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1
General FAQs / Starting Family / PGD
« Last post by TomB82 on January 20, 2019, 10:54:44 PM »
Hi all,

My partner and I are looking into starting a family but due to having XLH, we are considering PGD. This is obviously a sensitive subject but if anyone has experience of Preimplantation genetic diagnosis (PGD) and are happy to share your experiences/answer some questions, please can you message me privately.

Many thanks,
T
2
General FAQs / Re: Hyperparathyroidism and parathyroidectomy
« Last post by GinJones on December 18, 2018, 03:21:40 PM »
According to the Clinician's Guide to XLH, which you can download for free with a link here: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3157040/

the elevated parathyroid hormone is due to too much phosphorus supplementation in relationship to the one-alpha (or, as more common in the U.S., calcitriol):

Quote
PTH levels are routinely measured, as secondary hyperparathyroidism is common. Increasing PTH levels may be corrected by increasing the calcitriol dose or by reducing the phosphate dose.

So, when PTH is high, the calcitriol (or one-alpha) should be INCREASED or the phos DECREASED. Not the other way around.

Note that the Clinician's Guide is somewhat outdated insofar as it doesn't discuss burosumab treatment (which does not appear to raise PTH levels), but the information about previous treatment regimens is still good.
3
General FAQs / Re: Hyperparathyroidism and parathyroidectomy
« Last post by Debbie McFarlane on December 17, 2018, 09:18:25 PM »
Hallo all, I am a 59 year old who has  been on treatment of one alpha & phosphate Sandoz ,for many years - over the last year my blood calcium and parathyroid levels have gone high for no apparent reason, my endocrinologist  keeps reducing the one alpha, but the levels just keep rising.  He is not a specialist in xlh and I want to find out as much information that I can pass on to him and hopefully get to the bottom of what is happening to me. After reading through some articles I am now wondering if it is not the one alpha that is the problem but the phosphate Sandoz. Has anyone else had this happen to them? Thankyou
4
Welcome / Re: For journalists
« Last post by GinJones on September 06, 2018, 05:05:35 PM »
The XLH Network, Inc.
Yesterday at 4:04 AM ·
We are absolutely thrilled to announce this morning that burosumab has been APPROVED for routine use on the UK’s NHS for children from 1 years old up to young adults aged 16/17 years.

This news completely changes the landscape for the estimated 250 children living with XLH in the UK. Burosumab will be the first and only treatment that targets the cause of the hypophosphatemia in the body. The treatment helps reduce symptoms during childhood and by reducing bone damage during childhood growth it could mean the potential for a better quality of life for children later in their lives too.

We want to say a MASSIVE thank you to all those individuals who shared their experiences with us and with NICE so that decision-makers could understand what this treatment will really mean to patients and their families. Without all of your input this decision to approve burosumab may not have been made.

For those that can’t quite believe their eyes this morning, please visit NICE for the full guidance on children with XLH. If you have further questions about the treatment and whether it is right for your child then please do speak to their paediatrician that manages their XLH.

Since this news is so important, we at XLH UK have put together a press release. See link.
https://www.dropbox.com/s/o97z8m8nswd79m2/PR_xlhuk.pdf?dl=0

Whilst access to burosumab on the NHS will just be for children for now, let me assure you that the fight for the adult license has begun.

Meanwhile please please do stay tuned and encourage other XLH’ers in the UK & their families to join our XLH-UK facebook page because we’re so much stronger together.

https://www.nice.org.uk/…/gid-hst1…/documents/html-content-2
5
Welcome / Re: We need your help to ensure access to life-changing treatment.
« Last post by GinJones on September 06, 2018, 05:04:46 PM »
We are absolutely thrilled to announce this morning that burosumab has been APPROVED for routine use on the UK’s NHS for children from 1 years old up to young adults aged 16/17 years.

This news completely changes the landscape for the estimated 250 children living with XLH in the UK. Burosumab will be the first and only treatment that targets the cause of the hypophosphatemia in the body. The treatment helps reduce symptoms during childhood and by reducing bone damage during childhood growth it could mean the potential for a better quality of life for children later in their lives too.

We want to say a MASSIVE thank you to all those individuals who shared their experiences with us and with NICE so that decision-makers could understand what this treatment will really mean to patients and their families. Without all of your input this decision to approve burosumab may not have been made.

For those that can’t quite believe their eyes this morning, please visit NICE for the full guidance on children with XLH. If you have further questions about the treatment and whether it is right for your child then please do speak to their paediatrician that manages their XLH.

Since this news is so important, we at XLH UK have put together a press release. See link.
https://www.dropbox.com/s/o97z8m8nswd79m2/PR_xlhuk.pdf?dl=0

Whilst access to burosumab on the NHS will just be for children for now, let me assure you that the fight for the adult license has begun.

