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Guest Blog  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* Best regards Danielle Drachmann *This guide is a free service offered by Danielle at Hypomon.com
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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 therapiesLifeArc, 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
About LifeArc 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 Media Contacts Grazina Berry
Chief Executive Officer, Aplastic Anaemia Trust Tel: 07748 186 858 gberry@theaat.org.uk Surinder Maan Communications Manager, LifeArc Tel: 020 7391 2754 surinder.maan@lifearc.org |
