Any success with creating an advocacy group (PAG)? Do you need help? What is the situation? Lada

Miss Lada, Sorry it has been awhile since I last contacted you on this issue. My beautiful sister passed away a couple of months ago and I have been dealing with the loss. I have gathered some information on how to go about forming a group. It is a very long and difficult process. I will try to regroup and do my best. Has anyone else expressed an interest in this endeavor? I have another question: who can be tested for the Dent disease gene? Can siblings be tested? Thanks again Lada! Hope to hear from you soon. -Cathy F.-

I am so sorry for your sister. You must feel terrible. There was somebody else interested in PAG, I remember, on our previous discussion topic. I know it is quite complicated but it would be worth it. We are happy to announce that we are now testing patients as part of our research protocol for free. Siblings can be tested. Please contact our research coordinator Barbara Seide at Mayo clinic. Phone: 507-255-0387 | 800-270-4637 | fax: 507-255-0770 | seide.barbara@mayo.edu | hyperoxaluriacenter@mayo.edu | Lada

Thank-you. I will keep working on it.

My name is Cathy Forrest. My father had Dent Disease and my son has Dent Disease. I am in the process of starting up a Dent Patient Advocacy Group, as having a PAG is essential to further understanding, treatment, medical study, and the funding of research for this disease. I attended the Rare Disease Conference in Rockville, Maryland, Tuesday, October 2nd. The conference was very informative. I met and spoke with Dr. Lada and we are very lucky to have her working on solving the mystery of Dent(s). Thank-you! The road is long but I believe we must have a PAG to continue the interest in Dent(s). It appears at this point in time that the number of people who have Dent(s) is approx. 83. Communication, education and fundraising would be some of the PAGS duties. Prolonging the health of the kidney would be our goal. We could possibly work with other groups who have the health of the kidneys as their goal. Although our specialty so to speak would be Dent(s) Disease. Please feel free to express your thoughts and ideas on this matter.

I am going to go out on a limb here and ask that when it comes to Dent(s). What family member was the furthest back you remember had it and where was the location of this person. I know that this can be a delicate issue so if you cannot say it is understandable. My father was born in 1935 in Syracuse, New York. I ask because their must be more people affected by this disease then know about it. Thank-you.

It was really wonderful and inspiring to meet you and your family at the meeting. I believe we can achieve the goals together and I'm honored to participate. Another member of Rare Share expressed interest in helping with the PAG. I will forward you his email. All the best! Lada

My father had Dents and does my son. My father was born in 1933 in Brooklyn (I think), New York.

My father had Dent Disease and was born in 1918 in Washington, Pennsylvania.

Known Dent Disease in my family : 1. My father, born in 1920 and died 1959. 2.One of his three brothers (my uncle), born 1918 and died 1951. I believe they were both born in Lowell, Massachusetts, of Eastern European descent. 3. This uncle's grandson, born in 1972 (he had a transplant from his mother,my cousin, in his twenties). 4. And, of course, my son, born in 1992. Lada, I actually have a copy of the clinical records from the hospital where my father was seen and eventually died. It is the Veterans Administration Hospital in Boston (VA Medical Center - West Roxbury). If it is ever helpful, I do not mind sending you a copy. It is a 6 page medical diary of my dad's condition and procedures during his last 18 months (1958-1959). They did not know it was Dent's disease.

Thank you. My son has made a website for Dent Disease. dentdisease.com please check it out. . He has put a forum on the website for anyone who may want to tell their story. I have traced my own family history of this disease to 1866 in upstate New York. My goal is to find as many descendants as possible in order for them to be knowledgeable and aware of this disease. I believe that many more are affected by Dent's and are not aware of it. It can be hard to trace. I have encouraged my son, who has Dent's to tell his story on the Dent Disease website so he can connect with other people his own age who have the gene. Would it be ok for me to keep a chart of the information on your family dent history? This would include location, year and possibly nation of origin. My father's family line came from England. I am working on forming the Patient Advocacy Group, at this time I am gathering information on how to get incorporated. Happy Holidays to All!

