2016 marks the ninth year that the international rare disease community celebrates Rare Disease Day. On Feb. 29, people living with or affected by a rare disease, patient organizations, politicians, carers, medical professionals, researchers and industry will come together in solidarity to raise awareness of rare diseases.
The Rare Disease Day 2016 theme ‘Patient Voice’ recognizes the crucial role that patients play in voicing their needs and in instigating change that improves their lives and the lives of their families and carers.
The Rare Disease Day 2016 slogan ‘Join us in making the voice of rare diseases heard’ appeals to a wider audience, those that are not living with or directly affected by a rare disease, to join the rare disease community in making known the impact of rare diseases. People living with a rare disease and their families are often isolated. The wider community can help to bring them out of this isolation.
Following is a ‘Patient’s Voice’ from Poland, Oh., about her journey with AVN (Avascular Necrosis):
Hello, my name is Debbie. I have AVN in my knee I found out in Dec. of 2014. I am not sure exactly how I got AVN or really how long I had it the Doctors do not either.
They feel I may have developed AVN when I was exercising and tore my meniscus and hurt my patellar. I went to my Dr. after doing some exercise and experienced a lightening bolt hit my knee,that did not go away, he did some tests, and wanted to send me for MRI to confirm the meniscus tear which it did, but to my surprise I also that day was diagnosed with Avascular necrosis.
I was told my knee looked like butter. Dr. felt TKR (Total knee Replacement) not an option at this time, as he said TKR may last 10 yrs., so we should wait,the only problem with waiting is it can lead to the bone collapsing, so I was told told limit my weight bearing. No one wanted to even repair my torn meniscus as they said it can lead to even more complications.
Words cannot really describe the pain I have most days,it can be unbearable,draining,simple things are now so very hard like walking up stairs or down stairs,There are days I force myself to move and cry later in the day from pain and frustration. Most days it feels like there is a tourniquet above and below my knee , the pressure is intense and pain is always there ,plus its very cold to the touch while inside it feels like its on fire.
I had a few opinions and basically was told the same thing. The feeling of frustration set in,the more help I tried to find the more I found out many don’t know about this rare disease nor the cause,or really how to treat it.
In todays age of Rejuvenation Medicine and saving your joints why can I like so many others worldwide can not find anyone to help .
You see today we have Stem cell therapy, Prolotherapy, PRP(Platelet-Rich Plasma) to help the joints from further damage, however finding someone to do it in NE Ohio is a chore all its own, and in my research not many treat it in the USA, they are few and very far between. Plus its rarely if ever covered by any insurance and can range from 1800.00 to 10.000 depending on what you have done. So my quest began, if I was feeling this frustrated what were others feeling, as when you have ON/AVN you have constant pain, It is second only in pain to bone cancer, the death of the bones/joints are the same.
Treatments for it are mostly surgically interventive, with no way to predict or guarantee outcomes or results.
ON/AVN does not respect age, gender, or ethnic background; it can strike anyone at any time. Of the 20,000 joint replacements in the USA every year, at least 20 percent of them are due to ON/AVN.
ON/AVN is still considered a rare condition with not all orthopedic doctors being equally experienced in diagnosing and/or treating it.
So Valuable time is lost in trying to treat the patient,sometimes leading to a collapsed or otherwise destroyed joint.
Very little research is on-going for ON/AVN, as expected with any ‘orphan disease’, or a disease that has a growing number of patients but has not yet reached the numbers of more wide-spread conditions, such as heart disease or cancer.
There is no known cure for ON/AVN. We desperately need to turn this around.
ON/AVN is caused by a blockage or loss of blood flow to a joint or bone, causing the joint/bone to die. Usually, but not always, the hips are first affected, then, other joints may follow. However It can strike any bone or joint in the body. The bone tissue/joints actually die, just like heart muscle tissue dies from a heart attack.
Since 2014 I have been on my own mission, to raise awareness, I started a support group on FB called Avascular Necrosis Lets spread The word to get more and better research: and I have been doing what I can to help others learn about AVN.
In our FB group we talk about our pain, the frustration of not finding Doctors that are experienced in treating ON/AVN. New Treatments like stem cell, prolotherapy and prp. Stem cell being the gold standard. But again finding someone to administer this type of treatment is very hard.
I started a quest: I started calling Doctor after Doctor (orthos) state wide to see who was experienced in ON/AVN; I have compiled a list for people looking for Doctors with experience in treating this rare disease.
Now I am working on a list worldwide. Osteonecrosis aka Avascular Necrosis its also known as aseptic necrosis, and ischemic necrosis, and in young children its known as Legg–Calvé–Perthes disease (LCPD).
There are many ways to get ON/AVN here is a list :
What Causes Osteonecrosis?: Osteonecrosis is caused by impaired blood supply to the bone, but it is not always clear what causes that impairment. Osteonecrosis often occurs in people with certain medical conditions or risk factors (such as high-dose corticosteroid use or excessive alcohol intake). However, it also affects people with no health problems and for no known reason. Following are some potential causes of osteonecrosis and other health conditions associated with its development.
Steroid Medications: Aside from injury, one of the most common causes of osteonecrosis is the use of corticosteroid medications such as prednisone. Corticosteroids are commonly used to treat inflammatory diseases such as systemic lupus erythematosus (SLE), rheumatoid arthritis, inflammatory bowel disease, severe asthma, and vasculitis. Studies suggest that long-term use of oral or intravenous corticosteroids is associated with nontraumatic osteonecrosis. Patients should discuss concerns about steroid use with their doctor.
