Pseudohypoaldosteronism refers to a heterogeneous group of disorders of electrolyte metabolism characterized by an apparent state of renal tubular unresponsiveness or resistance to the action of aldosterone.
Dear sir, I see that none respond to your call. As you were alone than now that is my problem. My son has PHA 1 and he is now 2 years old. We run thru hell these last 2 years and as we live in Serbia we dont have too much doctors interested and paid for research on any rare diseases. So I'm hoping for at least words of consolation. I hope your son is well now :)
I just joined the site and was hoping to get more information on the prognosis and longterm treatment of my son. He is currently 10 months old and was clinically diagnosed with PHA at 5 weeks. Our journey has been quite a roller coaster and we feel so lonely in his treatment because his disorder is so rare. I would love to talk to others who are in our situation. Please feel free to contact me through email if you prefer at email@example.com. Thank you for any informaion you have to offer on PHA!
http://www.facebook.com/pages/Pseudohypoaldosteronism/179879242048282 this is the link to the PHA group but as there are so few of us we just do personals. You can send me a friend request - Amanda Redgate. Do you know the names of the 2 gene mutations? Were they WNK1 and WNK4? Samantha also has high BP - Katie is the only baby that I have come across that also has high BP. I'll reply to your email after work. Come join us on Facebook.
Hi Everyone, We just received our news from the Genetics team in Paris that Katie has got PHA Type 1 with 2 Mutations in her gene. still waiting on final reports from Paris, however she has also had a sweat test recently and she sweats excessive amounts of Sodium chloride through her skin and is on i very high level of salt compared to other PHA types that they know of. she is also now on blood pressure medication to lowere her BP of 125. Bloods have been good lately still have port-a-cath and nasal gastric tube for meds but hoping to go to gastostomy soon as i think this will be better for her development not having her arms tied down so much. is there a facbook page or group or is it just individual people to accept as friends?
My son Chase is 10 months old and was clinically diagnosed with PHA at 5 weeks. Information is so hard to find about the prognosis...I too am on facebook. I can be contacted at firstname.lastname@example.org or on facebook, my name is Michelle Nichols. I live in the US in North Carolina.
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.
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After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.
Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.
Visit sanfordresearch.org/CoRDS to enroll.
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