A Positive Diagnosis

Hello friends and family… I have some important news to share about my health, and though it’s not easy, the news is pretty good in the grand scheme of things.

Since September (maybe earlier, hard to pinpoint) I’ve been experiencing a variety of symptoms that can be common place, caused by many things, making it hard to figure out what’s wrong. I had swelling, pain, stiffness, hardness beneath the skin and a burning sensation in both my arms and legs. Luckily, I am persistent when I sense a problem, and with advice from a friend who is a doctor, I was able to refer myself to an expert rheumatologist in Lund and get a diagnosis much faster than average.

After many blood draws plus visits, two weeks ago I received a diagnosis of Eosinophilic Fasciitis confirmed by a deep tissue muscle fascia biopsy. I’m still recovering from this. It’s one of the reasons EF may be under diagnosed, because people don’t want to do the biopsy and doctors don’t want to make them go through it unless they’re really sure about it, and many doctors have never seen a case before. Another stroke of luck is that this doctor recognized early signs. Here’s a summary:

• It is a rare autoimmune disease: EF is a very rare condition where the immune system mistakenly attacks the body’s fascia (the connective tissue layer under the skin that covers muscles). It is sometimes called Shulman syndrome.
• It causes swelling and stiffness: The main symptoms are pain, swelling, and inflammation in the affected areas, especially the arms and legs. The skin may become thick, hard, and lose its elasticity. EF causes scarring under the skin.
• Mobility is affected: The skin and tissue changes can make movement difficult and painful, potentially leading to joint stiffness and limited mobility if not treated.
• It is a serious condition: While there is no cure, it is treatable with medications, and in many cases, patients go into remission.
• Fatigue is a common symptom: You may experience significant fatigue, which is a common symptom when the body is dealing with inflammation. 

One of the first bits of advice the rheumatologist gave was not to focus on the cause. It is not helpful because of Complex Causation (not a single cause but a complex interaction of genetic predisposition, environmental factors, immune dysregulation and other unknown elements) and Difficulty in Identification (exposure to a potential trigger may occur months, years or even decades before symptoms appear) among other issues. So it doesn’t benefit the patient to expend much energy on this issue. He also said be cautious about looking at the internet for information. This link to the National Organization for Rare Disorders might give you a chance to learn a bit more without having to sort through lots of extreme or misinformation.

Because there is a genetic component I think it’s really important to share this information with family. Early diagnosis and treatment significantly improves patient outcomes. There is a very good chance for me to reduce or even eliminate symptoms and reverse most of the tissue damage. There is not a lot of information about EF. Only small studies have been conducted. I started the following treatment plan:

First-Line Treatment (Standard Protocol) 

• Corticosteroids: High-dose oral prednisone (e.g., 40-60 mg/day) started early, then gradually tapered as symptoms improve.
• Immunosuppressants: Often added to corticosteroids (methotrexate is preferred) to improve response and prevent relapse, reducing reliance on steroids long-term. 

The doctor is hopeful that treatment will reduce the swelling and hardening of the fascia, which is likely why my hand and feet mobility is impaired. I can do most daily activities but it’s slow, clumsy and awkward. Getting my compression gear on and off (to help control the swelling) is now a part time job! There are other therapies to improve mobility if the steroids don’t help enough. I’ve been reading a lot of research papers and studies and will reach out to universities that study the condition. I found a support group that has been very helpful. My symptoms are on the mild side, I have early diagnosis, and good access to treatment.

Of course there will be some big changes for me and my family. They are already stepping up to help make life easier for me! I will need to be more careful about exposure to illness. Travel will be more challenging, and honestly it was already quite hard for me. So I guess you all should start planning your visit to Sweden!?! I am managing pain and fatigue fairly well at this point and am told that in two weeks things could improve dramatically. I have not had any big side effects to the medications. Concerns about complications are on my mind and I started an 8 week program of meditation and breath work to help manage pain, emotions, and mental heath.

The doctor overseeing my meds says I need to avoid sweets, salt, and processed foods and be careful not to eat too many calories. This might be the most devastating part for me, haha! I’m trying not to feel called out by the universe but WTH?! Physical therapy will start once the swelling goes down and I need to be walking and moving a lot for circulation, but not too much, so it’s a challenge to find balance.

Relating back to the remarks about complex causation, I can report that my first cataract surgery went well! I chose to wait in the queue for an experienced surgeon due to my concerns about having the corneal disease Keratoconus, which is strongly linked to immune system activity and inflammation. Keratoconus and Pigment Dispersion Syndrome (yes, another thing) may have made me more susceptible to an iris prolapse. This did occur during my surgery but was handled and is healing well. If you need cataract surgery in future this history should be passed on to your doctor. I am so glad that I advocated for myself and got on the list for the experienced surgeon! And vision in the right eye is already improved! Decisions on the left eye will have to wait as we assess the risks and consider the new diagnosis.

Then there’s Raynaud’s syndrome, sometimes linked to an underlying autoimmune disorder, which is another condition that possibly affects me, though has not been officially diagnosed. For family members, I figured you should know to watch for autoimmune symptoms in the hope of catching the conditions early or even avoiding them altogether! … 2025 Nobel Prize in Medicine! We will be following these advancements to hopefully prevent autoimmune disease for our girls.

The despicable events unfolding in Minnesota, especially in Minneapolis and Saint Paul, are also threatening to overwhelm. I’ll try to write out my thoughts on that soon, but it’s too heavy for my brain to handle right now.

Peace and Love, Jen

“Although the world is full of suffering, it is full also of the overcoming of it.” – Helen Keller