Recent Posts

51

Forum FAQ / READ THIS FIRST: Getting started

« Last post by GinJones on January 02, 2016, 10:39:25 PM »

You got here! Congratulations. This is a great place to get and share information with other XLH members. It may look overwhelming to see so much information all at once. Let us help.

If you are:

Adult with XLH, without XLH children: You may be primarily interested in reading and posting in our Adult section. You can subscribe to each of the main topics in that section, or to a single topic if there's only one on your mind at present, and then you can come back later to look at other topics as your circumstances change.

Non-XLH adult with a child with XLH: You may be primarily interested in reading and posting in our Pediatric section. Some pediatric concerns, like hearing and dental issues, may be repeated in the adult section with slightly different emphasis, so you may want to check both sections if you don't get the answers you want in the pediatric section. If your child has just been diagnosed and you've never heard of XLH before, you are not alone. Visit the Parents' Corner to see what others have experienced or to ask questions or subscribe to that topic if you prefer to absorb the experiences of other parents. As with other sections, you can subscribe to each of the main topics in that section, or to a single topic if there's only one on your mind at present, and then you can come back later to look at other topics as your circumstances change.

In need of some more private advice? Perhaps there's something you don't feel comfortable sharing with someone who doesn't have XLH or isn't the parent of an XLHer. There are some specific places for that, where only "full members" (those who have XLH or are the legal guardian of a minor XLHer) have access.

First, there's the Adult Hang-out http://vps.xlhnetwork.org/~xlhforum/forum/index.php?board=80.0 for adults to discuss particularly sensitive issues that adults may face.  It’s not easy sometimes to ask others for an opinion on some, but this is a good place to ask. We expect all members to be particularly respectful of privacy here and to take special care here to treat all posts with respect, support and a non-judgmental attitude.

Second, there's the Parents' Corner. http://vps.xlhnetwork.org/~xlhforum/forum/index.php?board=49.0 This is like the Adult Hang-out, but focused on the sensitive issues that parents or prospective parents may face. Like in the Adult Hang-out, we  expect all members to be particularly respectful of privacy here and to take special care here to treat all posts with respect, support and a non-judgmental attitude.

Finally, there's the Kids' Hangout http://vps.xlhnetwork.org/~xlhforum/forum/index.php?board=79.0 for XLH children to get to know and interact with others with their rare condition. Only members who are under the age of sixteen will have access to this section.

What if you have more general questions? The Helpful Information area is where you can ask about insurance, disability benefits, finding a specialist and the latest on medical research and clinical trials. Finally, the Community section is where you can comment on social media postings and learn more about the XLH Network, Inc. XLH Day and getting more involved with the XLH community.

NOTE: Thanks to member Marina Velazquez for drafting this explanation for getting started.

52

Forum FAQ / How to get posts as an email digest

« Last post by GinJones on January 02, 2016, 09:27:48 PM »

This sounds complicated, but after the first time, it's easy. If you try, and can't figure it out, PM a moderator with your choices: immediate emails, daily or weekly, and whether you want just a notification or the notification plus the post itself. 

First, choose a topic, like "dental" issues in either the adult or pediatric area (you can change this later).

Second, click on the topic. There will be an index of all the threads in that topic. At the bottom of the page, you'll see the word "notify." Click on that. You'll get a popup message that asks if you're sure. Click "okay."

Third, go to the blue bar at the top of the page and click on "profile."

Then, beneath the blue bar, to the right, you'll see three boxes. The middle one is "modify profile." Hover over that, and you'll get a drop-down menu. Choose "notifications."

Now, you get to make your choices for what notifications you want and how often.

If you want to get the entire posted message (not just a notification that will allow you to decide whether to go read it at the forum), then mark the third box ("When sending notification of a reply to a topic, send the post in the email.") Note that you cannot respond to these emails, but need to go to the forum if you want to post a response or ask a follow-up question.

If all you want is to get a notice that someone has posted, without the actual message (so you can decide whether to go read it or ignore it), skip down past the first three lines with the checkboxes.

Finally, you need to decide how you want to get the notifications. Beneath the three check-box options are two more questions. In the first one, the drop-down box allows you to choose whether to get the notices immediately (like the old default option on the listserv), daily (like the digest option on the listser) or once a week (a new option). For the second question, you probably want to choose "only replies."

From there on out, you can change which boards (the big subjects like "dental issues") and which threads (the individual questions within the board) you want to get by email simply by checking "notify" on the main page of the board or on an individual topic. You can cancel the notifications either by going to the board/topic where you'll see "unnotify" where "notify" used to be, or else you can cancel them from this page, where you set you preferences initially.

