RareConnect

RareConnect Connecting Rare Disease Patients Globally - www.rareconnect.org
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Living with a rare disease can be an isolating experience. RareConnect was created by EURORDIS (European Rare Disease Organisation) to provide a safe space where individuals and families affected by rare diseases can connect with each other, share vital experiences, and find helpful information and resources. RareConnect welcomes your thoughts, comments, suggestions and questions, but make sure your posts are of general interest to most readers. We will not allow comments that contain vulgar or abusive language; personal attacks of any kind; or offensive terms that target specific ethnic or racial groups. In addition, RareConnect will not allow comments that are spam, are clearly “off topic” or that promote services or products. All links posted as comments will be reviewed and may be deleted if deemed inappropriate. Comments that make unsupported accusations will also be subject to review. RareConnect wants to engage in conversation with all constituents, but we cannot promise that every message or post will receive a response. We reserve the right to remove any inappropriate comments. Repeated violations of this Facebook policy may cause the author to be blocked permanently from the this page.

Mission: RareConnect promotes global conversation and collaboration to improve the lives of rare disease patients and assist the organizations that serve them.

Beaulieu-Boycott-Innes Syndrome families are waiting for you! Share your story & connect with others worldwide in the ne...
17/06/2020

Beaulieu-Boycott-Innes Syndrome families are waiting for you! Share your story & connect with others worldwide in the new BBIS RareConnect community moderated by patient advocates: rareconnect.org/en/community/bbis

Let's #BreakTheIsolation!

Learn from each other about the challenges of living with and managing #NiemannPickTypeC. Participate in the recent disc...
16/06/2020

Learn from each other about the challenges of living with and managing #NiemannPickTypeC. Participate in the recent discussion about a long journey to receive a diagnose, an always rhetorical question that COVID19 have posed 'how much a human life is worth', take part in Patient Insights video series and share your journey with others in the Niemann Pick Type C RareConnect's community:
rareconnect.org/en/community/niemann-pick-disease-type-c

We're looking for people affected by any of these rare diseases that would like to connect with others living with the s...
15/06/2020

We're looking for people affected by any of these rare diseases that would like to connect with others living with the same condition. Interested? Send us an email at [email protected] or visit RareConnect!

Share this image and help us #BreakTheIsolation!

It's your first time in one of RareConnect's communities? Here's what you can do:- Talk with others like you. Ask questi...
12/06/2020

It's your first time in one of RareConnect's communities? Here's what you can do:

- Talk with others like you. Ask questions and find support.
- Send a private message to the community moderators.
- Become a RareConnect moderator yourself and help others in need of hope and healing.
- Keep up with the latest health news & updates from your community.
- Pin your location in the community map.
- Suggest links and articles for the Resources section.

New infographic illustrating the diagnostic odyssey many people affected by rare diseases experience, created through th...
11/06/2020

New infographic illustrating the diagnostic odyssey many people affected by rare diseases experience, created through the EURORDIS - European Rare Diseases Organisation-led Community Engagement Taskforce within the
Solve-RD project.

Save the date! July 31st is the 3rd Acute Necrotizing Encephalopathy (ANE) Awareness Day and ANE International wants to ...
10/06/2020

Save the date! July 31st is the 3rd Acute Necrotizing Encephalopathy (ANE) Awareness Day and ANE International wants to bring to light this ultra #raredisease. Join & build your support network in the ANE RareConnect community where you will also be able to check out the latest case studies about ANE and COVID19:
rareconnect.org/en/community/acute-necrotizing-encephalopathy

#AcuteNecrotizingEncephalopathy #AkutníNekrotizujícíEncefalopatie #EnzephalopathieAkuteNekrotisierende #EncefalopatíaAgudaNecrotizante #EncéphalopathieNécrosanteAiguë #EncefalopatiaNecrotizzanteAcuta #EncefalopatiaNecrotizanteAguda #AkutnaNekrotizirajućaEncefalopatija #ОстраяНекротическаяЭнцефалопатия

Online communities work best with more people and shared experiences so make sure to join one of our communities and tel...
09/06/2020

Online communities work best with more people and shared experiences so make sure to join one of our communities and tell us something about yourself and your rare disease journey – we’d love to hear your story!

