Please Don't Forget About 'Ultra-Rare' Diseases on Rare Disease Day

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With Rare Disease Day approaching there is an important distinction that needs to be made because “rare disease” does not give an accurate description of Canavan disease. Canavan has recently and more appropriately been designated as an “ultra-rare disease.”

While I fully support and understand the need to make people aware of rare diseases I also think it is critical to advance this awareness to each individual and unique disease. A rare disease could affect 200,000 people in the U.S., but Canavan affects only about 500 children and young adults in the entire world.

The people who want to discover the cure for Canavan disease are the families it affects. Our research can and has already been applied to other much more common rare diseases such as Parkinson’s disease and Alzheimer’s disease, but original research was funded, advanced and pioneered by the families living with Canavan disease.

Our children need someone fighting for them. I prefer to primarily focus on advancing disease-specific research and a more narrow goal of targeting awareness to help children born with Canavan.

If you want to understand more about what it feels like to receive a diagnosis of Canavan disease try to imagine any other illness you are familiar with though your own experience or that of a friend or family member. Now imagine the baby who was just diagnosed with Canavan disease is your own child. When you are given the diagnosis you will also be told there is really not much you can do to help your child because there is no cure. It’s a rare, fatal, and progressive brain disease that will ultimately deteriorate your child’s motor function, including the most primitive and automatic functions such as respiration. I was told to take my baby home and look for a nursing home.

Imagine a disease so rare that no one has even heard of it. So when you decide to share this news with your friends and family you also need to give a detailed description of the diagnosis and prognosis. There is no way to accurately describe what it feels like to learn your baby has been born with Canavan disease. I can’t do that by posting a meme about rare diseases. I can’t even begin to describe the absolute destruction of hope. And I will not try to attempt it here. I do want people to understand there are diseases so rare that they are unheard of by the general population.

If you know someone affected by Canavan disease please let them know if you are interested in learning more about the disease, what they are going through on a daily basis, or how you can help. Or message me. I have devoted my life to helping discover the cure for Canavan disease. My son is 19 and a half years old and still doing well, largely in part by the research I have been fighting for and funding for the past 19 years when I received the news of Max’s diagnosis. I never gave up hope, and my mission is to give that same hope to as many other families as possible.

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Thinkstock photo by wild pixel

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When I Realized Everything I Thought I Knew About Ventilators Was Wrong

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“We might need to intubate.”

There are few words that I have been anticipating and fearing as much as these. Even though my son, Maxie, was born with Canavan disease and is 19 years old, he has enjoyed extremely good health with only about three respiratory illnesses in his entire life.

This is not by accident.

We have vigorously and enthusiastically taken every possible preventative measure with his care. He’s very fortunate to have an amazing pulmonologist and respiratory therapist who suggested a daily maintenance regime of inhalers, nebulizers and percussion vest treatments twice a day for the past 13 years. It’s been a true labor of love keeping Maxie healthy, but the alternative is much worse.

We’ve always known that intubation could be tricky for Max, and if he was ever required to be placed on a ventilator, we knew the extubation would be far trickier.

On November 6 at about 10 a.m., my worst fears came true.

When we left the house, he had a fever, and within the hour of arriving at the ER, Maxie had stopped fighting and his body temperature was below 95 degrees. He was in full respiratory failure and septic shock. The doctor told me that in order to save his life he would need to intubated and placed on a ventilator.

When the doctor asked about advanced directives, I said, “Maxie wants to be here,” and we agreed that “all heroic measures” would be taken to give Max a fighting chance. The doctor said, “If he wants to fight, then we’re here to fight with him.”

This ultimately turned into more than a month in intensive care, one unsuccessful extubation, a second intubation and multiple times where my son almost lost his battle. I was fortunate to have many parents contact me with success stories of relatively long stints on a ventilator following a successful extubation and a full recovery. I can only hope to have the same story to share with other families one day.

The ventilator and breathing tube were nothing like I imagined it would be. My child was able to get help breathing while his body recovered.

young man on a ventilator in the hospital

This was an easy decision to make at the time, but the anticipation and grief were largely due to my own preconceived notions and some misconceptions.

In this case, it was a lifesaving measure that allowed my son to come home. His recovery astounded even the seasoned critical care team who may have been looking more at his diagnosis of Canavan disease than his will to live. I think the ER doctor summed it up perfectly when he told me that if Max wants to fight then let’s give him everything we can to help him win.

I’m sharing this in the hopes that it can help another parent when they might have to make the same difficult decision. I was happy to discover that everything I thought I knew about ventilators was wrong. I know there are many instances where the outcome won’t be the same as what we experienced, but I don’t think I fully appreciated the help this technology would offer my son and aid in his recovery because it was always presented to me as such a last resort and terrible option, and that wasn’t my experience at all.