Doctors are not sure exactly why the use of corticosteroids sometimes leads to osteonecrosis. They speculate that the drugs may interfere with the body’s ability to break down fatty substances called lipids. These substances then build up in and clog the blood vessels, causing them to narrow and to reduce the amount of blood that gets to the bone. Some studies suggest that corticosteroid-related osteonecrosis is more severe and more likely to affect both hips (when occurring in the hip) than osteonecrosis resulting from other causes.
Alcohol Use: Excessive alcohol use is another common cause of osteonecrosis. People who drink alcohol in excess can develop fatty substances that may block blood vessels, causing a decreased blood supply to the bones.
When a fracture, a dislocation, or some other trauma to joint injury occurs, the blood vessels may be damaged. This can interfere with the blood circulation to the bone and lead to trauma-related osteonecrosis. In fact, studies suggest that hip dislocation and hip fractures are major risk factors for osteonecrosis.
Increased pressure within the bone may be another cause of osteonecrosis. When there is too much pressure within the bone, the blood vessels narrow, making it hard for them to deliver enough blood to the bone cells. The cause of increased pressure is not fully understood.
Other risk factors for osteonecrosis include bloodclots,any damage to arteries,radiation therapy, chemotherapy,radiation, and organ transplantation (particularly kidney transplantation). Osteonecrosis is also associated with a number of medical conditions, including cancer,Pancreatitis, SLE, blood disorders such as sickle cell disease,blood clotting disorders HIV infection, Gaucher’s disease, and Caisson disease,Individuals with the C677T gene mutation suffer from methylenetetrahydrofolate deficiency. This mutation is associated with heart disease, stroke, high blood pressure, high blood pressure during pregnancy (preeclampsia) and hyperhomocysteinemia.
Osteonecrosis (Avascular Necrosis) is classified in stages referring to how far the disease has progressed. There are the Ficat and the Steinberg Classification systems. Most orthopedic doctors use the Ficat classification system to determine at what stage your disease is. The stages are as follows:
Stage 0: Patient is asymptomatic; Radiography findings are normal; Histology findings demonstrate osteonecrosis.
Stage I: Patient may or may not be symptomatic; Radiography and CT scan findings are unremarkable; AVN is considered likely based on MRI and bone scan results (may be subclassified by extent of involvement [see below]); Histology findings are abnormal.
Stage II: Patient is symptomatic; Plain radiography findings are abnormal and include osteopenia, osteosclerosis, or cysts; Subchondral radiolucency is absent; MRI findings are diagnostic.
Stage III: Patient is symptomatic; Radiographic findings include subchondral lucency (crescent sign) and subchondral collapse; Shape of the femoral head is generally preserved on radiographs and CT scans; Subclassification depends on the extent of crescent, as follows: Stage IIIa: Crescent is less than 15% of the articular surface; Stage IIIb: Crescent is 15-30% of the articular surface; Stage IIIc: Crescent is more than 30% of the articular surface;
Stage IV: Flattening or collapse of femoral head is present; Joint space may be irregular; CT scanning is more sensitive than radiography; Subclassification depends on the extent of collapsed surface, as follows: Stage IVa: Less than 15% of surface is collapsed; Stage IVb: Approximately 15-30% of surface is collapsed; Stage IVc: More than 30% of surface is collapsed.
Stage V: Radiography findings include narrowing of the joint space, osteoarthritis with sclerosis of acetabulum, and marginal osteophytes.
Stage VI: Findings include extensive destruction of the femoral head and joint.
Treatment of ON/AVN: Medications and therapy: In the early stages of avascular necrosis, symptoms can be reduced with medication and therapy. Your doctor might recommend:
Nonsteroidal anti-inflammatory drugs, Osteoporosis drugs, Cholesterol lowering drugs, blood thinners, rest, reducing the weight and stress on your affected bone, or electrical stimulation.
Because most people don’t start having symptoms until avascular necrosis is fairly advanced, your doctor may recommend surgery. The options include:
Core decompression; bone transplant (graft); bone reshaping (osteotomy); joint replacement; and regenerative medicine treatment Stem cell injections, Prolotherapy, PRP. Bone marrow aspirate and concentration is a novel procedure that in the future might be appropriate for early stage avascular necrosis of the hip. Stem cells are harvested from your bone marrow.
In children Legg–Calvé–Perthes disease (LCPD) is a childhood hip disorder initiated by a disruption of blood flow to the ball of the femur called the femoral head. Due to the lack of blood flow, the bone dies (osteonecrosis or avascular necrosis) and stops growing.
The disease is most commonly found in children between the ages of 4 to 8 but it can occur in children between the ages of 2 to 15.
Since this is a Rare Disease: My goal is to spread awareness so maybe we can someday have better research, better treatment options, affordable options,and hopefully a cure.
In closing Rare Disease Day is Feb 29th , celebrated on the 28 during non leap year. Please help me Raise awareness for Avascular Necrosis Lets Spread the word to get more and better research.
If you have AVN or a family member you’re welcome to join our group in FB, https://www.facebook.com/groups/DeadBoneDiseaseAVN/. Also, visit www.rarediseaseday.org for more information.