📋 Metabolic Support UK is conducting a survey to better understand the impact of telemedicine on the rare disease commun...
08/06/2020

📋 Metabolic Support UK is conducting a survey to better understand the impact of telemedicine on the rare disease community during the coronavirus pandemic. Your experience will be shared with key opinion leaders to demonstrate the impact the use of telemedicine has had on patients and families living with rare diseases: rareconnect.org/en/user/metabolic_support_uk

June is Worldwide LAM Awareness Month!LAM is a rare lung disease that usually strikes women during the prime of their li...
07/06/2020

June is Worldwide LAM Awareness Month!

LAM is a rare lung disease that usually strikes women during the prime of their lives. Known as LAM for short, this disease is characterized by an abnormal growth of smooth muscle cells, especially in the lungs, lymphatic system and kidneys.

Awareness about #Lymphangioleiomyomatosis is important! Share your story of diagnosis and personal life experience on RareConnect.org and assist others in their journeys.
💬rareconnect.org/en/community/lymphangioleiomyomatosis

There are still many people living in all regions of the world that have yet to be properly diagnosed with Primary Cilia...
05/06/2020

There are still many people living in all regions of the world that have yet to be properly diagnosed with Primary Ciliary Dyskinesia. Take part in the study of the team from University of Bern that aims to clarify the issues surrounding Covid-19 and PCD. Share your story to join in building a safe and supportive international environment to welcome all #PCD patients worldwide in the RareConnect's #PrimaryCiliaryDyskinesia community:
rareconnect.org/en/community/pcd

#PrimäreZiliendyskinesie #DiscinesiaCiliarPrimaria #DyskinésieCiliairePrimitive #DiscinesiaCiliarePrimitiva #DiscinesiaCiliarPrimária #PrimarnaCilijarnaDiskinezija #СиндромКартагенера #原発性繊毛運動障害

June is Apert Syndrome Awareness Month!Telling your story will help others understand the disease better and why it is s...
04/06/2020

June is Apert Syndrome Awareness Month!

Telling your story will help others understand the disease better and why it is so important to continue research into this #raredisease. To submit your story, visit the Apert Syndrome RareConnect community: rareconnect.org/en/community/apert-syndrome

Living with Multiple System Atrophy is hard enough, but when you feel alone, it seems even harder. You are not alone! Jo...
03/06/2020

Living with Multiple System Atrophy is hard enough, but when you feel alone, it seems even harder. You are not alone! Join RareConnect and meet others affected by this rare degenerative, neurological disorder: rareconnect.org/en/community/multiple-system-atrophy

Individuals with Arrhythmogenic Right Ventricular Cardiomyopathy or #ARVC are waiting for you! Share your story & connec...
02/06/2020

Individuals with Arrhythmogenic Right Ventricular Cardiomyopathy or #ARVC are waiting for you! Share your story & connect with others worldwide in the new ARVC community moderated by ARVC-Selbsthilfe e.V.
rareconnect.org/en/community/arvc

Check out the  Vasculitis Foundation's latest webinar on Vasculitis Research Discoveries and Association France Vascular...
01/06/2020

Check out the Vasculitis Foundation's latest webinar on Vasculitis Research Discoveries and Association France Vascularites Covid-19 Recommendations. Join the RareConnect #Vasculitis community to share experiences and discover your support network! rareconnect.org/en/community/vasculitis

#RareDiseases

What foods do you stay away from while living with #Trimethylaminuria? Diet is one of the most common discussion topics ...
28/05/2020

What foods do you stay away from while living with #Trimethylaminuria? Diet is one of the most common discussion topics on the #TMAU community: rareconnect.org/en/community/trimethylaminuria

RareConnect responds to rare disease patients’ need for information and connection by creating international online comm...
27/05/2020

RareConnect responds to rare disease patients’ need for information and connection by creating international online communities for specific diseases. Explore all our communities and join yours today: rareconnect.org/en/communities

Share what you have learned about living with #Moyamoya disease. Share what you have been told, what surgeries have been...
26/05/2020

