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The Rare Disease Struggle - a mother at home with her high-needs boys

  • Update June 2025

      6 June 2025

    The last few months have been a pretty challenging. In mid December Mr 16 started a trial of a drug that might have helped his condition. Unfortunately he had a nasty reaction to the medication, with his face swelling badly and coming out in pustules, so we had to miss Christmas with family, and I took him to ED early in the New Year. He had to stop the drug and have antibiotics to treat the infected skin. His seizure medication was also causing lack of appetite, and making him very tired, so he has stopped taking it, and we hope no seizures will occur as a result, so that he will be able to start learning to drive. He is slowly working on some Te Kura learning, but fatigue is a real hurdle for him.

    Mr 19 restarted University study, and I drove him in and picked him up each day, and worked hard to help him stay on top of assessments. However, he became very depressed. The doctor tried prescribing two different antidepressants to the one he was already on, but the first made him extremely groggy, and he had a nasty allergic reaction to the second one, coming out in hives all over his body. He has had to pull out of study for now.

    The goal for the next few months is to get both boys learning to drive, and to get them out of the house a bit more.

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  • Progress update from *Emma

      27 October 2024

    I am so very grateful for the generous donations. Although I am very uncomfortable receiving them, they are making a real difference. My eldest seems to be benefiting from the counselling. He has been meeting up with friends and joining the board games nights I host. He also really stepped up to help care for a friend’s children when she was in hospital. He is planning to go back to University next year. I am using some of the donations to pay for driving lessons for him, which will improve his confidence and independence.

    My youngest has started doing some Te Kura work, which I'm supporting him with. I have bought him an apple watch to monitor heart rate and detect seizures. I will be pairing it with a refurbished iphone.

    I took him to a physiotherapist and an exercise physiologist to get a picture of where his physical fitness is and plan an exercise programme. His strength was on the lower level of normal for his age and weight (he’s 179cm and 53kg). His lung capacity was at the lowest edge of normal, as expected due to fluid in his lungs. His vO2 max was on the 3rd percentile, meaning he’s not using oxygen well and everyday activity leaves him exhausted. The recommendation was that exercise would be detrimental, and that we need to start with pre-exercise therapies such as red light therapy, hypoxic breathing and infra-red sauna. I'm looking at the cheapest options to access the red light on front and back of his body daily. A desktop red light panel is a possibility.

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  • Update from “Emma”

      20 September 2024

    I am so very grateful for the generous donations. Although I am very uncomfortable receiving them, they will enable me to improve outcomes for the boys in ways that would not otherwise be possible. This is how they are being used so far.

    I am selecting a watch that will monitor heart rate and possibly detect seizures in my younger son. This will give me a better picture of his fitness and potentially detect any heart issues caused by the pericardial effusion. I am also hoping that gathering some data might help motivate him to do more activity. He has only left the house on three occasions in the last few months, to attend appointments.

    I have been in touch with a physiotherapist, and will be taking him for an initial session to get some advice on supporting him to exercise safely and get stronger, and hopefully reduce the oedema that makes him so self-conscious around other people. He has also just been enrolled at Te Kura, and I will be supporting him as he does his NCEA level 1 studies online for the time being.

    My eldest has started his 6 free counselling sessions through Tū Ora. After his referral on 1st May, it seems he became lost in the system until I chased it up, as he was potentially suicidal, and therefore only meant to wait 4-8 weeks for an appointment. If he needs a few more sessions after these I will have to find another provider and pay for them.

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