How is Iris?


It’s now been over 4 years since my daughter Iris’ diagnosis with GM1 Gangliosidosis, a progressive neurological disease which is always fatal in children.  At the time of diagnosis, she was five and half years old and she is now ten years old.

Doctors recently started using the words “progressed” and “advanced” to describe the stage of her disease.  We’ve gathered statistics which indicate that the average age of death for a child suffering from juvenile GM1 is age 14.  We push this statistic out of our minds. Its simply too much to bear to think she might have only four years left.  We simply don’t know what the future holds.

I’ve been struggling for awhile now with what to say.  A lot of people ask a very simple question relatively frequently “How is Iris?”  I wish the answer was simple, but it’s no longer simple.  I want to convey hope, but I also want to be realistic and truthful.  My response is usually something along the lines of “She’s doing the best that she can.”  Other standard responses include “She’s ok.” or “Relatively speaking, it could be much worse.”

The infantile and late infantile forms of GM1 Gangliosidosis are more severe.  We’ve seen dozens of children die from GM1 over the years.  In the case of babies with infantile GM1, the majority do not see age 3.  For an infantile GM1 baby, age 5 is considered an extremely long life.   However, make no mistake. No child has ever survived GM1 Gangliosidosis regardless of whether it’s the infantile form, the late infantile, or the juvenile form.

Recently, just a few days ago someone asked me “How is Iris?”  I replied candidly and the person’s reply was “I’m so grateful my children are healthy.”  The person who asked seemed to be expressing relief to me.  Please never reply this way when receiving a vulnerable admission from a parent whose child is dying.  That sort of comparison is simply a dagger to the heart. Nonetheless, the disease is a fact of life for us.  We live watching our daughter slowly slip away from us.

At the time of her diagnosis, she could read, write, speak, and play on the jungle gym.  Years ago, even shortly after diagnosis, we were told, it was already too late, and basically hopeless.  Regardless, we chose to fight to fund medical research and we continue to do so.  That was 4.5 years ago.  Imagine the words “advanced” and “progressed” ringing in your ears.  Know that life does not stop.  Time and the disease march on.  Know that we’re fighting for something bigger than ourselves.

I’ve decided to say it to myself and to say it here.  Iris is not the same and never will be.  My heart and my life will never be the same either.  Her gorgeous smile and her ever so innocent and sweet spirit have forever changed me.  She is loved beyond measure and always will be.

Perhaps, are you wondering now if we’ve given up on our sweet girl?  The answer is that we would never give up on our girl.  We don’t take even a single millisecond for granted.  We’re still fighting to maintain her quality of life to the best of our abilities.  We’re still fighting for all those suffering from this awful disease.



The author of this post Christine Waggoner founded the Cure GM1 Foundation in April 2015 in honor of her daughter Iris and all the children who suffer from GM1 Gangliosidosis.

To make a donation to support GM1 medical research, please see: www.curegm1.org and www.sweetiris.org for more information.





4+ Years Since Diagnosis and 20/20 Hindsight

It’s a day I will never forget.  August 26th, 2013, our sweet daughter Iris was diagnosed with GM1 Gangliosidosis, a terminal degenerative neurological disease.   It’s now been over four years since that utterly horrible day.  Fortunately, she’s still here, even still smiling and living with a reasonable quality of life.   However, she’s not the same and she will never be the same.

My husband and I have changed too.  We like to believe this condition taught us a great deal about life’s priorities.  We like to believe we are now more loving and empathetic.   The time before that fateful day, we were blissfully ignorant of GM1.  We wish GM1 Gangliosidosis never became a part of our lives, but wishing does not change this reality.  More importantly, we love our daughter deeply and unconditionally.  We accept that we can not change her diagnosis and the past.  We work towards making the present and future as pleasant as possible as GM1 slowly assaults her brain and spinal cord.

