Boy with Alport Syndrome Wins Award for his Rare Disease Advocacy

Grant Bonebrake was diagnosed with Alport syndrome at age 12. Since then, he has gone on to advocate for not only Alport syndrome patients, but the rare disease community as a whole. Now, at age 18, the EveryLife Foundation for Rare Diseases has awarded him the Rare Disease Legislative Advocates’ RareVoice “Abbey” Award for Federal or State Advocacy by a Teenager.

About Alport Syndrome

Alport syndrome is a rare, genetic condition that is characterized by the progressive loss of kidney function, hearing loss, and visual abnormalities. Kidney symptoms, including hypertension, swelling, proteinuria, and blood in the urine, eventually lead to end-stage renal disease. Sensorineural hearing loss is another symptom, as are abnormal coloration of the retinas and misshapen lenses. However, affected individuals rarely experience vision loss. These symptoms are the result of a mutation in either the COL4A3, COL4A4, or COL4A5 gene. COL4A5 is the most common cause of Alport syndrome, and it is inherited in an X-linked pattern. The other two genes are passed down in an autosomal recessive pattern. They are all necessary in the production of type IV collagen, which allows for normal kidney function and the proper development of the ears and eyes. When one of these genes is mutated, the collagen cannot function normally, therefore leading to the characteristic symptoms of the syndrome. There is no cure for this condition; treatment is symptomatic and focuses on preventing the loss of kidney function.

Grant’s Story

Grant was diagnosed with Alport syndrome after a failed hearing test raised suspicion. After countless internet searches and research, his mother discovered Alport syndrome. This led to the official diagnosis, which happened on Grant’s 12th birthday after a biopsy. It was this diagnosis that pushed him towards rare disease advocacy and awareness.

He immediately became involved with the Alport Syndrome Foundation and similar organizations, going to meetings, connecting with other rare disease patients, and talking to people who understood what it’s like to live with a rare disease. Grant speaks of the stark change that his diagnosis brought. He went from a very active kid to someone who had to focus on hearing aids, medications, and doctor appointments. It was comforting to have others to turn to.

In fact, the rare disease patients he met through the years inspired him to make change. To do so, he has spent the past six years of his life advocating for Alport syndrome and legislative change. At age 14, the National Kidney Foundation brought him to Capitol Hill as a guest, and he was able to address politicians directly. One of the major issues he focused on was the Living Donor Protection Act, which prevents insurance issues stopping one from donating an organ. It also classifies the recovery process of organ transplantation as a serious health condition that merits medical leave.

Grant did not stop there. In his junior year, he spoke to various levels of legislators after being accepted to the Young Adult Representatives of Rare Disease Legislation program. He doesn’t want to stop there, either. His hope is to continue in advocacy and work towards higher positions in non-profits, such as the National Kidney Foundation. Winning the Disease Legislative Advocates’ RareVoice “Abbey” Award for Federal or State Advocacy by a Teenager is a big step in the right direction.

You can read Grant’s full story here.

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