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1
Welcome / Where in the World is The XLH Network, Inc.?
« Last post by GinJones on December 28, 2017, 04:53:22 PM »
Here's where you'll find us (in person, not just virtually) in 2018:

March 2018: Argentina
     Patient advocacy meeting

March 2018: Madrid, Spain
     Patient advocacy meeting

April 7, 2018: Novato, California
     Ultragenyx Pharmaceutical's Patient Day
     https://digital.lenos.com/keymeetings/ultragenyxpatientday2018/Content/Welcome

May 16-20, 2018: Boston, Massachusetts
     American Academy of Clinical Endocrinologists' annual conference

September 28 to October 1, 2018: Montreal, Canada
     American Society for Bone and Mineral Research's annual conference

October 5, 2018: Baltimore/Washington area (details to follow)
     Symposium on Hypophosphatemia: Past, Present and Future

October 5-7, 2018: Baltimore/Washington area (details to follow)
     XLH Day
2
Welcome / Paid Market Research Opportunity
« Last post by GinJones on December 19, 2017, 05:23:27 PM »
A company by the name of Magnolia Innovation is doing some marketing research relevant to the XLH community. They're offering a $125 payment for about an hour of time (beginning in January). Adult patients and the parents/guardians of minor patients are eligible to participate. For more information, visit : https://www.xlhmarketresearch.com/
 
NOTE: The XLH Network, Inc. does not endorse or critique marketing research projects, and does not counsel individual patients either for or against participation in any marketing research project. Prospective volunteers should always carefully review the researcher's documentation, and discuss the pros and cons of participation with trusted advisers.

3
Welcome / The ABCs of XLH
« Last post by GinJones on December 17, 2017, 05:44:07 PM »
A glossary of terms of relevance to the XLH Community.

A is for Arthritis
Arthritis refers to inflammation, pain and stiffness in joints. It is often associated with aging, but in XLHers it tends to occur earlier than in the general population, and is worsened by the way bowed bones are misaligned when they meet at joints, especially in the feet, legs and hips. For information on managing and coping with arthritis, check out the Arthritis Foundation here: http://www.arthritis.org/

B is for Balance
B is for Balance: Current treatment of XLH requires a careful balance of phosphorus supplements with a proportionate amount of calcitriol. When the treatment is unbalanced, it can lead to hyperparathyroidism and kidney calcification. When properly administered, current treatment may reduce dental abscesses but does not appear to reduce enthesopathy (calcification of ligaments and tendons). You can read the journal article here: https://www.ncbi.nlm.nih.gov/pubmed/26176801

C is for Clinician's Guide to XLH
The Clinician's Guide to X-linked Hypophosphatemia is a comprehensive overview of XLH diagnosis, treatment (prior to burosumab) and prognosis, intended for healthcare providers, but of interest to patients who wish to be well-informed. You can download it here: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3157040/

4
Welcome / Re: For journalists
« Last post by GinJones on December 15, 2017, 05:11:49 PM »
Excellent news for the European members of our community! According to a press release today from Ultragenyx and Kyowa Hakko Kirin, "the Committee for Medicinal Products for Human Use (CHMP), the European Medicines Agency's (EMA) scientific committee, has adopted a Positive Opinion recommending the conditional marketing authorization of burosumab, an anti-FGF23 human monoclonal antibody, for the treatment of X-linked hypophosphatemia (XLH) with radiographic evidence of bone disease in children 1 year of age and older and adolescents with growing skeletons."

There's more work to be done before the treatment will be available to patients in Europe, but this is a huge leap forward! A final decision needs to be made by the European Commission, and is expected in the first quarter of 2018. It will apply to all 28 countries of the European Union, Norway, Iceland and Liechtenstein, but individual countries will still need to do additional reviews, largely with respect to payment issues, rather than safety and efficacy issues.

You can read the entire press release here: http://ir.ultragenyx.com/releasedetail.cfm?ReleaseID=1051923
5
General FAQs / Hyperparathyroidism and parathyroidectomy
« Last post by GinJones on November 24, 2017, 08:32:59 PM »
We know that overactive parathyroids (hyperparathyroidism) is a side effect of treatment (and possibly of the  underlying biochemistry of XLH even without treatment), but we don't know the extent to which it exists or what treatment is generally used.

Sometimes adjusting or discontinuing treatment can reduce the parathyroid hormone (PTH) levels, and other times Sensipar (cinacalcet) will reduce PTH levels, and sometimes neither treatment works. Some patients undero either partial or complete parathyroidectomy (removal of the parathyroid glands), but it's complicated surgery and if the parathyroidectomy is partial, we've heard of cases where the glands regenerate and become enlarged again.

Have you had overactive parathyroid glands, and if so, what treatment did you have and was it successful?
6
General FAQs / Re: Meds
« Last post by MarinaV on November 22, 2017, 01:16:53 AM »
I went through that recently with my two daughters.  We decided to stop treatment because both suffer from Nephrocalcinosis.  We wanted to see if the kidneys clear a bit in the absence of phosphorous/calcitriol medication.  After 3 years off, my oldest one had a significant improvement in the kidneys.  Her Phosporous dropped too, and her VitD also.  Her PTH rose.  So she restarted the Rocaltrol with no phosphorous.  So far so good, testing again this weekend.  The younger one, however, was put back in Kphos and Calcitriol after 2 years.  Slightly elevated PTH, but developed Osteoporosis. Keeping the treatment until Burosumab is available for her. 


