Family Stories

Sharon's Story

My brother, Paul, and I were diagnosed with Familial Nephritis or Hematuria when we were around 4 years old. For me, this meant regular doctor’s visits where they monitored my bodily fluids for protein and creatinine. For my brother, this meant kidney failure at 16 years old, dialysis for two years going 3 times a week for 3 hours, and two kidney transplants. Along with all of that came a tremendous amount of side effects – and, unfortunately, I don’t think he missed one of them. He passed away at the age of 38 years old and the official cause was post-transplant proliferative lymphoma – after having his second transplanted kidney for 19 years!

At the same time my brother was battling lymphoma, two of my children (both boys) were diagnosed with Alport Syndrome through skin biopsies. We were grateful we finally had an answer but devastated as well knowing that they had a 95% chance of developing kidney failure. We now knew that I was the carrier and had passed this kidney disease on to them through my X chromosome. My brother has two girls who are also carriers.

What do you do when you get news like this? You try to educate yourself, you look for support resources, and you try to connect with other people that are dealing with the same thing. If you are reading this you understand my disappointment that there was no support organization for Alport Syndrome. There was a lot of work and support coming out of the University of Utah (Dr. Atkins) but that had stopped by the time I was looking for help. There was also a lot of information and support for general kidney diseases and issues on the Internet as well as a lot of information about Alport Syndrome – it was just in too many places. I felt the need to centralize the information and resources for Alport Syndrome so we could form a community that was dedicated to helping families cope with this disease. I was lucky enough to find some other people who felt the same way and who were willing to do this with me. I feel very hopeful that we can make a difference and affect some positive changes for Alport families.

On a personal note, my boys are doing well at this time. Joseph is 11 years old and Max is 10 years old and they have full kidney function. They are both on ACE and/or ARBs to control proteinuria. I also have a daughter, Michelle, and she is free from the disease – she was lucky enough to receive my “good” X chromosome.

My brother’s daughters, Izabella and Chloe, are doing great – they are wonderful girls and have a great Mom who is strong for all of them. I look forward to the day that our children will not have to worry about the effects of Alport Syndrome on their children. I am committed to accomplishing this through this Foundation and hope many others will join me in this fight.

Thank you for reading my story,
Sharon

Vint’s Story

I’ve grown up with Alport Syndrome (hereafter referred to as AS) all my life. I should clarify that. Growing up I knew that there was some kidney thing in the family that my grandfather had died from but I didn’t know a lot about it.

When starting my first professional job I was denied for life insurance. After asking I was told that my lab work showed some kind of kidney disease. I called my mom that night and said, “What is this kidney thing I have?” Looking back now it’s somewhat humorous, and scary, how casual I was about it. I just did not know what AS was or the impact it would have on my life.

Turns out I was not the only family member with AS. Of the 12 male cousins in my family that could have AS, 5 of us have AS. As of this writing (April 2007) 3 of us have had successful transplants and the other 2 are still waiting the onset of kidney failure. Besides the blood in the urine that a lab test would always identify I was healthy, leading a normal active life.

Shortly after our marriage my wife wondered why I had to have the volume on the TV so loud. After 2 years I finally agreed that I it was louder than it had been and agreed to be tested. I’ve worn hearing aids ever since. I was quite surprised by how much I had been missing. In my family hearing loss happens about the same age for all of us so each family reunion includes a section where we swap stories about what works and what doesn’t. Not that exciting for everyone else, but it’s been helpful for me.
My grandfather died one month shy of his 32nd birthday. I knew that he suffered immensely for some time before that. Through regular visits with my Nephrologist and lab tests at about my 30th birthday the signs became clear that my kidneys were beginning to fail. In an incredibly generous offer all of my siblings agreed to be tested to see if they were a compatible donor. One of my sisters was the best match and on November 5th, 1998 she donated a kidney to me in a surgery that lasted 4 –5 hours. This surgery was completed by the wonderful staff at LDS Hospital in Salt Lake City, Utah.

Recovery was quick. I was home within 5 days and back to work within 2 and ½ weeks. The body truly is an amazing thing!

My life returned to normal. That is if you consider taking 30+ pills every day and regular lab tests normal. I got back into my daily routine. I became much more familiar with the work of the Hereditary Nephritis Foundation and I joined Delphi Forums Alport Forum.

During the winter of 2003 my body began to reject my transplanted kidney. I was hospitalized numerous times. In March the doctor informed me that I could start dialysis anytime. On April 11 I was admitted to Utah Valley Regional Medical Center in Provo, Utah and began hemodialysis.