Meanwhile please please do stay tuned and encourage other XLH’ers in the UK & their families to join our XLH-UK facebook page because we’re so much stronger together.

https://www.nice.org.uk/…/gid-hst1…/documents/html-content-2
6
Welcome / We need your help to ensure access to life-changing treatment.
« Last post by Oliver Gardiner on June 18, 2018, 09:21:53 PM »
As some of you may be aware, burosumab (Crysvita) is being reviewed by the UK’s medicine guidelines organisation that we refer to as The National Institute for Health and Care Excellence (NICE).

They have published their first stage recommendation and unless something happens to change their mind, NICE will not recommend burosumab for use by the National Health Service (NHS) in the UK. The committee acknowledges that XLH is a serious condition, that childhood is the best time for treatment, and that burosumab is more effective than standard treatment, but NICE still concluded, in essence, that the benefits of treatment are not worth the cost. Much of their consideration, however, is based on the assumption that treatment would stop at age 18 (since burosumab is only approved for use by children in Europe), and then, as with current treatment, some symptoms would recur because there is no permanent fix to the metabolic system. Their decision also doesn't fully acknowledge the extent of both short-term and long-term benefits from the best possible treatment during childhood.

We still have time to act to change this outcome for children and families living with XLH across the UK.

NICE has given the public an extremely short window, just until July 6, to comment on their recommendation. Comments may be submitted from anywhere in the world, although UK residents' opinions are particularly important. Therefore we ask that you follow these simple steps to submit comments that will be reviewed in the next evaluation committee hearing in the hope that we can turn this decision around.

1. To comment, you must register at NICE using this link https://goo.gl/RYd2Cz.
2. To be effective in submitting your comment, it's important to focus on specific issues that might change their evaluation. We've broken their feedback down to make it easy for you. The evaluation committee is interested in receiving comments on the following:
a) How do symptoms (physical and psychological) and treatments (including any surgery) from childhood affect you or your child in adult life?
b) For children on standard treatment (phosphate and calcitriol), what are the side effects of taking current treatment? How is that a burden for the child and your family?
c) If you have a child who is 1-12 years old and on burosumab, please explain how this treatment is currently helping in the short-term and how you expect that it will help in the long-term.
d) If you have a child who is 13-17 years old and on burosumab, please explain how this treatment is currently helping in the short-term and how you expect that it will help in the long-term.

Remember that the closing date for comments is July 6, 2018, no excuses, no extensions. If you want to be heard on access to burosumab in the UK, you must speak up now.

We have been assured that every comment from the public is taken seriously and has the power to turn this decision around so that all children with XLH can benefit from this life-changing treatment in the UK.

Finally, if you have any questions, feel free to comment below, message me privately or email at oliver.gardiner@xlhnetwork.org.

We will update you on the progress as soon as we are able, and we want to thank you each of you in advance for submitting a response. #powerinnumbers #XLHStrong #SetTheRecordStraight
7
Welcome / Patient-focused Webinar about burosumab
« Last post by GinJones on May 06, 2018, 10:04:35 PM »
Featuring Thomas Carpenter, M.D., and Karl Insogna, M.D. on how XLH works, and how burosumab changes the equation, plus Sara Show on the experience of a parent with a child in a clinical trial for burosumab and Robert DeRemer on the experience of an adult patient in a clinical trial for burosumab:

8
Welcome / Rare Disease Day 2018
« Last post by GinJones on January 28, 2018, 10:21:56 PM »
How will you be participating in Rare Disease Day this year? It's just one month away, on February 28. You can help spread awareness of rare diseases generally and your own rare disease in particular by downloading our toolkit at http://xlhnetwork.org/files/8915/1693/3017/rarediseasedaytoolkitfinal.pdf

Or become a Rare Disease Day Champion at https://xlhnetwork.networkforgood.com/projects/45764-rare-disease-day-champions

You can also #shareyourrare at Facebook by adding a Rare Disease Day frame to your Facebook profile here: ow.ly/5jot30hSp3C

9
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:

February 27, 2018: North Haven, CT
     Quinnipiac University Rare Disease Day program (public welcome)

March 2-4 2018: Argentina
     XLH patient advocacy meeting

March 16-18, 2018: Madrid, Spain
     XLH patient advocacy meeting

April 7, 2018: Novato, California
     Ultragenyx Pharmaceutical's Patient Day
     https://digital.lenos.com/keymeetings/ultragenyxpatientday2018/Content/Welcome
     Informal Network get-together the night before, details TBD

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

November 206, 2018 Orlando, Florida
     American Academy of Pediatrics annual conference
10
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.

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