Share what you have learned about living with #Moyamoya disease. Share what you have been told, what surgeries have been performed. Suggest articles and resources to all those in the world living with this #raredisease with limited access to treatment, information and connections:
rareconnect.org/en/community/moyamoya-disease

Register now for the first webinar of the EURORDIS - European Rare Diseases Organisation Digital School 2020-2021 on the...
25/05/2020

Register now for the first webinar of the EURORDIS - European Rare Diseases Organisation Digital School 2020-2021 on the topic 'Helping Patient Organisations Plan and Create for Social Media Success': https://bit.ly/2LO8jgA

The EURODIS Digital School is a fully online programme, in English, composed of webinars and e-learning courses, available online for free for the rare disease community. This year's courses will take place from June to November. Sign up today!

We're looking for people affected by any of these rare diseases that would like to connect with others living with the s...
22/05/2020

We're looking for people affected by any of these rare diseases that would like to connect with others living with the same condition. Interested? Send us an email at [email protected] or visit RareConnect

Share this image and help us Break The Isolation!

We encourage you to share your own #RelapsingPolychondritis (RP) story! The more we can put a face to this disease, the ...
21/05/2020

We encourage you to share your own #RelapsingPolychondritis (RP) story! The more we can put a face to this disease, the better for all RP patients! To share your story, please visit our community: rareconnect.org/en/community/relapsing-polychondritis

#RelapsingPolychondritis #RezidivierendePolychondritis #ChronickáAtrofickáPolychondritida #PolicondritisRecidivante #PolychondriteAtrophiante #PolicondriteRicorrente #PolicondriteRecidivante #PonavljaniPolihondritis #РецидивирующийПолихондрит

RareConnect.org fully supports translation into 12 languages. Posts are automatically translated to the user’s preferred...
19/05/2020

RareConnect.org fully supports translation into 12 languages. Posts are automatically translated to the user’s preferred language to facilitate multi-lingual communication between members. Let's overcome the barriers of communication and #BreakTheIsolation that comes with living with a rare disease!

People living with #Alkaptonuria are waiting for you! Share your story & connect with others worldwide in the #AKU commu...
19/05/2020

People living with #Alkaptonuria are waiting for you! Share your story & connect with others worldwide in the #AKU community moderated by the AKU Society.
rareconnect.org/en/community/alkaptonuria-aku

RareConnect communities are a great multilingual place to provide and receive advice on diagnosis and treatment options ...
18/05/2020

RareConnect communities are a great multilingual place to provide and receive advice on diagnosis and treatment options and talk about your own experiences of living with a rare disease. rareconnect.org/en/communities

In the light of the Awareness Month Campaign "Shine a light on Neurofibromatosis" we encourage you to share your own #Ne...
17/05/2020

In the light of the Awareness Month Campaign "Shine a light on Neurofibromatosis" we encourage you to share your own #Neurofibromatosis story! Awareness about Neurofibromatosis is always important. The more we can put a face to this disease, the better for all #NF patients! To share your story, please visit our community:
rareconnect.org/en/community/neurofibromatosis-type-1

Join the RareConnect Congenital Disorders of Glycosylation RareConnect community to share your story, experiences and di...
15/05/2020

Join the RareConnect Congenital Disorders of Glycosylation RareConnect community to share your story, experiences and discover your support network! Follow the different CDG groups on social media and use the toolkit created to help mark the #WorldCDGDay2020.
rareconnect.org/en/community/cdg

Tomorrow kicks off the virtual #ECRD2020! The interface already looks amazing and the networking opportunities are endle...
13/05/2020

Tomorrow kicks off the virtual #ECRD2020! The interface already looks amazing and the networking opportunities are endless. Last chance to register if you want to participate tomorrow and Friday. We look forward to connecting with you! www.rare-diseases.eu/

#FOXP1 families are waiting for you! Share your story & connect with others worldwide in the multilingual FOXP1 communit...
13/05/2020

#FOXP1 families are waiting for you! Share your story & connect with others worldwide in the multilingual FOXP1 community moderated by patient advocates. rareconnect.org/en/community/foxp1

We hope you’re all well. This is a difficult time for everyone, but especially for those living with rare diseases. Our ...
12/05/2020

We hope you’re all well. This is a difficult time for everyone, but especially for those living with rare diseases. Our online communities continue to provide support and understanding in a safe and moderated space: rareconnect.org/en/communities

Having a rare disease can be very lonely when you think you are the only person in the world with the condition.Being pa...
08/05/2020

Having a rare disease can be very lonely when you think you are the only person in the world with the condition.

