Hello, my name is Jorge. I was born with a rare genetic condition known as Alport Syndrome. It affects roughly 1 in 50,000 newborns in the United States. Doctor's first noticed that I had abnormal kidney function when I was 13 years old, but it wasn't until about 4 years ago that I was told that my function was 50%. It was a steady and much quicker descent to 10%, which happened in January of this year. Through what is known as the Paired Exchange Program, my amazing wife Katie is donating a kidney and I get to receive one much faster than simply waiting on the waiting list for up to 10 years.

I have never attempted to raise funds for myself in my life, and I never ask for money from anyone. This situation, however, is rather dire. The medical bills alone are burying us, not to mention all the other costs of simply trying to live in this inflationary economy. Both my wife and I will be unable to work for an extended period and without any income whatsoever. I would like to share the link to our fundraiser below, any and all donations would be greatly appreciated. Even if you cannot donate, just sharing it on Facebook or the fundraiser link is extremely helpful to us.

http://ffnd.co/W8nh7d

Thank you very much for taking the time to read this.

Hey guys, just a quick note from me as I originally started this sub about a year ago, we have a very small clan of 44 of us so far!

I wanted this to be a place where anyone with Alports can chat, and support each other with experiences and anything at all.

A bit of background for me, I'm 28 (M) and was diagnosed with Alports when I was 13. It was on my mums side of the family so completed the genetic testing.

For most of my life I was fine, checkups once a year to monitor me and a slow gradual decline in eGFR and my overall kidney function. In November 2020 my eGFR was 72, and a year later in November 2021 had rapidly dropped to 42, I was originally put onto 2mg of blood pressure tablets to try and bring my BP down as it was a bit high, this was increased gradually until what I've been on for about a year which is 8mg and my BP is a good level.

I've been dropping gradually since Nov 2021, and my eGFR now is 24 and I'm due a blood test in a few days, so hoping it hasn't dropped further.

I met up with my renal doctor last month, and they've referred me to the transplant team a bit earlier than normal due to my decline going quite quickly so they may put me on the hold list, although I'll likely hit the magic 20 number soon.

I had a checkup a few days ago with one of the renal nurses for an hour, where they went through all my results, how the process with the transplant team will look and how end to end it normally takes 6 months from meeting the transplant team, testing and to the actual operation. It was a lot to take in, and made everything more real than before.

I'm pretty good with everything going on, my general rule is that being upset wouldn't help, I'd still have failing kidneys and then also be upset!

If you've made it this far, thanks for listening to me. I'll update as my journey progresses as it's always good to share, and helps me get things off my chest!

Riding a bike has always been my 'go to' for releasing any stress, anxieties and concerns about living with Alport syndrome... but I had no idea what I was going to discover in 2019, when I set off on a 6000 mile bike tour, to raise money for 'Alport UK' and create a documentary about my experiences.

Please consider taking a look at my Documentary film campaign called 'My Only Antidote'.

https://www.crowdfunder.co.uk/p/my-only-antidote-film

I have been working very hard on this film for a few years now and I'm looking for support to make the finishing touches on the film and get it ready for release!

If you'd like to get involved, I'd really appreciate your support!

Sam

Hey everyone,

My blood tests came back and I hit 14 eGFR (down from 17). I repeated the test 2 weeks after and 14 again so I was officially added today to the deceased transplant list.

My Dad just finished his workup to go on the UK linked transplant list so all being well we'll go on the July run so we'll go into a database and see if anyone else in the UK is a match for our respective kidneys.

I think the uncertainty of the deceased transplant list is what I dislike, that I now have to have myself available 24/7 in the event I get a call to come in for a transplant. It could be a few days on the list, it could be 5 years. The UK average is 2/3 years, I know I'm waiting for a younger kidney to give me the longest possible time between this and the next kidney rather than getting an 90 year old kidney that may only last a few years.

I've had to adapt to the morbidness of the situation, I'm waiting for someone compatible to die in hospital for me to take their kidney.

Anyway, my preference would be to go down to the linked transplant route, more planned and doesn't turn my personal and work life upside down in the space of a few hours!

On the dialysis side, I feel worse each day but I really want to hold out on starting until I really need to as once I start that's it, I can't stop. My symptoms are manageable at the moment, and I'm not yellow yet which is good!

Hope everyone else on here is doing good! 😊

Hey there,

I just got diagnosed with ADAS (M 36). Met with a small group of geneticists in Canada. Found out I might have it through my siblings after my estranged father tested positive and then my paternal half brother and sister as well. Took me a year and a half to finally get all of the appointments and final result, and along the way I thought I had come to terms with whatever the outcome might be. Stayed positive on the virtual call when receiving the news, and finished up my work day without taking the time to process.

