Uploads from rarediseaseday, tagged rarediseaseday

Ewan Griffioen - Pompe's disease

nobody@flickr.com (rarediseaseday) — Wed, 27 Feb 2013 01:57:48 -0800

Ewan was diagnosed with Pompe's disease in October 2012. He is a brave little man and a lot of people are looking forward to seeing him walk very soon!

Joining hands - Czech Interdisciplinary WG for RD

nobody@flickr.com (rarediseaseday) — Wed, 27 Feb 2013 01:29:42 -0800

rarediseaseday posted a photo:

Members of the Czech Interdisciplinary Working Group for Rare Diseases at the Ministry of Health of the Czech Republic join hands to express solidarity with the RDD 2013

ichthyosis

nobody@flickr.com (rarediseaseday) — Wed, 27 Feb 2013 00:25:25 -0800

rarediseaseday posted a photo:

Esther K., - Nairobi, Kenya, East Africa -

My Story: Living with Ichthyosis
Esther K.
My name is Esther and I come from Nairobi, Kenya, East Africa. I am 31 years old, and a committed Christian. I have Epidermolytic Hyperkeratosis (Bullous Congenital Ichthyosiform Erythroderma). I developed the condition when I was a few months old. Neither my parents nor the doctors understood what was wrong with me. My parents and siblings do not have my condition.

We guess that the ichthyosis came from a spontaneous mutation of a gene. As I grew older my condition continued, and I continued to be taken to different hospitals and to see different doctors. It was a very painful experience for me in my childhood and especially for my parents, who could not understand what this condition was. They tried all they could to provide me with the best treatments. Blisters would appear on my whole body and it was very painful. It also was painful for my family to watch me go through the trauma and pain of this condition. I would be admitted in the hospital for months. I could not do anything for myself. I had to be bathed and fed and I missed a lot of school. I was absent for weeks in the first few years of my childhood. I did not understand what was happening to me and was confused.

The cold days were extremely hard for my condition. At that time, blisters would erupt. I had the most painful blisters and would be house-bound. The hot seasons were also unbearable and would make me very itchy. I would itch until my skin would peel off. I just needed someone or something to help me to stop the itch until my teenage years. Those were the especially hard times for me. In high school, I would also miss classes because of the painful blisters, but my condition was starting to get adaptable. All this time the doctors would not diagnose my condition.

Many said the condition would disappear as I grew up, but many did not have the right diagnosis. They thought it was a general skin condition. They prescribed lotions and creams, which did not really work nor improve my condition. I also tried herbal medication, Chinese medication, homeopathy medication, but none seemed to work.

After high school, when I went to college, I met a person who sponsored me to go to Scotland for medical attention in 1996. That's when I met a dermatologist who did a biopsy on my arm and gave my condition a name. That's when I knew the name as epidermolytic hyperkeratosis.* He told me it was a genetic condition and there was no cure and they are still doing the research for the cure.

I suffered from depression in my high school years and stress in my college years. I always had low self esteem, but in time I have become a confident woman. Now I am happy, intelligent. sociable, and I enjoy life to the fullest.

I came back home in 1998. It was extremely hard for me and my family when I was told that the condition was genetic, because we had a lot of expectations for a cure.

In time, I had gotten used to my condition, and now it has gotten a bit better because I don't itch or have blisters anymore. I survive on Vaseline® and lotion to hydrate my skin. I am not on any medication; I stopped taking medication a long time ago. My Christian faith has been my anchor because the Lord gives me the strength when I feel down.

My friends and family are all very supportive and I have never felt discriminated. I occasionally meet people who give me the stares, but I understand because they are not informed of my different looking skin. Whenever possible, I try to explain to them about my condition. Many are relieved and happy to know that it is normal and not contagious.

I decided to learn more about my condition. Here in Kenya not many dermatologists know about ichthyosis or have met patients with ichthyosis. Very few know about it so there is virtually no place here where affected patients can get help. That's when I realized I had to do something. I got interested in knowing more about ichthyosis, and I started visiting different websites about skin conditions.

I learned about FIRST and I had to say it was an eye opener for me because they had a lot of help for patients like me. Since I had never met any other patient with my condition in Kenya, I thought it would be a good idea if I started a support group here. That's when I wrote an email asking for help, and I was surprised to receive a very kind email from Moureen Wenik. She is a very helpful and a kind lady. She encouraged me a lot. She started sending me posters and brochures, which were very helpful to read and to know actually there are other people like me suffering from my condition from different countries.

I really felt at home at FIRST; I was in the dark most of my life, and my parents too, about my condition. But since I started communicating with FIRST and received the materials that were sent to me. I now have all the facts at my fingertips and I understand myself better. FIRST helped me to cope and feel loved and know that I share the same feelings with other sufferers. That's why I want to support and create awareness about ichthyosis in Kenya so that we can sit and share our innermost feelings. I am single, but I still believe God will bring me a man who will love and cherish me with my condition so I live my life to the fullest.

