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International Gaucher Day

International Gaucher Day (IGD) was launched in 2014 and is celebrated annually on 1st October to raise awareness of Gaucher disease.

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The focus of #IGD2021 was to improve patients' quality of life by campaigning for earlier diagnosis of Gaucher disease given the challenges faced by many Gaucher patients in having their condition accurately identified. Our strapline was Early diagnosis, better lives. 

 

As in 2020, this year's event was totally online with no printed materials or merchandise. We encouraged our members and community to follow us on social media using the hashtags #IGD2021, #earlydiagnosis and #RareButNotAlone on Facebook and Instagram.

We are sharing three stories from patients and carers about what early diagnosis of Gaucher disease has meant for them, and the challenges they faced, as well as the thoughts of a leading clinician in the field. Click on the posters to enlarge them. You can download and print or share these on social media.

Looking back on the last few years we find ourselves so thankful for the early diagnosis Jackson fortunately received as we are currently looking at a child that is developing in the normal range for his age, something we feared, in the beginning, he wouldn’t achieve. For Jackson an early diagnosis at the age of 18 months, has meant his condition over the last 3 years has become normal to him. All the tests, trips to hospitals, annual testing and now treatments are part of his everyday life, which in turn has made him able to react to these positively without him being afraid because actually he doesn’t know any different. Jackson has grown up with the medical team that are looking after his care. Knowing who he will be seeing and what will be taking place when he sees them seems to have made him feel more and more confident at each meeting because he’s been able to become very familiar and interactive with the events that take place. As parents we knew things were not right for Jackson, with difficult nights and him generally being in pain and having an extended tummy, often we were told “not to worry, this is normal” however the continual dismissal of his symptoms made us feel that we couldn’t be taking proper care of our son and everything was our fault. Eventually after having Jackson taken to hospital with a very large throat abscess and other symptoms that manifested, he was finally referred to a paediatrician who also felt something was not right and thus we got referred to Great Ormond Street Hospital, with the subsequent early diagnosis of Gauchers disease. Just putting a name to all that had been happening was something of a relief and reassured us that we had actually not done anything wrong in the care of our child. In the very early days we were made aware that Jackson has Gauchers Disease type 3, it was very frightening reading and researching about this on the internet as our attention always seemed to be drawn to the worst case scenario but as soon as we were scooped up by GOSH and The Gauchers Association things for us became better with correct, up to date research at hand and a kind friendly, informed community to tap into so we quickly found the information we needed, became reassured things could and would be better, life could and has indeed become normal. As a family we have managed to achieve a routine in our lives that to us is normal, part of everyday life and now doesn’t feel invasive, we can function as well as all normal families thanks to the support of our extended family, the various medical teams at GOSH, the local hospitals, The Gauchers Association, and most importantly, the early diagnosis of the condition.Hi, my name is Gidon Goodman, and I am a Gaucher patient and President of the Gaucher Association of Australia and New Zealand. For my family, the diagnosis journey was the toughest and most critical part of having Gaucher. Within months of being born, it was clear to both family and doctors that something was wrong; I had an enlarged stomach, low energy levels and was diagnosed with a ‘failure to thrive’. These symptoms continued to worsen over the next three years, whilst doctor after doctor and a wide array of specialists were unable to diagnose what exactly was causing these issues. At points during this journey towards a diagnosis one of my parents were ready to give up and accept a reality of having an undiagnosable disease. It appeared that years of tests and constant misdiagnosis had failed to yield results. However, they continued searching, and fortunately, I was diagnosed at the age of three with Gaucher disease by a doctor who by coincidence had experience with another patient with Gaucher. The multi-year gap between the start and end of the diagnostic odyssey was the source of immense stress and concern for my family – with constant worrying and doctors’ appointments impacting upon the whole family’s mental health and wellbeing. The difference which rapid and accurate diagnosis can make by eliminating that multi-year diagnosis journey is immense, as it reduces the stress and concern which comes along with having an undiagnosed condition. It’s evident that both in my own situation, and for many other Gaucher patients who have had even longer journeys to diagnosis, accurate diagnosis would greatly benefit both our mental health and general wellbeing.

