Hear from Val, one of our members... about her journey with Scleroderma Queensland.
Member's Story - Sandra
Sandra tells us of her journey with Scleroderma.
Maliea's Scleroderma Story
"Hi, my name is Maliea and I'm 9 years old living in Brisbane and I have been diagnosed with Scleroderma. 🌻
Late last year, my doctor sent me for a lot of tests. It was then I was told that I had scleroderma and precocious puberty. It was important that my precocious puberty was dealt with immediately so that my treatment could start before it was to late.
My Scleroderma journey started with numbness in my hands and toes, headaches, joint pain, changes in my skin and being constantly tired. Unfortunately, in the past few months I have started choking and having difficulty swallowing and unexplainable abdomen pain and burning of the skin sensation.
In recent blood results and other tests, they found a heart condition and told me that my levels were twice the amount they usually see in most adults with autoimmune diseases. So now I'm on track to see a rheumatologist and cardiologist. Unfortunately that isn't the end of my story, today further bloods have found that i may have Sjogrens, Lupus or Primary Bilary Cirrhosis.
My family and I are extremely pleased that we found a doctor who listened and was determined to find answers for me. We are pleased to have found a support group for Scleroderma, so thank you for reading my story."
Written by Maliea. November 2020, published with permission.
Blake's Scleroderma Journey
"I’ll start from the very beginning when Blake was just 22. Blake was healthy all his life until the beginning of January 2018 when he started to complain of sore joints, swollen hands to the point that he had to take his wedding ring off and vomiting at work resulting in many sick days which was very unusual for Blake. Blake did a physical job as a warehouse assistant so we just thought that the soreness in his joints was from that and would eventually go away with time. After about a month of pain, we visited some of Blake’s family for dinner and they pointed out that these sounded like symptoms of Ross River Fever and urged us to go to the doctor as soon as possible.
On the 4th of February we had our first doctors appointment. She ordered blood tests and physically examined Blake and we returned to find that Ross River Fever had been ruled out by the blood test. We went to see the doctor many times and she was unable to pinpoint a reason why Blake was unwell and deteriorating. At our last appointment with her, she referred us to a physician and all we could do was wait (most likely a few months). I thought that it wouldn’t hurt to seek a second opinion while we waited to hear back from the physician so I booked an appointment with a different GP closer to home.
On the 15th of March we had our first appointment with the second GP. He looked at all of Blake’s symptoms, physically examined him and even called in another doctor for advice before saying he needed to go straight to the emergency room at the Royal Brisbane and Women’s Hospital because he looked sick and malnourished. This was also the last day Blake worked.
At 9pm on the 15th of March we arrived at the Emergency Department at the Royal Brisbane and Women’s Hospital. Blake was examined and admitted at around 1am. He was then moved through to C.O.L.D. where his blood pressure was documented as being low; he was administered a saline drip until his blood pressure returned to a reasonable level. When his blood pressure was stable he was moved up to a ward around 6:30am.
Blake remained in hospital for many tests until he was given the diagnosis of Diffuse Scleroderma and Raynaud’s Phenomenon on the 22nd of March. Blake stayed in hospital for more tests and treatment until the 27th of March when he was discharged.
After leaving hospital Blake’s health continued to decline. Over the year Blake saw many specialties at the Royal Brisbane and Woman’s Hospital which included Rheumatology, Occupational Therapy, Physiotherapy, Haematology, General Medicine, Dietetics, Gastroenterology, Thoracic, Cardiology, Psychology, Fertility, Urology and we saw Blake’s GP once a week. Blake also had an Endoscopy and Colonoscopy, as well as images done at Medical Imaging and a Bone Density Scan at Nuclear Medicine. He had Rituximab at Internal Medicine, had lung function tests and echocardiograms to monitor his disease progression and also had many blood tests.
On the 25th of June we had a Haematology appointment at the hospital. They discussed the possibility of Blake having an Autologous Stem Cell Transplant and explained that it was Blake’s best option to increase his life, ease his symptoms and slow the progression of his Scleroderma. We thought about the transplant and talked to other medical professionals about their opinions on the idea. I even reached out to Dr. Susanna Proudman from Adelaide for her specialist advice and she was very supportive and helpful giving her own insights.
