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  • Melanie Williams

Good News: Managed Access Agreement UK (NICE) Asfotase Alfa Strensiq

Updated: Oct 6, 2019


😀😀😀😀😀😀😀😀 I want to share some good news with you all. At age 60 and one day I have been approved for 'Strensig'. I have had symptoms since birth but only received my diagnosis at 51, after years of collecting evidence myself. It has taken over a year of waiting to hear this news. For those of you in the UK I thought I would let you know I wrote a letter in support of my application. My Metabolic Specialist Jennifer Walsh (Great Northern Hospital in Sheffield) applied through the ‘Managed Access Agreement’. She carried out all the genetic tests, collated evidence including proof that I had visited the pain clinic, a pain detect form and genetic testing. I had been told that I would have to go in front of a panel but my letter was so compelling they approved it without this step. I attach my letter in the hope that it will help other adults and young people in this situation. I visit the hospital on the 28th August (next week) to see where we go from here. I will keep you all posted.

Living with Hypophosphatasia - HPP I should be extremely grateful if you would spend time to read my letter. I am sorry it is long but this is my medical history and I hope it will give you evidence of the suffering involved with HPP. Medical History: As a baby I wasn’t able to sit up without propping. The hospital put me into traction and used Physiotherapy to improve my strength. As a toddler I had problems with pain in my feet and knees which caused difficulty walking. I was given exercises to strengthen and help improve my arches. Throughout childhood I had aches and pains in my joints and would complain and cry with the pain. My knees and feet were especially painful. I was unable to take part in sports and physical activity because of pain. I was very asthmatic until the age of seven. During my years at school I many a time asked for time out in lessons to go and lie down in the sick room or had to lie on the floor between lessons I found it extremely painful sitting all day on hard chairs. At 13 I had terrible back ache and had difficulty walking with severe pain in my legs. X-rays were taken and the hospital was concerned in case I had cancer as there were shadows showing on the pictures. Exploratory surgery took place on my spine they didn't discover anything. This was extremely traumatic and the pain continued to get worse. At around 21 I began to feel terribly stiff in the mornings and would have pain in my joints which would be extremely severe at times. I went to the GP and was prescribed an anti-inflammatory drug (Oruvail). Over the decades I have seen podiatrists, rheumatologists and orthopaedics and during this time I tried to carry on with life as well as I could. I've always wanted to work and had to change my career multiple times in order to be able to carry on due to the pain. I followed various self management courses and followed every avenue for self help including the Alexander technique, acupuncture and Osteopaths. Over the years the pain has got progressively worse and I have been battling and seeing as many specialists as possible to try and get a diagnosis as I felt that I had some sort of systemic problem. In 2007 my GP found I had low a low alkaline phosphate enzyme reading. My GP wrote to various specialists but none picked up the baton until September 2011 when Dr. Davie (Metabolic Bone Specialist in The Robert Jones and Agnes Hunt Orthopaedic Hospital in Oswestry - now retired) became interested in my case. In 2011 I had bone scans and x-rays which showed calcification in tendons in shoulders and hips. I tried the latest e-SWT treatment on my shoulders but there was no improvement. In January 2012 the pain in my shoulders was so severe my mum paid for me to have a private operation on my right shoulder and elbow. I had an arthroscopy and nerve release in my elbow in one operation. After 3 months I began to feel some improvement but then the pain returned with vengeance. Dr. Davie did various tests and on 9th August 2012 he wrote to me with a diagnosis of Hypophosphatasia which is causing Chrondocalcinosis. I have had an operation on my left shoulder for the same problem. I have also have the same pains in my hips and x-rays show calcification. In August 2017 I had a right total shoulder replacement because of the excruciating pain (the cartilage had completely worn away). I am now 59 years of age. I awake in pain and often can’t sleep during the night because of the pain. My whole day is dominated by pain throughout my body but especially in my shoulders, elbows, feet, heels, ankles, wrists and hips. I am extremely concerned about the future as my life is now so restricted because of the pain. Simple tasks are debilitating. Over the past 7 years I’ve had countless cortisone injections in my hips and shoulders. I am very stiff all the time and have pain when moving. Repetitive movements with my arms are impossible. When waking in the morning I am extremely stiff and have trouble moving initially because of the pain. When immobile even for short periods I feel as if I am seizing up and have difficulty moving. I am finding it more and more difficult to cope and really need help to control the pain. My husband is my carer. On many days he needs to help me get dressed and undressed. Help me out of chairs. Open doors for me. Cut my food. Make my meals. The list goes on. There is constant pain throughout my body but on top of that there are bouts of extremely severe pains which shoot and gnaw. These pains can move about the body and they will take your breath away. On top of this there are the pains caused by calcium deposits in my tendons and joints which in turn causes severe nerve pain. There is also a constant battle to see specialists when new pains appear in different parts of your body. It can take months before you see a specialist that can give their opinion on the intervention that can help. You then have to wait again for that treatment in the meantime you are in debilitating pain. I often feel restricted and helpless and sometimes can only sit with heat pads until the pain eases a little. I have a variety of pain killers prescribed i.e, meloxicam 15mg, omeparazole 10mg, escitalopram 10mg, co-dydramol 10/500, co-codamol 30/500. These take the edge off the pain but never ever give me "time off" from pain.

#HPP #Hypophosphatasia #AsfotaseAlfa #strensiq #strensig #Managedaccessagreement #softbonesuk #softbones




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