Being part of an online community can mitigate some of this loneliness. Join RareConnect now!

We're looking for others living with #LIG4 and #FERMT3 mutations that wish to connect with another person affected by th...
07/05/2020

We're looking for others living with #LIG4 and #FERMT3 mutations that wish to connect with another person affected by these gene mutations. +info: http://ow.ly/UPPX50zsKDt

Interacting with other rare disease patients can help them realise that they are not alone with their condition and ther...
05/05/2020

Interacting with other rare disease patients can help them realise that they are not alone with their condition and there are treatments available. Join RareConnect today and discover your support network!

On May 5, more than 80 organizations around the world will participate in World Pulmonary Hypertension Day activities to...
05/05/2020

On May 5, more than 80 organizations around the world will participate in World Pulmonary Hypertension Day activities to raise awareness of this frequently misdiagnosed disease and celebrate the lives of people living with PH. To know more about what Pulmonary Hypertension is and how various Pulmonary Hypertension associations are participating in this worldwide awareness campaign to advocate for access to PH diagnosis, treatment and care, follow the different groups and initiatives for families and individuals with PH on social media.

Pulmonary Hypertension Association Europe has released a special frame for Facebook for #WorldPHDay2020 and the Pulmonary Hypertension Association has created a social media toolkit on how to get involved in this day: https://worldphday.org/

*Join the Pulmonary Hypertension RareConnect's community to share experiences, ask questions, and discover your support network: rareconnect.org/en/community/pulmonary-hypertension

04/05/2020
EURORDIS - European Rare Diseases Organisation

Preliminary results of the COVID-19 & rare diseases survey conducted by EURORDIS - European Rare Diseases Organisation are out now!

#News 5,000+ rare disease patients & their family members from 78 countries representing 900+ diseases have already responded to our #RareBarometer survey on the impact of #COVID19. Preliminary results are out today:https://download2.eurordis.org/documents/pdf/PressRelease_COVID19surveyresults.pdf

30/04/2020
Living with Turner Syndrome (Missing a X Chromosome)

Celeste was born with Turner syndrome and only has one X chromosome. They want the world to know that there is nothing to fear about their uniqueness, it is simply a reflection of natural human variation.

*Join the Turner syndrome community, share experiences, ask questions, and discover your support network: rareconnect.org/en/community/turner-syndrome

Celeste was born with Turner syndrome and only has one X chromosome. They want the world to know that there is nothing to fear about their uniqueness, it is ...

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Living with a rare disease can be an isolating experience. RareConnect was created to provide a safe space where individuals and families affected by rare diseases can connect with each other, share vital experiences, and find helpful information and resources. RareConnect welcomes your thoughts, comments, suggestions and questions, but make sure your posts are of general interest to most readers. We will not allow comments that contain vulgar or abusive language; personal attacks of any kind; or offensive terms that target specific ethnic or racial groups. In addition, RareConnect will not allow comments that are spam, are clearly “off topic” or that promote services or products. All links posted as comments will be reviewed and may be deleted if deemed inappropriate. Comments that make unsupported accusations will also be subject to review. RareConnect wants to engage in conversation with all constituents, but we cannot promise that every message or post will receive a response. We reserve the right to remove any inappropriate comments. Repeated violations of this Facebook policy may cause the author to be blocked permanently from the this page.