After we decided to go ahead with the transplant we were informed about the risks and the exact process Blake would go through for the transplant. Blake had a right ventricular catheter done to test that his heart was strong enough to handle the chemotherapy. His results from that were normal. Blake was also told that there was a high possibility that the chemotherapy he would go through would make him infertile so we started the process of freezing his sperm to preserve his ability to have children in the future.
On the 10th of September Blake went into the RBWH for his first round of Chemotherapy in preparation for this stem cell collection. That night he had a very high fever so I took him into emergency where he was admitted and spent two days having tests. He was discharged with no complications and we continued with his GCSF injections for his stem cell collection.
On the 20th of September Blake had his stem cells retrieved and frozen. He needed to have a minimum of 3 million stem cells collected and managed to get over 11 million, which was an astonishing result.
On the 27th of December 2018, Blake was admitted into the Bone Marrow Transplant Ward of the Royal Brisbane and Woman’s Hospital for his Autologous Stem Cell Transplant. On the first day of admission, Blake had a Hickman Central Line inserted surgically and then was taken to his room where he would spend his entire stay in hospital. The next four days Blake had rabbit ATGAM (the only person to have the rabbit ATGAM all year) and Cyclophosphamide Chemotherapy. He also had the chemotherapy on the 5th day. On the 6th day Blake had his stem cells thawed and transplanted.
Through his hospital stay dietetics worked very closely with him. At admission Blake weighed just 53kg and was therefore given TPN (Total Parenteral Nutrition) through his Hickman line as an extra chance to gain vital nutrition.
Over the rest of Blake’s hospital stay he was monitored closely as we watched his immune system perish and his body build itself back up from nothing. He did incredibly well through recovery and had minimal complications. All of the doctors and nurses were astonished with how well Blake did. Blake did so well that he was discharged earlier the expected on the 16th of January 2019. At discharge Blake was very excited to go home and get out of the hospital.
After the Stem Cell Transplant Blake saw his Haematologist every two weeks to monitor him for any improvements or complications and to check his blood to ensure his levels returned to normal. Blake improved significantly with a lot of his previous symptoms easing or going away completely. His walking improved to the point that he could even run, jump and bend. His pain reduced all over his body and he regained a lot of his strength back. His hands went back to normal size and function returned. He mostly returned to his old self before he became sick. His immune system returned and he even managed to not get the flu even when I had it and was around him 24/7. We never expected such an amazing outcome and were very lucky with the results we achieved. Blake was the first person in Queensland to have an Autologous Stem Cell Transplant as treatment for Scleroderma and is an inspiration to many others with the condition and for those without it. Blake has gone from strength to strength; just this month he turned 24, rode a horse for the first time and is now looking at beginning studies in July in preparation to start a new career."
Written by Telise - Blake’s Wife. 17th of April 2019, published with permission.
"My Scleroderma story begins in 1988 when I was diagnosed with the disease after years of being told that it was Menopause or something else. I was working night shifts in a packing factory in Melbourne with fridges as my main job. My fingers were turning white and were quite painful. I was lucky to find a new GP in our Medical Clinic who had seen a case of Scleroderma as he was going through Medical school, did the blood tests and then I had a name for my problem. I was put on medication to help with the circulation in my fingers. I eventually had to leave the job as it was not helping my condition.
We returned to Brisbane and a warmer climate and things improved for a few years before I was diagnosed with Sjogren's Syndrome.
My Oesophagus, which was starting to thicken by then from the Scleroderma, became a problem with very little saliva to help with the swallowing process. The last few years have seen me go from being a lover of food to someone who now has to blend most of my food that is hard to swallow as well as having a diet of soft food. I have to be careful when I swallow as the mechanism does not always work. I have no saliva at all now so rely on water, Mouth Gels and sprays to keep the mouth moist. Another side effect with having no saliva is that the teeth begin to crumble. I am on a strict regime with my teeth cleaning process trying to save what teeth I have left.
The Scleroderma really only affects me in the whole Gut system now with lack of motility right through that area. Lots of medication does help but now the Oesophagus has become quite tight and stiff. This leaves me with the feeling in my neck of strangulation. Not a pleasant feeling. At the moment I am having an Endoscopy every 6 months to keep an eye on the situation. Also a swallowing test is done every now and then.
My life with these diseases has definitely been interesting. Never boring. During these years I have had a Stroke, Cancer and now have developed a Heart problem. Belonging to the Assn has been a godsend in many ways with information from other members there to help me."