Shae Can Hear a Pin Drop!

A bit more has happened since the last post.

On April 28th, Shae was suffering from a cold. Julie brought her to our local clinic to get checked over. She had a sinus infection brought on by the combination of the cold and her PFD. She also had an eye infection probably caused the sinus infection. Afterwards, she also was complaining of tingling and numbness in her cheek. Julie ending up calling the HealthLinks hotline. They felt that Shae should be brought to the emergency right away as they were concerned that she might be at the onset of Bell's Palsy. The ER doctor looked her over and ended up feeling that it was a side effect of the sinus infection. They felt that taking the prescribed medication should eliminate the symptoms (which it did).

To complicate matters, our family doctor apparently decided to give up being a physician and become a counselor. That means that when we need a family doctor more than ever, we are now in a very convoluted process of trying to get a new doctor. One would think that it would be a simple process since we have been patients of the clinic for almost three years but OH NO. We have to complete a New Patient Application, and then meet with the doctor so they decide if they will ACCEPT us as patients. What a bullshit system.

Today, Shae went for her hearing test. She went through a fairly wide variety of tests - from having air shot in her ears, to having loud sounds pumper in her ears, to the old-fashioned "put on the headset and point to the ear when you hear a noise". She was a trooper through the whole process and passed all the tests with flying colors. The nurse told me that Shae can hear better than average. No problem hearing so no excuses for not hearing her parents. =)

Friday is the geneticist appointment, so we will put up another post after that.

Take care all,

Darcy 

Great News!

We have had a lot happen in the last couple of weeks.

I called the Endocrinologist and they said they had an appointment for Shae-Lyn for July 4th but they were going to try to get her in early and then on Thursday the 13th they called and said they had a cancellation for April 18th so we took it!  It moved everything up by about 2 1/2 months because we had to see the endocrinologist before we saw the geneticist.

We went on Monday, and the Endocronologist was great with Shae and talked with her and to her the whole time. After checking her over she really felt that there wasn't an endocrine issue with Shae-Lyn which means she only has the PFD and doesn't have the McCune Albright's Disease - It was a huge win today.  And then, they called the x-ray department to get the skeletal survey results because we hadn't been able to get them yet and the x-rays show no other spots on her body - so it looks like she only has PFD in her skull and nowhere else - another huge win.  The endocronologist sent us away with some urine and blood tests she wants done just to be extra sure but said we can do them whenever the next doctor requests tests to be done so she doesn't have to be poked twice.  She also said she would go down and tell the genetics department that she had seen her so they can book her appointment.

On wednesday the 20th, we got her Geneticist appointment for June 3rd.  She will have to have urine and blood tests done with them - so we will do them all then (Shae cried when we told her - felt really bed, no child should have to have that be a part of their life), but she will not be alone.  Apparently, Darcy and I both also have to have tests done so they can do a comparison.  We also have all of her other specialist appointments booked.  She has her hearing test May 31st, her neuro-opthamologist appointment on June 20th, and we see her ENT - the original specialist July 11th where we will have all tests and opinions of the specialists in place and can colaborate with the ENT to determine the best course of action for following Shae with this disease and take any actions that are necessary for her health.

We feel that the news we have received this week is as positive as we could get aside from her never having been diagnosed with PFD in the first place.

Thank you everyone for your messages, Shae-Lyn has read everyone and I know it means a lot to her.

Skeletal Survey is done!

On Wednesday, we got a call to bring Shae in for her Skeletal Survey the next day.  We went in and they were really good with her and the x-rays were done fast.  They said it would be 7-10 days before we find out the results, so we will call next week to see if they have any information.  Shae was a little scared today and very concerned to get the results but she was a trooper and calm the whole time.

Julie :)

Mapping Out the Next Steps

Shae went for her follow-up appointment today with the ENT (Ear, Nose, Throat) specialist, Dr. Leitao. He had a chance to met Shae and get to know her a little. We discussed her situation and what the next steps should be. One of the topics we discussed was when surgery should be considered. Dr. Leitao said that cosmetic surgery wouldn't normally be considered until Shae was at least 14-15 years old so that most adolescent changes would be complete. Here is a list of the next steps that the Dr. does want completed immediately:

1. Dr. Leitao has ordered a skeletal survey in order to determine if there are any other bones that have FD. The sketal survey will be done by doing an X-ray of every bone in her body.
2. He will also be referring Shae-Lyn to an pediatric endocrinologist. The endocrinologist will test Shae-Lyn for a variety of endocrine issues. The most important one for patients with craniofacial FD is to check for excess Growth Hormone. Excess Growth Hormone can make craniofacial FD worse.
3. The ENT is also going to be referring Shae-Lyn to a Geneticist. Since the disease itself is genetic, the geneticist will not only be able to confirm the diagnosis but also can check for other genetic issues.
4. The last referral for now will be to an Opthamologist. The opthamologist will be able to check the bone that forms part of the eye socket to assess its potential impact on the optic nerve.
5. The last and final test for now will be a hearing test just to ensure that the growth has not impacted any of her hearing yet.