Organisations à But Non Lucratifss á proximité


Autres Organisation non gouvernementale (ONG) à Barcelona

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Videoclip Dedicated to RAREDISEASEDAY 💎💎 Everybody has his own obstacles But if we add the gold We’ll be stronger than before
My daughter, Sarah, has Celiac and spent years trying to teach herself how to be safely gluten free. In doing so she discovered she feels better when she is also dairy free. She recently started a Food Blog posting adjusted family meal favorite recipes and new recipes she has discovered along the way. You can find her at
My daughters just discovered this wonderful opportunity for a safe adventure for those with Celiac and wanted to share it with others.
My daughter, Sarah, has Behcets and possibly Celiac and has had a long journey in finding out how to eat the right foods to keep herself balanced and healthy. She would like to help others who have the same frustrations so she started a blog and is posting her gluten free and dairy free recipes online. It's called SarahKeepsItSimple. Have fun eating! :-)
Avec Rareconnect on allège les soufrance
I would recommend this site . My difficulty os in seeingwell enough to send messages or messages to communicate on my own behalf. The Myasthenia is the cause of this problem . Perhaps there could be a way of getting into the site without the use of such a complicated code to enter .
I'm putting out feelers: I'm looking for anyone who has been diagnosed with a "misprint" on their MYH7 gene. Maybe you aren't sure? Have you had muscle weakness (hypotonia) since birth? Have you heard that you were a "floppy baby"? Did you, or do you, have scoliosis? Do you have cardiac and/or pulmonary issues of unknown origin? Have all other early diagnostic work-ups come up empty? Do these questions ring true to you or your child? I'd love to connect with you. This is a legitimate request, not a product or service solicitation of any kind. Just a momma reaching out...
Bonnes Nouvelles! Le sondage OT # 2: Symptômes et Diagnostic est maintenant disponible en français! Nous nous excusons pour le fait que nous n’ayons pas pu le publier initialement en français via l’outil SurveyMonkey, car ils facturent $2000US pour la traduction de l’anglais vers une autre langue. Nous avons fait de notre mieux pour le traduire nous-mêmes. Nous nous excusons dès le départ pour toute traduction incorrecte que nous aurions pu utiliser. Ci-dessous le lien pour voir et commencer le sondage. https://www.surveymonkey.com/r/SONAGE_OT_2_SYMPTOMES_ET_DIAGNOSTIC Les résultats sont 100% confidentiels et l'enquête peut être complétée avec n'importe quel type d'ordinateur, tablette ou smartphone. Le sondage devrait durer environ 30 à 40 minutes. Après avoir terminé chaque page, vous devez cliquer sur le bouton "Suivant" pour enregistrer vos progrès et continuer le sondage. Vous avez également la possibilité de revenir aux pages précédentes en appuyant sur le bouton «Précédent». Si vous ne pouvez pas remplir le sondage en une fois, vous pouvez le fermer et le rouvrir à partir de ce moment-là en utilisant le lien que vous avez reçu par courrier électronique ou par la poste sur Facebook. S'il vous plaît essayez de le terminer dès que possible. L'enquête se terminera le 24 mai. Après cette date, l’enquête ne sera plus disponible. Bien que vous ayez reçu plusieurs notifications et / ou invitations concernant le sondage, veuillez le remplir une seule fois. Si vous avez déjà participé à le sondage en anglais, il n'est pas nécessaire de la reprendre. Si vous souhaitez partager ce sondage avec un autre membre de la communauté OT qui n'a pas reçu le lien, vous pouvez nous envoyer une demande séparée par courrier électronique à l'adresse [email protected], ou vous pouvez partager le lien Facebook ou leur transférer ce message. Vos commentaires sont très importants pour la communauté OT. Merci de votre participation et de votre contribution à l’amélioration de notre compréhension et de notre sensibilisation au tremblement orthostatique. Si vous avez des questions, n'hésitez pas à nous envoyer un courriel en français et nous essaierons de vous aider dans la mesure du possible pour répondre au sondage. Meilleures salutations, L'équipe de Sondage OT Mike, Pam et Annetta
Rare Connect / SETD 5 Families We are now officially registered on the Rare Connect Organisation Website. https://www.rareconnect.org/en/communities Please search for SETD 5 and connect there as part of the Rare Disease Global Community. We look forward to welcoming you to our Rare Community. Kind Regards Janet Willicott
I am so happy to find this group!
PORTUGAL: On World Rare Diseases Day, take the opportunity to meet @Lovexair and #HappyAir that cares for the quality of life and well-being of tthose affected by chronic diseases. #doencasraraspt. March 10. Beach of Carcavelos, Lisbon. 1pm to 4pm. More information: https://happyair.org/dia-mundial-doencas-raras-portugal/
