ALD Hope

ممكن يكون سبب عدم قدرة الطفل بالقيام بأي أنشطة وعدم تفوقه الدراسي مشكلة صحية. #aldhope #قصور_كظري #مرض_نادر #طفل

🎨 Calling all budding JUNIOR ARTISTS from the rare disease community 🎨 💫 PLEASE SHARE WITH YOUR RARE FRIENDS AND COLLEAGUES 💫 The March 2025 issue of the EMWA Medical Writing journal will be dedicated to rare diseases. I'm so delighted to have been invited to guest edit this edition, along with my colleague Sarah Milner. BUT....we are both writers and not artists, so we thought that it would be a great idea to invite our junior members of the global rare disease community to design our front cover. The competition is open to all individuals with a rare disease, or their siblings (16 years or younger). The design can be anything to do with rare diseases.   Four designs will be chosen for the front cover. The artist of each chosen design displayed on the front cover will win 100 euros (or equivalent currency). Other designs will be displayed throughout the journal. If we receive more entries than we can fit in the journal, then we plan to display them in an online gallery for everyone to see your efforts.   DEADLINE FOR SUBMISSION: 17 NOVEMBER 2024   Scan your designs and send to: mew@emwa.org AND editor@emwa.org   Format: First name only, age, country, rare disease. TIFF, or JPEG images should be submitted at a minimum input scanning resolution of 300 dpi for full colour, 350–400 dpi for half tones, 800 dpi for simple line art, and 1200 dpi for fine line illustrations.   MPS Society UK, here for those with rare diseases Bob Stevens BDSRA Foundation Batten Disease Support & Research Association (BDSRA) Australia Batten Disease Family Association Rare Diseases South Africa Rare Patient Voice RARE DISEASES INTERNATIONAL Kelly du Plessis Chris Hendriksz Neil Spooner Ineka Whiteman PhD Rare Disease Day EURORDIS-Rare Diseases Europe Nev Ross Riham Badawy Effie Parks MediPaCe PiCC United Williams Syndrome Association Pitt Hopkins UK EHC - European Haemophilia Consortium Duchenne UK CHAMP1 Research Foundation National PKU Alliance Nngwe - One Life Matters #raredisease #competition #artists #medcomms

Simple description of X-linked adrenoleukodystrophy (ALD) and adrenal insufficiency and its types. #aldhope #adrenoleukodystrophy #adrenalinsufficiency #addisonsdisease #raredisease #aldnewbornscreeningsaveslives #savetheboys

قصتنا الي غيرت حياتنا وكانت السبب في إنشاء منظمة ALD Hope #aldhope #مرض_نادر #توعية

Schools should be informed about adrenal insufficiency and trained on how to support students with this condition. It's essential for staff to understand the importance of keeping hydrocortisone medication and injections readily available at school, ensuring they can respond swiftly in case of an adrenal crisis to potentially save the student’s life. Symptoms of an adrenal crisis include: 1. Loss of consciousness. 2. Inability to communicate. 3. Fainting (coma). 4. Persistent vomiting. 5. Ongoing diarrhea. 6. Lethargy with headache or severe abdominal pain. Additional symptoms that may appear during an adrenal crisis: 1. Severe headache. 2. Intense abdominal pain. 3. Extreme fatigue or daytime sleeping. 4. Temporary memory loss for familiar information, such as home address or phone number. 5. Feeling chilly, especially in the hands and feet. 6. Joint and muscle pain. 7. Muscle weakness or difficulty grasping objects. 8. Dizziness or brief blackout when standing. 9. Nausea. #Aldhope #adrenalinsufficiency #addisonsdisease #school #rarediseasekid #awareness #AwarenessMatters #AwarenessSavesLives

لا يوجد ضرر علي متبرع زراعة النخاع صغير السن اذا اثبتت الفحوصات انه خالي من اي مشاكل صحية تعوق التبرع . #aldhope #زراعة_نخاع #متبرع

اهم الأشياء التي يحتاجها مريض القصور الكظري: ١- الاكسسوار الي مكتوب عليه حالة مريض القصور الكظري علشان لو لا قدر الله لو حصله حاجة وهو وسط العامة يعرفوا الي عنده ومحتاج ايه. ٢- ساعة اليد مظبوطة علي موعد الدواء علشان تفكره ياخد الدواء. ٣- حقنة الهيدروكورتيزون. ٤- أقراص زيادة من الهيدروكورتيزون. ٥- اكياس ملح وسوايل. ٦- جواب من الطبيب يشرح حالة المريض وما يحتاجه وقت الطوارئ. #Aldhope #adrenalinsufficiency #addisonsdisease #مرض_أديسون #مرض_القصور_الكظري

There is a clinical trial being conducted in the US called Calyx, A Clinical Study to Assess the Efficacy and Safety of Leriglitazone in Adult Male Subjects With Cerebral Adrenoleukodystrophy. This study is open to patients from any location who meet certain criteria (some of which may be flexible), full details of which can be found here. Key points about the trial: For adult (over 18 years old) males with AMN or ALD. All costs for travelling to the US are covered for participant and one carer. Should a trial site open in your country of residence, participants will be able to move to this trial site. To understand more about the context of this trial you may be interested in this article published in Brain, June 2024. Leriglitazone halts disease progression in adult patients with early cerebral adrenoleukodystrophy. If you or a loved one would like to be considered for this trial please contact your consultant who can refer you. If your consultant is not familiar with the trial they can email info@minoryx.com for further information. You can also email Alex TLC if you’d like to discuss any aspects of this information info@alextlc.org. #Aldhope #alextlc #Adrenoleukodystrophy #adrenomyeloneuropathy

The term leukodystrophy is used for a group of rare genetic diseases that involve the brain and/or spinal cord’s white matter. Currently, there are over 50 different leukodystrophies: 1- Pelizaeus-Merzbacher disease (PMD) 2- Vanishing white matter disease (VWM) 3- Acute flaccid myelitis (AFM) 4- Adrenoleukodystrophy (ALD) 5- Adrenomyeloneuropathy (AMN) 6- Alexander disease 7- Amplified Musculoskeletal Pain Syndrome (AMPS) 8- Angelman syndrome (AS) 9- Ataxia telangiectasia (AT) 10- Metachromatic Leukodystrophy (MLD) 11- Canavan Disease 12- Cerebrotendinous xanthomathosis (CTX) 13- Krabbe disease, also known as globoid cell leukodystrophy (GLD) 14- 18q Syndrome with Deficiency of Myelin Basic Protein 15- AARS 16- AARS2 17- Acute Reversible Leukoencephalopathy and Alpha-Ketoglutarate Accumulation (ARLIAK) 18- Adult-Onset Autosomal Dominant Leukodystrophy (ADLD) 19- Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (ALSP) 20- Adult Polyglucosan Body Disease 21- Aicardi-Goutieres Syndrome 22- Alkaline Ceramidase 3 (ACER3) 23- Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL) 24- Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) 25- Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CARASIL) 26- Cerebroretinal Micro-Angiography with Calcifications and Cysts 27- ClC2-related leukoencephalopathy 28- Coates plus 29- Cockayne syndrome 30- Elongation of Very Long-Chain Fatty Acids-4 (ELOVL4; Pseudo-Sjogren-Larsson) 31- Fatty Acid 2-Hydroxylase Deficiency 32- Fucosidosis 33- Congential Muscular Dystrophy 34- GM1 Gangliosidosis To be continued…. #LeukodystrophyAwarenessMonth #leukodystrophy #adrenoleukodystrophy #حثل_بياض_الدماغ #أمراض_نادرة #توعية_بالأمراض_النادرة #aldhope