The ENT has allowed 3 months for us to get through all of these referrals and tests. Shae is booked for a follow-up appointment with Dr. Leitao in 3 months time. At that point, we should have all of the diagnostic testing complete and have a full picture of what we are dealing with. Hopefully, we will get the testing and referrals completed quickly. Shae cried tonight.

We will provide more updates as we book and complete tests and meet with doctors.

Take Care,

Darcy

Article on Fibrous Dysplasia

Below, I have reproduced the best article we have found so far that explains some of the details of Fibrous Dysplasia. It was written by a mother of a child with FD. She often refers to McCune-Albright Syndrome which is a form of Fibrous Dysplasia with additional complications (since her son was diagnosed with MAS). Since Shae-Lyn does not have MAS, I have tried to highlight pieces in the article that have relevance to Shae's condition.

MAS Mother's Explanation

To help parents understand the VERY detailed and technical "stuff" about MAS - here is an article written by Catherine Calhoun in "mom" terms.
McCune-Albright Syndrome/Fibrous Dysplasia, As explained by a mom.
It’s been over 2 years now that I’ve known about my son’s MAS/FD.  I consider it something along the lines of a serious chronic illness with a side of disability.  I’m still scared, but I know that he probably won’t lose his vision and hearing.  I know also that his extensive bone disease will probably mean that he will always use a wheelchair, at the least for longer distances.  It’s important to keep in mind that MAS/FD is extremely variable with a wide spectrum of involvement (some children with MAS/FD go through life with very few medical issues while others have very serious medical complications).
We’ve worked hard to pull together a good medical team.  We have lots of wonderful doctors who work very hard for our son.  Sometimes it can be very challenging to coordinate care between specialists and to ensure that everyone communicates promptly.  We’ve learned quickly that we are the best advocate for our son’s medical care and usually fall into the role of medical team “leader” simply because no one doctor has the time or expertise to manage all of the details of our son’s care.
We’ve tried to build a new “normal” life for our family.  We acknowledge the challenges of MAS/FD but try not to let the work and worry consume us.  I’ve put together this “explanation” in the hopes that it will provide you some practical information to better empower you along your path.
What is MAS/FD?
McCune-Albright syndrome (MAS) is a rare genetic non-inherited syndrome characterized by (1) bone disease (fibrous dysplasia, FD), (2) endocrine and other issues, and (3) café-au-lait markings on the skin (described as “coast of Maine” in shape).
It is important to keep in mind with both endocrine and bone issues that you will typically know by age 5 if your child will have a significant endocrine issue and whether or not your child is likely to have disabling bone disease.
I know it can be overwhelming, but know that studies show that kids living with MAS/FD grow up to be happy adults with well-adjusted lives, medical issues notwithstanding.  These same studies show that parenting a child with MAS/FD is very challenging (it’s not just you or your imagination – being mom or dad to a kid with MAS/FD is very hard).
There is no cure for MAS/FD.
What is the prevalence?
Experts estimate the prevalence of MAS/FD is 1 in 100,000 to 1 in 1,000,000.
What causes MAS/FD?
MAS/FD is caused by a chance mutation in a gene, GNAS (it was not passed to your child by either parent).  GNAS codes for the protein Gs alpha.  There is no known cause for the mutation.
Experts believe that the extent of disease depends on when and where the mutation occurs at the embryonic stem cell level.  The effect of the mutation could be disease in one bone or many bones with or without endocrine involvement.

Gs alpha usually acts as an on/off switch.  In MAS/FD the Gs alpha is stuck in the “on” position.

What about my child’s children?
Your child will not pass MAS/FD to his or her child.  Doctors believe that children with MAS/FD will have normal potential for fertility, although some caution that it may be slightly more difficult for some women to get pregnant (an anecdotal observation).

