Mum walks 100 miles to find a cure for son’s rare condition
Jo Barry walked 100 miles to raise vital funds and awareness for SRUK.
I think my daughter may have Raynaud's as her little toe keeps going completely white - how can my GP diagnose childhood Raynaud's?
It is difficult to diagnose Raynaud's in children, whose extremities are often much colder and prone to colour change, compared with adults.Although Raynaud's can occur in young people, it is usually identified by very dramatic blue or red discoloration and complaints of pain or obvious problems with gripping objects or using hands. Even when diagnosed, any medical treatment for Raynaud's would usually be delayed until teenage years when Raynaud's is more common and more drugs could be considered.
My 15 yr old son has had Morphea for about 6 years and in the last 18 months his wrist has become completely 'stuck' in ulnar drift position. I want to know what treatment is available. Also the doctors have said that the scleroderma may be affecting internal organs - what tests should I be asking for?
Morphoea describes all forms of localised scleroderma that affect the skin and underlying tissues but do not generally have any effect on internal organs such as the lungs, heart or blood vessels. Very occasionally a patient with systemic sclerosis also develops skin morphoea but this is a coincidence of two diseases not progression between the conditions. Morphoea is the commonest form of scleroderma to develop in children. To exclude internal organ disease in any patient it is usual to perform standard heart, lung and kidney tests. In typical morphoea these are expected to be normal. The effect of morphoea on bone and joint growth at the sites of skin change can lead to deformity as you describe, with bending of the wrist outwards (“ulnar") and may prompt a change in medical treatment. Physiotherapy and exercises are also important especially if the limbs are still growing.
I have had a 6 month course of cyclophosphamide given every four weeks intravenously. I am currently feeling really good and wanted to know whether this will last?
Cyclophosphamide is a chemotherapy drug that reduces immune system overactivity and has been shown to benefit skin and lung fibrosis in scleroderma. Although it can have side effects these are much less when given as a monthly intravenous treatment than tablets every day. Usually treatment is followed by tablet therapy with another immune suppressive such as mycophenolate mofetil for at least 18 months (often longer) to maintain the benefit that can wear off otherwise.
I have been diagnosed with scleroderma, do I need to stay out of the sun?
There is no evidence that scleroderma is aggravated by sun exposure, unlike related diseases such as lupus (SLE) or dermatomyositis, where sun exposure can definitely worsen skin rashes and may aggravate internal organ disease. However, it is still sensible to use high factor sunblock and protect the skin. If you are taking immunosuppression such as mycophenolate mofetil it is advised to avoid sun exposure as there can be increased risk of sun induced skin cancers, although this is rare. Diffuse scleroderma is often associated with increased pigment in the skin, so patients can become generally much darker, but this is not necessarily associated with worsening skin fibrosis.
I have received a letter from my GP advising me to have influenza vaccination due to my age (65). I have Raynaud's and scleroderma, will this vaccine affect any of my medication or lead to side effects due to my conditions?
In general if you have any chronic disease that could affect the lungs or are taking medication that reduces immune activity you should definitely have the influenza vaccination, as you will be more prone to this illness and to its complications. There is no evidence that vaccination worsens established scleroderma.
I have Lichen Sclerosus (LS) and I've often wondered how the “sclerosus" aspect of LS relates to scleroderma?
Lichen sclerosus is a distinct skin disease from scleroderma with a somewhat similar name. It causes inflammation, itching and thickening in some area but later the affected skin can becomes very thin. When a biopsy (sample) of skin is examined under the microscope the appearance of lichen sclerosus is very different from morphoea but occasionally the conditions occur together in the same patient.Sclerosis means “hard" and the skin can be hard or locally thicken in scleroderma and in lichen sclerosus, hence the similar names.
What affect does Raynaud's have on blood tests?
Raynaud's that is not associated with any underlying disease, termed primary Raynaud's is not associated with any blood test abnormality and so blood tests can be important in making the diagnosis. In secondary Raynauds there can be associated connective tissue or rheumatic diseases and blood tests such as antinuclear antibody (ANA) may be found. These tests are useful in diagnosing cases of secondary Raynaud's. They can also predict cases of Raynaud's that are at increased risk of progressing to a defined disease such as scleroderma or lupus in the future. Together with microscopic examination of the small blood vessels around the finger nails (capillaroscopy) these ANA blood tests are very sensitive and have strong predictive value if positive and are even more reassuring that no connective tissue disease progression will occur when they are negative.