This piece of equipment saved my child, and he’s even smiling in the picture I took above, breathing tube and all.

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How I Find My Place as a Mom Whose Child Is Losing 'the Most Basic Motor Function'

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I was recently told my 19-year-old son would need a cough assist machine. At first I didn’t think much about it, but then it hit me and I felt the meaning in every cell of my being. As I reflected back his day of diagnosis, the air rushed from my lungs and I felt my heart being ripped from my chest all over again. Those words, “He’ll lose even the most basic motor function,” rang in my ears.

I can recall every detail of first learning about Max’s diagnosis so clearly that even 18 and a half years later I have a visceral reaction to anything resembling news of regression in my child.

“The most basic motor function” in later stages of neurodegenerative disease has absolutely nothing to do with walking, talking or even eating. What it actually refers to is the most primitive of all motor function: breathing, swallowing and the gag reflex that protects our airways. These primal functions were set long ago deep within the brain stem. They are the most basic and primitive respiratory functions that keep us alive.

When the doctor tried to explain that Max would lose even the most basic motor function due to Canavan diseasethis is what he was referring to. It hit me all at once, and now those words suddenly have new real meaning to me.

I did a mental replay and realized Max hasn’t been coughing lately, and he doesn’t seem to have a gag reflex anymore. I don’t know how or when it happened, probably so gradually that I didn’t even notice. Just like every other lost skill, one day we look back and realize it’s gone. When your child is profoundly disabled every little thing they can do is critically important. And sometimes the loss is so gradual it isn’t even obvious for months. In this case I learned it isn’t an issue with brain function but rather pinched nerves in his neck, but the effect on his health remains the same.

So how do I find a place to exist and live with such a cruel disease that is slowly affecting my child’s most primitive motor function like breathing?

I exist somewhere between being the mother of all dragon moms, the textbook cliché of a hyper vigilant, advocate, special needs mom who has learned to navigate confidently through the daunting system of IEPs, and experimental medicine, to an exhausted, derailed and discouraged woman reaching out to other parents desperately asking what a cough assist machine is. It’s a dual existence of having a false sense of control and living in a healthy state of denial to completely falling apart, crying over my child and wondering how I will ever survive one day on this earth without him.

This too shall pass. I’ll get a new piece of equipment and learn to use it to improve my child’s health and extend his life. That’s how I will continue to exist. It doesn’t really matter what is going on deep inside his brain stem. He is happy, loving and loved. He gets tired more easily but he is still here. He’s still the same smiling beautiful boy so full of love that he was yesterday before I knew he needed a new machine to cough.

I will cry when I have to, but I will continue to move forward. I will file this news away and go on with life. I will probably hug my Maxie a little longer and tighter, pick him up early from his work program today to spend extra time with him, and probably add a third kiss goodnight.

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When the Life and Death of My Child May Be Determined by a Drug Company

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When news that a drug company first became interested in a tiny disease like Canavan, it seemed like a dream come true. It was the exact thing we had all been hoping for. The research and technology I have been tirelessly advocating for and funding since my child was diagnosed in 1998, had been sold for millions of dollars. The company that purchased it vowed to pursue a cure for our children and we believed them.

Well, I really wanted to believe them, but 19 years of fighting for the life of my son has taught me time and again to hold off on the celebration until after we reach the clinic and are allowed to actually use the medicine to help our children.

This was almost two years ago, and there has been no progress towards a clinical trial. The company that promised to help our children was recently acquired by one of the biggest drug companies in the world, a pharmaceutical giant with unlimited resources to finally discover the cure for Canavan.

But will they move forward quickly enough to save more children from dying? Will they move forward towards development of the new drug we have worked so hard on for almost two decades? Will they move forward at all?

This is one of the most helpless and desperate feelings I have ever experienced.

When I was told over and over again that no one was working on a cure for Canavan, at least I had the option to start working, raising money and do something proactive towards saving my 5-month-old baby. When the FDA said “no” to our clinical trials, at least I had the option to enlist the aid of every elected official who would listen to my story.

Our government officials are supposed to help the people who voted for them, and even the people who didn’t. Legislators and the FDA are publicly accountable for their actions and inactions. In hindsight, I realize that asking my government to save a few dozen cute babies who didn’t “look sick” yet was not so bad after all. It feels like nothing now, compared to dealing with a drug company.

I have been working with a patient advocacy representative at the drug company trying to figure out what I can do to help move this life-saving technology forward more quickly. The answer I dreaded most was the one I received.