What is fibrous dysplasia?
Fibrous dysplasia is a bone disease characterized by areas of abnormal cell growth.  The mutation in the GNAS gene causes abnormal cells in bone to multiply.  These cells don’t get the message to mature into normal bone-forming cells so rather than one normal bone cell there is a sea of abnormal cells or a soft-tissue mass.  This soft-tissue mass is called a “lesion.”  As the lesion expands and weakens the bone may fracture.

Bone disease in one bone is called “monostotic” while bone disease in multiple bones is called
“polyostotic.”  If surgery is needed for monostotic bone disease, it can usually be treated with standard orthopedic techniques (bone grafting).  Polyostotic bone disease is much more complicated (see below).

Endocrine issues can worsen bone and even cause bone pain.  Make sure your child is screened and treated for all endocrine issues (be sure to include calcium, phosphorus and vitamin D).

How do you test for fibrous dysplasia?
It is not always easy to know if someone has fibrous dysplasia.  Doctors typically use x-rays, bone scans, and CT scans (CT scan is best for craniofacial) to diagnose and image fibrous dysplasia.  MRI can be helpful for imaging a bone cyst, as well as, the optic nerve.  Both CT scan and MRI can be helpful in detecting subtle fractures.

The bone scan is very sensitive and will detect (after age 5) all areas of the skeleton that are likely to be generally affected by fibrous dysplasia.  X-rays are needed to determine the mechanical significance of each lesion.

Most misdiagnosis occurs with bone disease in the skull.

Sometimes a biopsy of the bone can be helpful in diagnosis.

Genetic testing is not particularly helpful in diagnosing fibrous dysplasia because the mosaic nature of the mutation means that the mutation will not show in every cell.

The most important consideration is the clinical context of the patient and supporting information (e.g., endocrine issues, if any, and the appearance of café-au-laits).

Where does fibrous dysplasia usually appear?
Experts have found that within the population with polyostotic fibrous dysplasia that 85% have fibrous dysplasia in the skull, 66% in the left pelvis, 60% in the left femur, 58% in the right pelvis and 52% in the right femur.
Fibrous dysplasia in the proximal femur and skull are usually the most problematic.

Fibrous dysplasia of the spine is common (63%).  It is something to monitor although few people will need surgery.  If surgery is needed, conventional techniques are usually successful and surgery does not need to be repeated.

How much fibrous dysplasia will my child have?
Craniofacial lesions are established earliest with 90% of lesions by 3.4 years of age.  With regard to the rest of the skeleton, a child has 50% of his or her bone lesions by age 5.7 years, 75% of bone lesions by age 10.7 years, and 90% by 15 years.

As a practical consideration, by 5.7 years old a child has 90% of his or her clinically significant fibrous dysplasia.  Thus, you will know by about age 6 or 7 if a child will need adaptive equipment such as a walker, crutches, or wheelchair on a long-term basis to get around the home or community.

Bisphosphonates do not prevent expansion of bone lesions but can be effective for pain relief.
Experts caution that if your child has extensive bone disease by an early age it is important to consider whether or not surgery is appropriate, i.e. if multiple surgeries will not make a difference in the long-run it might be best to avoid surgery.

What about fractures?
Fractures tend to occur more often in childhood (highest rate occurs between 6 to 10 years old) but do continue into adulthood at a lesser rate.  There is marked variability in fracture rate.  Also, there is some association between fracture rate and endocrine problems (e.g., low blood phosphorus).

In young children it is a good idea to watch for tiredness or limping as a sign that the child needs to be checked out for a fracture or other injury.

With my son it took some pretty good coaching with the Wong-Baker FACES Pain rating Scale before he became more adept at recognizing and reporting his pain to us (the pain scale is 1 to 10 with faces from smiling to sad/crying).