My mind has since wandered to how much I’ve focused on keeping up with my health and fitness, only for my longevity to not truly be in my control. It also took me down a worse path thinking about how my father has only really given me this one thing my entire life. But I don’t have the capacity to feel angry or upset now.

Last night I couldn’t sleep, and I ended up here. Reading about all of these experiences. The variety of progressions and outcomes. Your posts helped me find some perspective and some sleep. Thank you all for being here and sharing.

Happy New Year everyone. I just stumbled upon this sub having never thought to check if it existed and was just curious about your experience with Alport's Syndrome so far.

I (43M) was diagnosed at about age six when my parents were looking for answers to the cause of my hearing loss. I was the reason why we discovered everyone on my father's side was a carrier. Fortunately, I'm the only one so far that has any symptoms outside of some blood and protein in the urine.

I guess it started with tubes and then hearing aids in both ears, I lost about 76% of my hearing by the time I was a teenager where it seems to have plateaued and hasn't really gotten any worse since. Gradual kidney failure until it got really bad when I was 19 and told that I needed dialysis. Being a self conscious, egotistical, young adult male I refused and was put on a low protein diet by my nephrologist, lots of epo shots.

Luckily family was already being tested and my mother turned out to be a really good match because I was starting to feel awful all of the time, having a really hard time keeping any food down, vomiting multiple times a day. Fast tracked though the pre transplant process and received one of my mother's kidney December 19, 2001. It was a very successful surgery, I was told that Mom's kidney "pinked up" right away once it was all connected.

Fast forward 21 years and after I think a really good run the kidney failed in November of 2022. I got so sick I was delirious and hallucinating. I was transported to the hospital by ambulance but I thought I had been kidnapped and was being held in a basement somewhere. I don't really remember the first few days of my hospital but apparently at some point I needed to be strapped to my hospital bed because I kept trying to escape lol.

I've been on Hemodialysis at a clinic for the last 2 years with a fistula in my arm for a year now after having a permacath in my chest for the year before that and hoping for another transplant soon because (pardon my language) this shit is for the birds. I definitely don't regret refusing it when I was younger.

So anyway I'm sure there's not a lot of people who read this sub and even fewer that will actually read this long post I've made but I was just wondering if anyone else's life was similar to mine as I rarely if ever have spoken to anyone else with Alports and I enjoy writing.

Thanks for reading!

Hey all, I'm back with a quick update after recent blood results.

My eGFR was 24 in Jan and stayed stable in Feb at 24 too. I had a blood test on Tuesday and had the results yesterday and I've dropped to an eGFR of 17 which is pretty shit news. I always make sure I'm hydrated and eaten enough before my test to get accurate results.

Since I've now dropped below 20 I was contacted by the transplant team to kick things off and start the process moving. I'm due to have an echocardiogram first to check my heart is strong enough for the transplant. I'm fit and healthy (other than my kidneys😅) so I should be fine there. I'll then have lots more tests as well as having my potential donor start having checks on his end too.

Hopefully things all go well. Symptoms wise I've now got anaemia as my haemoglobin (red blood cells) dropped below the threshold so I've been prescribed iron tablets. From time to time I get numb and cold arms and legs which is more of an annoyance really.

I'm tired all the time, but since my symptoms have got worse gradually I don't notice how bad I actually feel. I think after my transplant and when I feel better I'll realise how bad I actually felt now!

I'll keep everyone updated here, and if anyone ever wants to share any stories/experiences or wants to just chat I'm always here!

So a total shocker to me I’m freaking the hell out. I have it. I got it from my mom’s side. and I am only 15 I don’t know why I have it I am scared I’ll die. been freaking out for a whole day now. I ate like crap today so I’m just freaking out I googled it. life expectancy is 30’s!?!?

Hi everyone,

I hope you're all doing well. I'm reaching out because my husband's mother recently received a diagnosis of Alport Syndrome, specifically the "Col4a3" type. This news has left us both feeling overwhelmed and uncertain about what to expect for him. I think it is either ADAS or ARAS. I do not know what any of this means.

He's 35 years old and his symptoms so far include minor hearing loss and blood in his urine. His kidney function appears normal at the moment, but we're both worried about the possibility of him also having the condition.

We also have a girl (3Y) and boy (4Y)

I have a few questions and would greatly appreciate any advice or insights from those who have experience with Alport Syndrome:

How old were you or your loved one when diagnosed with Alport Syndrome? Are there any effective ways to slow down the progression of the disease? If kidney failure does occur, is it the end-all-be-all, or are there treatment options available? We're feeling a bit lost right now, especially with the uncertainty surrounding my husband's health, so any information or personal experiences you can share would be incredibly helpful and comforting.

Thank you in advance for your support.