Stopping medication is only temporary, eventually after 2, 3, 15, or 30 years i is likely to return.   There is a balance between bone issues, kidney issues, dental issues, fatigue, pain .... and the balance is different through our lives.  To treat or not to treat, that is the question. 
7
General FAQs / Re: Meds
« Last post by GinJones on November 20, 2017, 01:43:38 PM »
It is common practice, at least with respect to phos/calcitriol. We strongly recommend, however, that you transition your daughter to an endocrinologist with experience treating XLH adults to monitor her systems and to be prepared for burosumab to be approved by the FDA (assuming it is), so you can discuss whether ongoing treatment would be right for her.

The advice to discontinue phos/calcitriol after the growth plates close is NOT because the body no longer needs phosphorus, but because this treatment is not itself entirely benign -- there are potentially serious side effects (kidney calcification and elevated PTH) from the phos/calcitriol, so the risks and benefits need to be compared.  Kidney calcification and elevated PTH do not appear to happen with burosumab, so the decision whether to continue treatment will be different in the future, and there appear to be significant benefits to maintaining phosphorus levels in adulthood. Phosphorus is not limited to use in bones, but plays a significant role in muscle development and function and also to energy levels. It's yet to be seen whether it will also help with dental and enthesopathy/calcification issues, but that's a possibility too.

Given that burosumab may well be available in just a few months (shortly after the FDA decision in mid-April), it's important to have a discussion with the doctor NOW about whether to transition to burosumab then, rather than to simply go off treatment altogether.

As always, I am not a doctor, just a patient, so you need to discuss the risks and benefits of each treatment option with your daughter's doctor. Even if  you decide she should go off treatment, it's important to have your daughter monitored by an XLH-experienced endocrinologist for changes in symptoms, and not simply kicked loose as happens too often. It's common for patients to have symptoms appear again after they go off treatment, and you'll want to catch the change right away and have a doctor in place to deal with them. Too often, patients wait years (decades) before the symptoms get bad enough to go to a doctor, and by then the consequences (calcifications) can be irreversible.

There's a webinar on transitioning a minor to adult treatment (featuring one of our Scientific Advisory Board members, Maya Doyle) here: https://globalgenes.org/rare-webinar-transition-of-care/
8
General FAQs / Meds
« Last post by LorelleColangelo on November 20, 2017, 02:53:16 AM »
Hi All
It has been suggested that my 17 year old come off all meds now that she has growing. Is this common practice?
9
Welcome / Re: For journalists
« Last post by GinJones on November 12, 2017, 05:43:20 PM »
2018 has the potential to be a life-changing year for the XLH community. Next year may see the approval, all around the world, of the first-ever treatment for XLH (and the related hypophosphatemias) that gets at the root of the problem (phosphate wasting).

But the treatment will only help if the relevant people know about it! Our next big challenge will be to reach everyone in both the patient population and the medical community and then to educate every last one of them about the realities of living with XLH, why treatment is necessary and what the treatment options are.

At the moment, there's a huge disconnect between what the experts know and what's happening in the day-to-day treatment of XLHers by non-experts. While some medical providers are current on their understanding of XLH, there are far too many instances of uninformed medical providers telling patients that there's nothing that can be done to help them (or that their symptoms are unrelated to XLH). Some patients can challenge the bad advice, but may not be able to find any better medical provider, depending on where they live. Or they may lack the knowledge or the resources to successfully challenge their medical providers' statements.

We plan to work on both sides of those conversations. Some initiatives will focus on educating the medical providers so they'll give better advice, and other projects will focus more on educating the patient community about current options so no one will be discouraged by outdated advice.

For the health care providers side of the equation, we'll be attending more medical conferences than ever, including possible going to the meetings of the American Association of Nurse Practitioners and the American Academy of Clinical Endocrinologists; and holding a Patient-Focused Drug Development meeting (attended by a representative of the FDA) in conjunction with XLH Day 2018 (in the Baltimore/Washington area) to create materials (patient testimony and guided discussions that are videotaped and then transcribed for dissemination) about the adult symptoms of XLH.

For the patient side of the equation, we'll be creating and sharing some short videos by experts on various aspects of XLH and publishing age-appropriate materials to help children understand their XLH. Plus, as we've done every year since 2001, we'll be offering the community all the resources of XLH Day, with expert speakers and a chance to network with other XLHers and their families.

10
General FAQs / Re: Bony Growths
« Last post by GinJones on August 24, 2017, 02:21:32 PM »
It's possible that they're what doctors call entheses, or calcification of ligaments where they attach to the bone (and the condition is called enthesopathy, which no one can pronounce!).

I have a lot of them (hip and foot, in particular), and in my case, they only hurt while they're forming or expanding. Otherwise, they don't hurt, but they do restrict the range of motion for the affiliated joint, since what should be rubbery (the ligament) has now essentially turned to stone (calcium).

I also have some calcifications that never hurt at all, but they're not in places like joints that move around and might irritate the calcification. Most particularly, I have one on the back of each hand, about an inch up from the wrist and about halfway across the hand, but a bit closer to the thumb. I have pictures of it somewhere, and I'm going to be on the road today and tomorrow, but when I get back I'll try to remember to upload a picture.

On the other hand, I'm not a doctor, and there are things that can appear like calcifications, but aren't. I've got what I thought was a calcification on the palm of my hand, but apparently it's something else, unrelated to XLH (and I'm blanking on the actual diagnosis). So definitely have it checked out by a doctor, just in case it's something else. A rheumatologist might be your best bet for this.
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