Eden was born on the 10th May 2018 at 3.4Kg. The first year of her life was relatively normal until about when she started walking. She seemed a bit clumsier than what we thought to be normal but didn’t think it was anything to be worried about. Whenever she had the slightest bump or scrape it always seemed to take a bit longer to heal. Shortly after she turned a year, we noticed that her tummy felt hard. We approached different general practitioners and they all told us that as long as she was eating and pooping regularly, she was OK. After a few months and more unexplained bruises we insisted that they please take a closer look, The doctor then referred us to get an X-ray and ultrasound done. When he saw the size of her spleen and liver, he then referred us to Red Cross Children’s Memorial Hospital. Once we got there the doctor immediately admitted Eden due to her abnormally large liver and spleen and dangerously low platelet count of 46. We stayed in Hospital for about a week, with every specialist coming in to conduct different blood tests. Eventually the Associate professor said that they would be testing by means of illimitation, meaning that they would do any and all tests until they had a diagnosis. They moved us over to the oncology ward and there they performed a bone marrow to rule out Leukaemia. Thankfully that came back negative as well. The doctors at the Oncology ward then approached us for consent to send Eden's blood work away as they feared it might be something rare. About two months after Eden was admitted Dr Hendricks had given me a call saying that they were able to confirm her diagnosis. He said that it was in-fact Gaucher's. We were terrified at the news as we knew nothing about it. However hearing that there was treatment gave us a bit more hope. We sat with Dr Hendricks and he informed us of treatment that was available but also said that the knowledge of this was limited. We were faced with the harshness of the inequality within our health system and sought to raise funds to try and get Eden's much needed treatment at least started. Dr Hendricks then put us in contact with Kelly du Plessis, from Rare Diseases SA, who was able to shed so much light on the situation we found ourselves in. She assured us that we were in-fact not alone in this. She along with Aimee-Kate Bosch, has given us so much direction and support when it came to what we could expect and what our little Eden could be going through and basically tried to prepare us for the worst. The start of our journey compared to a year of Eden being on the Enzyme replacement treatment (ERT) we can already see the difference in her physical appearance (enlarged liver and spleen) as well as her physical abilities. Eden has been receiving ERT every second week for 12 months since diagnosis and the results are remarkable, the enlarged liver and spleen has decreased in size by 50%. She no longer suffers from blue marks that previously would not go away due to a small bump or fall. We have had conversations with other patients of all ages diagnosed with Gaucher's disease, I won't say suffering, but living through with this disease, it has given us so much hope for our little Eden, that she is able to live a long, happy and fruitful life despite her rare disease. We are eternally grateful to the Rare Disease SA family for accepting us and all the education about rare diseases. The support we have received has made it easier to cope with everyday life, work and frequent hospital visits. In most aspects of medicine, early diagnosis is not just desirable: it is of proIven benefit. Especially when, unlike most other chronic diseases, genetic or otherwise, treatment can reverse the disease and maintain an effective cure. So diagnosis (detection) is nearly always of benefit, but if effective treatment is available, the mandate is very strong. An opportunity missed: to stop bleeding, reverse ill health due to effects on the internal organs and marrow - or rescue bone from destruction (and the patient from painful disability). This is not what anyone wants. To accelerate diagnosis, we need awareness and information about easy testing. Of course to make a rare diagnosis requires knowledge but not necessarily knowing more and more about rare diseases – no one can know them all. It is about skills and attitude – the desire to find out what is going on in a patient and the skill to persist and maintain trust and, so to say, working with the person as a ‘fellow traveller’. If the spleen is enlarged, then why? If there is an episode of osteonecrosis in childhood or any time in life, then go beyond giving pain relief for that : ask why? Is there a cause? How can I investigate it? If the platelet count is inexplicably low, then keep investigating until the explanation and the cause can be found. Do not just say: well it is low but not low enough to harm you: ask what it signifies. And if you as a doctor do not know, ask a colleague: ‘good doctors tend to hunt in packs’! Access to early treatment is not only conditional on diagnosis but on Availability Awareness, Attitude and Activity. This is my comment to the point raised: patients, advocates, colleagues – and all of health care professionals are best served when there is a common realization of this. After all, it is frightening and alienating for anyone to be unwell and not know who to trust nor what to do. We all have so much to learn in making a diagnosis and acquiring the knowledge needed to do the best thing (possible) for the person at the centre of the illness.

 

Pali, a Gaucher patient from Mexico, talks about the importance of early diagnosis on patients' mental health and well-being.

 

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Pali, a Gaucher patient from Mexico, talks about the importance of early diagnosis on patients' mental health and well-being.

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