If you're living with a chronic illness, you're in the right place.

Tuesday, May 20, 2014

In the Spotlight: Autoimmune Hepatitis

8:05 AM Posted by Tiffany Taft , ,
Today's blog entry is written by our awesome summer intern, Jessica Naftaly.

Since we love spreading awareness about rare diseases, we decided to post an additional rare diseases blog this month. May is hepatitis awareness month! Many assume that the ONLY way to be diagnosed with hepatitis is through drugs, drinking too much alcohol, or having unprotected sexual intercourse. Additionally, it is sometimes assumed that all types of hepatitis are contagious. All of these assumptions are untrue. One type of hepatitis called autoimmune hepatitis (AIH) occurs when the body attacks the liver causing inflammation.

Snapshot: AIH is a chronic autoimmune liver condition in which healthy liver cells are mistaken for being foreign and are attacked. The body attacking itself leads to cirrhosis or inflammation of the liver. Overtime without treatment AIH can cause the need for a liver transplant due to liver failure. Although the cause of AIH is not researched well, other autoimmune diseases, environmental factors, and genetics may play a role in AIH development. Symptoms include jaundice, dark colored urine, fatigue, itching, joint pain, nausea, skin rashes, pain in the upper right quadrant of the abdomen, and light colored stool. There are two types of AIH, type 1 and type 2.

How Common is it?
About 0.1-1.2 per 100,000 Americans have AIH. AIH is more commonly seen in females. The disease can show up at any age but is usually seen in ages 10-20 years old or 45-70 years old.

What About Diagnosis and Treatment?
Blood tests can detect elevated liver enzymes, which could be an indication of inflammation. A liver biopsy is the gold standard for diagnosis. Although AIH is not contagious, if untreated it can lead to serious problems. Treatments include medications such as prednisone, azathioprine, and other types of immunosuppressants such as cellcept. Liver transplants are used for patients who do not respond to medication or are in liver failure.

What is the Social and Emotional Impact?
There is stigma associated with the word hepatitis. Some patients with AIH do not disclose their illness for fear of being discriminated. Instead of saying “I have AIH” many prefer to say “I have a liver disease.” Patients who take prednisone may face emotional mood swings, swelling in the face, weight gain, and sleep disturbances that can contribute to difficulty adjusting emotionally and socially. Yellowing of the skin/eyes and uncontrollable itching due to jaundice can make social interactions complex taking a toll on patients emotionally. There is limited research on the social and emotional impact on AIH patients. A study from Yale University School of Medicine, however, found that psychological stress correlated with AIH patients who relapsed.

Helpful Resources
American Liver Foundation
National Digestive Diseases Information Clearinghouse

Saturday, May 10, 2014

Chronic Illness Isn't a Competition

7:48 AM Posted by Tiffany Taft , ,
We see all sorts of illnesses in our practice.  I've talked with hundreds of people who struggle with daily symptoms of varying location and severity, sat with them as they cried with frustration, anger, or even joy.  I've heard horror stories that include the medical field, the workplace, marriages, and friendships.  If there's one common theme among these stories it's that, regardless of the diagnostic label the person has, everyone...EVERYONE...struggles.  So, please allow me to step onto my soapbox for a minute.


I operate from a biased sample because the people I see are seeking help from a therapist to cope with their current situation, so they may be more distressed than the average Joe (or just more willing to accept some help and put the social stigma of mental health aside).  But I also read a lot of message boards and blogs, watch patient videos, and conduct research all to better understand the perspectives of the patients I see.  Not to mention that I, too, live with a chronic medical illness.  There's something I've noticed when it comes to what I like to think of as "illness cousins."

Over the past 20 or so years the medical community has differentiated illnesses that have "organic" root causes and "functional" root causes.  An example of an organic disease is rheumatoid arthritis, ulcerative colitis, diabetes, or systemic lupus erythematosus.  There are definitive diagnostic tests and biomarkers.  When you look at the colon of someone with UC, it's generally not pretty.  Each of these diseases has a cousin, in that there are people with similar symptoms of the organic disease but lack any identifiable organic process.  These are the functional syndromes.  Rheumatoid arthritis and fibromyaglia are cousins.  Crohn's disease and irritable bowel syndrome are cousins.  You get the idea.