53

Forum Policies / Basic rules for forum usage

« Last post by GinJones on September 01, 2015, 11:05:55 PM »

1. Be nice. We're all in this together.

2. Respect copyright. Don't quote or upload an entire article unless you wrote it yourself. Either share just a snippet of it (fair use) or provide the URL for the original article.

3. No shortened links. When linking to information outside the forum, use full URLs, not shortened versions from services like bitly/tiny url.

4. No soliciting or blatant self-promotion. This includes traditional promotion of products or services, as well as requests for help with a specific patient's medical expenses or soliciting for campaigns at crowdfunding sites like kickstarter or gofundme.

5. Stay on topic. For example, a question/comment about root canals belongs in the dental area, not the kidneys area. We understand that sometimes a topic may not be clearly defined (e.g., perhaps a question about root canals also involves pain management), so do your best to figure out where your question/comment fits, and if a moderator thinks it belongs somewhere else, it will be moved to another topic or to a new thread of its own.

6. Use English (except in the Global Community area). For consistency's sake and to allow for moderation by primarily English-speaking moderators, we request that you post in English, whether it's your own stab at the language, or by translating your comment/question through something like Google translate before posting. We also expect members who are native English speakers to refrain from policing other posters' use of language.  We expect all members to treat others with respect, so don't worry if your English isn't fluent.

7. No forwarding/sharing of sensitive material outside the forum. Please respect members' privacy and do not forward any sensitive material, particularly from the Adult Hangout, Kids Hangout and Parents Corner.

54

Forum FAQ / How to post pictures

« Last post by MarinaV on August 23, 2015, 10:06:56 PM »

Clicking the left button above the smiley icons will embed a publicly found image like the following familiar XLH Network picture.
Or you can upload a picture using the "Attachment and Other Options".  The attachment must be under 128K size.  If your picture is larger you can use a picture editor software package installed on your computer, if any, or use websites such as http://picresize.com or http://webresizer.com or similar


 

55

Welcome / Video on Growing Up With XLH

« Last post by GinJones on February 10, 2015, 12:44:32 AM »

You can find the video here:

Many thanks to Quinnipiac University for their work on this video.

For future reference, there's also a link to it at our youtube channel, if you want to set a bookmark for that: https://www.youtube.com/channel/UCOCxS6CV6NeNxoFFivOyNpg

56

Welcome / Welcome

« Last post by GinJones on February 01, 2015, 06:53:53 PM »

The forums contain a wealth of information, with links to medical articles and ongoing research, as well as anecdotal experiences by those living with XLH.

Only a few of the myriad of topics are available without registering with the forum, primarily general FAQs. Once  you join the forum, you will find that it is broken into several main areas, starting with "adult issues" and "pediatric issues," where there are more in-depth discussions on topics such as dental issues, pain management, hearing, etc. There are also two additional main areas available to those who register, one on general issues (e.g., insurance, ongoing research and clinical trials) and another on community issues (e.g., XLH Day and what the board of directors are up to).

We invite everyone who has XLH, is related to an XLHer, is a caretaker for an XLHer, is a medical provider for an XLHer or is simply interested in this rare metabolic bone disorder to join the forum as an "extended family / etc." member. Full membership, however, is limited to XLH patients and the parents/guardians of children with XLH.
The information in this forum is provided as a public service and is for informational and educational purposes only.

Before you choose a user name, please remember that anything you put on the internet, despite the forum administrator's best efforts, may well become public knowledge. If you would like to add an extra layer of protection (nothing's infallible, remember) in a place where sensitive matters may be discussed, you may wish to choose a user name that is NOT your real name. You may do so, and all of your postings here will reference that pseudonym. You will need to provide a real name during the registration process, which is only for the use of the XLH Network, Inc.'s membership records, not for public access.

If you prefer not to join the forum, you can find our official page at Facebook (facebook.com/xlhnetwork) but note that simply following us initially will NOT guarantee you receive our messages; if you want to be sure to get them in the future, please like, comment or share a post from our page at least once a week). You can also follow us on Twitter (@XLH_Network), or subscribe to our blog (thexlhnetwork@blogspot.com).

The XLH Network, Inc. is incorporated in New York State as a not-for-profit corporation, qualifying for 501(c)(3) tax-exempt status as a public charity.  It is not engaged in providing medical advice or professional services.  Nothing herein should be used for diagnosing any health problem or disease, nor construed as the prescription of medication or treatment for XLH or any other medical condition. In particular, information on this website does not substitute for professional care. The information provided here is designed to support, not replace, the relationship that exists between a patient/site visitor and his/her existing doctor. If you have XLH or suspect any problem with your health, consult your doctor or other health care provider.