Thanks epjfk. I am so glad our sons are now getting somewhat involved. My son, 20 years old, seems to also just this year be getting more interested. I am definitely open to sharing any information , so I will look at your son's website and also let my own son know of its existence. About our family, I tried to track Dent's to earlier generations, but found no signs of Dent's before my paternal grandmother. She was definitely a carrier because she had four sons and two of them (50%) had Dent's disease.

The further back you go the harder it is to confirm kidney issues. It is sad to note that our ancestors had to suffer through the sudden onset of kidney failure. Someone who seemed so healthy suddenly becoming gravely ill. No options available to them. Also, while doing research I found that even the doctors did not have a clear understanding of what was happening. Another issue I found, the delicate nature of informing family members, distance and close that a mutant gene is in the family line. Some of them were not open to discussing the issue. Private and delicate. Insurance issues come up too.

Epjfk, I congratulate your and your son's efforts in creating a PAG! I have checked out dentdisease.com, it looks great! I have registered already. It makes a difference when a site is created and empowered by patients and their families. I hope for you to create a fully functional PAG that can collect money for research and other Dent-related causes. I know people wanted to donate money before, but I could not even suggest a source. I believe you can have a real influence on what is happening with Dent disease! Our patient-targeted meeting in London (mostly for Cystinuria pts but we'll have Dent too) is taking place in Decmeber. A couple of our UK and possibly a US pt will come. We can soon plan together to have a PAG meeting in the US. Boston area comes to mind since several people lived there. I would be happy to assist and I will take notes at London meeting! We could ask Dr. Scheinman to talk and tell us all about his Dent discoveries. That is a fascinating story and I didn't even hear all the details. I'll see him in London and will talk to him. Hurray! Lada

Thanks Lada. Although I live in western Canada, I could probably be able to attend a meeting in Boston as I have relatives and friends there, so that sounds great. And obviously any city northwest or Minnesota would be other good options for me.

I have managed to trace my father's maternal side of the family. John Roush (Raush) emigrated from Germany in 1736. His 4th child, Abraham Roush, married his cousin, Susannah Roush. Their 7th child, Mary Roush,married Jacob Kaylor. Their 7th child, Michael Kaylor, married Gwendolyn Hoffman. Their 4th child, Mary Delpha Kaylor (my grandmother), married Thomas Edgar Moffitt. They had 11 children; I know of one with kidney stones and two who died of kidney failure, including my dad. Both of my sons have Dents and have had successful kidney transplants. My grandson has Dents. It appears that most of my ancestors settled in the West Virginia, Ohio, and Washington, Pennsylvania areas before moving to Baltimore. I hope this information is helpful.

Excellent, Thank-you. I am planning on mapping out the locations where Dents shows up. It seems to be the greater number affected by a disease the more it is likely to be funded for research. If you have time please check out the website dentdisease.com

That is correct, the more we can document the presence of the disease and your willingness to participate in studying it, the more chance we have to get funding to study it and eventually find better ways to treat it. Right now, the taxpayers money is funding the research (including your own) but we have to justify its spending to extend the funding. We have to produce results and it does not happen without investment of time and energy. The more people realize this, the better for all. It appears to take time, but we have started moving and I hope we will continue, faster and faster. Lada

Great News. The Dent Disease Foundation is now officially a 501(c)(3).

Fantastic! Congratulations! Your hard work is greatly appreciated and will make difference. Do make a Facebook notification as well. Lada

Hi all, My name is Emily. I have a son, Flint, who is awaiting official diagnosis of Dent through Mayo. He is 3 years old and we've been trying to get to the bottom of the problems he's been experiencing for a year now. We're at the home stretch, and fairly positive this is the diagnosis. Are there any other parents here with younger children? Are there any other places online I should be looking for support and community? I've friended a couple of Dent links on Facebook, but that's about it... I'd love someone to talk to about their experience. We should hear back from Mayo any day now, as to whether our sweet boy has Dent or not. Thanks for being here! Emily

It's great reading through these posts and seeing how the interest and hard work of others has lead to some more awareness of this disease. I applaud you all. Though I am still waiting for the genetic diagnosis of my young son, my husband and I are ready to roll our sleeves up and get involved with what we can. Please don't hesitate to reach out. Emily Q, I believe I messaged you on face book last week when I read a post of yours on the Mayo Clinics' site. Not sure if you got it...I was interested on how your experience was with your sons diagnosis as that is what I'm going through right now.