I've come across comparisons between the cousins on more than one occasion.  It usually goes something like this:  "There's no comparison between [functional cousin] and [organic cousin].  [Organic cousin] is a disease that causes [insert list of symptoms].  [Functional cousin] doesn't cause any damage.  Sure, [functional cousin] causes distressing symptoms but they're no where near [organic cousin]."

Is this inaccurate?  No.  At face value, this is entirely factual information.  Functional syndromes don't destroy the tissue of a person's joints or their esophagus or their pancreas.  They don't require surgeries (usually) or treatment regimens that come with fatal side effects (again, usually).  On the contrary, most functional syndromes have crappy pharmaceutical treatments that produce results only marginally better than the placebo effect and work in about a third of patients.  This leaves large numbers of people without many options to treat chronic daily symptoms that may significantly impair their day-to-day life.

Think about what that might be like for a second.

To be fair, I should mention that this differentiation also happens among the organic illness club.  I've had a lot of people tell me they've been told "well at least it isn't cancer."  Also, not helpful.

People living with functional syndromes are more likely to experience stigma because their illness isn't perceived as "real."  There are many studies on that including here, here, and here. Patients with fibromyaglia are at increased risk of suicide.  In one survey, 38% of irritable bowel syndrome patients being seen in a gastroenterology clinic had contemplated suicide (compared with 3.7% of the US adult population and 17% - 30% of patients with their illness cousin, inflammatory bowel disease).  IBS patients cited feeling hopeless because of how severe their symptoms were, how much they impacted their life, and lack of adequate treatment.

So it's really frustrating when I see comparisons between a functional syndrome and its organic cousin that essentially dismiss the former as a means to elevate the latter to a more significant status in the chronic illness world.  I understand the need for each of our illnesses to be recognized by the world and not be mixed up with a completely different condition.  I get that.  I've been frustrated when I see major news outlets get IBS and IBD mixed up.  But it's not because I view my plight as worse than my IBS cousins'.  I used to, early on in my diagnosis and before I went to grad school.  Maybe my perspective has changed because I've seen a lot of patients with IBS, including some who've needed TPN to maintain their weight because they can't eat from pain, who have to drink the wonderful gallon of GoLytely bowel prep once a month so they can poop, or have even had their colon removed due to complete colonic inertia.  We do know that prejudice and stigma are reduced by communication and spending time, especially time working toward a common goal, with those we've deemed as outsiders.

On paper, IBS or Fibromyalgia or Chronic Fatigue Syndrome aren't as "bad" as their organic cousins.  But it's important to look beyond that and appreciate the suffering that comes with any chronic condition.  It's not a competition between functional and organic.  They all suck, in their own way.

Best,
Dr. T.

Friday, May 9, 2014

In The Spotlight: Russell-Silver Syndrome

9:49 AM Posted by Stephanie Horgan ,
This month for our "Rare Diseases" topic, I'm blogging about Russell-Silver syndrome (RSS). I picked this disorder as I have a relative who has it, and wanted to learn more about it. Russell-Silver syndrome is one of 200 types of dwarfism and one of five types of primordial dwarfism. The disorder is usually called Russell-Silver syndrome in the United States and Silver-Russell syndrome in Europe. It was discovered in 1953 and 1954 by Dr. Henry Silver and Dr. Alexander Russell. 