In retrospect as we’ve become accustomed to living with GM1 in our lives, what have we learned?  What knowledge if any can be imparted to others that might possibly be beneficial?  What do we wish we could have done differently before diagnosis and since?  What has 4+ years of living with a devastating degenerative disease in our lives taught us?  Below is a list of a ten thoughts:

  1. Don’t ever accept waiting 5 months to see a doctor when seeking a diagnosis.  When our pediatrician first recommended we see a neurologist, he referred us to a neurologist at a highly regarded university.  We were told the first available appointment was in 5 months.  We asked repeatedly if there was something sooner and we were always told “no.”  In retrospect, we should have gotten a different referral and gone somewhere else.  5 months was a tremendous amount of wasted time.  In general, the earlier one receives diagnosis and treatment, the better.
  2. When you finally see the doctor whom you’ve been waiting 5 months to see and he brushes you off, seek a second opinion promptly.  Don’t lull yourself into complacency when he says “nothing is wrong.”  It’s probably obvious, but this one still really stings. Worse, this doctor told us not to even bother with testing because he said it would be inconclusive and “probably would not matter.”  Something was deeply wrong and medicine is advancing constantly.  To advise patients that a diagnosis does not matter is also very wrong.  Our lack of experience and this doctor cost us dearly.  Ultimately, our daughter was diagnosed with a simple blood test.  The diagnosis opened doors to treatment and services.  Furthermore, although there is no cure or treatment, there are interventions that can help slow the disease.  The earlier one attempts to treat the disease, the better.
  3. Consider seeing a geneticist.  A lot of people don’t really ever consider seeing a geneticist. Medicine is changing and genetics is playing a bigger role in medicine.   Consider this option if you are facing a serious mystery illness and seeking answers.
  4. Don’t underestimate just how much you are responsible for when navigating the medical industrial complex.  When our daughter was first diagnosed, we thought we might have a guide through the medical system.  We learned the hard way that we are driving the bus.   Consult your doctors and counselors.  There are people who help, but no one cares as much about you and your family than yourself.  Ask questions, decide what you need to do and make it happen.
  5. Especially following the initial diagnosis, there may be a lot of doctors appointments.  While the appointments are important, don’t forget to live your regular life.  The disease is not your life and there is still a great deal to enjoy.  Make memories, record, document, photograph every moment with your loved ones.  Cherish your time together and make time to live life outside of all that the disease has brought into your life.
  6. Take care of yourself and your relationship with your spouse/significant other.   A disease such as GM1 is very severe.  Navigating the diagnosis, the medical care, the expenses, the stress, and the emotional toll is truly intense.  One of our doctors warned us of divorce in one of our first appointments following diagnosis.  Support each other and try to go easy on one another and yourself.   Counseling and therapy are also very common for these situations and can be helpful.
  7. Ask your health insurance if there is a patient liaison or case worker who can work directly with you.  Get a direct phone number and email and don’t ever navigate an automated phone answering line again.
  8. Find the right doctors to support your family and child for an extended period of time.  There are doctors such as palliative care doctors and those who intend to care for your child over the long haul.  The best doctors are also the ones who tell you that you are the one who knows your child best.  Someone who sees  your child for a half hour or a few hours each year does not have the same intimate knowledge of your child as a parent or family member.  Stick with the doctors who acknowledge the importance of knowing your child and those whom you genuinely trust.
  9. Don’t live in the past.  When faced with a degenerative disease, it is very hard not to look back longingly on the past.  We do love our memories, but they are only memories.  Your child and family need you to be present and there is still so much to cherish today and now.
  10. There is no rule book.  These are just some thoughts based on our experiences, but this is real life and real life does not have a script.  The choices you make are yours.  This is your family, your child, and your life.  While others have similar experiences and can impart helpful advice, it’s just advice or based on their own experiences.    No one knows your personal situation better than you.  Trust your gut and also give yourself the flexibility to change your opinions and to re-chart the course when necessary.

This story is not yet over.  There’s still much to do and much to learn.  One of our deepest hopes is that we’ll somehow leave a small impression on the course of history by helping to advance a possible treatment for this horrible disease.    In the meantime, we share our story with others in an effort to raise awareness and to try to help others in similar situations.

Our hearts go out to all those who have already lost loved ones.  Over the years, we’ve seen far too many children pass away from GM1 and we’ve seen the deep heartbreak this disease causes.  There are over 7000 known diseases and 95% have no treatment or cure.  May we all honor the memories of those who desperately deserved a treatment, but did not receive one in time.  May the future hold hope those suffering from conditions such as GM1 Gangliosidosis.  Every day, every moment that passes, we could be closer to an end to this horrible disease.


Someone Stole My Daughter’s Walker

Since my daughter Iris’ diagnosis at age 5 1/2 with GM1 Gangliosidosis in the fall of 2013, I’ve become oddly accustomed to living life with GM1.  It’s a very harsh reality knowing she has a chronic and fatal neurological condition.  Still, after 3 1/2 years, for my sanity, I’ve partitioned that reality into the recesses of my mind.

