ONCE UPON A GENE - EPISODE 046 - A Family Plagued with Rare Genetic Disease, Adrenoleukodystrophy with Diane Kane
If you haven’t listened to Episode 38, Rare Like Us with Taylor Kane, go back and listen to that episode here. Taylor Kane's mom, Diane Kane, had two toddlers when her husband was suddenly diagnosed with a rare disorder called Adrenoleukodystrophy (ALD). I'm in awe of her strength, grit and grace as a caregiver to her husband John, all while being a new mom, working and preparing for all the ways ALD would disrupt her family and change it forever.
EPISODE HIGHLIGHTS
What is ALD and what are the symptoms?
My husband was diagnosed with Adrenoleukodystrophy (ALD) a few years after we got married and he eventually passed away from it. ALD is a rare hereditary disease that we later found ran in his family. He also had a twin brother who later passed away as well. A couple years after we were married, I noticed John started acting differently, started leaving things around when he had always been neat and organized, his personality started changing, he'd stay up late and go into work late. There were a few times he said he was going to work, I'd call and he wasn't there. The symptoms came on slowly and given that I was pregnant and we had one young child, I thought it was stress or a crisis of some sort. We started going to marriage counseling where the counselor must have noticed something and suggested he get some tests done. He got a brain scan and it showed that he had ALD.
What happened after the Adrenoleukodystrophy (ALD) diagnosis?
The radiologist told us that ALD was a rare disease and referred us to a specialist. We saw a neurologist at the Kennedy Krieger Institute, a hospital that specializes in rare diseases. I researched what I could and everything I read said there was no cure and that nothing could be done. When we spoke to the neurologist, he confirmed my research- that there was no treatment. The neurologist told John he has 2 to 3 years to live and to go home and enjoy the time he had left.
How were you able to manage and cope with the diagnosis and life at that time?
At first, it was so hard to grasp. I went about things as normally as I could and kept things as normal as I could for my kids. John went on the best he could as well. At the time, it was hard to tell how much he understood. I had a feeling that he didn't get it. He went to work, went out with friends and carried on with life doing his normal things. I had been working part time, but I worried he may lose his job so I hired a nanny and increased my hours at work to prepare for what may happen next. As my husband's condition deteriorated, it became hard to care for him and the kids, but with a lot of help I was able to manage everything and I couldn't have done it without that help.
What wisdom can you share with other caregivers?
Accept help from people and don't feel guilty about it. It's good to take time for yourself and get away when you can, even if just for a few minutes. The people who stepped up to help me weren't who I thought they'd be in the beginning. You learn who your true friends are and they may be people you don't know. If you're in a caregiver role, advocate for yourself, take time for yourself and accept help.
LINKS AND RESOURCES MENTIONED
EPISODE 038 - Rare Like Us with Taylor Kane
A RARE Patient Advocacy (un)Summit
TUNE INTO THE ONCE UPON A GENE PODCAST
CONNECT WITH EFFIE PARKS