What about craniofacial fibrous dysplasia?
• Ears – The most common trouble is ear canal narrowing which can complicate cleaning wax from the ear.  Possible treatments for wax build-up include irrigation, wax removal products, and cleaning by an ENT (don’t use Q-tips).  It is also possible that fibrous dysplasia could cause a very mild degree of hearing loss.  If your child experiences a slight hearing loss consider preferential seating at school and hearing aids.  A larger hearing aid can be better for young children because it can be easier to handle and modify.
• Sinus – The most common trouble is nasal congestion with or without enlarged turbinate.  Sinus infections, if any, tend to age out as the fibrous dysplasia fills the sinus and leaves no room for infection.  Possible treatments include saline spray, nasal irrigation, nasal steroid therapy, antihistamines, and antibiotics.
• Eyes – Vision loss is rare.  Vision loss due to optic neuropathy (ON) has only been seen in MAS patients with 100% encasement of the optic nerve plus growth hormone excess (or bone cyst).  Doctors believe that the risk of ON lessens after puberty because the fibrous dysplasia becomes more static.  If ON happens, the goal is to maximize remaining vision in the affected eye and ensure continued vision in the other eye (typically only one eye would be affected).
• Medical Care – If craniofacial fibrous dysplasia is an issue for your child, consider a CT scan of the skull annually (or every 2 years if the skull appears stable), annual eye exams with a neuro-ophthalmologist (if possible), and ENT checkups annually or more often if your child has problematic ear canal narrowing and/or sinus trouble.  MRI will give the best resolution of the optic nerves, if that is an issue.
• Surgery – Surgery for craniofacial problems really should be avoided in the absence of visual or severe hearing impairment, or severe pain.  If conservative treatments don’t work you might consider surgery but keep in mind that the fibrous dysplasia is likely to return, multiple surgeries might be needed, a better outcome is more likely in an older child (i.e., 10 years old or older), and endocrine issues must be properly managed. 

Surgery should be done only with an experienced surgeon.
• Surgery for the Sake of Appearance – If your child is unhappy with the appearance of craniofacial fibrous dysplasia, you can consider plastic surgery.  However, the medical community is mixed on the best approach.  There are surgeons out there with a reputation for cutting for the sake of cutting.  I would consult with the doctors/nurses at the National Institutes of Health working on the MAS/FD study before pursuing any plans for plastic surgery for my son should that ever be an issue.
• Dental Issues – If your child takes bisphosphonates by IV infusion, it is a good idea to maintain a vigilant plan for dental care, especially when a tooth extraction or other dental surgery is planned.  My son takes bisphosphonates by IV so we take him to the dentist every 3 months for a cleaning and make sure his dentist knows to be extra mindful of trouble (very rare possibility for osteonecrosis of the jaw).
• Cancer – Very rare.
• Medical Team – A craniofacial team usually includes a geneticist, plastic surgeon, neurosurgeon, ENT, audiologist, etc.  Your child should see the team once a year or less frequently, as needed.  If your craniofacial team is far from home, consider finding local doctors to help manage your child’s care, including an experienced ENT (otolaryngologist), eye doctor and dentist.
• What We Do - We plan to do CT scans every 2 to 3 years with my son’s craniofacial team, more frequently if there is trouble.  He sees a local ENT several times during the year because he does have some ear canal narrowing and trouble with ear infections and sinus congestion/infections.  He sees a regular local eye doctor annually.  This doctor appreciates the seriousness of craniofacial fibrous dysplasia and is prepared to call in a neuro-ophthalmologist on a moment’s notice should my son have an issue with his vision related to his optic nerve.  If my son has any serious craniofacial problems, we expect to travel far from home for the best possible care (doctors with the most experience treating MAS/FD).
• Action Alert - Endocrine issues can worsen bone.  Make sure your child is screened and treated for all possible endocrine issues.  If your child has growth hormone (GH) excess be vigilant in monitoring and treating the GH excess because it can really complicate and worsen craniofacial fibrous dysplasia.  There is a noted slight possibility that growth hormone excess may contribute to malignant transformation/cancer in people with MAS/FD.

