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  • #177292
    Reply To: Preimplantation Genetic Diagnosis

    Hi Genevieve,

    I asked my neurologist about this and he explained the process to me. The first thing you can do is ask your GP to refer you to a genetic clinic. I don’t remember the specific name or the type of clinics. There are 8 in the country, depending on where you live. I know there is one in Cambridge, and one in London.

    He confirmed to me that our disease is covered by the NHS for PGD and IVF. He says the whole process takes about 1 year, so it’s a good idea to get started early. When I come back from my summer holidays I will go to my GP and begin the process.

    Here are a few links you can check: https://www.nhs.uk/conditions/ivf/ talks about IVF and getting started with it. https://www.hfea.gov.uk/treatments/embryo-testing-and-treatments-for-disease/approved-pgd-and-ptt-conditions/ is the regulator and talks about which conditions are approved for PGD.

    Ana Filipa

    AnaFL AnaFL
    Participant
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    Joined: 08/11/2018
    #177291
    Reply To: DM1 person saying hello

    Hi Genevieve! :wave:

    I’m happy that you answered me. I went to the neurologist last Thursday and I am very happy with him. He will make a report to my GP to ask her to send me to an NHS genetic clinic for IVF (because I want to have children) and also ask her to do a referral for the national hospital for neurology & neurosurgery, so he can accompany me there.

    I moved to England about a year ago and this is my first appointment with a neurologist here. Before my appointment, I wrote down all my symptoms, my family history (my dad had the same disease), and several questions to ask. I find that having the questions written down helps me make sure that I don’t forget to ask anything important. You might want to do something similar for your appointment.

    I’m very happy because the neurologist said that my disease is a mild form. It won’t get better of course, but he thinks it won’t get much worse.

    I asked him to refer me to several specialists: cardiologist, pulmonologist, ophthalmologist and physiotherapy, to which he agreed. I already did my cardiologist exams: an echocardiogram, an ECG and a 24h Holter ECG. Now I need to schedule the appointments and clear it with the medical insurance.

    You probably have a lot of doubts about this disease. I ordered a book that helped me so much to understand my symptoms and what can happen. It’s free from the Myotonic Dystrophy Foundation in the USA. You can order it from their website: https://www.myotonic.org/get-mdf-toolkit (they also have more resources at https://www.myotonic.org/resources/toolkits-guidelines). This toolkit has one large book with many medical details and another smaller book with some summarized facts. It also has a medical alert card.

    I have this alert card from the US MDF and another one with more details that I ordered from the Muscular Dystrophy UK association. I also bought a SOS bracelet, you can find these in jewellery stores. They also make versions in necklaces. If you prefer to order, here is a link: https://www.fhinds.co.uk/jewellery/jewellery-by-brand/sos-talisman

    The bracelet I bought has a problem. I can’t put it on by myself because the clasp is small and I don’t have enough dexterity and strength to use it. Fortunately my husband puts it on me when I ask him.

    All my friends know that I have this disease and I have no problems talking about it, because as much as I can remember I always had symptoms, so it’s normal for me. I don’t know much about the logistics and paperwork here in the UK, but if you have any questions about living with the disease please let me know!

    Ana Filipa

    AnaFL AnaFL
    Participant
    Posts: 0
    Joined: 08/11/2018
    #177290
    Reply To: DM1 person saying hello

    Hi Mike! :wave:

    Thank you for your quick answer and the nice welcome. My appointment with the neurologist was good and he referred me to several specialists. I also did some exams for my heart.

    I’m glad that other people with my disease have answered me.

    Ana Filipa

    AnaFL AnaFL
    Participant
    Posts: 0
    Joined: 08/11/2018
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