Interview with Rachel: A Patient with Idiopathic Juvenile Osteoporosis
Today we will be interviewing a brilliant young lady, sixteen years old, with idiopathic juvenile osteoporosis (IJO). This story will chronicle Rachel’s incredible journey with early-onset osteoporosis with many fragility fractures.
According to the National Institutes of Health, “Idiopathic juvenile osteoporosis (IJO) is a primary condition with no known cause. It is diagnosed after the doctor has excluded other causes of juvenile osteoporosis, including primary diseases or medical therapies known to cause bone loss.”
“This rare form of osteoporosis typically occurs just before the onset of puberty in previously health children. The average age at onset is 7 years, with a range of 1 to 13 years. The good news is that most children experience complete recovery of bone (National Institute of Health, 2010).”
Rachel’s first fracture of the foot occurred in the 6th grade, with many others to follow. In all, Rachel has sustained nine or more non-traumatic fractures and stress response episodes, and is currently being treated with biannual Reclast ® infusions.
Rachel’s mom describes her daughter as “an active beautiful young lady who faces the day to day challenges of this condition with a great deal of grit and grace. Her school administration was stunned to understand just recently the extent of her daily pain given how well she performs academically and socially. Although she had to give up ballet, which is her first love, she is active in choir, orchestra and is the incoming president for National Honor Society. Rachel loves to travel and learn about new cultures; her other passion is all things French!”
Rachel’s story began with recurrent fractures that were thought to be caused by a high level of activity in Pointe ballet and Lacrosse. Her doctors initially felt that her high-level activities were the cause of recurrent non-traumatic foot fractures; but had to concede after she sustained so many of them, since she is a healthy young lady. She also sustained other fractures of the sacral spine and facet joints, which prompted her withdrawal from her beloved ballet and the Lacrosse team.
Welcome Rachel! We’re all looking forward to hearing your story and the impact it must have on your life. We are hoping to raise awareness for this disorder, since not much is known about IJO, and many readers may not have heard of this disorder before. Most people feel that bone loss is an older woman’s disorder and we’d like to show that, unfortunately, young people get osteoporosis too. So let’s get started.
Rachel, when you were first diagnosed with IJO, did you know anything about early-onset osteoporosis or its causes? What did you do to educate yourself?
Before I was diagnosed with the disease, I thought that osteoporosis was a disease that only affected grandmas. I had no clue that someone as young as myself could develop osteoporosis. Because my family and I knew almost nothing about IJO when I was first diagnosed, we really relied on my IJO doctor, Dr. Lee, to educate us about my situation. We also did a lot of research on the internet to further our knowledge about IJO.
**I would imagine that getting a diagnosis like this, after so many tests to rule out secondary causes of bone loss, had to be very difficult to handle for you and your family. What did you do to stay positive and move forward through your fractures, rehabilitation, recovery and treatment? **
Although staying positive is really difficult sometimes, my family has really helped me with the whole process. Another thing that helps me is keeping my disease in perspective. Visiting Texas Children’s Hospital, I see so many kids who are sick with diseases that are a lot worse than mine. I just have to remember that I’m going to make it through this and that I should be thankful for what I am blessed with.
Did you and your family have a hard time finding a doctor that could treat this disorder, and what type of doctor did you eventually find? Do you have more than one specialist that handles all the differing aspects of treatment, and are you happy with them?
I’m very lucky because my aunt actually works in the Houston healthcare system, so she was able to refer us to an amazing doctor. I’ve been seeing Dr. Lee since the start of this whole process, and he specializes in spinal dysplasia. He deals with the bulk of my osteoporosis problems, but I also see an orthopedic surgeon, Dr. Phillips, whenever I have fractures. To say that I’m happy with my doctors would be an understatement. They are always going out of their way to make sure that I am both happy and healthy. I couldn’t have asked for a better doctor than Dr. Lee.
According to the National Institute of Health some patients with IJO present with spinal curvature, sunken chest or other physical abnormalities; did you have any of these problems? If not, did this delay your diagnosis of IJO since you didn’t have any of the possible visible symptoms?
When I was diagnosed with IJO I looked like a fit and healthy ballerina. I didn’t present any of the above symptoms. This definitely delayed my diagnosis because I looked like a healthy kid on the outside, but inside I really wasn’t.
I understand it wasn’t until your 7th fracture and your subsequent withdrawal from ballet that you started daily Actonel ®. Did Actonel cause any gastrointestinal problems, joint pain, esophagus troubles or any of the other listed side effects? If so, what did you do to counteract these?