Snapshot:
  

RSS is a condition present at birth, that involves poor growth, low birth weight, short height, and size differences (asymmetry) in parts of the body. Other signs and symptoms may include poor appetite; low blood sugar as a result of feeding difficulties; lack of interest in eating; a large head relative to the body; a small, triangular face with a wide protruding forehead and small, narrow chin; down-turned corners of the mouth; high arched palate; delayed development; learning disabilities; birthmarks;  a pinky finger that curves toward the ring finger; webbing of the 2nd and 3rd toes; narrow, flat feet; delayed bone age; failure to thrive; gastroesophageal reflux disease; kidney problems; short arms;  and delayed stomach emptying and constipation. Not all of these symptoms are present in every person with RSS. Most people have no family history of this illness and only 60% of people with RSS have a genetic abnormality. Males and females are affected equally. This disorder does not affect life expectancy. 

How Common is It?

The estimated number of people who develop this condition varies greatly. Some sources say it affects about 1 in 3,000 people. Other reports say it affects 1 in 100,000 people.
What about Diagnosis and Treatment?
There is no specific blood test for RSS, but a child's pediatrician can diagnose RSS by performing a few other tests such as blood sugar, bone age testing, chromosomal testing, and skeletal surveys. If there is a chromosomal abnormality, it will typically be on the 7th or 11th chromosome. 

If necessary, RSS can be treated using growth hormone replacements. Other treatments can include physical therapy to improve muscle tone, nutritional therapy to prevent low blood sugar and encourage growth, and speech therapy. Some children may have learning disabilities or problems talking or eating because their jaw is small. 
What is the Social and Emotional Impact?
Having a child diagnosed with a rare disorder can be extremely stressful for parents and other family members. Family dynamics may shift. Going to various treatments can become the main focus, leaving little time for anything else. Parents may experience guilt, depression, resentment, or anxiety when facing a diagnosis of RSS. Emotional support for both the family and person with RSS can be helpful. 


The social and emotional impact on the individual with RSS also varies widely. Different individuals might have different severities of RSS.
If there are many physical abnormalities, a child might be self-conscious, or endure teasing or bullying from others. Having speech or eating or learning disabilities can create challenges that the child will need special therapies for. The cost of these therapies- and of growth hormone medications- can be daunting for the family. Because of the small stature of some people with RSS, finding clothes in their size can be difficult as well. 

Not many research studies exist about the social and emotional impact of RSS, but there are many studies on the impact of dwarfism. One study I was able to find specifically on RSS was a small qualitative study from Taiwan on the f
amily caregiver distress that goes along with RSS. Parents worried about their child feeling different from others and about their future development. They had endured much stress from the child's illness and were frustrated by the lack of knowledge from physicians, and the unpredictability of the illness. 
This study highlighted the need for psycho-education around positive dynamic family interactions, life-stage development and family caregiver support systems. 

Helpful Resources:

The MAGIC Foundation- Provides information and opportunities to chat with other families affected by RSS, or join a private Facebook groups for parents, kids, or adults. 
RSS People- An online magazine for those affected by RSS including fashion links for clothing sites

Monday, May 5, 2014

The Art of Misdiagnosis - Revisited

5:17 AM Posted by Tiffany Taft ,
Over the weekend, I had to put my dog to sleep.  He was 3 weeks shy of his 7th birthday, and while he was a boxer - a breed prone to certain health problems - he was healthy up until about 6 months ago.  However, I never thought within a matter of days of taking a bad turn he'd be gone.  What does this have to do with a chronic illness blog, you may be asking?  As you can imagine I've done a lot of thinking about what the hell exactly happened to my buddy and how it got out of hand so fast.  I've spent a lot of time blaming his vet, who missed the correct diagnosis back in December entirely.  But I have to lay some blame on myself for lack of follow-up until things got bad.  I do have my reasons, and they revolve around an inherent lack of trust in veterinarians based on past experiences.

My buddy around 6 weeks old.
Don't get me wrong, there are wonderful vets in the world who get it right and save pets' lives every day.  This isn't a post to bash the field.  But I also know I'm not alone in my poor experiences, having talked with friends who voice similar frustrations in finding someone they can trust.  And I live in Chicago, where there are probably about 8,000 vets to choose from (that number is not based on any valid data, just one I pulled out of thin air because I'm too lazy to look it up). 