As a sufferer of Scleroderma and Raynaud's, I also get constant post nasal drip especially in the night and in the Telegraph doctor's column he has suggested it is attributed to an imbalance of the functioning of nerves that control the blood flow to the lining of the nose. I just wondered if it could be worse in people with Scleroderma and Raynaud's. He suggested Tinatec (or ipratropium bromide) is highly effective, should I try this?
There are several possible ways in which scleroderma might be relevant. Nasal symptoms are common in scleroderma and probably reflect the effect of scleroderma on mucosal lining surfaces more generally. Although the mechanism is unclear, the amount and quality of mucosal secretions is reduced in scleroderma and this leads to dryness of the mouth, eyes and the upper respiratory tract. This is one reason why scleroderma patients may notice a change or hoarseness of the voice.
This change in the lining of the nose may also lead to a degree of inflammation or local infection and this may contribute to a post nasal drip. In addition, altered blood vessel and nerve regulation may be relevant. Increased blood supply to the nasal mucosa can lead to increased secretions and this could be associated with vascular instability as is seen in scleroderma. I would not recommend any specific medication without discussing it with your doctor, as some of these work by reducing nasal secretions and this might aggravate the symptoms rather than be helpful.
What is Bemer (electromagnetic therapy) for the treatment of Raynaud's and is it effective?
BEMER stands for Bio-Electro-Magnetic- Energy-Regulation and is a system which uses a low-frequency, pulsed magnetic field that can be applied to the body. It has been reported to benefit the circulation and there are reports of benefit for Raynaud's although there have not been any formal medical trials to confirm benefit. In the laboratory, this form of electromagnetic radiation has been demonstrated to have effects on the metabolism of living cells but much more research would be needed to give a definite answer about effectiveness. There are no reports of harmful effects but many scientists are skeptical about benefits, especially for the circulation.
I have scleroderma and osteoporosis and wondered if using Prolia® will worsen my scleroderma?
There is not a specific link between scleroderma and osteoporosis although some patients with scleroderma may have other risk factors. Treatment of osteoporosis in scleroderma can be in line with standard treatment approaches that calculate risk of fracture. It is important to have adequate vitamin D levels, bearing in mind that scleroderma can affect nutrition. Prolia® is the trade name for the drug denosumab which is an antibody treatment given by injection under the skin every 6 months. It is generally safe and often used in patients who have osteoporosis, especially as an alternative to bisphosphonate drugs that can be associated with esophagitis when taken by mouth.
I had a gastroscopy under sedation, the last one I had was awful. Even with the sedation I could feel the discomfort and hear everything going on and yet was unable to communicate with anyone. Afterwards when I saw the male nurse who informed me of what they found, I told him how unpleasant it was and he said I wasn't the first Raynaud's & Scleroderma patient to make the comment. He wondered if it is due to the circulation or medication we are on for the illness and I would welcome Professor Denton's thoughts and how many other members had experienced thisIt is really unfortunate that your gastroscopy experience was difficult as this is not usually the case.
There can be some practical difficulties for some scleroderma patients having a gastroscopy, such as restriction in mouth opening, which may make it more difficult than in other patients. There is no specific reason why scleroderma would affect the effectiveness of sedation but in some cases doctors may be concerned about risks of sedation, especially if there is a heart or lung complication of scleroderma. This is something that you need to discuss with your doctors.
I have been advised to take Omega 3 and Glucosamine for diffuse scleroderma - how will this help?
Omega 3 is a type of fat molecule that is essential for normal metabolism and appears to have health benefits by reducing harmful lipid levels in the blood and potentially through enhancement of factors such as prostacyclin that can benefit blood vessels and so it makes sense that it is reported to be helpful in some patients. It is on a list of nutrient supplements that we suggest that a patient with Raynaud's or scleroderma may try and continue to take if it is helpful. It is very unlikely to have any harmful effects. Glucosamine is an amino-sugar that represents another dietary supplement that has been reported to help joint pain, especially due to osteoarthritis. It may help to strengthen cartilage or slow breakdown but is not an approved or recommended medicine. It is widely promoted as a supplement to help preserve skeletal wellbeing but is not a licensed or approved medicine. Formal clinical trials have been rather unclear about the benefit but it is something that some patients take regularly and find helpful in painful osteoarthritis.
Jo Barry walked 100 miles to raise vital funds and awareness for SRUK.
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