My Daughter has Fibrous Dysplasia

My precious little girl, my first born, my sweet little six year old has fibrous dysplasia. At this point we don't yet know if she has polyostotic fibrous dysplasia or monostotic. What we have learned is that this particular bone disorder is uncommon, which means there is very little information out there. It took a lot of education on my part to learn what questions to ask and what doctors to see so that I could properly get my daughter diagnosed and get her the treatment that she needs. That is why I decided to write this page. To help other parents that are dealing with the same challenges, fears, and frustrations that we are.

Image: The Fibrous Dysplasia awareness ribbon as presented by the Fibrous Dysplasia Foundation. The design was inspired by a 20 year old FD patient named Lauren Foster.

How we found out something was wrong with my daughter's bone

It was a beautifully sunny perfect spring Sunday. My youngest was napping, my middle child was enjoying some guy time with my husband, and my oldest daughter was riding her scooter in the driveway while I cleaned up in the kitchen after lunch. I heard what I first thought was a cat crying, then I realized that awful sound was coming from my daughter. She had never made that sound before with any of her past boo-boos, so I came running. I found her face down on the cement with her scooter. It looked like she hadn't moved an inch from the position that she first fell in. I scooped her up and carried her inside. I sat her in my lap on the couch while I examined her and tried to figure out what was hurt. She had no scrapes or bruises. She only complained of her arm hurting. There was no swelling or discoloration at all, but something about the way she was acting made me think her arm was broken because I'd never seen her behave so meekly before. I called my mom for advice because I had broken both of my arms as a small child. I remembered that my right break was a bad one, bent the wrong way and turned black almost immediately. But I thought I recalled my left arm break being mild. My mom said it didn't swell or bruise. She said I whimpered like an injured animal and I wouldn't use my arm. I explained that was the way my six year old was acting, but I wasn't sure if I should take her to the ER or not. I know our ER gets crowded and the wait can be five hours or more. I didn't want to subject her to that if it wasn't broken. My mom's advice was to see if I could get her to use the arm. So, I tried to get my daughter to do her favorite thing in the whole world...play a board game with me. Nope...nadda. She just wanted to watch TV instead.

I had to wait for my husband and son to return home so that he could stay home with our three year old before I could take our oldest to the hospital. My husband felt I was overacting. Our daughter's arm wasn't discolored or swollen. She wasn't crying or complaining about being in pain. She simply didn't want to use her right arm at all. My husband wanted to let her get some rest that night and see how she was in the morning. I thought that sounded fine since she wasn't complaining and she was tired.

The next morning she was the same. I called a friend of mine whose husband is an ER doctor and she advised going to direct care instead of the ER because it was full of people with a really bad stomach virus. I didn't want to expose our family to the stomach bug, and I figured since her arm wasn't swollen or discolored that this was either a mild break or a sprain. So, we went to the direct care clinic.

Kids break arms all the time. So, I wasn't upset or worried at this point. My daughter was handling it all well. She didn't even want to take any ibuprofen. They x-rayed her arm and then we waited in an exam room. The doctor came in and was acting a little strange. She told me my daughter's arm was broken but that wasn't the problem. Now I was getting concerned. Then she explained the radiologist found something on her x-ray that appeared to be an old break that didn't heal right.

"Wait...whoa...hold it right there," I remember thinking to myself. I used to work for CPS, so I know better than anyone that you never want to hear this as a parent. The next step is a full bone scan to see how many old breaks your child has and then the assumption is you broke their bones and hid the abuse by not taking them to the doctor. This thought was particularly troubling now that I knew her arm was in fact broken the day before and I had chosen to wait until the next morning to get it seen to.

I protested. I showed my honest shock and insisted that explanation was simply impossible. The doctor then said she'd fax the x-ray over to a specialist to get his opinion on what the bone abnormality was. The doctor left us waiting in the exam room for an hour. I was so worried. I was concerned for my daughter's health. I was also worried that CPS would be getting involved and I'd have legal troubles in addition to my daughter's medical issue.