Story of dallas Dallas was born on the 9/8/08 he was a normal no hassle birth and was a very happy and healthy baby with absolutely no health issues until he was 14 months and 4days old On this day dallas slept longer than usual so sharmaine checked on him regular during the morning then around 9:30 am sharmaine went in to check on him and he had his eyes open and was making vocal sounds so Sharmaine went to pick him up and his. Little body was totally stiff then after around 5 min he went to jelly From this we took him straight to hospital ER and where dismissed as being over protective parents so for the next few weeks we noticed significant changes in Dallas’s abilities he could no longer weight bare standing up ,his ability to eat changed Then he started to try crawling but his legs did not cooperate and he effectively lost the use of his legs and could only commando crawl using his arms dragging his legs So we then presented to our gp who then referred us to our paediatric specialist after the first visit we were then referred to Brisbane royal children’s hospital where we had to obtain assessment after assessment in which found very limited issues medically So after this he was referred to neurological department and we found out he had epilepsy So over the next year we traveled back and fourth from BUNDABERG to Brisbane to see upto 13 different specialists By this stage dallas has developed a real issue around eating he would no longer eat his normal food and became very obsessive over particular food so we go to the dr and get referred to a Dietition with absolutely no luck at getting him to eat we then start with other departments to help get him to eat but the only food he would eat was the 4-6month old baby food in the little jars so under the guidance of multiple dieticians we fed him them and only them up to 50 a day but dallas did not improve in fact he had gotten worse so back to the hospital we go and they put a NG tube into help feed him This is when our whole world got turned upside down dallas began getting sick so we would take him to our gp who reassured us nothing was wrong We new something was wrong so off to emergency department and they turned us away saying nothing is wrong this continues for two weeks being brushed off then dallas became very irritable and couldn’t sleep so my darling wife and I went to emergency at 2am and got turned away again by this time our tempers where really flaring so at 8 am that morning Sharmaine packed a bag for herself and dallas went back to emergency and demanded to be seen but once again told it’s nothing to just go home but Sharmaine was at her wits end we all where so Sharmaine sat on the floor with dallas screaming in the middle of ED till our paediatric specialist was called down once the pead arrived looked at Dallas he was instantly admitted to the ward Dallas was in a bad way he could no longer sit without pain we could no longer pick him up with out him screaming he had a drip now for fluids and multiple medications we where in a world we had never been in before but we thought at least we are in hospital he will get treatment and fixed all good sadly this was not the case he was sent in under GA to get a pick line put in then sent for blood test after blood test the bone scans ,mri ect Then our world really got a shake up Dallas’s pick line had ruptured and at 2am Sharmaine woke to nurses holding dallas down to administer medications Dallas was screaming in pain but the nurses didn’t seem to see an issue so Sharmaine kicked the nurses out of the room and called security,police and myself I rushed up there to find a mass of excitement then situation settled and the nurses explained that they couldn’t get his pick line to work anymore but where really trying Sharmaine had been in the room holding dallas when she noticed a lump on his shoulder where his pick line went through this was where it ruptured and a mass of fluids and meds had developed by this time our older three children where placed with babysitters and Sharmaine and I both New we couldn’t leave his side so 7am we get told you have half an hour to clean the room of your belongings as Dallas is being transferred to royal children’s hospital wow we where a mess we didn’t understand what was going on or anything that was told to us we are new to any of this the time came for the paramedics to come and transfer dallas to the awaited royal flying doctor plane I followed very close to an ambulance who had our youngest son and my partner in there still not knowing the gravity of what was happening I carried dallas into the plane I set him down on the bed gave him a kiss and turned gave Sharmaine a kiss and watched as they flew away (he had so many tubes in him ) Once they where in the air I went back to the hospital to get the rest of our belongings went home got our dogs looked after , got our boys baby sat ,called work told them I wouldn’t be at work for I don’t know how long grabbed whatever clothes and stuff we may need and myself and our oldest daughter Annaleise jumped in the car and drove to Brisbane by this time my head was spinning I wasn’t sure what was happening so I looked over at anna and said this will be a quick trip we never stopped at all and speed limits where only a guide Once we arrived we went up to his ward (McConnel ward) and there he was with about 14 people around him and Sharmaine trying to understand what was happening all we could process was they were sending him for surgery to get the pick line out so our youngest was just taken into surgery we had no idea what to expect so we went