Patient Stories: Embracing Alport syndrome

Patient Stories: Embracing Alport syndrome

Because Alport syndrome nearly always leads to kidney failure and often has other serious symptoms, such as severe hearing loss, receiving a diagnosis is often difficult. Meet two people who turned their diagnosis into an opportunity to help others cope with the challenges of living with Alport syndrome.

Many in our community have met Joy through the ASF Facebook page and support group. She is passionate about educating patients and families dealing with this disease. She shares how she found her place in our community.

Joy’s Story
I’ve heard it often – Alport syndrome is ‘the worst’. “How could anyone want to have a child with Alport syndrome?” Or my favorite “I don’t know how you do it; I couldn’t handle the guilt.”

I like to think that having a diagnosis of Alport syndrome helps our family practice life’s challenges. When the time comes for myself or my son to start dialysis, we’ll be armed with knowledge, resources, love, and a network of support.

Yes, I cried when I was definitively diagnosed in 2009 (my third diagnosis) – and I sobbed two months later when we confirmed my 12-month old son had the same mutation. Then I got back on the phone with ASF president Sharon Lagas and started figuring out where I fit into the Foundation.

In 2010, I started the ASF Facebook site; in Fall 2014, I started the ASF support group. I’ve been a part of every annual campaign we’ve held. Our family has endured a lot of trials over the past 7 years, but life continues and the need to help others navigate their experiences with Alport syndrome continues. It helps to know I am educating others along the way in hopes that they too can find the love, resources and the hope that they need.

In our family, while at first facing the truth about Alport syndrome was difficult for our family, it has transformed into an enormous blessing. Our family has a strong sense of purpose and a united sense of duty to help all families with Alport syndrome, not just our own. I don’t hide my efforts from my kids – I tell them what I am doing. At dinner we pray for families that I encounter and I pray for those I have yet to meet.

Alport syndrome has not ruined my life. I refused to let it. Yes, it has presented choices for me that others will not face, and sometimes it can be extremely difficult to face those choices. It may take months or years to get to the other side. But I am grateful to know what they are or might be some day and why I am facing them. I don’t hate my genes; they are the parts of me that complete the sum. I accept my genes as they are – uniquely formed.

 

Dr. Todd Landsberg received his Alport syndrome diagnosis as a child. His personal experiences guided his professional career decision and continue to guide him in his practice and as a volunteer with ASF as he shares professional knowledge, encouragement and hope with patients and families facing hearing loss.

Todd’s Story
Alport syndrome is a blessing?

On the face of it, that’s a pretty ridiculous statement. In my case, however, in some ways it has been because it steered me into the audiology profession that I dearly love and one that dramatically has a major influence on people.

In about the third grade I was diagnosed with Alport syndrome. In my case it meant my kidneys did not function well and it greatly affected my hearing.  I needed hearing aids, and after working with an audiologist and seeing how he impacted my life and others, my career path was set.

Sure there have been bumps along the road.  While in college I had a kidney transplant and my father was the donor.  Dad and I were always close, but this took it to a whole new level. With my mom and sister always by my side our family has a special bond.

Today, thanks to the audiologist who helped me as a youth I became an audiologist. It is a profession where it is not unusual to fit a person with hearing aids and have him/her literally cry for joy in my office. It is tough to top that wonderful feeling.

In reality, I would not wish Alport syndrome on anyone. But in my case I genuinely feel some good has come from it in my life. I see it nearly every day in the eyes—and ears—of my patients.

 

ASF is grateful for so many people like Joy and Dr. Landsberg who find ways to use their family’s Alport syndrome diagnosis to support others who are on the same path. Many offer comfort and share experiences to new patients or those with questions on the support group or through one-on-one contacts. Everyone has something to share and there are many ways to help.

If you would like to volunteer with ASF for a special event or on an ongoing basis, please contact us at [email protected].

Both Joy and Dr. Landsberg will be at the Los Angeles Alport Patient Meeting


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