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Thread: Treatment: PT using MedX per Mooney & later, McIntire research

  1. #316
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    combination of HPP & AIS

    The endo is sending us to CHLA because of a rare disorder called Hypophosphatasia (HPP) that affects bones among others things. Does anyone one know anything about the impact of HPP on AIS?

    Summary (from National Organization for Rare Disorders)
    Hypophosphatasia (HPP) is a rare genetic disorder characterized by the abnormal development of bones and teeth. These abnormalities occur due to defective mineralization, the process by which bones and teeth take up minerals such as calcium and phosphorus. These minerals are required for proper hardness and strength. Defective mineralization results in bones that are soft and prone to fracture and deformity. Defective mineralization of teeth can lead to premature tooth loss. The specific symptoms can vary greatly from one person to another, sometimes even among members of the same family. There are five major clinical forms of HPP that range from an extremely severe form that can cause stillbirth to a form associated with only premature loss of baby (deciduous) teeth, but no bone abnormalities. Hypophosphatasia is caused by mutations in the tissue nonspecific alkaline phosphatase (ALPL) gene. This gene is also known as the TNSALP gene. Such mutations lead to low levels of the tissue nonspecific alkaline phosphatase enzyme. Depending on the specific form, hypophosphatasia can be inherited in an autosomal recessive or autosomal dominant manner.

    A Mom
    Last edited by AMom; 06-07-2016 at 03:27 PM. Reason: added info

  2. #317
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    Quote Originally Posted by AMom View Post
    The endo is sending us to CHLA because of a rare disorder called Hypophosphatasia (HPP) that affects bones among others things. Does anyone one know anything about the impact of HPP on AIS?

    A Mom
    I am reposting this to keep it in sight in case anyone can share info on the topic.

  3. #318
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    The endo is sending us to CHLA because of a rare disorder called Hypophosphatasia (HPP) that affects bones among others things. Does anyone one know anything about the impact of HPP on AIS?

    Second and final repost to keep this in sight in case anyone can share info on the topic.

    --After more reading, daughter's HPP must be mild, however I remain concerned about its long-term impact on her spine.

    Both daughters were accepted into a summer honors geology class so the ortho appointment with Newton was moved from June to August.

    The CHLA appointment info was lost in channels so I will be scheduling it myself on Monday.

    A Mom

  4. #319
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    It doesn't appear our community has experience with the combination of AIS and HPP so I will share a few pieces I found about mild HPP.

    Conclusion
    HPP can manifest with a broad range of symptoms and severity. During infancy and childhood, the diagnosis can readily be made based on clinical, radiographic and basic laboratory findings. Dr. Wermers summarizes: "Adults often present with more nonspecific symptoms, and a low alkaline phosphatase should prompt consideration of HPP. Recognition of adult HPP is important, as the most commonly utilized medications for osteoporosis (anti-remodeling agents) could further impair skeletal mineralization and should be avoided." http://www.mayoclinic.org/medical-professionals/clinical-updates/endocrinology/hypophosphatasia

    Signs & Symptoms
    Adult hypophosphatasia is characterized by a wide variety of symptoms. Affected individuals have osteomalacia, a softening of the bones in adults. Some individuals have a history of rickets during childhood, or have experienced premature loss of their baby teeth. Individuals with adult hypophosphatasia can experience fractures, especially stress fractures in the feet or pseudofractures of the thigh. Repeated fractures can result in chronic pain and debility. Fractures of the spine seem less common, but also occur. Bone pain is a common complication. Some affected adults develop joint inflammation and pain near or around certain joints due to the accumulation of calcium crystals (calcific periarthritis) or a condition called chondrocalcinosis, characterized by the accumulation of calcium crystals within the cartilage of joints, sometimes damaging the joint. Others have sudden, severe pain in the joint (pseudogout). Affected adults may experience loss of adult teeth.
    https://rarediseases.org/rare-diseases/hypophosphatasia/

    A Mom

  5. #320
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    This is the only study I found that combines the two disorders.Spine (Phila Pa 1976). 2005 Aug 15;30(16):E471-6.

    Scoliosis in association with infantile hypophosphatasia: a case study in two siblings.

    Arun R1, Khazim R, Webb JK, Burn J.

    Abstract

    STUDY DESIGN:
    A case study of scoliosis in two siblings with infantile hypophosphatasia and review of literature are presented.

    OBJECTIVES:
    To report the rare occurrence of scoliosis in two siblings with infantile hypophosphatasia and detail problems in the surgical management of scoliosis in this rare disease.

    SUMMARY OF BACKGROUND DATA:
    To the authors' knowledge there is only one reported case of scoliosis in infantile hypophosphatasia. However, there is no report describing the nature of the curve, its progression, or the surgical management of scoliosis in infantile hypophosphatasia.