down to get something to eat but none of us could eat We went back up to his room sat there then he was in recovery and Sharmaine and I went to get him awesome feeling (two parents where allowed in recovery at rch) we got him back to his bed by this time it was time for me to look at a place for me and Anna to stay I had no luck so anna stayed with Sharmaine and dallas while I slept in the car The next day the nurses showed me the parents room but I had organised a motel at chermside so we stayed there for 3 weeks then our money ran out and dallas had still not improved so I took anna back to BUNDABERG and a cane straight back then parked the car in the hospital car park went back to see dallas and Sharmaine this is when things got really hard as our drs had no idea what was going on with dallas we got taken to a room and informed that dallas was most likely going to pass away and to be prepared for this our world just came crashing down emotionally,financially we where lost then our local paediatric specialist gave us a call and asked how dallas was ect so we informed her never did we think she was still investigating his situation she then informed us that she thinks dallas has scurvy and we thought oh yea whatever so when the drs came in we asked for blood to be taken to see his vitamin c levels they where not very responsive to this request By this time dallas had still not improved and his gums had turned black his teeth where bleeding he had all these tiny spots on his arms and legs from blood vessels popping then a dr came in to check his obs and grabbed his wrist to check his pulse his arm swelled up and turned black instantly so he was worried and called for an X-ray and bloods to check vitamin levels The next day I woke up from out in the car came in at 6am and at 7am we had this dr come in all excited and bouncing around saying we know what is causing this we know so we asked him and he said that the blood came back and it was in fact scurvy so he had a mass introduction to vitamin c it was put in everything all liquids all his Nutella and also his baby food which he never ever ate again after seeing it contaminated We then had this mass excitement of people coming in to take photos, people asking for permission to enter his story in the medical journal So for the next week I slept in my car awaiting his discharge home This was the hospital experience that changed our views on hospitals no longer did we think you go to hospital to get fixed we now realised our health staff don’t know everything we also realised our health system is divided our rural hospitals are not taken seriously by our city hospitals Then our discharge day came it was the day before all patients where to be transferred over to this new fancy children’s hospital (lcch ) At this stage we were very deeply into dallas health issues so waited and waited for our follow up appointments at this new hospital but they never came so we called and they had lost all Dallas’s medical files our son was no longer on there books so after a few weeks we get a call saying they have found some of his file and requested us attend a few appointments all good great I thought it would be the same as (rch) but no we no longer got consolidated appointments we would have to travel multiple times a week down and back plus we had only just found out about the ptss system from Justine so off we go lodge papers all good this is great we finally get a little help with travel woohoo But the new system being used down at lcch caused more issues as appointments where staggered 1 on Monday 1 on Wednesday 2on Friday so this caused more issues with me having to take time off work we were held to ransom over our sons medical treatment I contemplated quitting work just so we could get him the help required so I went in spoke to my bosses and explained everything that was going on and they supported us with this so I didn’t have to quit Sharmaine had always been the one to deal with the hospital appointments and she would just tell me when and where and I would take those days off work to be there as I am a father who wants to be involved in my children’s health care ect Then we had our appointments scheduled 1 on Wednesday 1 on Thursday 1on Friday 1on the following Monday so all papers where submitted to our local hospital and all approved great off we went then late Friday afternoon we got a call stating our ptss office would not pay for the weekend instead we had to travel home Friday night then back early morning on Monday (they don’t find family vacations ) so we had some tuff decisions to make as we were broke had only enough money to pay for fuel home so this caused an argument between myself and Sharmaine (I was blaming her for not organising appointments better not my finest hour ) so in the car we go back home canceled the appointment on Monday and that was that Sharmaine and I argued all the way home then Sharmaine snapped and said if you think you can do better fine you organise it from now on So me being pig headed said fine I will it can’t be that hard how wrong was I this was a nightmare so I started complaining about it a little bit all while still not knowing what is wrong with dallas so the next few months we had surgery for peg , appointments where