What about fibrous dysplasia in the body (bones below the neck)?
• Indications for Surgery – If your child has multiple fractures (more than 3 fractures per year), high risk for deformity, or persistent pain that does not respond to conservative management, your child may need surgery.
• Curettage and Bone Grafting – Surgeons should not use curettage and bone grafting in children with polyostotic fibrous dysplasia.  Digging diseased bone out tends to make it “mad” and it will return (and then some).  Grafts are typically consumed by diseased bone within weeks or months.  There could be a situation in which grafting is appropriate, perhaps to fill a void (i.e., cyst).  In this situation the only graft I’d consider would be cortical allograft.
• Plates and Screws – As a general rule, plates and screws will not have good holding power in fibrous dysplasia and will fail.  Sometimes they work, but intramedullary rods are usually the best internal fixation device for children with MAS/FD.
• Rods – Rods are the device most likely to restore normal anatomy and to decrease the likelihood of further fracture and progressive deformity, particularly as used in the upper femur.  Sometimes it can be challenging to find a rod suitable for a small child.  My son’s orthopedic surgeon used custom titanium rods for both of my son’s femurs.  These rods took about 6 weeks for manufacture.  Some surgeons adapt rods designed for other bones for use in a small child.  It isn’t a perfect solution but can add strength to the femoral shaft.  There is a new company, OrthoPediatrics, who may bring rods to market that would be suitable for small children with MAS/FD.
• Proximal Femur – The proximal femur is often one of the most involved areas and most challenging problem to manage in children with MAS/FD.  The saying goes “rod them early and often.”  It is much more difficult to reverse deformity than to avoid deformity.  The proximal femoral neck-shaft angle is normally between 135 and 150 degrees.  If the angle decreases to 110 degrees, experts believe intervention is needed.  Reconstructing deformities of 90 to 100 degrees is exceedingly difficult.  Casting of the lower extremities should be minimized.  Weight-bearing should begin as soon as possible after surgery.  Expect to repeat surgery as your child grows.
• Shaft and Distal Femur – Typically the shaft and distal femur don’t cause problems.  If there is problematic involvement, rodding is effective.
• Lower Extremities – Deformity in the tibia and fibula is uncommon.  If present, it can be treated with corrective osteotomy and rodding.
• Humerus, Radius, and Ulna – These areas are less problematic than the lower extremities.  Typically, standard techniques of splinting and casting are effective.  Rods may be needed in severe cases where deformity may occur.
• Hands and Fingers – Frequent fractures of the small bones of the hands and fingers are best managed with surgery.  This is the only situation where curettage and bone grafting is likely to be of benefit in MAS/FD.
• Bone Cysts – Bone is MAS/FD can develop aneurismal bone cysts (ABC’s), more often in the craniofacial bones.  Suspect a bone cyst if bone has increased pain over a short period (days or just a few weeks) or repeated fractures in the same location just days after apparent healing of the last fracture.  A fracture can occur through a cyst.  Bone cyst may be diagnosed using an MRI.  Surgical removal of the tumor with curettage and the use of adjuvants (i.e., liquid nitrogen, phenol) are generally effective.
• Medical Team – Pediatric orthopedic surgeon with experience treating fibrous dysplasia.  It can also be helpful to consult with a rehabilitation doctor (physiatrist).  It can be a helpful to have your child evaluated by a physical therapist periodically just for another set of eyes on issues like range of motion and quality of gait.  If your child has a significant leg length discrepancy it is a good idea to work with a certified pedorthist to ensure a well-designed shoe for your child.
• What We Do – At the beginning, we did one complete skeletal survey (x-rays of everything).  Now we only x-ray an area if my son complains of pain in that area.  Also, we x-ray his femurs to check on the rods every few months (4 to 6 months).  We were told at the beginning that our son might need orthopedic surgery as often as every 9 months.  Fortunately, it has been almost 2 years since the first set of rods.  We expect that as he grows he will need his rods replaced every 2 to 3 years.  We also know that it is possible that at some point his surgeon may recommend that we do nothing, that surgery is no longer an option for our son.  Additionally, it is possible that at some point when he is older our son may opt out of orthopedic surgery and make do with whatever his abilities are at that time.  We find swimming is the absolute best exercise for our son.  We believe that fighting for the best possible medical equipment (i.e., wheelchair, walker, crutches, etc.) is worth the fight because it will improve your daily quality of life.

What endocrine issues can arise?
There are several endocrinopathies related to MAS including, precocious puberty, hyperthyroidism, growth hormone excess, cortisol excess, and hypophosphatemic rickets.
It is very important to find an endocrinologist experienced with MAS or who at the least is willing to consult with an experienced endocrinologist in the care of your child.  You can expect to visit your child’s endocrinologist every 6 to 12 months.

Bone age x-rays, thyroid, pelvic and testicular ultrasounds are common, as well as, comprehensive blood tests at least once per year.

