NEW DIAGNOSIS, BUT NOT SO NEW DISEASE ACTIVITY....

Thought it was about time to share with those friends and family who keep our children in your prayers and follow The Sloan Siblings Journey. About 6 weeks ago, we were informed by Jake's Pediatric Rheumatologist at Shands Hospital that he has a new diagnosis....... Juvenile Ankylosing Spondylitis.  It has taken a few weeks for us to process this information, learn about the disease and prepare ourselves as how we are going to help Jake manage this complicated, chronic disease, that yes, children can get, too!
 
We thought Juvenile Rheumatoid  Arthritis- Systemic type with Polyartiucular features  was a mouthful for Jake.  Now.....he's got new vocabulary  words and more than a 10 year old should ever have to accept and learn to cope with.  We have not shared all the facts with Jake yet, but he is aware of his new diagnosis, MRI findings and understands this disease primarily focuses on his spine. Juvenile Ankylosing Spondylitis (JAS) is basically a systemic autoimmune disease affecting the joints, heart, lungs, bowels, kidneys and eyes. It is a painful, progressive  type of arthritis that aggressively  affects the spine and  large joints.  Although it can affect any joint, more common joints include: hips, knees, ankles, toes, ribs and jaws. The heels may also be affected(Iachilles tendinitis and  Plantar fasciitis), making it uncomfortable to stand or walk on hard surfaces.  Inflammation in JAS  also occurs in the areas where muscles, tendons, and ligaments are attached to the bone. To help break down the word, "Ankylosing" means stiff or rigid, and "spondyl" means spine and "itis" refers to inflammation.  Over time, the joints and bones may grow together ( fuse), causing the spine to become rigid and inflexible.  These fused bones are brittle and vulnerable to fractures. The lower neck is the most common area for these fractures.  Bones in the chest may also fuse ,causing breathing difficulty, and limits lung capacity. The fusion of the spine can lead to a forward curvature of the spine, a forward-stooped posture. Complications from the disease varies from each child, and JAS does not follow the same course in everyone.

Jake's new diagnosis still shocks us and I tend to try to figure out 'why"?? Juvenile Ankylosing Spondylitis is to be considered a multifactorial condition, meaning  that "many factors" are involved in causing it.  There is no known way to prevent JAS.    The factors are usually both genetic and environmental, where a combination of genes from both parents, in addition to unknown environmental factors, produce the trait. It is also highly associated with the antigen/protein called HLA-B27. JAS strikes young people, typically between 17 and 35 years old and more common to affect males ( 2-3x more common with males than females).Our family does not have any genetic role (nobody diagnosed with AS) and Jake was not born with the HLA-B27 gene. So I often ask, why, why Jake?

Some of the early symptoms of juvenile ankylosing  spondylitis include:
(However, each child with JAS may experience symptoms differently and the severity of symptoms and disability vary from each child.)

• back pain, usually most severe at night, during rest
• early morning stiffness
• stooped posture in response to back pain ( bending forwatrd tends to relieve some pain)
• inability to take deep breath ( when joints between ribs and spine are affected)
• appetite loss
• weight loss
• fatigue
• fevers
• anemia
• enthesitis ( pain at the site of attachment of muscles, ligaments and tendons to bone)
• joint pain
• vague pain, usually in the buttocks, thighs, heels and shoulders
• painful eye inflammation
• organ damage, such as the heart, lungs and eyes 

There is no cure for JAS, and the course of the disease is unpredictable.  It is often said that when a child is diagnosed with JAS, it usually results in a much more severe disease than adult onset of AS. .The children who have JAS have a worse functional outcome (in terms of work disability, functional impairment, quality of life, and spinal involvement) compared to adult onset of AS.  Treatment for Juvenile Ankylosing Spondylitis is individualized but overall the goal is to reduce pain and stiffness, prevent deformities, and to help children like,Jake, maintain as normal lifestyle as possible. Educating ourselves and appropriate mild exercise  is very important. Swimming is ideal,as it avoids jarring impact of the spine.  Exercise programs designed by physical therapists with regular back and chest exercises are crucial to help improve posture, spine mobility, and lung capacity. Hot baths, heat and massages are also beneficial. We are very thankful for Jake's gift of his hot tub from Make-A-Wish Foundation. Jake continues to get weekly full body massages from Ms. Patrice.  ohhhh......we just can't begin to say enough wonderful things about her. Jake would go everyday, if he could.
    

