head of a zebra

When I Need Doctors to Ignore the Prognosis of My Child's Disease

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“When you hear hoofbeats think of horses, not zebras.”

In medicine this is a reference telling doctors to first look for a more common explanation of symptoms before searching for a rare or obscure diagnosis. It makes perfect sense. First rule out the more simple possibilities until those yield no diagnosis, then begin searching for a less common explanation.

But what happens when you already know the hoofbeats belong to a zebra, and your child has already been diagnosed with a rare disease? I can tell you from 19 years experience that a lot of the time I still have to remind the doctors to look at the whole picture and not just the disease.

Children who are living with a rare disease still have many of the common childhood ailments from reflux to severe respiratory illness, and everything in between. And sometimes the sound of zebra hoofbeats is so loud the medical team never even stops long enough to listen for the horse.

Not everything that goes wrong with my child is related to Canavan disease. This is something that I’ve discussed with other Canavan parents as well, but I’m sure it’s just as common in other rare disease communities.

When Max was a baby, before I had 10,000 photos readily available on my Facebook page, I had to bring a photo album with me to every ER visit just to prove to the team that, “No, he’s not usually like this.”

They would look up the description of Canavan and then come back puzzled about why we were even there because the unconscious, sick child actually matched the outdated and incorrect textbook definition of Canavan disease. I would repeatedly explain that I expected them to figure out what was wrong with him, besides Canavan disease, and fix it!

As Maxie has gotten older, and is now pretty well beyond the typical life expectancy for Canavan, I have encountered another side effect of the zebra phenomenon. The “typical disease progression” answer. And I find myself again put in the position of advocating for my son and demanding that the medical team look for something they can treat, ignore the prognosis of the disease, and save my child. I have learned that once they begin attributing things to “disease progression” that’s my cue to show off a picture of Max at his riding lesson the week before and remind them of the first rule, “When you hear hoofbeats think of horses, not zebras.”

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Thinkstock Image By: Peerajit

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How I Keep My Son's G-Tube Site Healthy

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“Wow, that’s the best looking G-tube site I’ve ever seen!”

Those were the first words I heard from the PICU nurse about my son. At the time he was unconscious and using a ventilator, but I understood what the nurse meant.

My son is 19 years old and has had a G-tube for over 13 years. I know from talking to other parents that keeping the site clean and healthy can sometimes be a challenge. Just days before he was admitted to the hospital I was taking pictures of Maxie’s belly to share with a fellow parent in an online group. The other mom had told me that skin around her son’s tube looked red all the time. The G-tube site is a constant topic online, and I have heard from many families over the years that the skin is usually red or that there is leakage around the tube site.

g tube site on skin

I know there are several options available to keep some type of covering over the area, but we were advised against covering the skin with anything and haven’t encountered any of the common problems. I’m not sure how we got so lucky, but we’ve never had any issues with redness, granulation, leaking or infection.

I attribute this mainly to the doctor and the advice that he gave us, which for the most part I followed. He told us to treat it like an earring hole, and after the initial wound healed to leave it uncovered all the time and twist it around so the skin wouldn’t grow back around it. That’s it.

I followed his instructions, but I initially used Neosporin with painkiller on the site until it was completely healed. My son’s doctor actually told me not to put any type of ointment on it, but I love Neosporin and didn’t see the harm. I’m not advocating going against doctor’s orders, but this was just something I decided to do mainly because there is a topical painkiller in Neosporin, and I didn’t want my son to have any more discomfort than necessary.

I’m not bragging, but over the years I have received compliments from every health care professional who has had the occasion to see Max’s G-tube.  If you have a child with any special needs you’ll understand that sometimes any positive reinforcement about the care we’re giving our children is extremely encouraging to a parent trying to navigate through the oftentimes new and unchartered lifestyle.

I never thought much of it, but over the years through social media the special needs world has become so easily accessible that I am in contact with people all over the world on a daily basis, and this G-tube issue is a common theme. Since everyone seems to think that Max’s G-tube site is really amazing, I definitely want to pass on the information we were given so long ago.

I can’t even remember why I was so worried about the fact that one day Max would need this miracle of modern medicine, because for our family it’s just part of the daily schedule. The way he gets nutrition by having a feeding tube has improved Max’s life beyond measure.

Editor’s note: Any medical information included is based on a personal experience. For questions or concerns regarding health, please consult a doctor or medical professional.

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birds in a flock except for one

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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