The doctor returned with a different diagnosis. She said that the radiologist specialist thought it looked like an Eosinophilic Granuloma. I had no idea what that meant, and quite honestly neither did the doctor. She actually looked it up on Wikipedia! They put a splint on my daughter's arm and told us to follow up with an orthopedic doctor in three days for a cast.

At this point no one seemed to think what ever was going on with her arm was a big deal.

The orthopaedic doctor would not treat her

We went home and I called the orthopedic specialist that we were referred to and was shocked to be told by the nurse that the doctor wouldn't see my child. I was extremely upset. I explained that she had a broken arm and needed a cast and that she also had two bone lesions that needed to be properly diagnosed and treated. The nurse said that the orthopedic that we had been referred to didn't treat children under the age of eight and that she didn't know what the bone abnormality was that she was seeing on my daughter's x-ray!

Now I was beginning to get really alarmed. The specialist didn't know what was wrong with my daughter's bone. Plus, no one in our small city would be a cast on her broken arm because they didn't know what these bone lesions were.

I pleaded with the nurse for some sort of help. She spoke with the orthopedic doctor again who decided to refer us to a Pediatric Oncologist at Children's Hospital in Dallas. "Oncologist?" I shouted both in disbelief and to clarify that I hadn't misunderstood her. "Yes," was her simple and quiet reply. Then she explained that they don't treat bone tumors at this orthopedic clinic. I took down the number to the Children's Hospital Oncology department and thanked her before quickly hanging up and calling the number.

Oncology gave us an appointment for the very next morning. When I got off the phone with them, I finally gave myself permission to break down. With my two oldest kids in school and my youngest napping, I allowed myself to release all of the emotions that I've been feeling since the doctor first told me something was wrong with my daughter's x-ray. I was shocked and almost afraid of the primal sobs I heard leaving my body. I began praying immediately for the health and well being of my precious little girl.

Our visit to the pediatric oncologist

Having to leave our comfortable little community and drive just over two hours one way into Dallas to see a specialist was intimidating enough, but knowing that we were going there to see an Oncologist for our six year old was almost more than I could emotionally bare. If we didn't have our three year old and five year old with us, I probably would have lost it. But kids will be kids and the three of them joked, cut up, and bickered the entire trip just like always. The touch of normalcy was nice.

Up until this point I had been honest with my daughter, but only giving her the information that I felt was age appropriate for her. After all, we really did not know much of anything at this point. So, she knew she had a broken arm and that there was something wrong with her bone that only a special doctor could fix.

When we checked in at the Oncologist, the kids were excited to see a waiting room filled with toys. They even had several volunteers that had art supplies and sat down with the kids to do crafts. All three of my kids had fun while we waited to see the doctor. When they called my daughter back, I went with her to the exam room while my husband kept the other two entertained in the waiting room. Everything was going pretty smoothly until we were in the exam room. That's when my daughter noticed patients without hair in the halls, some where wearing slippers and pushing their IV trees along. My daughter is no stranger to cancer. Her Mimi battled lung cancer. We watched her lose her hair with chemo. We saw her triumph over cancer, only to have it return three years later in her brain. She is currently fighting her second bout of cancer while my daughter is going through her own medical challenges. She immediately put two and two together and realized we were at a cancer doctor and that what's wrong with her arm bone may be cancer.

I'll never forget how her eyes widened in horror as the realization came to her. She almost took on the mannerisms of a trapped wild animal in a full stage of panic. Then she jumped up and started shouting, "I want to go home now! I just want to go home!" She chanted it over and over. All I knew to do was grab her and hold her close. "We don't know what's wrong yet, Sweetie," was my honest reply. "We can't just go home without making sure we get you better." She continued chanting as she rocked back and forth in my arms. I ran out in the hall and found one of the volunteers and told them my daughter is very anxious. She asked me what my little girl is in to and I told her art. She left and quickly returned with a plethora of art supplies. My daughter's stress and fear all melted away as she happily painted.