Iris is “lucky” enough to have the juvenile onset form of GM1 which is less severe than other forms of the condition.   We hope she will live into her mid teens, twenties, or possibly longer.  But GM1 always becomes progressively worse as time passes.  GM1 destroys the central nervous system which in turn impacts pretty much every basic bodily function.

We cope as best we can.  We try our best to lead a happy existence despite our daughter’s grim diagnosis.  We constantly remind ourselves to enjoy our daughter, our family, our lives, and the time we do have.

As we have learned to live with with GM1,  we’ve found the new “normal” on repeated occasions.  What might seem incredibly scary, e.g., watching your child lose the ability to walk, is very bizarrely just a part of our lives.

However, today was not normal.

Today, someone stole my daughter’s walker from a store parking lot. In a very brief lapse, the walker was accidentally left behind in the parking lot by the handicap spot. Realizing this mistake, Iris’ father returned immediately to the store. It was only a matter of minutes before he turned around to retrieve the walker.

Upon returning to the store, the walker was not in the parking lot, and it was not in the lost and found. After speaking to security at the store,  we were told that security video footage recorded the theft.  Three people on the video were involved: the driver of the car and two people who grabbed the walker.

Immediately, following diagnosis, we could not help, but ask “why?”  GM1 is estimated to occur in approximately 1 in 200,000 live births.   Some statistics indicate it may be even rarer.  On the good days, we generally don’t ask “why” anymore.  Today, I ask “why” once again.

Why steal a child’s walker?  It was in the parking lot right by the handicap spot.  Why not bring it to lost and found?

I suppose I know the answer.  Perhaps, it seemed worth pawning?  Online it is $625 without shipping costs applied.  Perhaps, someone felt truly desperate for some reason which is unknown to me.

For my daughter, the walker is worth far more than $625.  Her walker is part of her freedom and it is life altering.  The walker allows her to walk somewhat independently at school.  The walker helps her maintain as much muscle tone as possible.  Walking helps preserve aspects of her health.

And let’s be completely honest, navigating the medical industrial complex to get the walker took some time.  The process to get the walker involved physician approvals, appointments, and health insurance.

We share this story to let people know that stealing is wrong.  Stealing children’s medical equipment is the low of the low.   While this is “just” a petty crime, there’s a story behind that bright little yellow walker accidentally abandoned in the parking lot.

There’s a story of a little girl fighting for her life.  There’s a story of somewhat frazzled special needs parents.  We hope the police will track down the walker.  If not, we will navigate the process of getting a new one.  We’ve been there and done that.  We know the drill.

Angry about the stolen walker?  Yes. Will we survive? Yes.

Thank you to all our friends and supporters and those who offered assistance.  We are hopeful that the police will turn up with the walker.  Otherwise, for the interim, we will try to borrow another from California Children’s Services.  Will our insurance cover another?  I’m not sure.

profileThe author of this post Christine Waggoner founded the Cure GM1 Foundation in April 2015 in honor of her daughter Iris and all the children who suffer from GM1 Gangliosidosis.

To make a donation to support GM1 medical research, please see: www.curegm1.org and www.sweetiris.org for more information.


Lessons from a Yard Sale from a Rare Disease Mom

Recently, we held our first yard sale to raise funds for a cure for GM1 Gangliosidosis.  GM1 is a rare fatal neurological disease.  Tragically, my daughter was diagnosed with it over 2 and half years ago.  Every contribution helps and it’s important to get the word out.   We continue to encourage others to join the fight to save our daughter’s life and to save the lives of all those affected by this condition.

At the yard sale, I was struck by two experiences in particular.  In the first case,  I was selling a guitar. I was thinking out loud when a woman asked for the price. I said, “Well, it was originally $100. It does have a broken string, but it is also for charity.”  In the back of my mind, I had not settled on a price, but I definitely did not expect $100.


I handed the woman a brochure and told her that my daughter is on the cover.  I explained that our nonprofit is for children suffering from a rare fatal brain disease. She looked at the brochure and said “I am so sorry.  I will give you $100 dollars.” She then said “Some children are with us for a shorter time.” She walked away.  A few minutes later, she came back. She looked at me and said “I lost both my children.”


I wanted to ask more about her children, but I also did not want to ask too many questions having only just met her.  I am very grateful for her generosity.  I thought about how death is a part of life.  So many of us have been affected by extremely painful experiences, yet these experiences are often kept private.  Those experiences do not always rise to the surface in our more mundane interactions.  “You probably know what we are going through then,” I replied.  She nodded silently.  It was a fleeting moment of mutual understanding.