    METHODS:
    The first sibling was diagnosed shortly after birth to have scoliosis that progressed rapidly despite brace treatment. At 4 years, he underwent anterior convex arthrodesis and posterior T6-L1 Luque trolley stabilization. Because of further curve progression, he had to undergo corrective anterior and posterior osteotomies, stabilization, and fusion at 11 years of age. The second sibling was diagnosed to have scoliosis at the age of 3 years and underwent anterior thoracoscopic release and posterior Luque trolley stabilization.

    RESULTS:
    The first sibling with a mild form of infantile hypophosphatasia had to undergo multiple procedures to attain fusion and arrest of curve progression. The second sibling with a severe variety of infantile hypophosphatasia surprisingly attained a spontaneous fusion of the curve following the initial correction and stabilization with no further progression at 9-year follow-up.

    CONCLUSIONS:
    Curve progression and fusion rates following scoliosis correction are not related to the disease severity or biochemical findings. These rapidly progressive curves are amenable to surgical correction despite the unfavorable metabolic nature of the disease. Hypercalcemia and seizures responding to pyridoxine are complications in the postoperative period of which the surgeon should be aware.

    PMID: 16103841 [PubMed - indexed for MEDLINE]

  6. #321
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    More Information about HPP: (from reputable sources such as NORD, nlm.nih.gov, Soft Bones)

    There are five major clinical forms of HPP that range from an extremely severe form that can cause stillbirth to a form associated with only premature loss of baby (deciduous) teeth, but no bone abnormalities.
    Subdivisions of Hypophosphatasia
    •adult
    •childhood
    •infantile
    •perinatal
    •prenatal benign

    •odontohypophosphatasia
    •pseudohypophosphatasia


    Diseases that can look like HPP
    Symptoms shared with HPP:
    WEAK BONES
    Diseases:
    Rickets
    Osteopenia/ osteoporosis
    Osteogensis imperfect
    Osteomalacia


    Symptoms shared with HPP:
    CHRONIC PAIN AND JOINT PROBLEMS
    Diseases:
    Osteoarthritis/ arthritis
    Rheumatoid arthritis
    Leukemia or bone cancer
    Fibromyalgia
    Pseudogout

    Symptoms shared with HPP:
    TOOTH LOSS
    Diseases:
    Gum disease
    Dentinogenesis imperfect

    Diseases in bold are the most common misdiagnoses.


    What types of medications could be harmful for someone with HPP?
    People with HPP should avoid:
    •Calcium supplements
    •Vitamin D supplements
    •Phosphate supplements (such as bisphosphonates)

    These medications—which may be given to someone who is misdiagnosed with other similar disorders—can make some symptoms of HPP worse.

    People with HPP cannot properly process minerals such as calcium, vitamin D, and phosphate. Adding additional minerals can lead to growth failure, bone lesions, and calcium deposits in the kidneys. Once a patient stops taking the medications, their health may improve.

  7. #322
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    freqency of scoliosis in HPP?

    I contacted the five major reputable organizations that work with HPP and have begun receiving responses. More appears to be known about prenatal benign, perinatal, and infantile subdivisions of this disorder than the other subsections. It is my understanding that physicians are aware there are only 1 in every 100,000 live births and that many newborns & infants die from HPP, so it is unlikely they will see a case of HPP. The agencies appear to be avidly gathering information from each newly diagnosed individual with childhood and adult HPP to add to the database.

    Of the people I have spoken with so far, all 8 of them have scoliosis too (male AND female, children, teen, young and mature adult), yet its comorbidity is not mentioned in literature. Of course it could be a coincidence that I happen to be running into people with HPP who also have scoliosis, but it does make me curious about causation. Could the alkaline phosphate activity itself be causing scoliosis? Could the bones be just soft enough to be deforming ever so slightly? Could there be micro fractures? Could I be an idiot who is speculating without enough data? (I can answer the last question: YES!)

    I am not sure if generally accepted bracing protocols are different for those with HPP and scoliosis or not, but there is a 12yro with a 49 degree curve being treated with a SpineCor brace because she is considered to be at high risk of progressing. Still, I have to wonder if isn't just a chiro taking advantage of a desperate parent. Furthermore, depending on how much the HPP is impacting the child's bones, I wonder if the brace is doing additional damage.

    Lots of questions.

    I am hoping to learn more at the July 21-24 MAGIC Foundation's 22nd Annual Convention.

