Being the rarest day of the year, today is also #RareDiseaseDay
My son Miles has Hypophosphatasia (HPP) which is a rare genetic disease that leads to under mineralized bones, respiratory compromise, tooth loss, and seizures.
From an extended NICU stay, a trach, numerous surgeries, broken bones 🦴 , over 1000 💉 and more 🧑⚕️ appointments than I can count, it has been an incredible journey.
So in celebration of him and everything that makes him rare, Happy Rare Disease Day!
NEW: Just one faulty gene on chromosome 15 leads to Angelman syndrome, characterized by a happy demeanor and developmental disabilities. A cure is coming, but identifying patients in Hong Kong aand ensuring they can access treatments is hard.
For #RareDiseaseDay, I have PKU which means I can't have too much protein as my body can't break it down, and if I try to have too much, it will cause me brain damage.
The NSPKU has done wonders in helping me with my diet, and the PKU community (from all over social media places) has been awesome!
The PKU diet is a tough diet to get through, but the comradarie of my PKU friends makes it that much more better. For all the ills of social media, I don't know where I would be without my PKU buds!
En ce 29 février 2024, on célèbre la #Journéedesmaladiesrares. 😁
Comme j'ai une maladie rare appelée phénylcétonurie (PCU, PKU en anglais), je ne peux manger que 10g de protéines naturelles au maximum (moins, c'est encore mieux) car mon corps ne peut traiter un acide aminé spécifique, la phénylalanine.
A condition is defined as rare if only 1 in 2000 people (or less) have it.
My son has a condition that occurs in less than 1 in 1000000 people, and that's why I'm writing this post.
So, rare conditions are rare - but there are so many of them, and millions of people worldwide are affected by one.
Why is it so important to raise awareness for rare conditions?
Because it can be very hard to get proper treatment, and also to get a correct diagnose in the first place.
Doctors learned that "common things are common, rare things are rare", and some of them will even dismiss the possibility of a rare condition, not take necessary actions and not refer you to a specialist - that happened to us at first! We were still lucky, got support from a selfhelp association (in our case the German association of little people and their families - BKMF) and got a diagnosis after only 1 year.
In der aktuellen Sendung mit der Maus geht es übrigens um ein Mädchen mit einer seltenen Krankheit.
Toll finde ich, dass sie ein Kind zeigen, das auf eine Regelschule geht - gerade weil das leider immer noch nicht selbstverständlich ist - und das einen Rollstuhl nutzt, aber ihn nicht immer braucht.
Würde solche Beiträge gerne öfter in deutschen Medien sehen!
#RareDiseaseDay: Ca. 4 Mio. Menschen in 🇩🇪 leiden an einer #SeltenenErkrankung. Eine davon ist #Mukoviszidose. Im Tagesspiegel spricht Dr. Simon Gräber #CharitéBerlin über aktuelle Therapien & erklärt, warum ein frühes Testen und Behandeln wichtig ist. (€)
Today is Rare Disease Day. I have a disease that is not particularly rare, but is considered so because it's underdiagnosed, misunderstood and some of the types are extremely rare.
If there were more funding for research and more training for doctors, perhaps we wouldn't be considered rare any more. 🦓
Rare Disease Day was created in 2008 and is is a global movement to advocate for equity in diagnosis, therapies, treatment, healthcare, and social opportunity for people living with rare diseases. Throughout this month, the Servant of All Team will be sharing stories of members in our community and others who are impacted by rare diseases. Visit https://buff.ly/495yoAZ to join the discussion