The second experience took me by surprise in a different way.  I like to believe I’m a minimalist, but over time, we have accumulated stuff as many people do.  I realized I felt uncharacteristically attached to some of the items we put out for sale.


The time we prepared for the sale was a bit frenzied.  We gathered items as quickly as possible.  I realized that one of my grandmother’s books was in the sale.  It was a beautiful old book that she liked very much.  I put it into the sale because we have not read it.  It’s been a year since my grandmother’s death, a year since we were given some of her belongings.


A woman came up and asked for the price of my grandmother’s book.  I said “$1 or $2 dollars would be nice.”  Then, I realized that I really should not have put the book out for sale due to its sentimental value.  She said “I will give you a dollar.”  I said “It would be nice if you would consider the $2 because the sale is for charity.”


The woman turned to me and said “Wow!  Anything for a buck, huh?”   I explained that this is for a nonprofit for my daughter and for children who are dying.  I handed her the brochure and she left without the book.


In one case, I feel someone was very generous by paying the full price for the guitar.  In the second case, I was taken aback by the “Anything for a buck” comment given the nonprofit sign on the table.  All the funds are donated to medical research.


Perhaps this woman was just annoyed because she wanted the book.    I can understand that she might also have been peeved because I said “$1 or $2.”  It was really $2 that I offered while haggling.  In truth, I realized I did not want to sell the book at all due to its sentimental value.


As I stood at the yard sale,  we sold odds and ends.   I thought about how much all these material items truly  mean.  I thought about how much the difference between $0, $1 or $2 is in the context of raising funds for medical research.   I am glad that I managed to give this particular woman an informational brochure despite her annoyance.


I  believe 100% that children with GM1 Gangliosidosis deserve a chance at LIVING.  I try my best to live each day with as much hope as possible. The reality is that the deck is not stacked in our favor. This is rare degenerative disease.  As time passes, regressions advance.  Some of the changes and experiences are very hard to accept.  Generations of children have been suffering from this disease for over 130 years which is far, far  too long.


Someday,  I may be the woman who says I have lost a child.

We do not ask for pity .

We do not ask for $1 or even $.01 of people’s hard earned funds lightly.


In reply to that blunt comment over $2  versus $1 for a book,  “YES, anything for these children.”   Anything for them.  We will continue to fight for a cure and to fight for awareness.  These children are truly deserving of “a buck” or two and so, so much MORE. They deserve hope and treatment as opposed  to a descent into a vegetative state riddled by seizures until death.


Thank you to the sweet woman who bought the guitar and for that very vulnerable admission at a yard sale.


Thank you to all our friends and supporters who have been so very generous.

profileThe author of this post Christine Waggoner founded the Cure GM1 Foundation in April 2015 in honor of her daughter Iris and all the children who suffer from GM1 Gangliosidosis.

To make a donation to support GM1 medical research, please see: www.curegm1.org and www.sweetiris.org for more information.


Birthdays are Bittersweet

I’m truly grateful.  My sweet daughter is so very fortunate to celebrate her 8th birthday.  Two and a half years ago, we were faced with her diagnosis of GM-1 Gangliosidosis, a rare degenerative neurological disease.  There is no treatment or cure.  Her life will be cut short without incredible medical advances.  Yet, here we are.  Another birthday. Another entire year. We are so very grateful for every moment.  We adore her smile, her hugs, and her love.

Not a single doctor can tell us with any confidence how many birthdays she will celebrate.  One specialist guessed a life expectancy into her teens or perhaps even into her twenties.  We can only hope that is the case, but is it quality or quantity that matters most?  We are living in the face of a chronic and life-limiting condition without a proven treatment and without answers.

Ironically, even those who do not face such a devastating diagnosis, do not truly know their own futures.  It’s simply much, much more likely that our daughter’s life will be cut short by decades more than the average lifespan.  It’s also very likely that her life will involve challenges that the majority of the population typically do not face.

Still, we are hopeful.  We have been told that a clinical trial may arrive as early as next year.  We fought tooth and nail to obtain the only medication which is thought to be possibly beneficial. Through a study, we embarked on the Modified Atkins diet in an effort to possibly enhance the efficacy of this particular medication.

This special diet deprives our daughter of nearly all sugar.  On her birthday, there will be no cupcakes, frosting, or sweets.  If we do make a “cake,” it will be prepared without  the normal ingredients: flour and sugar.

