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!!

The Cannon Family

Friday, May 13, 2011

Friday the 13th - The Results

Good Afternoon,

I posted earlier on Facebook that the results of Coopers MRI, XRays, and CT Scan yesterday were not good. Here is why...

Our neurologist called us me this afternoon.  She wanted to speak to Coopers other doctors before she called me, but could not get ahold of anyone.

The radiology repost showed multiple focal bone abnormalities on both his legs and on his spine.  They also noted insufficiency fractures, or stress fractures.  They suggested lukemia as a concern.  They suggested we be admitted today, however Cooper is in a great mood and did really well at physical therapy this morning.  From our previous experience at hospital's we know that not a whole lot is accomplished on the weekend.  So we will be admitted on Monday morning, when all of his doctors are available to discuss what our next step should be.

These results could also mean a bone disorder, infection, etc....

So please continue to pray for us and for Cooper.  I also ask for prayers for Clyde, who is too little to understand why his parents spend so much time with his brother.  We love both our boys SO much and hope to give attention as equal as possible.

Love Always,
The Cannon Clan

Wednesday, April 27, 2011

Muscle Biopsy Results-4/26/2010

Hello Again to all my faithful friends and family!!!

I posted a short Facebook update yesterday on the muscle biopsy results, but I will go into further detail.

First of all the biopsy showed an increase of mitochondria in his muscles.  This can be and indicator of a muscle disease, but when they went in and analyzed the mitochondria make up, they appeared normal.  A good assumption would be that there are an increased number because the muscles are needing the increased energy to function.  Which is common, like when the body produces more white blood cells when you have the flu.  There were some other abnormalities in the muscle, IE.  in fibers 1 and 2....  These are details that go way above my head, however the muscle disorder neurologist is requesting a few more test to be conducted on the muscle, one of them being a die test to check the collagen levels.

Because this muscle biopsy was, for the most part, inconclusive.  We are going to continuing further test.  If you all remember that in previous MRI's Coopers' L1 vertebrae was giving off a different color then the other vertebrae.  We did the bone biopsy which came back normal.  We are going to do another MRI and CT scan on the spine to see if there has been any changes.  Also, we will go back to rheumatology and we may put him back on Naproxen, which is an anti inflammatory to see if there it helps him as it did last time. 

Unfortunately with chronic problems such as Coopers, cancer is still a concern.  We also see hematology again, and see if they have any suggestions or concerns.  Along with this long list of doctors, we will be seeing a nutritionist, because Cooper has not gained a pound since all of this has begun.  He has been 30lbs for over a year now.  We will also be seeing gastric intestinal doctors as well.

In the mean time we have contacted Johns Hopkins and are in the process of obtaining an appointment with them.  Also, the doctors told us about an undiagnosed muscle disorder research study being conducted in Boston.  We are going to call today to see if Cooper is a candidate, if so they will work with Texas Childrens to obtain samples and we do not even have to go to Boston to be apart of this study.

We begin another round of physical therapy this Friday as well.

So basically, the doctors said we will start back to the beginnign of testing to see if anything has changed. 

Cooper is an amazing little boy!  He has no fear in the doctors office and lets them check his legs, feet, arms, weight, height, blood pressure, and if they ever don't look at something that they normally do, such as his temperature, he tells them "Okay now take my temperature."  We are lucky to have such a calm and understanding kid.  I sure hope we can figure all of this out, before his patience runs out.

Thank you to everyone who has given us a kind thought and have sent prayers up for Cooper.  Please keep praying and hoping!

Love Always,
The Cannon Family (especially Cooper)

Friday, March 11, 2011

Biopsy and Physical Therapy

It's Friday.....

I just wanted to post a quick update on Cooper.  We went on February 22nd for Coopers muscle biopsy.  Everything went well, the procedure was quick and he has recovered quickly.  The doctors estimate a month before we receive any results.  Kirby and I are patient about this, because in the past things have been done in a hurry and we have been through many mis-diagnosis that we want them to be thourough and give us a soild answer. 
If this test does come back normal, they have 5-6 more test they would like to run, one of them being a more extensive EMG since the previous one he had at Memorial Hermann was only for the lower half of his right leg.  If all of these test come back normal, they will recommend us to Johns Hopkins in Baltimore.  So right now we are taking everything step by step, day by day.

Also, in January they recommended us to start back with physical therapy.  I have been pessimistic about physical therapy because they have told me in the past that Cooper needs to build his inner thigh muscles.  I worry that he is incapable of building these muscles and become discouraged if we continued to push him to do something he can not do.