FIRST has really made me smile again and given me a spirit of helping others. Thank you FIRST. I appreciate you for your dedication and commitment to help all affected by ichthyosis and look forward to attending the family conference one day.

God Bless,
Esther k

Believe

nobody@flickr.com (rarediseaseday) — Tue, 26 Feb 2013 21:44:21 -0800

rarediseaseday posted a photo:

Mastocytosis, Mass Cell Mediated Disease, Diabetes, and Neurocardiogenic Syncope

For Spenny. Love & Hugs, Grandma

nobody@flickr.com (rarediseaseday) — Tue, 26 Feb 2013 20:35:36 -0800

rarediseaseday posted a photo:

For Spencer: Together with you, your doctors, family and friends we can help bring awareness, treatment and a cure for EoE.

Lots of love,

Grandma Jan

Pemphigus Vulgaris

nobody@flickr.com (rarediseaseday) — Tue, 26 Feb 2013 19:06:27 -0800

rarediseaseday posted a photo:

I've been battling Pemphigus vulgaris for two years this summer. Pemphigus is a rare autoimmune disease that occurs when the body's immune system attacks healthy cells. I have the most common type, it starts with mouth blisters and can eventually spread to other parts of my body. Without the right treatments it could be fatal, there is no cure. I developed it at the age of 15. I'm 17 now and have yet to find the right treatment to demolish it. Over the course; eating many foods is limited and brushing and flossing comes with a lot of blood. I've finally find the right doctors to get me on the right medication, and i'm currently waiting to be Pemphigus free! Every day is a struggling battle, but with the grace of God i know i will be healed.

Isaac and his MeMaw

nobody@flickr.com (rarediseaseday) — Tue, 26 Feb 2013 18:44:38 -0800

rarediseaseday posted a photo:

The cute fellow in the picture with his MeMaw has Glycogen Storage Disease type 9 as well as being a carrier of type 1A. We in Nitro, West Virginia want to continue to raise awareness to Glycogen Storage Disease, a rare live disease.

Mackenzie's Hope

nobody@flickr.com (rarediseaseday) — Tue, 26 Feb 2013 18:20:40 -0800

rarediseaseday posted a photo:

On May 16, 2012 our four year old daughter Mackenzie was diagnosed with Late Infantile Batten Disease. This rare disease progresses rapidly and typically ends in death between the ages of 8 and 12 years old. To learn more please visit our family's website at www.mackenzieshope.com
"Giving up is not an option".

Evan Broome

nobody@flickr.com (rarediseaseday) — Tue, 26 Feb 2013 16:58:01 -0800

rarediseaseday posted a photo:

I'm 23 years old with PCD, Kartagenere Syndrome and Total Situs Inversus.

Wicked handsome Brian D

nobody@flickr.com (rarediseaseday) — Tue, 26 Feb 2013 15:31:30 -0800

rarediseaseday posted a photo:

hi, I just thought I would add this photo of me Brian Donovan 39 years old from near Boston Massachusetts, I really love art of all mediums, special fx, toys, oldschool cartoons I'm kind of a nerd that way. oh yea and I ha Friedreich"s Ataxia.

Living with Addison's

nobody@flickr.com (rarediseaseday) — Tue, 26 Feb 2013 12:15:56 -0800

rarediseaseday posted a photo:

Hi, I'm Jordan, and I have primary autoimmune adrenal insufficiency, or Addison's Disease. For whatever reason, my immune system attacked my adrenal glands and destroyed them. The adrenal glands are very important for everyday functioning of your body for life. I have to take replacement medication for the rest of my life for it. At first it was hard because it took a long time to find out what was wrong with me, but I'm coming back strong! I still have bad days and I have to carry emergency injections with me wherever I go, but I am determined that it will never keep me down for long!

Noah

nobody@flickr.com (rarediseaseday) — Tue, 26 Feb 2013 10:51:00 -0800

rarediseaseday posted a photo:

This is my twin son Noah. He suffers from PVNH of the brain. He has epilepsy, bronchiectasis, bronchomalacia, mitral, tricuspid & aortic valve regurgitation, he's hyper mobile, suffers from constipation & dysmotility of the bowel effecting his colonel name a few. He is also peg fed due to failure to thrive. We are currently still waiting on DNA results to see if he has a syndrome causing all these problems.