Non-steroidal anti-inflammatory drugs may provide pain relief and decrease morning stiffness, however do not alter the course of the disease. With taking these meds routinely, it can also cause stomach upset, nausea, abdominal pain, diarrhea and bleeding ulcers. Jake has been dealing with these GI issues for a very long time, even after stopping Methotrexate. For those children like Jake who is unresponsive to anti-inflammatory meds, the  use of biologic agents {TNF ( tumor necrosis factor) blocking medications}, such as: Enbrel, Humira, and Remicade are necessary part of treatment. Unfortunately, Jake has been on all of these biologic' s and has continued to fail and not respond in treating his disease effectively. Jake and his sister, Hannah, have both been on Actemra bi-weekly infusions  for the past 16 months.  Actemra was the newest biologic approved by the FDA and is a IL-6 receptor drug. Unfortunately, it has lost it's effectiveness and Jake is no longer responding to it as he had in the past. His fevers are back almost every evening, multiple joints are inflamed and he literally has joint pain in EVERY joint in his body { toes (sausage toes), ankles, knees, hips, back, neck, shoulders, elbows, wrists, fingers, jaws and ribs}. Jake's recent cervical MRI showed "thickening", and his doctor believes it's been there for awhile. It is time to try another drug, but there is nothing new available to try. This is what is so hard to accept.......the disease is not being controlled and we have ran out of options at 10 years old. As of today, we are TRYING to get Rilonacept  (IL-1)approved as a "Fever Syndrome " medication. {It is currently in a closed study- treating Systemic JA.} We are unsure if insurance is going to approve this medication, but we got HOPE on Friday that it just might be a option! Praying hard and anxiously awaiting for a updated phone call from Shands. Jake will not stop any of his current medications, he will be adding Rilonacept weekly  as a second biologic .  This scares me too! For those of you who understand the risks involved in using biologic' s, and the "Black Boxed Warnings" and the lovely side effects of these drugs, especially when used with combing TWO biologic' s.......  I won't even begin to express my concerns and worries there.....     I am fully aware of the serious conditions/infections they can lead to, and even death.  I have had a lot of restless nights and heavy heart trying to process our upcoming changes to control these monster diseases!  Hannah is adding a second biologic- Rituxan this Wednesday, despite her re-occurring impetigo/staph infections. Her cardiologist gave the approval to go ahead and proceed with new treatment plan.{ Rituxan aims to help stop the activation of a certain type of white blood cell- called B cells. With fewer B cells, the over-activity of the immune system deceases}.
So..... we are adding a second new biologic for both Jake and Hannah and praying to get more control of these diseases with no serious infections or problems. Trying not to give up HOPE!

Jake keeps going - pushes through his pain & challenges everyday!

Not much more to share, new fancy name (Juvenile Ankylosing Spondylitis), but this name didn't change how Jake has been feeling or change his treatment plan.  Sometimes it takes a long time to see how disease progresses and to watch for patterns. Unfortunately, JAS is difficult to treat, but we know we are in good hands at Shands and ultimately God is in control. We never give up Hope that God will completely heal Jake and Hannah.  Until then, we only do what we know to do and try to make everyday special! 


Thank you for taking the time to learn a bit more about Juvenile Ankylosing Spondylitis. It's a learning curve for us, and we will continue to support the Arthritis Foundation. As Jake and Hannah and the other 300,000 children need better medication options and a cure!  Our family appreciates the prayers and the support.given by those in our lives!