Tuesday, June 21, 2011

Learning about CRMO

Hello Again,

Cooper had his first visit with the rhuematologist since we have been diagnosed.  When we left the hospital we were excited and relieved to find a diagnosis with a positive looking outcome.  However, now we are discovering this is going to be a long and painful process with many potential complications along the way.

CRMO is a very rare disease and very little is know about it here in the US.  There have been more extensive research done in Germany and Asia. 

Cooper has currently been taking naproxen for the inflammation and zantac to protect his organs from the harmful effects of naproxen.  This is for treatment of the symptoms themselves.  We are now being placed on Enbrel, which is an injection he will take twice a week to help lower his over active immune system.  Which will make him more susceptible to infections and other diseases.  So we will have to be very careful about who and what he is exposed to.  Which we will monitor through continuous blood test.

When we visited the rheumatologist on Friday Cooper was doing very well with walking and he could even jump a little bit.  However, when we went back on Monday for a check up with orthopedics, he was and is not able to walk very well at all.  He complains of pain and is barely able to stand.  So we are now starting our first round of steroids.  They say he should have better mobility after a few days of the steroids.

we are waiting for our insurance to approve the use of enbrel and we will go back to the doctor to learn how to administer the injections.

On top of all of this, the doctors have discovered a heart murmur in Cooper.  So we will be having an echo done on Friday. 

Cooper is very excited about his upcoming birthday party on July 2nd.  He specifically requested a tractor theme and we are going to have a HUGE water slide, pizza (his favorite) and lots of fun!!  Everyone who has loved and supported Cooper and us is invited!!

Love you ALL!!!
The Cannon Family

Tuesday, June 7, 2011

DIAGNOSIS.....Can I get an AMEN?!

Hello Everyone,

I first want to thank everyone for all their thoughts and prayers while we were in the hospital.  It was a very stressful time, but we are so blessed to have so many wonderful people in our lives to help us through this time.

We were first admitted into the hospital because the last MRI showed numerous lesions and fractures throughout Coopers pelvis and legs.  We had to be admitted through emergency room in the hospital and that was an all day ordeal.  They could not figure out what floor we were to be admitted to (neurology, hemotology, orthopedics....)  They finally decided we needed to be on the hemotology/oncology floor. 

Once we were there they began to call in the different teams of doctors, which included neurology, hemotology, orthopedics, infectious disease, nutrition, gastro-intestinal, endocrinology, and general pediatrics.  Each team had 4-5 doctors and we would see them 1-2 times a day.  Which averaged 30-40 doctors a day, all of which told us they had no idea what was going on with Cooper.  This was not encouraging. 

They decided to do a bone biopsy on Coopers leg and take a piece of bone directly from an area that showed a lesion.  As long as he was sedated hemotology decided to go in and take bone marrow from each hip and a small piece of bone from his hip as well. 

Cooper has been officially diagnosised with Chronic Recurrent Multi-Focal Osteomyelitis.  Which is;