Brooke

nobody@flickr.com (rarediseaseday) — Tue, 26 Feb 2013 10:58:44 -0800

rarediseaseday posted a photo:

This is my daughter Brooke - she is the light of my life. She has not one, but three rare diseases. At age two she was diagnosed with SCAD Fatty Acid Oxidation Disorder. At age five she was diagnosed with Eosinophilic Esophagitis and Gastroenteritis, and age six, she was diagnosed with Thryroid Hormone Resistance. She is so amazing and truly a gift from God. I love her with all my heart. She has taught me so much in her 11 years of life so far - and I can't wait to see what she will teach me in the future.

il mio complleanno

nobody@flickr.com (rarediseaseday) — Tue, 26 Feb 2013 09:27:10 -0800

rarediseaseday posted a photo:

Quello che mi ricordo e questo ero piccolo quando andavo in ospedale
non volevo mi nascondevo sotto il letto piangevo avevo rabbia mi
convincevano i miei quando ero vicino all'ospedale mi nascondevo
sotto il sedile della macchina quanto ho pianto perchè era un
continuo farmi esami però mi ricordo che abbiamo fatto un carnevale
io ero vestito di caboi mi chiamavano S. Marco tutto quello che mi
anno fatto ai tempi io ero il primo a studiare su questo caso. Anche i
medici mi volevano tanto bene mi ricordo anche quando mi anno fatto
la mipsia della pelle non mi potevo muovere la mamma era sempre vicino
a me papà lavoro curava mio fratello Dario quando mi hanno tolto
punti quanto piangere dolore mi ricordo che mamma eil papà mi facevano
sempre dei regali e mi coccolavano avevo 3 o 4 anni

Malachi was born with Primary Ciliary Dyskinesia (PCD)

nobody@flickr.com (rarediseaseday) — Tue, 26 Feb 2013 09:06:25 -0800

rarediseaseday posted a photo:

PCD causes recurrent ear and chest infections, often leading to permanent lung damage.

Funding from children's charity Action Medical Research is supporting Dr Hannah Mitchison, of University College London, in her hunt for genetic changes that cause primary ciliary dyskinesia (PCD). Dr Mitchison hopes to enable earlier diagnosis, so these children can get treatment sooner. www.action.org.uk

www.pcdsupport.org.uk

Raising Awareness: Ehlers-Danlos Syndrome!

nobody@flickr.com (rarediseaseday) — Tue, 26 Feb 2013 07:59:25 -0800

rarediseaseday posted a photo:

This picture was taken right after my graduation in December. It took a while, but I stuck it out after years of battling a connective tissue disorder called Ehlers-Danlos Syndrome, which was previously thought to be a rare genetic disorder, but doctors and researchers are coming to realize it is much more common than initially thought! There is no cure for EDS, and very few doctors are trained to identify and deal with this type of disorder, and so raising awareness is key for those of us suffering with it on a daily basis.

A variety of gene mutations cause problems with collagen, the material that provides strength and structure to skin, bone, blood vessels, and internal organs... It is basically the "glue" that holds the body together! Without collagen, none of the body's systems are able to function correctly, causing a multitude of internal problems. To make it worse, EDS is one of many "invisible illnesses" where sufferers look perfectly healthy on the outside, even though they suffer from chronic pain and recurrent health problems. This can be a serious obstacle to obtaining adequate support in the collegiate environment!

Needless to say, sticking it out and making it to graduation was a great personal achievement! I'm hoping to help spread the word about EDS, in order to raise awareness for research to find a cure, while encouraging others who are undiagnosed or currently suffering from a similar illness :)

Join the international EDS community:
www.rareconnect.org/en/community/ehlers-danlos-syndrome

Portugal Joins Hands in Solidarity

nobody@flickr.com (rarediseaseday) — Wed, 27 Feb 2013 03:48:01 -0800

rarediseaseday posted a photo:

Dia das Doenças Raras 2013, IBMC, Porto
Organização: Aliança e ORPHANET-Portugal
sábado, 23 fevereiro 2013
Foto: Núcleo de Cultura Científica, IBMC•INEB

Geman AKU Society

nobody@flickr.com (rarediseaseday) — Wed, 27 Feb 2013 02:43:34 -0800

rarediseaseday posted a photo:

Joining hands for Rare Disease Day. To learn more visit Deutschsprachige Selbsthilfegruppe für Alkaptonurie.V. dsaku.de/

Non dobbiamo arrenderci all'Emiplegia Alternante

nobody@flickr.com (rarediseaseday) — Tue, 26 Feb 2013 07:31:28 -0800

rarediseaseday posted a photo:

Ciao, sono Andrea. Vivo da venti anni con l' Emiplegia Alternante (AHC) ma per me l' Emiplegia Alternante non è niente in confronto ad altre malattie; bisogna essere forti e determinati per vivere al meglio bisogna sorridere nei momenti più bui. Grazie all'aiuto di alcuni amici vorrei riuscire a stare meno male e a gestirmi le crisi in completa autonomia. .. vorrei gestirmi.. le crisi grosse al meglio per riprendermi
Un giorno voglio fare un viaggio in completa autonomia e sono pronto a tutto pur di stare meglio non mi femerò davanti a nessun ostacolo..... perchè riuscirò a stare meglio questo lo prometto

Joing hands to help Rare Diseases

nobody@flickr.com (rarediseaseday) — Tue, 26 Feb 2013 05:51:50 -0800

rarediseaseday posted a photo:

Shire 300 MFG Joins hands to help support our patients with rare diseases!