Gonads
• Girls – Precocious puberty is more common in girls (≥ 50%).  The average age of diagnosis is 2.8 years old (it is often the presenting feature of MAS in a girl).  It is caused by high levels of serum estradiol due to intermittent autonomous activation of ovarian tissue.  Some girls have bleeding, accelerated growth, progression of pubertal development (e.g., mild acute breast development), and advanced bone development.  It is a form of peripheral precocious puberty.  Sometimes it will progress to secondary central precocious puberty (make sure your daughter is evaluated for secondary central precocious puberty as well).
•  Medical Care for Girls - Your daughter’s doctor will probably do a pelvic ultrasound to check for ovarian cysts, uterus size, and endometrial stripe, as well as, a bone age x-ray.  As far as medicines go, aromatase inhibitors have been around the longest.  Letrozole, a third generation aromatase inhibitor, is effective in some girls.  The estrogen antagonist/agonist, tamoxifen, has also shown promise.  The treatment for secondary central precocious puberty is long-acting gonadotropin releasing hormone analogues.  The goal for treatment is to stop bleeding, stop pubertal development and slow bone growth.
• Looking to the Future – No medicine has been found to be perfect.  To really know what works best for girls with MAS with precocious puberty, controlled and head-to-head comparison trials are needed.  Some girls may experience irregular periods, ovarian cysts, and higher estrogen levels over longer periods of time when they are grown women.
• Boys – Precocious puberty is less common in boys (≤ 15%).  The average age of diagnosis is 6.9 years old.  The testes can be turned “on” causing the production of testosterone with enlargement of the penis, pubic and underarm hair, body odor, acne, and rapid growth.  Boys do often have small testicular masses of Leydig and/or Sertoli cell hyperplasia.  Microlithiasis is commonly seen.  These cell masses can be followed with periodic ultrasounds.  Surgery is not needed for these masses.  The risk of testicular cancer is very rare.
• Treatment for Boys – Your son’s doctor might order a testicular ultrasound.  Boys are typically treated for precocious puberty with an aromatase inhibitor and anti-androgen (Spironolactone or Flutamide).
• Medical Team – Pediatric endocrinologist or regular endocrinologist.  For my son we travel to see a pediatric endocrinologist experienced with MAS/FD once per year and use a regular local endocrinologist throughout the year.
• What We Do – We check my son’s hormone levels annually as part of comprehensive labs done with his pediatric endocrinologist.
Thyroid
• Hyperthyroidism (“frank hyperthyroidism”) – An overactive thyroid is common (38%).  Signs and symptoms can include sweating/heat intolerance, frequent bowel movements, anxiety, etc.
• Other Thyroid Involvement – Subtle thyroid involvement is very common (63%).  This includes suppressed thyroid stimulating hormone (TSH) with elevated Triiodothyronine (T3+) and an abnormal thyroid on ultrasound (the tissue can look strange with nodules).
• Medical Care - You should monitor your child’s thyroid function with labs and ultrasound annually.  Check TSH, FT4, T3, and T4.  Hyperthyroidism is treated with antithyroidal medications (e.g., Tapazole and PTU).  It is a good idea and pretty easy to ultrasound the thyroid annually.  You may consider surgery at some point for definitive treatment.
• Thyroid Cancer - Very rare.
• Medical Team – Pediatric endocrinologist or regular endocrinologist.  For my son we travel to see a pediatric endocrinologist experienced with MAS/FD once per year and use a regular local endocrinologist throughout the year.  If you are considering surgery you should find an experienced surgical team.
• What We Do – My son has hyperthyroidism.  We’ve treated him with Tapazole for 2 years and will have the thyroid removed soon.  We find it hard to manage his thyroid.  When it ends up over-suppressed (hypothyroid), it causes weight gain and fatigue.  When it is under-suppressed and overactive, he is anxious and has trouble sleeping.  We will probably check his thyroid levels every 3 to 6 months even after his surgery to make sure that his thyroid replacement medicine is doing its job.
Renal Phosphate Wasting
• Phosphate Wasting – Renal involvement is common (50%).  Phosphate wasting resulting in hypophosphatemia is less common (18%).  It can be part of proximal tubulopathy (with or without hypophosphatemia) or part of rickets/osteomalacia.
• Medical Care – Measurement of serum phosphate and calculation of renal phosphate handling by either the tubular reabsorption of phosphate (TRP) or maximal tubular reabsortion of phosphate per glomerular filtration rate are recommended.  Dr. Michael T. Collins of NIH strongly believes that frank hypophosphatemia should be treated with high dose of oral phosphate with high dose of calcitriol.
• Medical Team – Pediatric endocrinologist or regular endocrinologist.  For my son we travel to see a pediatric endocrinologist experienced with MAS/FD once per year and use a regular local endocrinologist throughout the year.
• What We Do – We check my son’s levels annually as part of comprehensive labs done with his pediatric endocrinologist.