  8. #323
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    scoliosis is considered to be part of HPP

    Just received info from Soft Bones Representative, scoliosis is considered to be part of HPP--not a separate dx. In fact, every single concern (except PCOS) that has appeared over the years is considered to be part of HPP--even her seizures started and stopped "on schedule". Her height is considered normal for girls with HPP. (4'9") There is a new drug called Strensiq that is used to treat HPP; it is an injection and is taken either 6 days per week or twice a day 3 days per week over their lifespan. They are currently running tests to check dosage for adults as all previous work was completed for infants and children.

    Still can't get an appointment at CHLA to see Dr. Duke because they say they haven't received the necessary documents. Endo says he will send them again--3rd time.
    Last edited by AMom; 07-04-2016 at 03:04 PM. Reason: added info

  9. #324
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    Quote Originally Posted by AMom View Post
    Just received info from Soft Bones Representative, scoliosis is considered to be part of HPP--not a separate dx. In fact, every single concern (except PCOS) that has appeared over the years is considered to be part of HPP--even her seizures started and stopped "on schedule". Her height is considered normal for girls with HPP. (4'9") There is a new drug called Strensiq that is used to treat HPP; it is an injection and is taken regularly over their lifespan.

    Still can't get an appointment at CHLA to see Dr. Duke because they say they haven't received the necessary documents. Endo says he will send them again--3rd time.
    AMom,

    Well it sounds like you figured this out. I really admire your scientific approach to these things.

    One step at a time. You will figure this out.

    Good luck.
    Sharon, mother of identical twin girls with scoliosis

    No island of sanity.

    Question: What do you call alternative medicine that works?
    Answer: Medicine


    "We are all African."

  10. #325
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    Ovarian cysts are part of the disorder so I guess the PCOS fits too.
    Can't believe that even the timing of her "seems to be doing better" matches with what they call the "honeymoon period" for folks with HPP.
    I have never come across any dx that describes her health issues so well.

    Scoliosis treatment does need to be carefully considered as the bones are not as strong as the general population's bones and some of the prescription med.s are contraindicated. They believe that a small percentage of the scoliosis population (those who also have osteoarthritis, osteopenia/ osteoporosis, osteogensis imperfect, & osteomalacia) may have undiagnosed HPP (can't remember the number--a lot of info is coming my way right now).
    Last edited by AMom; 07-04-2016 at 03:10 PM. Reason: added info

  11. #326
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    scoliosis is part of HPP

    Completing scholarship forms to attend the Magic 2016 Convention.
    Last edited by AMom; 07-04-2016 at 03:05 PM.

  12. #327
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    HPP Convention in Chicago

    Yea!!! We received the scholarship to attend the MAGIC Convention. I will post anything I learn as it relates to scoliosis when I return home.

  13. #328
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    Congratulations, AMom! I bet you will feel so much more informed after this meeting.
    Sharon, mother of identical twin girls with scoliosis

    No island of sanity.

    Question: What do you call alternative medicine that works?
    Answer: Medicine


    "We are all African."

  14. #329
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    CHLA tomorrow

    Quote Originally Posted by Pooka1 View Post
    Congratulations, AMom! I bet you will feel so much more informed after this meeting.
    You are right, and I always feel better when I know what to expect.

    Just received a call saying CHLA has an opening tomorrow to see Dr. Duke.

    It is not like me to lose paperwork, but I have not been able to find any of the labs etc. and so have had to call, email, and drive to pick up records all week. It looks as though I will be able to provide labs from Cedars-Sinai, the latest MRI, CT, oral panoramic, & hand x-ray, but not the x-rays from the visit to Betz (mailed thing this morning). I am working on obtaining the labs from PALS, they told me yesterday I have to wait 10-15 days to get copies, but I have a call in to them now and will go to the office to speak with the manager after I am done trying to get the rest of the labs from Valley Children's Hospital.

    I am glad not to have to wait and worry any longer.

    A Mom

  15. #330
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    She does not have HPP!

    Saw Dr. Duke today, he said Rhea does not have HPP, but he is going to run one final test to confirm it. Such a relief. Honestly, the stress of worrying about HPP has been heavy. I am surprised she doesn't have it because it is the first time any dx has come close to including her symptoms & varied dx, but oh so very relieved.

    Their reasoning is based on a number of labs that have been run over the years that show her ALP was low, but not low enough to mean HPP and the argument was made stronger because her B6 was normal--usually those two readings are out of whack (have to be read based on age and gender to obtain correct ranges). She does have "highs" and "lows" on a variety of tests--some incredibly low and others very high, but they do not add up to an all inclusive dx. He seemed to have another idea and added a couple of additional tests to the panel our regular endo is running and said to call if we have any more questions in the meantime.

    I do not want to call. Or ask any questions. If it wouldn't be negligent, I would stop taking her to the doctor all together so that we won't have to go through this ever again.

    HPP is not a kind disorder, so we are thankful she doesn't have to live with what it would bring as she ages.

    A Mom

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