heart-to-heart conversation with my brother, Nick. He happens to be a classically trained graphic designer. After balling my eyes out for a while, I asked him if it was possible to produce some sort of easily accessible rare disease guide, to help kindergarten staffers navigate tough situations for special needs kids.
If I were to leave my kids in the hands of strangers, I needed the information in my head to be in a physical guide that I could trust anyone to follow. The first variation of the guide was sloppy, but with it, we ensured that we could provide the institutions a visual representation of how to react in any given scenario!
The guide helped us to move forward with new found enthusiasm. We feel like we’ve been able to give our two wonderful kids, the gift of childhood and the gift of friendship through their little buddies kindergarten and whatever lies ahead. We’re no longer terrified and on the verge of a nervous breakdown whenever we need the kids to be on their own, as long as we make sure the guide is handed over to whoever gets to look over our two wonderful balls of sunshine!
We feel safer than ever, and thanks to a combination of proper diet, a state of the art blood sugar guide and a loving online community, we can safely say that we’ve been on the journey of our lives, and each one of us in our little family are thankful for anywhere that fosters a safe space for parents of rare disease children.
Our hope is to open up this tool to include all rare disease children in the world. The guide is a tired but determined mom’s gift to anyone out there!
Thanks to years of work, we’ve finally acquired an understanding of how we should live a great life with ketotic hypoglycemia, which has been the underlying mission of Hypomom - to share everything we know, and show people out there, that you can live, and live well despite a rare diagnosis.
It took us a while to get here, but through many tests, trials and lots of lost nights of sleep, we’ve finally established a good understanding of our kids’ condition and special needs. We can’t quite claim victory on our own here though, as a close personal network of like-minded parents from all over the world have helped tremendously. Hypomom essentially brings an array of resources for all you rare disease parents out there, including:
Would you like a guide for your condition? You can contact us and let us know what you need in your guide, and we will make it happen here at Hypomom.com*
*This guide is a free service offered by Danielle at Hypomon.com
Patients with ultra-rare bone marrow disease set to benefit from £1.15m grant from LifeArc and The Aplastic Anaemia Trust
Supporting researchers from King’s College London and King’s College Hospital to test a personalised treatment approach for Aplastic Anaemia patients who have not responded to available therapies
LifeArc, a UK-based medical research charity, and the Aplastic Anaemia Trust (AAT) have jointly awarded a £1.15m research grant to King’s College London and King’s College Hospital to investigate the potential of a novel type of “personalised cellular therapy” to reverse the ultra-rare condition aplastic anaemia (AA). The results of this research could give new hope to people living with a severe, life-limiting form of this condition.
The grant will fund a clinical trial to investigate the safety and efficacy of using a patient’s own T-reg cells to restore the blood-making function of the bone marrow. This follows laboratory-based research from the team of scientists where T-reg cells from a patient’s own blood were collected, selected for activity and multiplied. In a test tube, these cells prevented the immune system from attacking the patient’s bone marrow stem cells.[i]
For patients with this ultra-rare disease, we’re looking for the first time at a personalised medicine approach where their own immune cells could be used to alter their disease.
Professor Ghulam Mufti, Department of Haematological Medicine at King’s College London and King’s College Hospital, and lead study investigator said: “For patients with this ultra-rare disease, we’re looking for the first time at a personalised medicine approach where their own immune cells could be used to alter their disease. In AA there is a reduction in the number of T-regs and most of the ones that the AA patients do have are non-functional. We’ve seen success in the laboratory by selecting and bolstering the number of functional T-reg cells. Now, with funding from LifeArc and the AAT, we can investigate the potential of this approach in treating AA patients who currently have very limited treatment options.”
AA is an ultra-rare life-threatening illness caused by the bone marrow failing to make enough of all three types of blood cells—red blood cells, white blood cells and platelets. Only around 100–150 people in UK are diagnosed per year, affecting all ages but most commonly people between the ages of 10 to 20 years old and those over the age of 60 years.
People with the illness are at greater risk of infections, bleeding, and can experience extreme fatigue, which leaves them unable to carry out simple daily tasks that most people take for granted. Around one in three patients with severe AA fail to respond to existing drug treatments and the other option — a bone marrow transplant – is reliant on finding a suitable donor, requires life-long treatment with immunosuppression therapy and is unsuccessful in one in three people.
LifeArc set up the Philanthropic fund to support translational research into rare diseases, where there is less interest from commercial organisations. Patients with AA can have limited treatment options; this opportunity with King’s College London, King’s College Hospital and the AAT has the potential to transform the lives of patients living with a severe form of the disease.
Dr Catriona Crombie, LifeArc’s Head of Philanthropic Fund explained why the charity had approved the funding: “LifeArc set up the Philanthropic fund to support translational research into rare diseases, where there is less interest from commercial organisations. Patients with AA can have limited treatment options; this opportunity with King’s College London, King’s College Hospital and the AAT has the potential to transform the lives of patients living with a severe form of the disease.”
The trial at King’s College London and King’s College Hospital will run for a duration of three years and aims to recruit nine patients. A blood sample of the patient’s T-reg cells will be extracted, purified and grown in the lab before being given back to the patient in a higher concentration. As patients with AA are more susceptible to infection, this personalised treatment approach is more likely to avoid the risk of severe infection and inflammation.
AA can severely impact a person’s quality of life. Through AAT’s close work with King’s College London and King’s College Hospital as a specialist centre of clinical care and research in AA, we identified the project with the most potential to directly benefit patients who are currently at a loss for solutions.
