From Mom to Lobbyist

On March 6, 1998 my 5 month old son Max was diagnosed with a fatal and progressive brain disease called Canavan. I have written extensively about many of the things we as parents encounter and experience when our children are born with a rare, or in my son’s case ultra-rare disease. Parents are often thrown into the role of nurse, physical therapist, and patient’s advocate before the full weight of the diagnosis even settles in. There is really no way to prepare for these new duties. We must learn quickly and on the fly because our child’s life might depend on how we adapt to this new life.

On the day of his diagnosis Max was given one to four years to live. That was the day I decided that I would never give up my child without a fight. I didn’t know what that fight would entail, but I was determined to do everything humanly possible to save my baby.

One of the most difficult aspects of receiving a diagnosis of Canavan, or any rare disease is that no one has heard of it. Oftentimes there is no unified or organized effort to develop treatment options or discover the cure. If you're a parent trying to save the life of your child this is another burden that falls on your shoulders, so out of necessity I created a charitable organization called Canavan Research Illinois to raise money for medical research. Since Canavan is a progressive disease I needed to learn quickly. I tried to find the most effective and efficient ways to increase awareness and raise funding to advance research that could help my son, and all the children living with Canavan disease. 

I researched other rare diseases and spoke with people who had been successful in helping their own children. I looked carefully at the conditions that already had treatment options. It was clear to me that the most successful efforts were parent driven campaigns. This didn’t surprise me because I knew firsthand that there was no one in the world who was going to fight for the life of my child as hard as me. I realized I would require the help of my government, and that I would need to create an organized and targeted campaign because there was no time to waste; I needed to become a lobbyist.

Lobbying is defined by Wikipedia as “the act of attempting to influence the actions, policies, or decisions of officials in a government, most often legislators or members of regulatory agencies.”

Lobbying was something that I knew very little about, and had zero experience with. I took the definition literally and began my odyssey to influence anyone who could help save my son. Lobbying is a verb, an action word, there is nothing passive about it. I went to work. I started in my own town by meeting with the Mayor. Next I contacted every legislator in Illinois from the state to federal level and brought Max in to systematically meet with each and every one of them. I found out which states had children with Canavan disease living in them and urged those families to become involved as well, if they were unable to help I contacted their Senators and Congressman myself. My plea was simple; I wanted to save my child, and all children living with Canavan disease and the federal government needed to step in and help pay for the clinical trial that until now was funded by families and small charities like Canavan Research Illinois. We could no longer shoulder this enormous financial burden alone. Our children were citizens of this country they deserved access to healthcare like anyone with a more common disease. If there was no cure we needed money to find a cure, or at least treatments to help slow down progression of the disease. Everyone deserves to have some hope and all children should be to be told that there is at least something that can be done for them.

At this time Congressman Phil Crane from Illinois was the most senior member of Congress, and he knew everyone on Capitol Hill. I had been faxing stacks of paper to his secretary for weeks. I sent her newspaper articles about Max, pictures of Max and letter upon letter requesting that the Congressman meet with us. One day I received a call saying “the boss wants to meet you”; this phone call and meeting propelled us into a space where I could finally begin to make a real difference for the children. Max and I were an unstoppable team, and we were extremely fortunate to have captured the ear and the heart of the late Phil Crane. He took us under his wing because he knew I was a desperate young mother just trying to save her child, and like everyone else he fell in love with Maxie. My beautiful angelic baby boy with the electric blue eyes and pile of golden curls was hard to resist.

I had the concern, support and personal attention of someone who had an extensive and quite impressive network of connections in Washington DC, and he was willing and able to leverage all those connections to help save Max. Max and I had finally made an impact on someone influential enough to open the right doors for us. Someone who believed in what we were trying to do, wanted to help and had the ability to make things happen. Congressman Crane knew someone on virtually every committee in DC and his endorsement of my mission also carried a lot of weight in Illinois. We soon had the unrelenting support and resources of Congressman Mark Kirk, and Senators Peter Fitzgerald and Dick Durbin. They all pledged to help in any way they could, and every time we asked they were there for us.

With all of the Illinois legislators on our side Max and I were able to make our way through the underground tunnels of Capitol Hill with a congressional aid as our private escort -courtesy of Max’s new ally, Phil Crane. We met with key decision makers in the House, Senate, Department of Health and Human Services, NIH, NINDS and the FDA. I told our story over and over and convinced everyone we met that funding the cure for Canavan was a worthy and necessary endeavor.

During our testimony before Congress Ralph Regula asked me to stand up, he began to explain to everyone in the room that before reading the letter I sent him, he had never even heard of Canavan disease -and he was heading an appropriations committee making decisions on what diseases would receive funding. We asked that funding be allocated for Canavan disease, but we also needed to make the people who appropriate government funds aware that funding should be increased for all rare diseases. There were, and still are, too many rare diseases chasing too few dollars. I explained to key members of Congress that research is not done in a vacuum and when you study a brain disease it can lead to advancements in other more common diseases.

Sometimes ultra-rare diseases caused by a single defective gene make great models for other much more common diseases such as ALS, Alzheimer’s and Parkinson’s. As a show of support for these other diseases I agreed to deliver a petition for the advancement of stem cell research put together by the ALS and Parkison’s communities. They had read about my efforts and asked if I would personally deliver the petition to Senator Arlen Specter. I brought the 150 page document with 13,000 signatures with me in my carry on during my flight from Chicago to make sure it was safe.

We ultimately received a three million dollar grant to begin the Phase I Safety trial for Canavan disease. Dozens of children including Max received gene therapy in three different trials. Safety data from our children’s trial was later used to help patients suffering from Parkinson’s disease by fast tracking their trial using the same vector, because science does not happen in a vacuum!

The Canavan campaign started before there was the strong and unified effort to increase funding for rare disease research that we have today. We were on our own and pioneers of this effort. We followed those few who went before us and helped clear a path for many others to follow.

Maxie ended up receiving gene therapy twice, using a different vector for each surgery. He turned nineteen years old on October 9th, 2016. Canavan Research Illinois has been funding the development of a new and much improved vector. CRI is currently the world’s leading charitable organization in the effort to treat and cure Canavan disease. We are impatiently awaiting another clinical trial, if things move quickly enough and Max remains healthy he could make history by becoming the first person in the world to receive gene therapy three times, with three different vectors. When I began this journey so long ago I could never have predicted that nineteen years later Max would still be here. This was no accident and we owe his life to everyone who helped us, from his doctors and therapists, to the scientists who believed in their research enough to stay with it through every obstacle. And we are eternally grateful to our legislators for believing that Max and all the children with Canavan disease are valuable members of this society who are worth saving.