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Adult Hypophosphatasia

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Elderberry
Elderberry

Hello is there anyone out there in the UK with adult Hypophosphatasia. If so I would be grateful to hear from you as I am searching for support and answers. Many thanks.

Elderberry.

0 likes, 48 replies

48 Replies

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  • juliana14
    juliana14

    Posted

    Hi, I realise this is getting on for a year now since you posted but I have just spotted it.

    Yes I have hypophosphatasia. Are you still interested?

    Julie14

  • Gardiner
    Gardiner

    Posted

    I have been diagnosed with adult onset hypophosphatasia. I am happy to make contact with anyone else who has the condition.
    • kimcon
      kimcon Gardiner

      Posted

      Have you experienced an bone fractures or an increase of fractures as time goes on? Can you have this and not develop fractures? I'm in the U.S. And I just turned 50. My rheumy was smart enough to find it. I don't have any thyroid issues, just the low ALP. 33 to be exact. I guess I'd like to prepare myself for what's to come it it's inevitable. Thank you in advance for your response. I'm alone out here.
  • juliana14
    juliana14

    Posted

    Hi Gardiner,

    Nice to meet you. Do you mind me asking how did you get a diagnosis of HPP? Do you get fractures or were you picked up another way. Amazes me that anyone gets picked up as an adult as no doctor I have met seems to know very much about it.

    I'm in UK, presuming that you are.

  • petal4
    petal4

    Posted

    Hi, I'm also in the UK, I was diagnosed with Familial Hypophosphatasia last month. I had lots of blood tests and did a 24 hour urine analysis which is how my condition was detected. I went to the doctor complaining of extreme fatigue and lots of other "non specific" symptoms (this went on for 13 years) and at the last instance I'd had enough and begged to be referred to see a specialist, I got my wish and my diagnosis. I have been bombarded with a lot of Vitamin D to take to see if some of the symptoms can be alleviated but he made it clear the condition is incurable. I have to go back to see him in January and have to have more blood tests and another urine analysis a week before my appointment. I'm also Hypothyroid which was diagnosed 13 years ago. Has anyone else suffered from extreme fatigue as a result of this condition? I can't help but think there is some other underlying condition and that the HPP was found by accident.
    • kimcon
      kimcon petal4

      Posted

      Hi! How have you been experiencing your HPP? I am in the U.S. and just got diagnosed. I was referred to an orthopedic surgeon who is taking an interest in this disorder (especially adult onset HPP which is what I have. I was told to definitely not take Vitamin D. And also the literature my rheumy sent me about the disorder made it clear that those with this condition should NOT take vitamin D or Calcium. I am 50 years old and a woman and my fatigue has been terrible. And I have pain and fatigue, how have you been faring since your last post? Since tha is progressive can I expect fractures in the future? There's a Dr Mike Whyte in the U.S. That is an expert in this disease. I'd appreciate a reply because I have lots of questions. Thank you
    • kimcon
      kimcon petal4

      Posted

      I was specifically told to not take vitamin D suppplements. In the Alexion brochure on HPP It cautions us on taking vitamin D and calcium.

      How are you holding up?

    • kimcon
      kimcon petal4

      Posted

      I'm not a doctor, I would google a drug company called Alexion and HPP. In the literature I was given from my rheumatologist, it specifically said to stay away from vitamin D and Calcium Supplements. It's one of the rare conditions where you want avoid those two minerals. I'd research it yourself, but I met with a geneticist at UCLA medical center and she confirmed what I read. They just approved a drug to treat HPP in the U.S. In October 2015. Do the British google or do you have another more popular search engine?
    • edna2016
      edna2016 petal4