The doctor finally came in after we waited in the exam room for an hour and a half. He explained that based off of reading my daughter's medical report that he felt it was likely that she had a benign condition. He sent her for an x-ray, viewed it, then said he did not know what it was. He explained that if she did have Eosinophilic Granuloma that we would come to him for chemo, even though it is a benign condition. He said, however, he isn't sure that's what she has. He explained that we would need a specialized Orthopedic Surgeon to diagnose her bone tumors and then we will know where to go from there. He referred us to an Orthopedic Surgeon in Dallas that takes all of the unusual and tough cases.

This woman works at a children's hospital and she discusses a 13 year old patient that has Fibrous Dysplasia of the right forearm, which is where my daughter's lesions are located. She explains that very little research has been done on FD found in the upper extremities.

We finally get a diagnosis

The Oncologist at Children's Hospital had hand picked the Orthopedic Surgeon for us. He told me that they had worked together for numerous years on difficult cases. He told me that this Ortho was very experienced, intelligent, and capable. I was relieved when I met him to learn that he was also incredibly nice and very empathetic with my little girl who at this point was terrified of doctors.

He reviewed my daughter's x-rays and told me to take a deep breath and relax. He said her bone tumors were benign. I started to ask a bunch of questions. He could see how anxious I was, and again he said, "Deep breath. Benign." He explained that the first step was to get her fracture healed. He said any tests, be it MRI or biopsy, would be inconclusive until the fracture healed. I learned that children's bones are very different than adult bones, that is why it's so important to see a Pediatric Ortho. Her little arm bone was working hard to heal and so was in a constant state of change. So, they put a cast on her arm and told us to return in three weeks for a follow up x-ray. I left feeling calm and hopeful.

My daughter was much more comfortable in a cast. It provided her arm with support and kept it from hurting. All was well for a week and a half, then her cast became loose. I noticed she was closing her fist around the part that went across her hand, because she felt like her cast was going to fall off. I asked her to let it go and let her arm relax by her side. Then I saw her cast slide down about a quarter of an inch. I called her Ortho and he said to come in right away for a new cast. Once we got to the doctor's office and he examined her arm, he said he thought that another cast would simply become loose and slide off again. He wanted to put her back in a splint to allow for swelling and contraction. I was very uncomfortable with the idea of another splint that had an ace bandage that could be wrapped and upwrapped. So, he told me we could try a new cast. Two days later we were already back at his office with a loose cast. They fitted her with a plaster splint that they carefully molded to her tiny arm.

One FD patient shares her story in an attempt to raise awareness of this unusual bone disease.

This has been a long road for us, and since this is a progressive and chronic condition, our journey is far from over. I've learned a lot along the way. I hope my insights help other parents and patients who are going through this.

1. Be an active participant in your child's diagnosis and treatment. If I had not been active and insistent, we may still be waiting for a definitive diagnosis. My daughter's arm may not have even healed correctly from the fracture. You don't want to burn your bridges, so always be polite when dealing with the doctors and their staff. But, never be afraid to ask lots of questions and to respectfully, yet aggressively, get the ball rolling when it comes to getting to the right doctors, x-rays, and other tests. This is a benign condition and it's not the doctor's child that has it, so that may make your child's FD not a very high priority as far as the Orthopedic Surgeon is concerned. Be sure you impress upon him that this is your child and you want answers fast.
2. While as parents we do want prompt care for our kids, you also must remind yourself to take this one day at a time. Fibrous Dysplasia is progressive, but in most cases it is not fast growing and it is benign. So, once you have an FD diagnosis, everything must not be done and decided by tomorrow. Deep breath...one day at a time.
3. Find out if it is monostotic fibrous dysplasia or pollystotic fibrous dysplasia. They are every different and must be treated as such. The first one is only in one bone. The second could be throughout most of the skeleton.
4. It's important to keep a positive attitude throughout all of this. Your child is watching you and learning how to cope with it through your example. This disease is not curable, so don't act like it's doomsday. Your child must learn how to cope with this disease for the rest of their life.

The following sites are a wealth of information when it comes to this uncommon bone disorder. They include information about the different types of FD, as well as its causes, symptoms, and treatments.