hectic all while still having no answers Then we got to the stage where doctors where starting to say dallas is a hard case we don’t know what’s going on with him so we will just monitor and see if something changes This is the day we both realised our son was not being treated by our doctors instead being used as a test dummy for a condition nobody knows what it is We had also had multiple very serious misdiagnosis which scared us greatly So we then had our metabolic appointment come up so we attend and are informed dallas has exhausted all testing options within Queensland health and no answers have popped up so I had just seen a show the night before on genetic testing and both Sharmaine and I asked about it and we got told oh yes we can perform those tests but they come at a mass cost so we asked if it would be beneficial ect and we got told yes definitely 89% success rate in diagnosis so we said right let’s do it then we get told it’s $7000 per person as we need to test dallas myself and Sharmaine to perform this test We left knowing this was not going to happen how the hell can we come up with $21000 plus $1800 per blood test we needed $30000 So after a few weeks Justine informed us of a community cabinet meeting being held in BUNDABERG so we all attended and voiced our concerns then about three weeks later we get a call from our specialist saying the testing has been approved for a research project and would be only a minimum cost so great we can do this The testing was performed and we waited patiently for the results which could take up to twelve months So I also raised a fair few other issues with our health system and was invited to attend some consumer engagement meetings which I found very boring and one sided but I attended and started voicing my opinion about a few issues then joined multiple consumer groups and state wide committees all to get people to understand a patients journey and the impact it has on families Then Dallas’s results came back and we got a diagnosis woohoo but that was short lived as we then found out dallas has van maldergem syndrome 2 but he was only one of six in the world wow So we went home and started talking and turned to the internet to see if anyone else has herd of this but sadly nothing so Sharmaine had been running her page special needs kids Australia for a few years she decided to make a group on Facebook around vmlds2 then bam we found Lindsay then we found a few others all on this one page we finally had some people to talk to about this but it didn’t take long to realise it’s a disease nobody knows anything about in all of the world we are a collective group in the world with absolutely no guidance we are all alone We now have 12 in the world most are on our page and we all share our story’s and issues Now we have the issue of being the only family in Australia with this condition and we have to weed out the doctors who are only using dallas as a notch in there belt this was a very hard situation to be in so our local paediatric specialist is fantastic and supports us with any crazy requests also our metabolic specialist supports us with everything so he joins our Facebook group to understand what we are saying and also to gain more knowledge this was the start of our partnership with our specialists our local paediatric specialist and metabolic specialist would engage with me outside of business hours and also join in on international emails to other specialists also contribute to a world medical journal submission so we can have research paper on at least 6 -8 patients with the same condition in one journal submission this was a major win and is still ongoing Life after genetic testing and an ultra rare syndrome is discovered Before diagnosis our son had a mass of interest from specialists in all areas it was a constant battle keeping up with appointments Then we found and pushed for genetic testing and we where lucky enough to get a diagnosis (label) The problem is once we gained this diagnosis and we found out how rare it was across the world our hospital trips significantly dropped which is a good thing financially We found most specialists used this to there advantage and any ailment was just excused as that must be part of the vmlds2 diagnosis and the investigations stopped we then had all appointments changed to yearly and felt let down by our system because there is no continuation of care because simply our sons condition has every health professional baffled as to how or what is causing issues So there are many pluses with gaining a diagnosis we have less trips to Brisbane and this has enabled my wife to return to work and we where able to buy a house But the down side is that there is less support for dallas now and I feel like a fair few specialists have seen this as an easy way out We now only have three specialists who are very responsive to all issues dallas has and they are our local paediatric specialist our metabolic specialist and our neurologist So a diagnosis may be great to have an official label But sometimes I wish we never got one as all specialists took an interest in Dallas’s changes back then So in writing this I just wanted to share some of our journey there is heaps I have left out but this gives a little insight into our situation