Fibrous Dysplasia a look at this rare bone disease

My daughter was diagnosed with Fibrous Dysplasia about 3 yrs ago.  Not knowing anything about this disease I have done a lot of research and would just like to share a little bit about what it is and our experience with this rare disease. 

 Fibrous Dyspasia is a disease that causes bone thinning and growths or lesions in one or more bones, and leads to bone weakness and scar formation within the bones.

These lesions are tumor-like growths that consist of replacement of the medullary bone with fibrous tissue, causing the expansion and weakening of the areas of bone involved. Especially when involving the skull or facial bones, the lesions can cause externally visible deformities. The skull is often, but not necessarily, affected, and any other bone(s) can be involved.

• Many patients have lesions localized in only one bone (monostotic fibrous dysplasia), affecting 70-80%.
• Others have them in many bones (poloyostotic fibrous dysplasia)

In 3% of cases, people suffering from fibrous dysplasia also have endocrine diseases and skin pigmentation; the three together constitute McCune-Albright syndrome. These endocrine diseases include precocious (early) puberty, often occurring as early as 6 years old.

Fibrous dysplasia is very rare; not much is known about it, and there is no known cure

Tests to diagnose this disease are x-rays,  bone scans and bone biopsies.

The only treatments right now are to control the effects of this disease.  There is medicine and there is surgery.

Bisphosphonates
Medications called bisphosphonates, including pamidronate (Aredia) and alendronate (Fosamax), are used to inhibit bone breakdown, preserve bone mass and even increase bone density in your spine and hip, reducing the risk of fractures. Doctors use these medications primarily for adults to treat osteoporosis and increase bone density, but bisphosphonates may also reduce bone pain associated with fibrous dysplasia and, in some cases, improve bone formation.

Little is known about the use of bisphosphonates for children and adolescents, but some studies indicate they may help relieve pain in children and adolescents with severe fibrous dysplasia.

Surgery
Your doctor may recommend surgery in order to:

• Correct a deformity
• Fix a fracture
• Remove an affected area of bone (lesion) that’s causing you difficulty
• Relieve pressure on a nerve, particularly if the lesion is in your skull or face.

Our experience with this disease could be different from others.  I’ve learned when doing research to remember that not all cases are the same.

My daughter was diagnosed by her ear/nose/throat doctor.  She was constantly getting sinus infections and seemed like she always had a cold.  He did an x-ray on her sinuses.  This also showed her whole skull.  It showed up a huge amt of bone.  When he called me he was even in shock.  He had never seen this kind of thing before.  We were referred to a specialist at Children’s Hospital.  She was officially diagnosed with fibrous dysplasia in her skull and facial bones.

Surgery is what they did to hopefully rid her of getting the sinus infections.  The first surgery was horrible.  The dr inserted tubes in her nose to help drain and to open the space.  They also had shaved some of the bone down.  This surgery didn’t seem to do much except cause her a lot of pain and anxiety. 

We have been seeing another specialist at Children’s now and he is wonderful.  She has had 5 other surgeries to open up the sinuses.  However, they were not as bad as the first.  The follow up surgeries were mainly to get rid of the scar tissue from the first surgery. 

She is now 6 and has not been having a problem.  apparently this disease gets worse during growth spurts and puberty.  So, crossing our fingers it stays at bay and does not get worse. 

Another thing I’ve noticed is that if she hits her head on something it does not sound normal at all.  It is so loud!  I’ve panicked many times thinking she really hurt herself when all she did was barely hit her head.