After starting Actonel, I had a lot of stomach pain and intestinal problems. I had to take acid reducers in order to counteract the side effects of Actonel. I also experienced bone pain, and took ibuprofen for relief.
At some point you stopped Actonel and then started Reclast, was this due to your decline in bone density scores, or were there other reasons for stopping Actonel?
I stopped Actonel and started Reclast for two reasons, the first being my reaction to the Actonel. For me, the benefits of Actonel seemed to be outweighed by the pain it was causing me. At the same time when we were considering other options besides Actonel, I did another DXA Scan and my Z-Score had dropped to a -3. Between my significant bone density drop and my reaction to Actonel, with the help of Dr. Lee we decided to try Reclast.
Now that you are on biannual Reclast, are you having any problems with its side effects, or is it helping with some of the fracture symptoms, like pain?
Reclast has been really great for me. I have not had any problems with side effects. Instead, the Reclast has actually helped my pain in some ways. For a few weeks after the infusion, my fracture pain in my back subsides and I feel better for a period of time.
Do you prefer getting an infused medication over taking a daily oral osteoporosis med, which can be very difficult to take with all its postural and food restriction rules?
I definitely prefer an infused medication over a daily medication. The people at Texas Children’s make the Reclast process so easy. It was difficult to stick to the instructions around taking Actonel because they were kind of restrictive. I’d pick Reclast over Actonel any day.
How much daily vitamin D and calcium does your doctor recommend? Do you have a specialized weight-bearing exercise routine since you’ve had so many fractures and need to be careful?
Based on Dr. Lee’s orders, I take 2,000 mg of calcium and 2,000 IU’s of Vitamin D every day. I do physical therapy and walking for weight-bearing exercise, but I definitely miss my old athletic activities.
Do you know if the Actonel or Reclast has improved your DXA scores, or does your doctor check your bone markers to see if you are improving on these meds, in between DXA’s?
My last DXA was in July of last summer and my first Reclast was last August, so I have not had a DXA Scan since. Dr. Lee has me do blood tests at certain marks after my Reclast infusions to monitor my progress, and as of my last round of tests, my bone turnover markers have improved. I’ll have my next DXA this July, so we’ll know for sure how things are going then.
Does this bone disorder have a daily impact on you, like pain, physical limitations etc? Do you have to be careful with particular types of activities, movements and exercise?
This disease definitely has a daily impact on my life. I do have a lot of constant pain in my lower back and sometimes I have pain all over my body. I can’t be as active as I would like to be, and I’ve had to discontinue the sports I love the most. I have to avoid sports or activities where I bend my back a lot or sports that put strain on my bones.
What is the prognosis for you; does your doctor feel you’ll improve with treatment or that IJO will resolve at some point?
I think my doctor feels that I’m going to improve with treatment and age. He certainly is working super hard to help me improve. I’m hopeful that the things we’re doing will help me to overcome IJO, but I’m always a little bit uncertain. I hope that when I’m 25 I’ll be able to tell you that I’m IJO free.
What advice would you have for any young individuals who are facing a diagnosis of IJO to help them deal with it?
I know this sounds super clichÃ©d, but I would tell them to simply stay strong and remember that IJO is not the end of the world. Eventually, with hope, a lot of hard work on the part of many people, and time, the pain will pass and hopefully they will be cured. I would tell them to look at the other kids in the waiting rooms and be thankful that they have a long life ahead of them. Even if my life is filled with back pain and Reclast therapy, it doesn’t mean that I have to be held back by IJO. Kids who are diagnosed with IJO just need to remember that everything may be fine in the end.
Rachel, we want to thank you so much for doing this very important interview on idiopathic juvenile osteoporosis. Your words will surely help many patients and families who might be facing this devastating disease. We wish you all the luck and hope that you will recover; be able to return to do the things you love so much and have a wonderfully fulfilling life. Good luck to you and your family, who has supported you through this long journey and helped to make the path easier for you all. Please stay in touch with us so we’ll know how you are doing!
Thank you so much for including me in your interviews! I hope that I have been able to help you, and please just let me know if I can do anything to help. I will certainly keep in touch.
Thank you again!
Rachel, you’ve helped us all more than you’ll ever know; and we’ll look forward to hearing from you so you can tell us how you are doing with your treatment. You are a truly courageous young lady; so hang on to that, it will take you far in life.
Idiopathic Juvenile Osteoporosis, National Institute of Health (retrieved May 17, 2010)
Pam wrote for HealthCentral as a patient expert for Osteoporosis.