Chronic recurrent multifocal osteomyelitis (CRMO) is a rare condition (1:1,000,000), in which the bones have lesions, inflammation, and pain. Its definition is evolving. Many doctors and articles described CRMO as an autoimmune disease that has symptoms similar to osteomyelitis, but without the infection. Some doctors thought CRMO was related to SAPHO syndrome. Cutting edge research now classifies CRMO as an inherited auto-inflammatory but have yet to isolate the exact gene responsible for it. Some specialists believe they have discovered a link between CRMO with a rare allele of marker D18S60, resulting in a haplotype relative risk (HRR) of 18. Other experts found that "mutations in LPIN2 cause a syndromic form of chronic recurrent multifocal osteomyelitis known as Majeed syndrome, while mutations in pstpip2 cause a murine form of the disorder. The roles played by LPIN2 and the human homolog of pstpip2, PSTPIP2, in the etiology of chronic recurrent multifocal osteomyelitis are uncertain but are currently being investigated." (El-Shanti, HI; Ferguson, PJ (September 2007). "Chronic recurrent multifocal osteomyelitis: a concise review and genetic update". Clinical Orthopaedics and Related Research 462: 11–9. doi:10.1097/BLO.0b013e3180986d73. PMID 17496555. ). The professional theories seem to be moving in the direction of an inherited gene.
Due to its inflammatory nature, its recurrent outbreaks, and its lack of any known pathogen, CRMO has been reclassified as an inflammatory disease. This particular classification, autoinflammatory diseases, encompasses both hereditary types (Familial Mediterranean Fever, FMF; Mevalonate Kinase Deficiency, MKD; TNF Receptor Associated Periodic Syndrome, TRAPS; Cryopyrin Associated Periodic Syndrome, CAPS; Blau syndrome; Pyogenic sterile Arthritis, Pyoderma gangrenosum and Acne syndrome, PAPA; Chronic Recurrent Multifocal Osteomyelitis, CRMO) and multifactorial disorders (Crohn's and Beh├žet's diseases). CRMO is not longer considered an autoimmune but rather an inherited, autoinflammatory disease.
Chronic: because it does not go away for a long time. Recurrent: because it comes back. It cycles between active and dormant, symptoms and no symptoms, exacerbation and remission. Multifocal: because it can erupt in different sites, primarily bones. Each outbreak can be in a different part of the body. Osteomyelitis: because it is very similar to that disease but appears to be without any infection.
CRMO was once considered strictly a childhood disease, but adults have been diagnosed with it. The disease tends to range from 4 to 14 years old, with 10 years old as its median age. As stated above, CRMO occurs 1:1,000,000 and primarily in girls with a 5:1 ratio. That means out of six million, there will probably be 5 girls and 1 boy with the condition. Yet, it may be more widespread than this.
Laboratory tests may help discover the inflammation: C-reactive protein level, erythrocyte sedimentation rate, level of peripheral leukocytes, ferritin level, Anti-nuclear antibody, antinuclear antibody level, and rheumatoid factor status. Most commonly, however, it is an MRI or bone scan that reveals the inflammation and/or lesions.
A doctor could easily misdiagnose CRMO as muscle spasms or simple inflammation and routinely prescribe anti-inflammatory medicines, which is the normal treatment for CRMO. Many childhood aches and pains are dismissed as growing pains. Parents might not even realize that the child needs to see a doctor. CRMO has deep pain, swelling, and a possible fever but not always. A limp may be falsely considered as the result of an over-active lifestyle. A parent or doctor may not associate a longer limb with CRMO. Without an xray, mri, or bone scan, the bone lesions will go undetected. A child could be misdiagnosed or undiagnosed; take over the counter anti-inflammatory medicines; and live past the illness.
Parents with sick children want a diagnosis, and doctors want to give them one. CRMO may be a catch-all medical phrase for painful bone lesions that do not have a better diagnosis such as arthritis, rheumatic fever, bacterial osteomyelitis, ewing sarcoma, leukemia, lymphoma, rhabdomyosarcoma, neuroblastoma metastasis, eosinophilic granuloma or Langerhans cell histiocytosis. When all the previous illnesses are ruled out and a bone biopsy turns up negative for any known cancer, bacteria, or fungus, CRMO is usually diagnosed.
Regardless of the diagnosis or lack of diagnosis, the patient is suffering from inflammation and possibly intense pain. As such, the most common prescription is for anti-inflammatory medicines such as NSAIDs and steroids. The goal is to rid (or reduce) the body of inflammation and that should ameliorate (or lessen) CRMO. Antibiotics are not commonly prescribed because there is no bacterial or fungal infection. But some doctors do prescribe the antibiotic azithromycin because, in addition to its antibacterial properties, azithromycin also has anti-inflammatory and immuno-modulatory properties.

So the reason it has taken us nearly 2 years to diagnosis Cooper is because this is a very rare disease in which we know little about.  There is no cure for CRMO, but there is a treatment plan and a strong possiblity that Cooper will not suffer any long term effects.

Kirby, Cooper, Clyde and I are happy with this diagnosis, and are so happy to start moving on with our lives now that we know what is wrong with Cooper and are able to treat him.

Cooper has been on the anti-inflammatories for 2 weeks and he is doing great!!  He has gained 3 pounds, which is great because he hasn't gained any weight since this whole thing began.  He is more energetic and has a much better appetite.  He is already trying to jump!!  He is doing so well and we could not be happier!!

We would like to again express how much we appreciate everyones thoughts and concerns.  It has warmed our hearts to have so many people take an interest in Cooper and his situation and the ourpouring of calls, prayers, and support has helped to guide us through this tough time.  You all are amaing poeple, friends, and family and we are so lucky to have you in our lives!!

Our journey is not over but we feel we have finally climbed a mountain and the future looks AMAZING!!

LOVE LOVE LOVE,
The Cannon Family