I was told I needed to show a leading pharmaceutical company how they could make a profit by pursuing the cure for Canavan disease.

I took frantic notes during my first phone call. I was granted a meeting, and advised to create a presentation of my business model and cost analysis showing how they could make money from developing a cure for Canavan. The list of what I needed to produce made my head spin. I have access to everything they want, but this is a hard sell. I have to show a multibillion dollar company how they can make money by curing my child and the hundreds of other children around the world whose families are desperate to save their babies.

From my experience working with them, it feels like these companies are not expected to answer to anyone, and seem to have little public accountability.

I have learned that the squeaky wheel gets the oil, but can someone flying in a private jet even hear the small squeak of a tiny wheel down here? I’m going to make as much noise as possible and find out.

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Why It's OK to Sometimes Be Selfish When Working Toward a Cure for Your Child

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My story is not unique. Many parents who have children diagnosed with extremely rare diseases have confronted the same challenges I have faced. When your child is diagnosed with a fatal, devastating and progressive disease, and you’re told there is nothing you can do to help them, you have pretty limited options. You can find some level of acceptance and try to build a new life which includes the diagnosis and prognosis, or you can choose to ignore the doctors and try to  change the course of the disease. No choice is better or worse than the other, and this is a very personal decision. Both roads may even end up leading you to the same place.

I could not find a way to accept the diagnosis, so I chose to follow the second path. I thought about nothing else. I was consumed with the idea that if I raised enough money for experimental medical interventions, my son would not only live but one day walk, talk and lead a healthy life. Helping Max became my life’s work, my mission, my passion and my way of life. In order to do this, I had to set out on a journey to cure Canavan disease. For me there was no other way.

As my efforts gained momentum and garnered attention from the media, I was urged by many people and organizations to align myself with other diseases in order to help more people and potentially raise even more money. I was urged to stray from my mission of curing one “tiny,” unknown disease and focus more on rare disease, genetic diseases, Jewish diseases, allied diseases, or leukodystrophies.

At that time, there were already many existing umbrella organizations focusing on groups of diseases, and not one of them had ever been able get a single clinical trial for Canavan disease. I felt a laser beam of focus on one tiny disease was my best and fastest option to move medicine ahead more quickly towards something to help my own son.

This is why I am a selfish parent. I would love to save every child living with every similar disease, but realistically, I have been able to make more of a difference for more children by choosing to focus solely on Canavan disease. We have developed a Canavan cocktail of medications and orchestrated two gene therapy trials for Canavan disease. These successes were only possible with an extremely narrow area of focus.

I know I am not alone. There are countless diseases that require the same type of single-minded mission to find a cure. Sometimes there is no one else willing to do this job except for the parents. That’s why I believe sometimes it’s OK to be selfish as a parent.

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To the Parents Seeking Experimental Treatment for Their Children

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1. Curing a mouse in the lab does not equal a cure for humans. Unfortunately, science does not always translate immediately, or ever from a murine model to human patients. There are countless mice who have regenerated motor function or been completely cured while children have not. This is due to many reasons ranging from how the mouse model was created to the differences in brain size, life expectancy and metabolism of mice and human children. It’s definitely a step in the right direction and cause for celebration, but don’t pack your bags just yet. There is still a lot of work to be done between curing or helping mice in the lab and using the same technology to help our children. I’m not trying to be negative or dash anyone’s hope, this is just a realistic assessment I have seen after 18 years of experience.

2. “One to two years” to trial rarely happens. Prepare for disappointment and delays. No matter how promising and exciting the progress in the lab may seem, as soon as you hear the words, “we’re about one to two years away from a human trial,” just ignore the timeframe and try to find out what, if anything, you as a parent can do to help move things along more quickly. I’m not saying this never happens, but there are so many unforeseen complications, that there is often no way to really have a reliable timeframe until your trial is well into the review process.

3. Ask for support from anyone who might be able to help you, but don’t expect it. Whether it’s increasing awareness or raising money, sometimes the people you assume will be gung ho to help are not, and often times help will come from the most unlikely places. Take whatever help you can find, and don’t waste time worrying about the people who don’t become involved with your mission. Focus on the people who are by your side and forgive the people who aren’t. You have enough to worry about without getting upset over things you can’t control.

4. Don’t shoot the messenger. If you decide you want to take the uphill path and try to get your child into a clinical or safety trial, you need to know most research for extremely rare diseases is parent-driven. This means that possibly before your child was even born, there have been families raising private funds to convince a researcher to work on some unheard of disease, discover the gene responsible for causing it, support the gathering of preclinical data, meet with hundreds of people, and basically do everything necessary to get to the point where you come into the picture.