And miraculously, despite the nightmarish diagnosis, she’s eight.

She’s living life.  There are many nagging questions.  Is the medication working?  Will our insurance approve the unreasonably expensive medication again?  Is the diet helping? Will the clinical trial happen on time?  Will she be in the clinical trial?  Do we actually want to be in the first clinical trial?  When will she stop walking?  When will she stop speaking?   How many birthdays will she have?

We simply do not know. 

We do know that many children with this condition have a much more severe form of the disease.  These children’s lives are measured in months and days, rather than years.  Tragically, several children who were diagnosed around the same time as our daughter are no longer with us on this earth.

Given the situation, what does one do?  How do we celebrate given that this is a degenerative condition and the clock is always ticking?

We celebrate fiercely because this diagnosis has taught us so much.  Birthdays are truly an event to celebrate, despite time also being our enemy.

Today, in honor of our sweet girl and all the children who suffer from this horrible condition, find something to celebrate.  It may be something small.  Savor the first, middle, and last sip of your morning coffee.  Take a deep breath of fresh air as you open your door.  Commit an act of kindness.

Live and love fiercely, because one never knows how many birthdays remain.  

profileThe author of this post Christine Waggoner founded the Cure GM1 Foundation in April 2015 in honor of her daughter Iris and all the children who suffer from GM1 Gangliosidosis.

To make a donation to support GM1 medical research, please see: www.curegm1.org and www.sweetiris.org for more information.

To follow Iris’ story on Facebook, click here.


When Someone Said “So What” About My Daughter’s Rare Disease

Just recently, when I was speaking to a friend,  I explained a new development in the progression of my 7-year-old daughter’s condition. This particular disclosure was about something no one would ever want to know is happening to a loved one.  It was a detail I tried to avoid learning, but I felt obligated to read the medical records when they arrived in the mail.

I know that I should expect GM1 Gangliosidosis to get worse.  It’s a progressive neurological disease.  I know the prognosis and it’s definitely not good.  I’ve spoken to enough doctors to know that no one wants to give me a false sense of hope.   I’ve read more about GM1 than I care to remember.   But knowing the disease characteristics is not the same as accepting the disease as it plays out in our lives.

I stared at the medical records glumly.  There it was in black and white…yet another confirmation that this is a “big time” disease.  GM1 Gangliosidosis is a rare disease and it is degenerative and fatal.  There’s no treatment or cure.  The textbook progression is marked by the worst kind of milestones: feeding tubes, pneumonias, loss of speech, loss of the ability to swallow and the list goes on.   Try as I may,  at times,  it’s impossible to ignore the gravity of the situation.  We hope for plateaus.  We live one day at a time.  As unrealistic as it may be, we still hope a cure might arrive in time.

When I confided in my friend,  “So what,” he replied to me.  At first, I was incensed.  “So what?!”   I just shared an intimate detail that I could barely internalize.  I ran the conversation by my husband.  His reply: “It’s not the most sensitive thing to say, but in a way, he’s right.”  I’ve been told repeatedly what will happen, so why should the test results have been a surprise?

I’m human.  It was difficult to accept the new information and the blunt response.  In truth, the words on the page of the medical record changed nothing.  This single test result, while very disappointing was just a factoid.  It has since faded to the recesses of my mind.  The comment “So what” jostled me from my funk and forced me think about the intended meaning of the comment.

A medical test result does not change my love for my daughter.  This particular factoid does not truly impact our day to day lives.

So what?

The time I have with my daughter is too valuable to let myself be consumed by this disease.  I try in earnest to not to dwell on what was or what will be.  Sad news is startling and the ongoing impact of this condition is undeniable.   The entire experience of living with a disease like GM1 is not pleasant in any way, shape, or form.  Still, the situation is what it is.  We’re fighting this daily.  We get knocked down.  We pick ourselves back up.

A doctor once tried to convince me that this disease is not so hard on the children, but is much harder on the parents.  While I agree that it can be very hard on the parents, I believe it’s much harder on the actual affected person.  It is my sweet courageous daughter who lives each day as her own body fails her and destroys her central nervous system.  It is she who must experience the full brunt of every symptom, blood draw ,and medical procedure.  Even before diagnosis, at a very tender age, it is she who understood she would never keep up with other kids on the playground.  It is she who fights against all odds for every footstep and for each syllable on her tongue.

She is my teacher.  She is my hero.  So, that’s what.

profileThe author of this post Christine Waggoner founded the Cure GM1 Foundation in April 2015 in honor of her daughter Iris and all the children who suffer from GM1 Gangliosidosis.

