Recent Posts

31

Technical Support & Forum Feedback / Re: Activating Notification for all Forum Adult Issues

« Last post by GinJones on September 11, 2016, 07:26:18 PM »

It can't be done with a SINGLE click, but the instructions for getting messages by email are here: http://vps.xlhnetwork.org/~xlhforum/forum/index.php?topic=149.0

The instructions look complicated, but mostly it's just because there are so many different options. It only takes a minute or two to set it and then you can forget it. First, you choose one thread to follow, set your defaults for how to get the messages, and then you can click as many (or as few) other threads as you wish.

Another option, rather than getting messages by digest, is just to make a habit of checking in once a week or once a month or whatever frequency works for you. (Some people find it overwhelming to get messages every day or even every week, so this option is good for those who want to control when they want to be involved.) From the main page, scroll down to the bottom, and you'll see a link for "recent messages," which you can then scroll through.

32

Technical Support & Forum Feedback / Activating Notification for all Forum Adult Issues

« Last post by Tony N on September 11, 2016, 05:42:14 AM »

Is there a single pick mechanism or method to receive notification when any / all of the forums 19 adult subject categories contain new comments? This would be similar to the listserv daily digest email notifying members of said Forum activity.
Secondly; can a sticky or other on-going notice be placed on the listserv digest header that either recommends the user attempting to send any new message be referred to the Forum web address or can a hyperlink redirect to the Forum be included? There is apparently daily Forum activity that many of us have missed, for one reason or another, since we don't log on to the Forum everyday.
Thanks

33

General FAQs / MOVED: Patient stories

« Last post by GinJones on July 06, 2016, 01:35:10 PM »

This topic has been moved to Patient Advocacy.

http://vps.xlhnetwork.org/~xlhforum/forum/index.php?topic=243.0

34

Welcome / For Medical Professionals

« Last post by GinJones on March 23, 2016, 06:12:02 PM »

Looking for the latest in hypophosphatemia research and news? We've got the links here, or you can sign up to receive the updates in a newsletter (once or twice a year) with the latest news and research citations: http://eepurl.com/bVz6O5

Recent news:

Phase 3 clinical trials (adults with XLH) have begun for KRN23, a recombinant human immunoglobulin G isotype 1 (IgG1) monoclonal antibody (mAb) that binds to and inhibits the activity of fibroblast growth factor 23 (FGF23). For more information (two separate trials): https://clinicaltrials.gov/ct2/show/NCT02526160?term=XLH&rank=1 or https://clinicaltrials.gov/ct2/show/NCT02537431?term=XLH&rank=2

A Phase 2 clinical trial has begun for adults with TIO, also for KRN23, a recombinant human immunoglobulin G isotype 1 (IgG1) monoclonal antibody (mAb) that binds to and inhibits the activity of fibroblast growth factor 23 (FGF23). https://clinicaltrials.gov/ct2/show/NCT02304367?term=TIO&rank=1

Phase 3 pediatric trials for the same treatment are expected later in 2016.


For basic information on hypophosphatemia, check out:

A CLINICIAN'S GUIDE TO X-LINKED HYPOPHOSPHATEMIA, by Thomas O. Carpenter, Erik A. Imel, Ingrid A. Holm, Suzanne M. Jan de Beur, and Karl L. Insogna (2011), available for download here: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3157040/

THERAPEUTIC MANAGEMENT OF HYPOPHOSPHATEMIC RICKETS FROM INFANCY TO ADULTHOOD. Linglart A1, Biosse-Duplan M, Briot K, Chaussain C, Esterle L, Guillaume-Czitrom S, Kamenicky P, Nevoux J, Prié D, Rothenbuhler A, Wicart P, Harvengt P., Endocr Connect. 2014 Mar 14;3(1):R13-30. doi: 10.1530/EC-13-0103. Print 2014. PMID: 24550322   http://www.endocrineconnections.com/content/3/1/R13.full.pdf+html

HOW FIBROBLAST GROWTH FACTOR 23 WORKS. Liu S1, Quarles LD. J Am Soc Nephrol. 2007 Jun;18(6):1637-47. Epub 2007 May 9.  http://www.ncbi.nlm.nih.gov/pubmed/17494882

While developed in the context of nutritional rickets, the following may have applicability to understanding the x-rays of XLH patients: RADIOGRAPHIC SCORING METHOD FOR THE ASSESSMENT OF THE SEVERITY OF NUTRITIONAL RICKETS, Tom D Thacher, P.R. Fischer, John Pettifor, Juliana Olufunke Lawson, b.J. Manaster, J.C. Reading. https://www.researchgate.net/publication/12425132_Radiographic_scoring_method_for_the_assessment_of_the_severity_of_nutritional_rickets


Recent journal articles:

CONVENTIONAL THERAPY IN ADULTS WITH XLH IMPROVES DENTAL MANIFESTATIONS, BUT NOT ENTHESOPATHY, Commentary by Econs MJ., J Clin Endocrinol Metab. 2015 Oct;100(10):3622-4. doi: 10.1210/jc.2015-3229. PMID: 26439151 http://www.ncbi.nlm.nih.gov/pubmed/26439151