All statements, case histories, stories, narratives, or discussions made within the pages of this forum regarding medical or dental symptoms, treatment, or the results thereof, should not be taken as indications of diagnosis, or proof of relief, cure, or even of general use to all.  XLH has so many differences in symptom severity that each experience, although similar, should be taken as unique and not necessarily related to the experience of anyone else. All information is for educational purposes only and is not applicable to any individual patient or person. All statements should be checked thoroughly with the source and/or your own medical supporters and caregivers.

Unless otherwise stated, the information on these pages has not been written by medical professionals nor by individuals with any specialized medical or legal training. Every effort has been made to ensure the accuracy of the information provided on the website, but The XLH Network, Inc. can neither be held responsible for such information nor be held responsible for information on linked sites.

Statements by general members of the Network do not not necessarily represent the opinions of the XLH Network, Inc. Statements in posts made here by officers and board members of the XLH Network, Inc., reflect only the individual person's opinion unless the posting is specifically stated to be the position of the XLH Network, Inc.

Confidentiality of data relating to individual patients and visitors, including their identity, is respected. The XLH Network. Inc., subscribes to the HON code principles of the Health On the Net Foundation, and we have an ethics committee to address any ethical issues the XLH Network, Inc. may confront.

57

Welcome / DISCLAIMER: Not a substitute for medical advice

« Last post by GinJones on February 01, 2015, 06:37:19 PM »

The information in this forum is provided as a public service and is for informational and educational purposes only.

The XLH Network, Inc. is incorporated in New York State as a not-for-profit corporation, qualifying for 501(c)(3) tax-exempt status as a public charity.  It is not engaged in providing medical advice or professional services.  Nothing herein should be used for diagnosing any health problem or disease, nor construed as the prescription of medication or treatment for XLH or any other medical condition. In particular, information on this website does not substitute for professional care. The information provided here is designed to support, not replace, the relationship that exists between a patient/site visitor and his/her existing doctor. If you have XLH or suspect any problem with your health, consult your doctor or other health care provider.

All statements, case histories, stories, narratives, or discussions made within the pages of this forum regarding medical or dental symptoms, treatment, or the results thereof, should not be taken as indications of diagnosis, or proof of relief, cure, or even of general use to all.  XLH has so many differences in symptom severity that each experience, although similar, should be taken as unique and not necessarily related to the experience of anyone else. All information is for educational purposes only and is not applicable to any individual patient or person. All statements should be checked thoroughly with the source and/or your own medical supporters and caregivers.

Unless otherwise stated, the information on these pages has not been written by medical professionals nor by individuals with any specialized medical or legal training. Every effort has been made to ensure the accuracy of the information provided on the website, but The XLH Network, Inc. can neither be held responsible for such information nor be held responsible for information on linked sites.

Statements by general members of the Network do not not necessarily represent the opinions of the XLH Network, Inc. Statements in posts made here by officers and board members of the XLH Network, Inc., reflect only the individual person's opinion unless the posting is specifically stated to be the position of the XLH Network, Inc.

Confidentiality of data relating to individual patients and visitors, including their identity, is respected. The XLH Network. Inc., subscribes to the HONcode principles of the Health On the Net Foundation, and we have an ethics committee to address any ethical issues the XLH Network, Inc. may confront.

58

General FAQs / Early diagnosis

« Last post by GinJones on January 24, 2015, 09:19:48 PM »

Early diagnosis is particularly important for XLH patients. The current treatment regimen (phosphorus and Calcitriol/Rocaltrol) is generally not begun at birth, but should, ideally, begin before the child begins to crawl and walk, placing full weight on soft bones.

You would think that diagnosing the child of someone who has XLH would be relatively simple, given that, statistically, the children of a woman with XLH have a 50/50 chance of inheriting the condition, and ALL of the daughters of a man with XLH will inherit the condition. Nevertheless, both the fluctuations of mineral levels in infant blood and the rarity of the condition leads to delays in diagnosis, even when the parent knows he/she has XLH.

One problem is that the "normal" values for the phosphorus in a child's bloodstream are higher than in an adult, and doctors (and labs) unfamiliar with XLH may not be aware of this. As a result, the doctor/lab uses the lower "normal" values for adults for comparison, instead of the higher values for a child, which makes the blood tests look normal. One thing you can do for an XLH child is to make sure you get copies of all lab reports. That way, you can be sure that they're comparing the results to the child's normals (we have links elsewhere here) and get a second opinion if it doesn't look right to you. (NOTE: reading and making recommendations based on lab tests requires professional medical expertise, so you should not make any treatment decisions. It can't hurt, however, to familiarize yourself with the tests, so you'll understand what you're being told by the doctor and you'll notice over time when something changes, so you can discuss it with the doctor.)