This was an incredibly traumatic experience. First, I lost nearly 40 pounds in 11 days. I came very close to dying, mostly because I felt so bad I wouldn’t eat. (When I was released I was eating saltine crackers and broth - that was all my stomach would handle.) Second, I had the mistaken belief that dialysis would make me feel good. It did not! (I should note that for some people it does, but I’m not one of those). I thought that a machine cleaning my blood would make me feel clean. Instead I felt washed out.

I became a very grouchy and irritable person to live with. After about 10 months, one of the dialysis nurses suggested I would be a good candidate for peritoneal dialysis. By this time I was willing to consider any possible changes. Peritoneal dialysis allowed me some control over my schedule. I did feel better, but still not wonderful. My health and emotions were on a constant roller coaster.

Luckily my work was incredibly accommodating of my schedule. I was able to stay employed throughout all this time. I was also able to continue with one of my hobbies, which is Boy Scouting. I was able as Scoutmaster to attend a weeklong summer camp in the mountains of central Utah while doing peritoneal dialysis.

The town where we lived was 3 hours from my doctor, and the hospital he often enrolled me in. When the chance came to take a job closer to the doctor, hospital, and transplant center we took it. Shortly after this on December 16th, 2004 I received a call at work telling me to be at the University of Utah Hospital as soon as possible. At three that afternoon I was in surgery and received my 2nd kidney transplant.

When I awoke from the surgery I immediately knew that things were better. I felt good. I felt so good that I was completely wired for about 24 hours. I could not sleep. I could not get over how good I felt. Those feelings did not leave. I remember thinking repeatedly that I’d forgotten things could feel like this. It was electrifying!

Anyone who has been on dialysis knows that the diet is very strict. I had learned through hard experience that it is worth it to follow the diet. However, within 2 days of my surgery I ate some of everything that had been prohibited while on dialysis – pickles, tomatoes, orange juice, bananas, potatoes, and chips and salsa. It was wonderful.

One of the negative things about those 20 months of dialysis was that they had been quite hard on my family, especially on my wife. For almost 2 years I was not available to give her any kind of emotional support. This time was not physically trying for her, but it was very emotionally and psychologically trying. Not only was she dealing with me and all my aches, pains, and my grumblings, but also with the fear that I might die and she would be left to raise our kids on her own. She had had to build another emotional support system through some friends.

After moving to another town (the friends were now 3 hours away) and the transplant, we found that we had grown apart. It took many heart to heart conversations, some weekend getaways, and lots of validation for our relationship to rebuild. My kids did better with all of this, but that was because my wife tried very hard to make life seem normal as possible for them. My wife is a saint!

Today we do not talk much about those 20 months on dialysis. They really are something that we’ve all chosen not to remember. (There are parts I really don’t remember.) We dread my new kidney being rejected and having to go through dialysis again. (Again, I must note, that others have had very different experiences with dialysis than mine. Please don’t assume that you will go through what I did.)

It was during this recovery time and redevelopment of my relationships with my family that I became determined to do something about AS. I renewed my contact with the Alport Forum. I was dismayed to discover that the Hereditary Nephritis Foundation had disbanded due to lack of support. (Dr. Curt Atkin’s death in 2000 had not helped.)

I met with Kay Johnson, Dr. Joyce Denison, and Dr. Martin Gregory of the University of Utah Alport Studies, who had been involved with the Foundation for many years to see what could be done. I posted notes on the Alport Forum seeking others who were interested in doing something. The history of the Alport Syndrome Foundation can be found elsewhere, but through these initial discussions some ideas grew. About a year later Sharon Lagas and Margaret Blue called and asked what my plans were for a renewed foundation. From that phone call all of this has grown.

My Alport story has not ended. I expect that before I die I will undergo dialysis at least one more time. When that happens I hope that another transplant will also be in my future. More important to me is that when my daughter has children (if she chooses to) there is a 50/50 chance that any of her kids will have the AS gene. Before that day comes I want to see the same leaps and advances in medical science and the treatment of AS that exist between my grandfather’s death and my own kidney failure. A worthy goal that if nothing else will keep me busy.

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Joy’s Story

When I was a little girl, going to the pediatrician always meant peeing in a cup and a pack of M&Ms when we had to get shots.  I remember one visit very clearly when I was about 5, putting my pee up in the window next to all the other cups.  It had my name in black letters written across the outside and it looked different than all the other cups.  I noticed that everyone else’s pee was a set of different degrees of the same yellow and mine was more lime-yellow.  My pediatrician, who I felt was more a father figure than a doctor, said simply that I had magic pee and only really special girls could have magic pee.