With that being said, I have been getting antsy about waiting on these test results and called about starting Cooper back in PT this last week.  They poriginally told me that they would not have an opening for us until May.  However, on Tuesday they called me at 8:30am and asked is we could make a 10am appointment.  Luckily they are located on FM 1960and my boss was being understanding that day ;) So we loaded up and headed that way.  The PT took her time evaluating Cooper and discussing the past medical history and she had read some of the paperwork.  (there is a lot to read, so I feel luck when doctors read any of it!)  Whe she began discussing the treatment plan and the next steps I begin expressing my apprehensions.  The PT then told me that she agrees with me and that Cooper has something preventing him from building his muscles.  In watching him interact and play, Cooper was trying to do as much as he physically could.  She said his activites alone should be helping to build his muscle, and that if he was able to function normally at one time he should be able to walk, run, jump, like a typical 3 1/2 year old should.  Also, she feels that Cooper is weak overall, in his legs, upper body and core.  This was such a relief to hear the PT agreeing with what Kirby and I are seeing as parents. 
So she will be writing a report to our doctors, recommend the types of physical therapy she would like to do and we will wait to hear when we will be scheduled for regualr therapy.

So that is where we are today.

Again, I'd like to thank everyone who has been following our blog and Coopers journey. 
The Cannon Family

Friday, February 18, 2011

Friday 2/18/2011

Good Evening,

I am going to try and keep this post brief, but I just wanted to update everyone on what is going on with Cooper.  A few weeks ago, we met with the pediatri surgeon and he agreed that Cooper is a candidate for the muscle biopsy.  So this Tuesday, February 22nd, we will be going to Texas Children's for day suregry and they are going to remove a piece of muscle from his leg about the size of his pinky.

I have to admit, this is the first procedure that is really wearing on my mind and heart.  Cooper is so tiny, and his legs are so little,  a piece of muscle the size of his pinky is really a large piece to take out.

Out of all the blood test we have been running lately, they have all come back normal, and his white blood cell count and sed rate are back in normal ranges.  These are good things, but Cooper still has not been improving with his walk or stability.

After we spoke with the pediatric surgeon, we were asked to swing by the neurologist office, and she pulled in the neurologist who specializes in muscle disorders.  He examined Cooper and agreed the next logical step would be this biopsy.  Of course I asked if there were conditions in which the disorder does not show up in blood test.  He would not meantion the names of any to us, which is probably for the best, because Kirby and I would be googling and worring......

So we will call on Monday to find out the time of surgery for Tuesday.  The results can take up to a month to come back, but we've been waiting for over a year already, so what's a month.....

I will keep everyone updated when we find anything out.

Love Always,
The Cannon Family

Tuesday, January 25, 2011

Nuerology 1/25/2011

Hello Again,

I know it has been awhile since my last post, but to be honest there has not been too much to tell until today.  We had several test run during December and the good news is that they all came back normal.  This includes the biopsy of his spine. 

We have not seen any improvement in his walking or energy.  We did have an appointment with PMN&R at Texas Childrens'.  Which is just a fancy name for a doctor of physical thereapy.  Of course physical therapy was recommended again along with speech thereapy.  So with periodic phone calls with our neurologist we discussed treating him with physical thereapy and possibly trying Cooper on a trial period of a medicine for dystonia.

Today we saw a different neurologist at Texas Childrens that specializes in movement disorders.  She asked Cooper to walk and immediatly noted that he was having severe muscle weakness.  This is something we have already noticed, however, she noticed that his muscle weakness was in his upper body as well as his lower body.  So we are now leaning towards a muscle disorder.  There is ANOTHER neurologist that specializes in neurological muscsle disorders.  We will be seeing him as well.  The doctors are now starting to see his muscles degenerating.

They wanted us to test him when he was having one of his "can't walk" moments for his potassium levels.  And considered having his admitted for this and other testing.  While we were there he had was unable to stand on his own, so they went ahead and drew blood right there in the doctors office. 

We will be heading back to Texas Childrens on Thursday to test his heart.  Since the heart is a muscle they are worried he might start developing heart problems as well.  Then we will be having a muscle biopsy done in the beginning of February. 

Basically we are now leaning towards a muscle disorder, but when we asked them to give us an idea of what they were thinking, they told us they would rather not alarm us.    So we are back to the testing and waiting phase. 

Please continue to pray for Cooper.  Thank you to everyone who has been following are journey.  Your enecouragement means so much!

Love Always,
The Cannon Family