To make a donation to support GM1 medical research, please see: www.curegm1.org and www.sweetiris.org for more information.

To follow Iris’ story on Facebook, click here.


Two Years Since Diagnosis

In the featured image of this post, we look like a happy family.  This picture does not show even a hint of the deep grief we were experiencing.  The only visual indication of Iris’ condition in the image are the ankle foot orthotics.

It’s now been nearly two years since diagnosis.  I’ll never forget the day.  My husband turned forty and his job essentially dissolved the same week.  When it rains, it pours.

It was an awful birthday and one we will never forget.

In a way, it was convenient.  Some of the decisions on how to move forward were made for us.  Both parents working full-time was no longer a possibility.  The struggle of managing time away from work for all the various therapies and doctors appointments came to an end.

Before diagnosis, we thought our daughter was just a bit clumsy.  We thought that she had a benign speech issue.  We thought physical and speech therapy would suffice.  At first, that’s what the doctors said.  Following diagnosis, we faced the grim reality of a rare, chronic, incurable, terminal illness called GM1 Gangliosidosis.

The kicker: the cause is genetics.  Much to our chagrin, Darwin and nature’s game of roulette had their way. The faulty genes lurked within us, her loving parents.  The genes were recessive, hidden, and dangerous.  Illogically, we had an awkward feeling that as carriers, we could or should have known despite no family history of this condition.

I allowed myself to cry as I commuted alone in the car.  My husband and I were most comfortable in the presence of our children, where the sole focus was on their immediate needs.  The darkest times were those moments of solitude, usually in the evening.  Bedtime stories were over.  The children were asleep, yet I lay awake.

My mind wandered beyond the present moment.   I made the error of permitting myself to imagine an alternate reality.

Two years later,  simply put, I don’t go there.  Where, you ask?  I don’t go to that imagined and nonexistent place without GM1 Gangliosidosis.  I don’t believe I am responsible for the course of events that led me and my husband to carry the disease-causing GLB1 gene.

Time, acceptance, and even a degree of healing dulls the pain.  We cherish the time we do have.  We accept our lives and the entire spectrum of experiences involved.  We cherish and love our daughter for who she is .  We try not to ask “what if?”  We don’t imagine whom she might have been without this rare disease  The grief ebbs and flows, punctuated by “normal” milestones and or regression.

There are many, many hardships in life.  It’s really not productive to compare our lives to others’ lives.  We may not be able to control all the events in our lives, but we can control our responses.  We can choose to advocate.  We can choose hope and resilience.

GM1 Gangliosidosis and grief will not consume us, although it is an utterly horrible condition.  Simple pleasures abound: a smile,  a walk hand in hand to the store, a family outing.  There is still much to appreciate.  There is much to enjoy today.

Today, I still kiss my daughter’s head, hold her hand and cuddle with her.  I will continue to have that immense privilege for a time that is not predetermined.  No one really knows what the future holds.  Real life does not have a script.

Without contrast and without hardship, we would not truly understand or appreciate joy.

profileThe author of this post Christine Waggoner founded the Cure GM1 Foundation in April 2015 in honor of her daughter Iris and all the children who suffer from GM1 Gangliosidosis.

To make a donation to support GM1 medical research, please see: www.curegm1.org and www.sweetiris.org for more information.


Wishing to be Frozen In Time

Frozen was released in November 2013, almost 2 years ago.  It was a massive global success Children throughout the world sang “Let It Go” everywhere from their bedrooms to the streets.The box office receipts clearly indicate that there were repeat viewings while the movie was in theaters.  Once the DVDs were released, parents endured countless repeat viewings.  Parents and children alike learned the lyrics to all the songs.  Some parents learned the lyrics reluctantly so.

My daughter Iris was 5 when Frozen was released.  She liked it just as much as any other little girl.  OK, she liked it perhaps a bit more than average.  I for one would love to hear my daughter sing the lyrics of “Let It Go” once more.  I will always remember Frozen fondly even though it is now fading from people’s minds.

I’m not a Frozen fanatic, but I have a very good reason for liking the film.  Two years ago, my daughter could still sing the lyrics to “Let It Go.”  Today, I have to coach her through uttering just the three words in the title of the song.  The reason she can no longer sing the words is because she has a very rare disease called GM1 Gangliosidosis.  This disease is a degenerative neurological condition that will ultimately take her speech and voice.  This condition will also end her life if medical research does not advance in time to save her.