      Posted

      Hi Petal4, I too am Hypothyroid (for 30yrs) and suffer from fatique. Only since 1 year ago, I had my ALP checked, which was 26. With all of my symptom complaints, I was told it was nothing. Another year passes and doctor (these are different walk in clinic doctors) sends me in for my routine TSH check and decides to do LFT's. Again, many symptoms still happening...getting much worse, and now my ALP level is 25. These feelings of joint pain, bone pain and all over "bruised body pain" when you touch me, had started 16 years ago. Arms hurt so much I can barely raise them (I weigh 125lbs), my knees give out when I walk, my hips feel dislocated, my shoulders and scapula crack and feel broken...these issues get worse and worse every year. I'm in so much pain and I feel forgotten as a patient and person. I am in Canada...but what type of doctor do I need to see and what do I do? 
    • susanc95
      susanc95 edna2016

      Posted

      Hi edna2016, I am 54 and was diagnosed with HPP only after we found out one of my sons had it when he began losing teeth at 17 months old. There is a fairly new HPP support group in Canada on FaceBook. It is called Soft Bones Canada Hypophosphatasia. There is also another FaceBook group that you can join called Soft Bones: U.S. Hypophosphatasia Foundation. They can send you a lot of information on HPP and both groups can be a huge support to you! As far as what type of doctor, it can vary, but typically it is either a geneticist or endocrinologist. The U.S. HPP group actually has a list of providers who are familar with HPP. I'm not sure about the Canada group. A lot of people have been working for many years to try to spread awareness within the medical community, but it has been slow going because HPP is a rare disease. There is help out there, so don't give up! Reach out to the FaceBook groups. That's your best starting point.

    • beczy
      beczy edna2016

      Posted

      Hi Edna2016, sorry for joining in on your conversation so late but I just want to let you know I know exactly how you feel! You are not alone smile

      I was diagnosed by a specialist (in australia) of HPP when I was 25 years old, when my ALP was suspiously low, it was a reading of 5. 3 years later and it is still at the same level. Of couse at that age I was more interested in going out and being active so I didn't really look too much into it as the specialist said that there was nothing I could do about it. I've always felt I had extreme fatigue my whole life, even as a child. As well as always having dental problems but thought that was due to the amount of sugar I consumed as a child haha. So just living my life as usual, I went mountain bike riding and I had an accident where I factured by elbow, it shattered into 8 pieces and the surgeon said it was the worst fracture he had seen in someone my age ever (It is ok now though). I also had orthodontic work done and it has totally destroyed all the bone in my gums and now teeth are slowly starting to fall out one by one sad they are all very loose. One year I sprained my ankle just by landing on it funnily. I also started playing football but had to stop because I was in so much pain after every game, my hips were twisted (my scoliosis doesn't help either) and I felt like I pulled my leg out of my hip socket! Ever since then I have been experiencing joint pain in my knees, legs and body in general even after I just wake up. And everything cracks for me too, like every bone is grinding on each other :S I do take responsibility of aggrevating most of my joint pains with playing sports and being active but that's what I enjoyed and I never put 2 and 2 together until now. I will be seeing my specialist next month to talk about the future. Being in Australia we probably won't even be able to get a treatment in many years to come. This is the worst that it has been and I hope that it improves with the warmer weather. My joints hurt alot more in the winter cold, it feels as if my bones just lock up. I hope you have made some progression in your journey to finding out more about your condition and how to manage your pain.

    • michael24940
      michael24940 beczy

      Posted

      Hi Beczy,

      I just found this forum after being diagnosed with HPP over this past week. How have you been since you last posted??  I am in my 20's as well (turning 28 next week) and am relieved to finally have an answer, as this has been a ten your journey. However, I know it's a pretty scary answer. It has already attacked my feet (four foot surgeries in the last 7 years) and my hips (had a scheduled hip surgery next month that is now To Be Determined).  

      At what age did your teeth start falling out??  Mine have felt weird over the last couple months and I even started mentioning it to my mom prior to the HPP diagnosis. I think I already know which one will fall first!  