Pituitary
• GH Excess – GH excess is seen in approximately 20% of patients with MAS.  The signs and symptoms can be very subtle.  You must make your sure your child has an oral glucose tolerance test (OGTT) to look for non-suppressible GH, at least once.  Non-suppressible GH with elevated IGF-1 should be treated.  It is less clear what to do with non-suppressible GH and normal IGF-1.
• Prolactin – Prolactin levels must be checked because hyperprolactinemia can have an adverse affect on gonadal function (e.g., sexual function/impotence).
• Medical Care – Long-acting somatostatin analogues and GH receptor antagonist, pegvisomant.  For children, it is probably best to go with the somatostatin analogues.  The goal is to reduce the calculated serum IGF-1 Z-score to 0.  Surgery is difficult because craniofacial fibrous dysplasia thickens the skull bones making surgery complicated and will probably require a total hypophysectomy which would make the child panhypopituitary.  Dopamine agonists (cabergoline, etc.) are used to normalize the serum prolactin.
• Medical Team – Pediatric endocrinologist or regular endocrinologist.  For my son we travel to see a pediatric endocrinologist experienced with MAS/FD once per year and use a regular local endocrinologist throughout the year.
What We Do – We’ve done an OGTT for my son with normal results.  However, his pediatric endocrinologist keeps an eye on GH and prolactin still with his annual comprehensive labs.
• Action Alert – GH excess is very serious because it can worsen craniofacial bone disease.  There is a noted possibility that growth hormone excess may contribute to malignant transformation/cancer in people with MAS/FD.
Parathyroid
• Secondary Hyperparathyroidism – Not part of MAS/FD but something to monitor because it can worsen fibrous dysplasia and needs to be treated.  It can occur with vitamin D deficiency.
• Medical Care – Assess total or ionized serum calcium (iCa) and parathyroid hormone (PTH) periodically.
• Medical Team – Endocrinologist.
Adrenal
• Cushing Syndrome – Can occur in the neonatal period.  Hasn’t been reported past the first year.  Screen for this with some combination of 24-hour urine for urinary free cortisol, midnight, or salivary cortisol, and/or dexamethasone suppression test.
• Medical Care – Adrenalectomy is probably the best treatment.  If the child is too ill for surgery, metryrapone is recommended.
• Medical Team – Endocrinologist.
• Action Alert – Check adrenal reserve in children in whom Cushing resolved spontaneously.  Cushing syndrome in MAS usually comes with hyperthyroidism which, if not treated, can complicate and worsen the child’s condition.
What about pain management?
Some kids have more pain than others.  There are many options for pain management including, cold packs, heating pads, warm bath, Tylenol, Motrin, and Aleve.  If these don’t work for your child, you might try bisphosphonates and/or narcotics.  I’ve heard some doctors recommend SSRIs (I personally have no plans to try SSRIs for my son, but perhaps when he is grown he might consider trying something like that).
IV infusions of bisphosphonates can be very effective in relieving pain related to fibrous dysplasia (not as effective for craniofacial bones as for other bones).  Experts recommend going with the lowest dose with the longest interval between doses.  It can be challenging to find a doctor comfortable overseeing infusions like these in a small child.  We use my son’s local endocrinologist who follows the dosage recommendations of the doctors at the National Institutes of Health who work with the MAS/FD study.  Sometimes infusions can be coordinated with an orthopedist or nephrologist.

I can see the bone pain coming back in my son after a few months of an infusion.  The pain actually makes him look sick.  He usually gets great relief from an infusion of pamidronate (Aredia) within 2 weeks time.  We use narcotics for him only when he is recovering from surgery or an injury and experiencing acute pain.
What other medical issues can arise?
Additional medical complications that have been observed in children with MAS/FD include, reflux, polyps (GI), pancreatitis, cardiac issues, neurological issues, cancer, and allergies (histamine excess).

There is not a great deal of information on these possibilities.  My son complained of intermittent stomach pain for months and after vomiting a small amount of blood while sleeping we took him to a pediatric gastroenterologist who placed him on Prevacid.  We plan to scope his GI system eventually just to get a baseline and determine the seriousness of this issue.  He feels great now on the Prevacid.  My son also has a histamine excess which we believe relates to the stomach trouble.  He has extreme skin sensitivity.  Whether or not these issues are firmly related to his MAS/FD, we don’t know.