Frozen was released just 3 months following Iris’ diagnosis of GM1 Gangliosidosis.  We had a truly wonderful Christmas that I will cherish always.  It was a very Frozen Christmas.  Iris received Elsa’s dress, an Elsa doll, the soundtrack, and Elsa’s wig.  We danced and sang together.

This was the brief period following her diagnosis when we had not initiated the ketogenic diet, a diet which is devoid of nearly all sugars and carbohydrates.  Christmas of 2013 was the last time Iris ate any substantial amount of sugar or sweets.  She ate her last gingerbread man for the foreseeable future.


The simple things such as listening to your child sing should be truly enjoyed.   Time passes all too quickly.  I can tell you now that the progression of this condition is real.  I would give anything to hear my daughter sing again, even if she were to sing the lyrics to “Let It Go” daily a hundred times over.

My daughter will likely enjoy Frozen long after other children will have forgotten and outgrown the film.  This disease will essentially keep my daughter a child even as she ages.

We will cherish her smile and everything about her for however long she exists on this Earth.

Despite everything, I hope I will watch Frozen over and over for many more years.  To do so would mean that my daughter is still living.  Hopefully, she will not be suffering or in pain.  As we face this progressive degenerative disease, I truly wish I could summon Elsa to freeze time.  In my Frozen fantasy, Elsa could halt the progression of this wretched condition.

Everyday, my focus is on enjoying the here and now because today is all we truly have.  Nonetheless, I will never forget my daughter’s sweet singing and our very Frozen Christmas.   I will also always cherish when friends came to serenade my sweet girl with a truly touching Frozen medley.  Iris’ sheer joy on this day was a true gift.  The value of that pure joy is immeasurable.

I will never let these memories go. 


Homeopathic Regimen

For this particular post,  let’s start with all the necessary legal disclosures.

The statements contained herein have not been evaluated by the Food and Drug Administration. The information contained in this blog is intended for educational purposes only.  This information is not intended to be used to diagnose, prescribe or replace proper medical care. The information described herein is not intended to treat, cure, diagnose, mitigate or prevent any disease.  Always consult a physician before initiating any supplements or regimens.

On this journey, there came a point where we had to determine our philosophy of care.    When your doctor tells you there is practically nothing s/he can do for your child, it might alter your perspective on medicine.  Some people have relatively strong opinions before encountering a condition such as GM1.  If so, perhaps those opinions guide their philosophy of care immediately.

Our philosophy of care continues to evolve and we will allow ourselves the space to change our philosophy depending on the challenges we encounter and the decisions that will need to be confronted.

Last year, we briefly corresponded with a father from a foreign country who told us he developed a homeopathic regimen and medicine that ceased the progression of GM1 in his child.  Initially, he offered to send us the medicine he created free of charge.  He told us that people in countries other than his own are unaware of the treatment he developed.  He described a regimen of oral enzyme supplementation of beta-galactosidase, a lactose-free diet, and oral aloe supplements.  The enzyme supplement was prepared by a homeopathic pharmacy in his country using beta-galactosidase obtained from Novo Nordisk.  Beta-galactosidase is the particular enzyme that is deficient in those suffering from GM1 Gangliosidosis.

Our doctors told us very clearly that they never heard of this regimen and it would be unsafe to administer any medicine, homeopathic or not without truly knowing the contents of it.  Simply put, while unlikely, something bad could occur.  Finally, there are no official or peer-reviewed papers/studies outlining the scientific validity of such a regimen.

Ultimately, we dismissed the idea of using the enzyme from this father.  The intriguing part was the thinking behind the elements of the regimen and also the true sincerity of this man’s belief in his treatment.

There is an amazing true story about another father named Augusto Odone who developed a treatment for a disease called adrenoleukodystrophy (ALD)  for his son Lorenzo.  There is a widely released film that portrays this particular story.  It’s called “Lorenzo’s Oil.”  This film was released in 1992, starring Nick Nolte and Susan Sarandon.  The father we encountered likened himself to Odone.  Adrenoleukodystrophy is not considered a solved problem today and it is a truly devastating condition just like GM1.  If “Lorenzo’s Oil” is administered early enough, it is thought by some to be helpful to asymptomatic ALD patients.  Augusto Odone received an honorary doctorate for the creation of Lorenzo’s Oil from the University of Stirling.  His son lived to 30 years of age, well beyond the life expectancy estimated by his doctors.