      Best,

      Mike 

    • beczy
      beczy michael24940

      Posted

      Hi Mike, I'm sorry to hear about everything you've been going through. I can imagine all the different possibilities you would've had over the 10 years, thinking that it was all seperate problems, one after the other, very frustrating! Since my post, I have undergone more tests to confirm HPP as well. My knee joint pain has still not gone away and I think it is something I have learnt to live with, can't imagine it going away. May I ask if your foot surgeries were a result of playing sports or just everyday walking? I like being active and it does hurt standing up for a long period of time, but I also find it helps being active in the long run...as it's like exercising the joints and not letting them stiffen? If that makes sense...It's kind of a double edged sword sad

      I was told I have an adult onset of HPP and only now symptoms are showing, to be exact when I turned 28 (sorry, not to scare you!) Even though my reading is really low, 5, I have been told that it isn't an indication of severity of symptoms. It was about 2 months after I got my braces taken off that the first tooth fell out, I had just turned 28. Though the braces ruined the stability of my teeth and probably was helping them hold in! Yeh it's not a nice feeling eating with wobbly teeth and gaps sad My peridontist tried to save it, far too gone though, but they had never heard of HPP before.

      I found the HPP groups on facebook very helpful if you have questions about it. Especially if you live in the US, I know there is some annual meetups I think. There is also and Aus/NZ page. I was freaking out a bit at the start as I didn't know what the next step was and with the lack of knowledge of the professionals/solutions. It was comforting to know there are others just like us, going through the same thing around the world, silently braving the world in pain hehe.

      Cheers,

      Bec

    • michael24940
      michael24940 beczy

      Posted

      Hi Bec!  

      Very happy to see your response and to hear from someone who can relate.  

      I played basketball and baseball growing up, and continued to play pick-up basketball until my feet finally no longer made it at all possible to play a few years ago. I've also lived in New York City at two seperate periods (once for grad school, then back a few years later for work) and as you'd imagine, getting around the concrete jungle was not the best thing for my feet, and then ultimately my hips. So lifestyle I feel definitely sped up my HPP-related joint deterioation, which makes it unfortunate that it was not diagnosed until now. But I can only now look forward!  I've been back in Michigan since August living with my parents, and couldn't ask for better care. 

      There are three teeth that I think will definitely be sliding out in the next year or so. The teeth symptoms, like some other symptoms in my body, are not "new" since the diagnosis last week, but they're all symptoms I was trying to ignore in the hope that they'd go away. Now I know they are for real and must be taken seriously. 

      I actually deleted my facebook during grad school and have not had one since, but may get back on as I think that's definitely a good idea to connect with others on there who are experiencing this.  As for your reading of 5, is that for bone-specific alk phos? My serum (blood) ALP is 17, and bone-specific is 4.4, I'm curious how it's measured in Aus/NZ?    

      I know exactly what you mean with the double edged sword, finding a perfect balance between moving enough to not be stiff and in pain but also not moving too much to where joints feel worn down and painful. Also "Silently braving the world in pain" is perfect, the biggest upside to this diagnosis is realizing how brave I've been all these years to get as far as I have without medical help, and now I'll get help smile  

      Best,

      Mike 

      Emis Moderator comment: I have removed the email address as we do not publish these in the forums. If users wish to exchange contact details please use the Private Message service.

      http://patient.uservoice.com/knowledgebase/articles/398331-private-messages

    • donna78218
      donna78218 kimcon

      Posted

      Hi,did you see Dr.Debbra Crockhow who is pediatric Genetic Dr. but sees adult HPP?my 28 year old daughter is going to UCLA in April to see her. She has chronically low alp and I asked Dr to test her b6.They tested toxic levels 2 times in thi month. One was 1514 and then 1117. Any info would be so appreciated. Thank you.
    • lisa14551
      lisa14551 michael24940

      Posted

      There is a Facebook page for people with HPP.  You must request to join.  Look up softbones or hypophosphatasia  foundation.  

      It’s been amazing for me. They have regional meetings and discuss all kinds of helpful info.  Very supportive.  Reach out. 

    • lisa14551
      lisa14551 donna78218

      Posted

      There is a Facebook page for people with HPP.  You must request to join.  Look up softbones or hypophosphatasia  foundation.  

      It’s been amazing for me. They have regional meetings and discuss all kinds of helpful info.  Very supportive.  Reach out. 

    • lisa14551
      lisa14551

      Posted

      I do have HPP and so does my son Btw.  So I can relate. 
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