The next time I knew anything was different about me was on my 18th birthday when my mom told me I had a kidney disease known as “familial nephropathy.”  She assured me that it wasn’t at all related to how my uncle’s kidneys failed – “his failed from Strep throat that turned into Scarlet Fever and had gone to his kidneys.” 

I went to college the next year and took my health into my own hands.  A doctor at the student health center tried his best to monitor my health by consulting with an outside Nephrologist.  He asked me if I was a steak and potatoes girl, I told him I was vegetarian, he said “good!” and explained that my kidneys were like a broken filter and the larger the protein, the harder the damage.  I took it upon myself not to consume anything that I knew could be hard on my kidneys, no Advil or Ibuprofen, no NSAIDs, no alcohol, no carbonation, no caffeine, no meat, etc.  After several extremely difficult blood draws, I decided not to continue seeing the doctor.

When I was 27 years old, I got the fateful call – my sister was in the hospital with about 90% blood loss and they weren’t sure she was going to make it, she was getting another blood transfusion and they were trying to stabilize her.  Her kidneys had failed at the age of 32.  My sister and I talked briefly while she was in the hospital, and it was enough for us to say “we love Uncle Dave, but we don’t want to live his life.”  My cousin’s friend was a match and donated her kidney to my sister who had to endure about 20 months of dialysis and several pre and post-transplant complications.  Today, she and her kidney are doing great.

My uncle and I shared a birthday; I was born on his 30th.  He was still on dialysis at the time that my sister’s kidneys failed, and had cheated death on so many different occasions it was ridiculous.  My grandparents would take him to Mexico for some sort of injection into his kidneys (I haven’t a clue what).  Once he was out of college, he was on welfare and dialysis living in a trailer park in Lomita, in a trailer that he couldn’t own (you must have less than $2,000 in assets to remain on welfare).  With no ability to work and no possibility for a transplant (they considered him non-eligible); he had no choice but to remain on welfare for medical treatment.  Dialysis was a horrendous ordeal for Dave, he felt tired and awful the next day, and dialysis itself always took a long time because he never followed the dialysis diet.  Our family didn’t even know there was a diet until my sister’s kidneys failed.  His story could take another 3 pages, so I’ll summarize it to say that my loving, wonderful Uncle Dave passed away at age 63 after more than 40 years of dialysis. My birthday has hardly been worth celebrating since.

After my sister’s kidneys failed, I went in for a kidney biopsy.  I had the only healthy kidneys in the family to try and confirm our “familial nephropathy” (as it had been called since I was diagnosed at the age of 3) to be Alport Syndrome.  My first Nephrologist had finally convinced me to overcome my tremendous fear of needles.  She was fairly certain from our family history that I had X-linked Alport syndrome.

The history we had from my parents on my family notes:  a great aunt died of Bright’s disease, another great aunt died in labor from kidney failure, my grandmother had Eclampsia during her second pregnancy and had a forced hysterectomy to prevent future children, my grandfather had nephritis as a boy, and my uncle had renal failure as a teen.  This was all on my mother’s side; on my father’s side, the notes read “no history of kidney problems.”  The biopsy confirmed the diagnosis of Alport syndrome, but did not specify the type. 

When my husband (then fiancé) and I asked about my ability to have children and whether or not we should have children, this angel Nephrologist told me “you’re a smart couple of kids, I think you’ll figure it out.  But as far as your kidneys are concerned, you look good, go have ten children and I’ll see you in 6 months.”  We went to my parent’s house for dinner to let them know what the news was, and to reiterate what my sister and I had been trying to get across, Uncle Dave had the SAME kidney issue as she and I had.  We also told her what it meant for our future children (to the extent we understood it at the time).  She replied with “if I had any idea that I could pass this on to you girls, I’d have never had you.”  Of course she is glad she did, but it was that moment that sealed the deal for me.  I knew no matter what happened, I wanted to try and have children no matter what “X” they may get from me.  In my mind, I kind of liked myself, I loved my uncle (who was still alive at the time), and my sister wasn’t all THAT bad…. So how could anyone wish for a world without us in it?

So here I am at the ripe age of 36, I have two beautiful children, thus far – Megan is 3 years old (so far her first labs have been clean, we’re cautiously hopeful) and Jesse is 2 months old (it makes me cry to think this beautiful boy might have my bad “X”) but I’m counting on God to make the right call for us.

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