Diagnosis is more complicated for "spontaneous" cases (where neither parent has XLH, and the condition is a new mutation in the child). Based on the combined experiences of the Network's members, it appears that diagnosis generally happens around age three, when the effects of weight-bearing on too-soft bones become too severe to dismiss as merely an optical illusion caused by diapers (the "all babies look bow-legged" response too many parents are familiar with), generally after a year or more of the parent seeking a diagnosis before the doctor acknowledges that there's a problem, goes through more common conditions and finally thinks to test for phosphorus wasting.

Either way, a preliminary diagnosis can be arrived at through simple blood tests, once XLH is suspected. When the phosphorus level is low and the calcium level is normal, that's highly suggestive of XLH in a child who has either bowed legs or an XLH parent. More refined testing can be pursued after that, including more blood tests (creatinine and parathyroid hormone levels) and x-rays. In some cases genetic testing can be pursued to identify the exact location of the defect in the DNA. It should be noted, however, that the specific gene where the defect occurs does not appear to affect either the symptomatology or the treatment.

59

General FAQs / How is XLH inherited?

« Last post by GinJones on January 24, 2015, 08:58:33 PM »

Technically, XLH refers to hypophosphatemia that is "X-linked" (i.e., the relevant genetic defect is on the X chromosome), and the genetic transmission is explained below. Note, however, that "autosomal dominant" version (the relevant genetic defect may not be on the X chromosome) is informally referred to as XLH, but the genetic transmission is slightly different. The only way to know for sure which version a patient has is through genetic testing. Whether the defect is on the X chromosome or elsewhere does not appear to affect the symptomatology, although there is no scientific research on the topic.

There's a good explanation of the genetic transmission of x-linked conditions (both dominant and recessive; keep in mind that XLH is a DOMINANT condition) here (and click on the illustrations if you're a visual learner): http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns

You can find information about autosomal transmission there as well. Again, it is believed that in MOST autosomal cases, the condition is DOMINANT, although a vanishingly small number of RECESSIVE cases have been identified.

A genetics counselor explained how XLH is transmitted at West Coast XLH Day in 2015. Here's the video of that presentation:

The simple version (for true XLH) is:

A woman has a 50/50 chance of transmitting the defective gene to each of her children, who will then have XLH. If she has four children, regardless of their gender, the odds are that two would have XLH and two would not. (Of course, that's just a statistical average, and actual outcomes may be different.)

A man will transmit the defective gene to ALL of his DAUGHTERS ONLY (and none of his sons). Thus, if he has four children, and two are girls and two are boys, then both girls will have XLH and neither boy will have XLH.

The gender of the child shouldn't matter for autosomal cases, so a father with autosomal hypophosphatemia may have a daughter withOUT XLH.

One frequently repeated myth is that someone can be a "carrier" for XLH without having the condition him/herself. That is only true of recessive conditions, and XLH (including most autosomal versions) are DOMINANT. That means that if the person has the genetic defect, and is capable of passing it on to the next generation, he/she will also have hypophosphatemia.

This misconception arises from two common situations with XLH:
1. the symptoms are variable, so a mildly affected parent (especially women who tend to have less severe symptoms at least during childhood and early adulthood) may not be aware he/she has it until his/her child is diagnosed with XLH and doctors then check the parents' blood levels for phosphorus wasting.

2. A substantial number of XLH patients are "spontaneous" cases. This just means that the defect first occurred in that patient's DNA during conception, much like any birth defect happens. There's a natural, human tendency to want to explain the spontaneous mutation, to look for someone in the family who might have had been a carrier. Unless that person was one of the patient's parents (see the first example of an undiagnosed case) who simply hadn't been diagnosed, there won't be an answer. The mutation is simply a random event. Neither parent has XLH and neither parent is a carrier. The child simply has a new, or "spontaneous" mutation, just as somewhere in genetic history there was a spontaneous mutation that led to generations of XLH patients, and the children of the spontaneous XLH patient will inherit in the pattern described above.

60

Welcome / XLH Network brochure

« Last post by GinJones on January 22, 2015, 12:00:01 AM »

You can find our brochure for download and printing here: http://xlhnetwork.org/files/7813/9680/2734/XLH_brochure.pdf