Most of the charitable organizations trying to help find cures were started by parents of sick children. The goal is always to find a cure, but sometimes we must first develop medical interventions that can slow or halt progression of a degenerative disease in order to buy time for our kids. This is agonizing because we have to wait, and worse than waiting, we have to raise money. When new families ask me what is being done and why it’s taking so long I tell them because we need more money, tons more money — whatever we have is never enough. We need government money, biotech money, and we will always need privately raised funds. It’s unfortunate, but sadly if you want your child to receive some type of experimental treatment and you want it sooner than later, you might need to help raise money.

You absolutely do not have to help. You don’t have to do anything. But if you choose not to help, then often you will be relying on others to determine the fate of your child. If you choose to help and decide to join forces with other families who share your goals, then don’t be shocked or upset when the issue of fundraising comes up, again and again. And remember this is always your choice.

5. Know exactly where the money you raise is going. If you decide to become involved in raising money for a cure, you’ll probably find several places to send your money. This can be tricky, because if you want the money you have raised to go directly to research, or to a specific researcher, then you need to ask the important questions and fact-check. Ask the person who controls the money how and if you can earmark it for a specific purpose. Most organizations have a way to collect money from families who wish to help, but they might not be financially supporting the researcher who is working on the cure for your child’s disease every single year. Or they might not have a way to earmark funds in that way. It’s not always as simple as sending in a check and writing a researcher’s name in the memo — that almost never works unless you have made proper arrangements in advance. If you send money to an organization, there is a good chance that those funds can be used to support the organization and not the research you want. Unless you are the director of a charitable organization, those are questions you might want to ask. Oftentimes you have an option to support the research team directly. This way you have control of the funds and can dictate exactly what they are to be used for. When in doubt, ask a lot of questions and check online because finances are all public record.

6. Securing medical treatment for your child can become a full-time job. Often with no pay and sometimes with a ton of out-of-pocket expenses. There can be lots of travel, uncovered medical bills, and even a loss of work due to surgeries and follow up testing. It is a great deal of work and can go on for months or even years, but sometimes there is no other way to save your child’s life.

7. Research and become an expert on your child’s disease. If you are planning to search the world for something to help your child, then learn more about the disease than any average person should know. Study everything being done that concerns the disease. Become familiar with every known vector, stem cell, and animal model. Study everything, because when you speak to the team who is doing the work, you will need a medical background to understand them. Yes, you should always speak directly to the researchers yourself if humanly possible. Don’t be afraid to become overly involved in the process. I might have been the most annoying parent ever, but my son has had gene therapy twice, so I have no guilt or shame about the extreme measure I had to employ. If you need to start your own foundation to get things done, then do it.

8. Pray for a miracle, but don’t expect one. This road is paved with delay, disappointment and tears. Set high expectations, but don’t fall apart if things take too long, or the cure seems impossible. This requires thick skin, and it can hurt more than anything you thought possible to watch your baby deteriorate while it feels like you are standing helplessly by. Just keep working towards your mission, and hopefully treatments, and one day a cure will come. There is no guarantee. My son had his second gene therapy almost 15 years ago and no new trials have materialized since then. But I’m never going to give up. He’s not cured, but he’s still here and sometimes that’s all we can hope for. I’m still working towards discovering the cure and praying for a miracle.

9. If you are lucky enough to get your child enrolled in a trial, please know exactly what you’re getting into. I can vividly remember one of the doctors saying to me, “you do know you might just be extending his life, right?” It was exactly what I wanted. I never dreamed that my son would be about to celebrate his 19th birthday. He is still profoundly disabled and requires full-time care. He is and will probably always be 100 percent dependent on me for his survival. I knew exactly what I was getting into.

If you have a child who is like my son, please look ahead and be absolutely certain participating in a trial would work for you, before you take drastic measures to medically extend his or her life without really curing them. This can and does happen, because with such outstanding care comes a longer life. These cute little babies and kids will grow into adults, adults that love you and need you for their physical and emotional wellbeing. My son will have a place in my home until he takes his last breath. He’s thriving, smart and happy, and he is the love of my life. This is exactly why I fought to keep him alive. However, because each parent has a different outlook, it is beneficial to bring to light a topic people sometimes overlook or don’t want to think about. So, just know what you’re getting into.

10. Don’t ever give up hope. Sometimes hope is the only thing we have. If you don’t cling to hope, then you won’t keep pushing towards your goal of saving your child. I’m not saying this always works, because I’ve seen too many children lose their battles way too early in life. But if you dream of a cure, just keep hoping and working towards it, and maybe one day it will happen. I know my son will most likely never be cured, but he’s been helped and I hope that my continued efforts to help him will one day result in the cure for Canavan disease.

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