CONVENTIONAL THERAPY IN ADULTS WITH X-LINKED HYPOPHOSPHATEMIA: EFFECTS ON ENTHESOPATHY AND DENTAL DISEASE.  Connor J, Olear EA, Insogna KL, Katz L, Baker S, Kaur R, Simpson CA, Sterpka J, Dubrow R, Zhang JH, Carpenter TO.  J Clin Endocrinol Metab. 2015 Oct;100(10):3625-32. doi: 10.1210/JC.2015-2199. Epub 2015 Jul 15. PMID: 26176801 http://www.ncbi.nlm.nih.gov/pubmed/26176801

Other materials:

Poster from ENDO2015 with results from a burden of illness study. Alison Skrinar, PhD, Ayla Marshall, Javier San Martin, MD, and Melita Dvorak-Ewell, PhD.  X-Linked Hypophosphatemia (XLH) Impairs Skeletal Health Outcomes and Physical Function in Affected Adults.  http://www.ultragenyx.com/file.cfm/22/docs/KRN23%20-%20ENDO%20adult%20disease%20burden%20poster%20March%202015.pdf

Poster from ENDO2015 with results from a burden of illness study. Agnes Linglart, MD, PhD , Melita Dvorak-Ewell, PhD , Ayla Marshall , Javier San Martin, MD , and Alison Skrinar, PhD.  Impaired Mobility and Pain Significantly Impact the Quality of Life of Children with X-Linked Hypophosphemia (XLH). http://www.ultragenyx.com/file.cfm/22/docs/KRN23%20-%20ICCBH%20pediatric%20disease%20burden%20poster%20June%202015.pdf

35

Technical Support & Forum Feedback / Re: Beta testing comments

« Last post by GinJones on March 19, 2016, 04:24:23 PM »

Just hover over the "profile" tab, then choose "account settings." On that page, scroll down to the question about "what type of member are  you," and you'll see a dropdown box. Click on the arrow, and it'll give you the various options, including something like "adult with XLH/parent of patient." Once you've chosen the option, scroll down and click the "save changes" button.

If for some reason it doesn't work, PM me and I can change it as an administrator.

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Technical Support & Forum Feedback / Re: Beta testing comments

« Last post by mariafaver on March 19, 2016, 12:48:38 PM »

Hi
on my profile, under "what type of member are you".....it says that I am a friend of relative.....
how do I change this status to be "XLH patient"?
thanks
Maria

37

General FAQs / Pink Vision and double vision ?

« Last post by Amanda Jacobs on March 16, 2016, 10:28:17 PM »

Hi all
My 8yo XLH daughter experienced double vision in December which came from nowhere and lasted 3 days.  Nobody could give us a theory on this and it resolved itself in 3 days.  However, for one week now, she has had pink vision in one eye.  She also has had a low grade headache over that eye for as long as she can remember.  She has been thoroughly checked by an Opthalmologist at the Emergency Eye Clinic at our local general hospital who could find nothing at all wrong with her eyes.  Has anybody else experienced this or heard of these syptoms?  We are worried it could be something neurological.  Thanks in advance.

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General FAQs / Re: When is genetic testing indicated?

« Last post by karendaks on February 29, 2016, 08:10:06 PM »

Gin, thanks so much for your thoughtful reply. It was very helpful;particularly the ADHR explanation, though I have heard of it, didn't know anything about it or how it could be inherited.  Was worried that perhaps I was missing some information, and that this son could have it but not present with any of the XLH issues. Since he has normal labs, height 6'2" and none of the XLH symptoms, my mind is now at ease.

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General FAQs / Re: When is genetic testing indicated?

« Last post by GinJones on February 29, 2016, 05:51:35 PM »

A genetics counselor spoke at last year's XLH Day, and her presentation was taped, so you can see it at youtube:

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You might suggest to your son that he consult a genetics counselor, just for his peace of mind. I believe the speaker in that video gives a website where you can locate accredited counselors.

Personally, and this is just me speaking, and I'm not a doctor, just a layperson, but it seems HIGHLY unlikely that your son could transmit the mutation that causes XLH. Technically, he couldn't pass along the X-linked version of hypophosphatemia, because it's a dominant condition, so if he had the mutation in his genes, he would also have the condition and, at a minimum, low phos in the blood. He also couldn't pass along the ADHR (Autosomal Dominant Hypophosphatemic Rickets) version, because it, too, is dominant.

There have, I believe been a vanishingly few number of reported cases of a recessive version, but the odds against having that are astronomical.

40

General FAQs / When is genetic testing indicated?

« Last post by karendaks on February 29, 2016, 01:15:17 AM »

I am a spontaneous case of XLH. I gave birth to two sons, now adults. My youngest son inherited the condition from me.   My question is regarding my oldest son.  He  has never had any symptoms of XLH, his labs from the time he was born have always been normal. He will be planning a family in the near future. Is there any reason why he should have testing? Thanks in advance for any insight you can provide.