Grazina Berry, CEO of the AAT said: “AA can severely impact a person’s quality of life. Through AAT’s close work with King’s College London and King’s College Hospital as a specialist centre of clinical care and research in AA, we identified the project with the most potential to directly benefit patients who are currently at a loss for solutions. We are delighted to have partnered with LifeArc and King’s College London and King’s College Hospital to progress this ground-breaking work, which could potentially enable people living with severe AA to once again lead a normal life.”
About Aplastic Anaemia
Aplastic Anaemia (AA) is a rare and life-threatening illness caused by the bone marrow failing to make enough of all three types of blood cells - red blood cells, white blood cells and platelets. It is estimated that between 100 and 150 people will be diagnosed in UK alone every year. That is around 2 people for every 1,000,000 of population, making AA a very rare disease. In most cases of AA, the immune system attacks the bone marrow, thinking it is faulty. This makes the bone marrow function slow down, leading to the under-production of all types of blood cells.
The most common symptoms of AA are anaemia - caused by a lack of red blood cells - with the associated feeling of fatigue, shortness of breath, headaches and, occasionally, chest pains, and increased risk of infections caused by low white blood cells. Low platelets cause people to bleed easily. Being more susceptible to severe and life-threatening infection and bleeding complications makes AA a highly dangerous disease. Patients will visit hospital regularly to receive blood transfusions and treatments for infection; many will be admitted to hospital for weeks at a time while they receive treatment, and those who recover must take a lot of time regaining their strength, avoiding places where they could easily pick up infections.
There are currently two standard first-line treatments for AA: immune-suppressive therapy (IST), which uses medicines (antithymocyte globulin (ATG) and ciclosporin) to dampen down abnormal immune responses, or bone marrow stem cell transplantation, the only known curative AA treatment to date, but suitable only for a proportion of patients. A bone marrow transplant is an intense procedure that requires an immunological matched donor and may require lifelong immunosuppression therapy, which can lead to further debilitating side effects. Both bone marrow transplants and the combination of ATG and ciclosporin work in only around 2 in 3 of AA patients.
About the Aplastic Anaemia Trust
The Aplastic Anaemia Trust is the only charity in the UK dedicated to research into aplastic anaemia and allied rare bone marrow failures and supporting everyone affected nationally. We have built productive working partnerships with major research and treatment centres of excellence in England, providing us with direct access to world-class experts, state-of-the-art labs and excellent patient care. Access to this medical and scientific expertise puts us in a strong position to identify areas of need, raise funds for research, and engage with the expert community in the UK and internationally. Our vision is a world free from aplastic anaemia and allied rare bone marrow failures. Our mission is to enable vital research into the causes of aplastic anaemia and other rare bone marrow failures that ultimately leads to finding a cure, and to support everyone affected by them, so they can lead healthy and fulfilling lives.
Our strategic objectives are
LifeArc is a self-funded medical research charity. Our mission is to advance translation of early science into health care treatments or diagnostics that can be taken through to full development and made available to patients. We have been doing this for more than 25 years and our work has resulted in a diagnostic for antibiotic resistance and four licensed medicines.
Our success allows us to explore new approaches to stimulate and fund translation. We have our own drug discovery and diagnostics development facilities, supported by experts in technology transfer and intellectual property who also provide services to other organisations. Our model is built on collaboration, and we partner with a broad range of groups including medical research charities, research organisations, industry and academic scientists. We are motivated by patient need and scientific opportunity.
Two funds help us to invest in external projects for the benefit of patients: our Philanthropic Fund provides grants to support medical research projects focused on the translation of rare diseases research and our Seed Fund is aimed at start-up companies focussed on developing new therapeutics and biological modalities.
Find out more about our work on www.lifearc.org or follow us on LinkedIn or Twitter.
About King’s College London
King's College London is one of the top 10 UK universities in the world (QS World University Rankings, 2018/19) and among the oldest in England. King’s has more than 31,000 students (including more than 12,800 postgraduates) from some 150 countries worldwide, and some 8,500 staff. King's has an outstanding reputation for world-class teaching and cutting-edge research. In the 2014 Research Excellence Framework (REF), eighty-four per cent of research at King’s was deemed ‘world-leading’ or ‘internationally excellent’ (3* and 4*).
Since our foundation, King’s students and staff have dedicated themselves in the service of society. King’s will continue to focus on world-leading education, research and service, and will have an increasingly proactive role to play in a more interconnected, complex world. Visit our website to find out more about Vision 2029, King’s strategic vision for the next 12 years to 2029, which will be the 200th anniversary of the founding of the university. World-changing ideas. Life-changing impact: https://www.kcl.ac.uk/news/headlines.aspx
About King’s College Hospital
King’s College Hospital is a leading national and international centre for the diagnosis and treatment of blood cancers. The hospital is home to the largest bone marrow transplant programme in the UK and performs more than 160 transplants a year. King’s College Hospital is also an international centre for research into and the treatment of myeloid leukaemias, lymphomas and myeloma, and have the first immune gene therapy programme for leukaemia approved by the Gene Therapy Advisory Committee (GTAC). It is the first hospital in the UK to treat adult lymphoma patients with CAR T therapy, and it has an active CAR programme in lymphoma, leukaemia and myeloma. It is also a centre of excellence for myelodysplasia and expertise in matched and unrelated transplants for the treatment of myelodysplastic syndrome (MDS).
The haemato-oncology service:
For more information about the haematology service at King’s College Hospital visit https://www.kch.nhs.uk/service/a-z/haemato-oncology
Rare Revolution Editor