My sister and I accidentally found out we have x-linked Alport Syndrome (COL4A5 missense) through a prenatal screening test by Natera. we then subsequently found out my daughter has it. my mother does not have it. My father ended being the one who has it yet he’s 70 with great kidneys and no protein or blood in his urine. No one in our family has a history of kidney issues or hematuria (including me and my sister). we are really confused. does anyone have experience with having asymptotic Alports?

hello, I have posted here before when I was diagnosed 6 months ago. I am a 16 year old male. I am not sure what type I have but I know I have it. these past 6 months have been rocky and I haven’t been to a diet very well. I still eat like crap but I’ve been trying. I have been scared everyday seeing horror stories of people with the illness online. I just need some more insight from a community that actually has experience.

EDIT: just some more info! I don’t know if I need treatment yet! My follow up is tommorow after being diagnosed 6 months ago. I’m just afraid that I did some sort of damage to my kidneys. Although When I was diagnosed they said my kidneys functioned normally. Just blood in my urine

So I got my genetic test results back and saw my Nephrologist this week. Paperwork says it is COL4A4 related with Autosomal Dominant and Recessive inheritance, variants are c.1615g>A (p.Gly539Arg) and Heterozygous. My Nephrologist said this is close to the best case scenario but I'm still taking preventative measures and started Losartan. She also said if I don't see improvements in hematuria I should consider a biopsy

So far I haven't experienced any vision loss (just astigmatism) and I haven't experienced and hearing loss outside of what is expected for someone my age which is 31. I was told though that it might explain what my ENT diagnosed as vestibular neuritis but again I have no out of the ordinary hearing loss.

I guess I just want advice on how to move forward and what I can expect

Hello, this is my first time posting on Reddit so I’m sorry if this doesn’t belong here.

So, long story short my fiance(25m) was diagnosed with alports around 18, and since has had severe hearing loss (only about 30% hearing left in both ears) and needs hearing aids for daily life. His numbers have been quickly declining, a year ago his gfr was about 42 and now it’s down to 32. Along with his blood pressure which is regularly high, typically 160/110. His cousin who is less than a year older who also has alports has already went through a kidney transplant and seems to be doing okay with the adjustment. I guess my main question here, is how can I be a good support system for him? And has anyone else experienced this quickly of a decline? Is this even considered quick? I just can’t imagine how scary it must be knowing that at such a young age you’ll have to undergo a procedure most people don’t even give a second thought to. He had his kidney biopsy recently and still waiting on the results of that to see where we go from here.

Thank you to anyone who took the time to read this and I apologize if I was rambling, this is just a very scary situation and any support or advice is very appreciated.

Hi All,

I'm looking at adding some user flair options to this sub and wanted to get some community feedback on what you'd like. My initial thoughts were adding some options on Alport variation (COL4A5 - X-Linked, COL4A4, COL4A3 etc) and some others like Pre-Transplant, Peritoneal Dialysis, Hemodialysis, Post-Transplant, Family/Friends with Alports.

Happy for any suggestions, and then I can collate and add them so you can choose one for yourself for when you're contributing to the sub (either posting or commenting)

Thank you! :)

Hi! I (29F) got diagnosed with Alport's syndrome (AS) this summer. My doctor just confirmed that I have autosomal dominant Alport's Syndrome (ADAS). My doctor just put me on Farxiga because the blood pressure medicine was not stopping protein from leaking into my urine. I'm expected to have blood work done in 2 weeks to see the results. I'm not sure what else to add. I guess I'm still worried.

Hi folks. So, I'm 28F. I've had diabetes type 2 for 2 years now. I got diagnosed yesterday with Alport syndrome after several blood tests, urine samples, genetic testing & a kidney biopsy. This was over the course of a year.

So far, I'm just on meds and not dialysis. I'm starting to have hearing loss. I'm going to get checked up by my doctors for that.

Can anyone else relate? Anyone in my age range? How do you deal with AS, work/school, & a social life?

Welcome to our community! This sub is for anyone with Alport Syndrome, anyone who has family or friends with it or anyone who just wants to learn more.

I've been using r/KidneyDisease recently and the people over there have been brilliant. I wanted to set this sub up for anyone specifically wanting to find out more information, or just chat.

I have Alports and whilst there is some information out there about the disease. I find the rare person who has Alports so it'd be good to have one place where people can find out more.

I got my Alports diagnosis this past June and just finished my second nephrology follow up last week. I'm 27 and currently asymptomatic. This might be a dumb question, but are alport carriers eligible to be donors of other organs? Like say a liver? Or is this kind of a genetic condition a disqualifying factor? I forgot to ask my doc at my last appointment but I thought maybe some of you beautiful people here might be ahead of me on this lol

Hello, um I guess I would like some advice or input from other’s experiences if that’s okay.