I've already written about misdiagnosis in those living with chronic illnesses, and cited some pretty alarming statistics on how long it can take to get an accurate diagnosis of something like Lupus.  Thinking about what happened with my dog, I also thought more about my thinking during the whole thing and noticed a few themes that may resonate with some of you.

"Why should I bring him back, they're not going to get it right anyway?"  This is where I lay fault with myself.  Overall, my dog was healthy but was eating, drinking, and peeing a lot more; telltale signs of Cushing's disease, but I was told in December that he didn't have that, rather it was likely a bladder infection.  Because he wasn't putting on weight, the vet wasn't concerned about the eating.  In actuality, he ended up losing about 10 lbs because of the muscle wasting that happens with untreated Cushing's. For those trying to find out what the cause of their continued symptoms is, I can imagine similar thoughts going through their mind.  The key to the doctor-patient relationship is trust, and being told the wrong thing by someone who's the expert leads to obvious erosion of that trust.  The hard part is not to generalize negative experiences with a few doctors to all doctors and stop going in when follow-up is clearly warranted.

"All they want to do is order expensive tests."  This thought was usually followed by the first thought.  We don't have pet insurance so everything was out of pocket.  There's been a lot of discussion about the uninsured in our country and the importance of not letting financial concerns get in the way of access to quality healthcare.  It was troublesome to have to consider costs with my dog, which were in the thousands of dollars in a matter of days, I can't even fathom having to weigh this for myself or a loved one.

"They're making assumptions based on his breed."  Between Wednesday night and Saturday afternoon I was told my dog had metastatic cancer to his lungs (he didn't) and cardiomyopathy (unknown) by 2 different emergency vets. In between these 2 fatal diagnoses, he was accurately diagnosed with Cushings, but unfortunately it was too late to do anything about it. The ER vets made assumptions about him because he was a boxer, a breed prone to both cancer and cardiomyopathy. Anecdotally, I know this happens in the human medicine world as I've heard stories from my clients.  Research on stigma tells us that physicians make assumptions about patients who are obese, mentally ill, or addicted to substances and may not provide the same level of care as they would to someone not in one of these categories.  Gender, racial, and ethnic differences also exist in patient satisfaction (women and racial/ethnic minorities tend to be less satisfied).  I would guess sexual orientation and identity also play a role.

"They're not focusing on the problem at hand."  This last thought kind of combines the previous 3 in that I felt that the vets I've seen, whether it was for my dog or other pets I've had who have had health issues, get off on a tangent.  For example, when I took in my 16 year old cat a year ago the vet was more focused on him needing his teeth cleaned than what turned out to be colon cancer (completely missed until it was, again, at its worst stages).  When the ER vet started talking about cardiomyopathy I became frustrated that he was ignoring the possibility that my dog's symptoms could have been brought on by heart damage from the untreated Cushing's. When I asked outright, he said it was possible but not likely because of his breed (see point 3).  Clients that I see will sometimes talk about feeling "medicalized" and that they've been sucked into the system never to escape and return to their normal lives.  Many illnesses require periodic monitoring or screening, whether it's blood tests, scopes, or scans, to make sure the disease isn't active.  While important, these can also have a negative psychological impact of having to think about their illness that may otherwise be quiescent, and worry about "what if" the test comes back abnormal.  Sometimes the test finds an entirely new problem, leading to another diagnosis and more treatments.  It can be quite the emotional roller coaster.


My buddy at 6 years old.
Whether it's a pet, yourself, or a loved one I truly hope you don't share in these experiences.  What I wanted to highlight here was how my overly negative thinking affected what I did in this situation.  Do I think some of my beliefs were warranted based on my experiences?  Sure, but in the end they didn't really do much to help my dog.  I'll never know if he would have been helped, really, because I don't know what ultimately did him in.  If you're going through a frustrating process of finding answers to your health concerns, check your thoughts and how they might be influencing your choices.  

Best,
Dr. T