I’m sure some parents wonder whether or not MAS/FD will impact their child’s cognitive abilities.  I know that there are some children with severe MAS/FD who experience developmental delays.  I’d guess there is spectrum of ability within the MAS/FD population just as there is in the “normal” population.  As I appreciate the possibilities, kids with MAS/FD can grow up to be amazing and strong no matter what – some are artists (Mauricio Saravia), some are scholars (Tiffany Cavoretto and Michael Craig), and some are athletes (Lucy Gilmore and Lindsey Carmichael).
What about the future?
Fibrous dysplasia researchers, doctors and advocates met during the “1st Advances in Rare Bone Diseases” scientific conference in October 2008.  Plans for the future include (1) developing and implementing a registry for fibrous dysplasia to track medical issues and treatments, (2) assessing long-term effects of bisphosphonates in the fibrous dysplasia population, (3) establishing “standards of care” for treatment of fibrous dysplasia, and (4) educating the medical community about fibrous dysplasia.  See BoneKEy and the Rare Bone Disease Patient Network for more information.
Acknowledgements
I hope this “explanation”, long and technical though it is, has been helpful and not too scary.  I’m hopeful for all parents and kids and wish for you the same fighting spirit that I fall back on everyday as I do my very best for my son, my family, and me.
Everything I know was “borrowed” or learned from Dr. Michael Collins, Marilyn Kelly, RN, Dr. Lynn Lindaman, Dr. Robert Stanton, Dr. Craig Dufresne, Dr. Jeffrey Kim, Dr. Edmond FitzGibbon, Dr. Scott Paul, Dr. Erica Eugster, and Dr. Jill Jacobson.  See “McCune-Albright syndrome” by Claudia E. Dumitrescu and Michael T. Collins, Orphanet Journal of Rare Diseases (2008) and “Surgical Management of Fibrous Dysplasia in McCune-Albright Syndrome” by Robert P. Stanton and Leigh Diamond, Pediatric Endocrinology Reviews (2007).

The Start of the Road

This is the start of Shae's journey as she learns what her new reality will be like as she learns to live with Polyostotic Fibrous Dysplasia. The intent of this blog is so we can document the process as well as allow family and friends to keep up-to-date on her progress without having to make 20-30 phone calls on a regular basis.

About 4 weeks ago, Julie took all three children to the dentist for their regular check-up. The dentist called Julie into the examining room where Shae-Lyn was seated. He explained that he found something unusual in her cheek and asked to perform an x-ray. The x-ray revealed that Shae had a fairly large tumor-like mass in her left sinus area. The next 3 weeks were a barrage of doctors appointments, testing, phone calls and worrying. This past Monday, March 14th, we met with Dr. Leitao, the Ear,Nose, Throat specialist at the Children's Hospital in Winnipeg and got a confirmed diagnosis. Shae-Lyn has a very rare bone disease called Polyostotic Fibrous Dysplasia. It's a genetic disorder that affects less than 1:100,000 kids. Some researchers believe the incidence rate is between 1:100,000 to 1:1,000,000. Essentially what happens is the bone cells mutate and start forming a fibrous tumor-like mass on the affected bone. Currently, she has it in 3 bones in her face - the lower jaw, the main cheekbone, and the bone that forms part of her eye socket. The doctor showed the CT scan to Julie and I so we may understand what we were facing. There was a very significant difference in bone size and composition between the two sides of her face. Technically, Shae is currently diagnosed with Craniofacial PFD as it has been confirmed only in her skull. PFD has no cure and currently the only two types of treatment are surgical (to shave the bone masses to return them to their original shape) and a hormonal drug treatment that reduces the speed of the bone growth. The primary concern with PFD in the face and skull is that the masses can press on the optic nerve (causing loss of sight), on the ear canals (causing loss of hearing), and pinching nerves (causing pain). Surgery is usually required to treat any of those complications. Currently, the bone that is of most concern with Shae-Lyn is the one that forms part of the eye socket because of its proximity to her optic nerve. Over the next few weeks, Shae will undergo additional testing to determine if she has the disease in any other bones in her body, and to check for other common complications and accompanying disorders (usually endocrine issues are associated with the disease).

We have begun the process of building a medical team to help Shae - members of the team will include the ENT, a pediactric endocrinologist, a geneticist, her dentist, her eye doctor and possibly a neuro-ophthalmologist, and if necessary, a neurosurgeon and plastic surgeon.

The Next Step -  Shae's next appointment is on March 28th with the ENT. He is expected to provide us with the full details of his treatment plan and our options. We will also be requesting the full body CT Scan or X-ray in order to rule out the presence of PFD in the rest of her body.


Take care,


Darcy