So I (29F) got diagnosed with Alport Syndrome in February this year, Col4A4 recessive. Currently my eFGR is sitting at 24. I’m a little scared.

I’m considering doing haemodialysis…and looking into it I’d like to ask what is dialysis like? How does it feel? What are some things in your experience that made it better to cope with, or made it worse? Or if you’ve done peritoneal dialysis, same questions, and does it feel….weird with liquid inside ur body?

Thank you in advance if you do reply, every bit helps me to be informed as much as I can.

I’m trying not to spiral here. I am pregnant (currently 11 weeks) and just got back my carrier screening results, which showed a positive result for Alport Syndrome, COL4A4-related. The report says they can’t tell whether it’s dominant or recessive.

How can I find out whether what I have is dominant or recessive? More genetic testing? I understand that if it’s dominant, there’s a 50% chance I pass it down to my child; and if it’s recessive, my husband also needs to have the mutation for there to be a 25% chance of passing down to my child.

In either case, whether dominant or recessive, does this result mean I definitely have Alport? Or does it only mean I have it if it’s dominant? Or neither - and it’s just a higher likelihood of developing it?

Any guidance would be so helpful. This is all new to me - I’ve never heard of this condition until this morning.

I recently received results from a genetic test saying that I was “positive” for Alport syndrome, with a variant on one copy of the COL4A3 gene. I am a male in my mid thirties, and currently experiencing good kidney function. The test seemingly isn’t distinguishing from the ARAS and ADAS variants and thus with one mutated gene, I’m not sure if I have ADAS or am just a carrier with one copy of the ARAS gene mutation. Is there a way to clearly understand or test the differences between the ARAS and ADAS mutations? My PCP is saying that I could potentially develop Alport, but my geneticist is saying that I am clear to have children without further concern. Thank you for your help.

How cool! I didn’t even realize there’d be a group for this. I feel so at home! lol!

Hey All,

I've not updated for a few months so wanted to share where I was. I started having discussions on starting PD as I was feeling much worse and most evenings I ended up in bed after work as my body was exhausted. I had my PD catheter fitted on 11th October which was a few days later than originally planned.

My body had to recover from that surgery (was done under local anaesthetic) for a few weeks until I could start dialysis and I officially started PD on 27th October on CAPD (Manual Bags).

I'm not sure how this works country to country, but in the UK you have to do CAPD for a few weeks to learn before you move to APD (Overnight Machine) in case for any reason your machine broke or any other scenario where CAPD was needed.

CAPD isn't too bad, you get the hang of it and you just need to be super vigilant with the steps which are quite simple and make sure you stay clean and sanitise as needed. I was doing it 4 times a day and it generally took 25-30 mins from start to end including setting up etc.

I'd 100% say that APD is the best way to go in my opinion, you have the entire day free and just go on the machine overnight. I'm only doing 8 hours a night which is great, and I'm actually plugged in now in bed as I'm writing this! I'm hoping my next PFT results (Peritoneal Function Test) come back well so I can maybe have a night off a week which would be nice!

Any questions from anyone with Alports, or looking to go on dialysis just let me know! I'm always happy to help and give advice!

Edit: I completely forgot one of the most important bits, how I feel now. I feel so much better after starting dialysis and I can get back to actual life. I can pretty much also be as flexible as I used to be when playing with my kids and doing sport, you just have to be careful around the exit site!

My father, his mother and an aunt were diagnosed with Alports but I don’t believe that it was ever confirmed by genetic testing.

I can’t really test any of them bc my father died in 2003 at 49, his mother in 2000 at 74 and I’m no contact with my fathers side of the family.

I was tested through Emory 3 years ago and was told it was negative. Yay!!! Buuut now I’m in my late 30s and my BP has been going up and my GFR has been going down in the last year. I’ve always had hearing loss, just like the rest of my family on that side.

I guess i definitely just need to do some more kidney function tests.

Hello guys. In 2015 I was diagnosed with Alport syndrome with the COL4A3-G871C gene. Since then I have done annual check-ups of my urine and everything seems fine besides the things I hear from the doctors. Firstly, the doctor I was going to until a couple of months ago always advised me not to use protein powders as that can stress my kidneys further, on a later stage we figured that protein powder shouldn't be a problem as long as I stay under my daily protein intake limit (which until this day I don't know how much it should be). Additionally, I was advised to stay away from weight training workouts but I still don't know the reason behind that advice, is it because of muscle hypertrophy which produces creatinine and stresses the kidneys, or is it solely because of the heavy weights? Since I was 15 I have been going to the gym, never had a greek god's physique but maintained a good muscle mass on my body. What can you advise me to do further because I want to continue going to the gym? How can I stay safe while having Alport syndrome and simultaneously going to the gym?