Doctors told us that there are many unfortunate stories about desperate parents being duped by people who claim to have a cure for GM1.  The father we encountered wanted very little in return for his medication and he seemed sincere.  Upon examining images of the father’s child and news coverage from his country, it appeared that his child was still afflicted by GM1.

The father’s explanation was that the proposed regimen was not a cure, but mitigated the progression.  He said his child received the treatment too late and that the treatment could not reverse the disease completely.  He said his child’s vision improved.  His child wore glasses and then no longer required them.  The father went as far as to say that his treatment helps infantile/Type 1 cases which are the most severe.  I asked if there were other GM1 families who could confirm these results.  He offered us one email address of a grandfather of a GM1 child in the US.  We managed to contact the grandfather who said his grandchild did not experience any benefit from the regimen.

We asked some doctors about the oral enzyme supplementation.  They were very doubtful it would be of any assistance.  The reason is that although beta-galactosidase is readily available, it is composed of molecules too large to cross the blood brain barrier.  GM1 is most problematic because of the effects on the brain and central nervous system.  Furthermore, the doctors said the enzyme would not be distributed in the body beyond the large intestine.  Nonetheless, the intriguing part of oral enzyme supplementation is something called the gut-brain link, the notion that the gut can influence the central nervous system.  There are also probiotics available that are sold based on the premise that they increase beta-galctosidase production in the gut.  We consulted a naturopathic doctor who thought enzyme supplementation from a known source in the US would be worth trying.

The father’s idea that his child should follow a lactose-free diet is because beta-galactosidase is the enzyme responsible for metabolizing galactose.  A major dietary source of galactose is lactose.  The idea is that reducing the intake of lactose might cause the body to require less beta-galactosidase.  Lactose-free milk sold to people with lactose-intolerance is created by adding beta-galactosidase to milk.  This particular idea seems logical from a layperson perspective.  If your body has a deficient supply of an enzyme used to metabolize galactose, it might not be a bad idea to avoid foods containing galactose.

The problem with this idea is that beta-galactosidase is also required to metabolize galactans.  Galactans are a type of complex carbohydrate contained in legumes, such as baked beans, kidney beans, chick peas, soy products and so on. Galactans are also present in green and yellow (wax) beans, cabbage and brussels sprouts and plant tissues.   Furthermore, galactose can be produced within the body through hydrolysis.

It’s very hard to eliminate all sources of galactose from the diet.  One doctor said galactose is required by the body, required for life.  Still, there is an interesting coincidence that we observed.  The clinical trial we are participating in combines the ketogenic diet and the medicine miglustat.  Due to the ketogenic diet, Iris consumes no lactose and hardly any vegetables, especially the ones with galactans.  This means that her consumption of lactose and galactans is extremely negligible.

Another interesting tidbit is that people who have a lactose intolerance take lactase.  A particular form of lactase is beta-galactosidase.  The enzyme that is deficient in GM1 is available in pharmacy’s everywhere at very minimal cost.  People take lactase supplements freely and without fear because it is effective in addressing lactose intolerance.  Finally,  this is likely unrelated, but curiously, Iris was lactose-intolerant as a baby.

Now onto discussing oral aloe supplementation.  Aloe drinks are widely available.  Aloe is an ancient treatment dating back to the dawn of civilization.  Still, there are definitely some warnings about ingesting aloe.  Most people think of it for topical usage, e.g., cuts, burns, itches, and bug bites.  Oral aloe is also a homeopathic remedy for constipation.

Interestingly, there is a publication from May 2013 in the Journal of Alzheimer’s Disease  that claimed that a mixture called Aloe Polymannose MultiNutrient Complex (APMC) reversed the effects of Alzheimer’s disease, a neurodegenerative condition just like GM1.  Aloe or mannose is thought to cross the blood brain barrier by some.  If you search around the internet, there are some people who claim diet, enzymes, and/or aloe cured them of horrible conditions such as cancer and autism.  Of course, these miraculous stories lack hard evidence and one has to wonder if such cases have been verified.  However, there is true science that ties mannose  to cellular trafficking and recycling in what is called the mannose-6-phosphate pathway.

The depth of our desperation to save our sweet girl is now completely evident.  Who in their right mind would go so far as to research all these claims?  We’re not scientists or doctors, but given such a rare disease, there are not a whole lot of people out there with whom to discuss all this.

Our palliative care team told us that people want to try things out because it  can be very difficult psychologically to do nothing.  One should be careful with all these decisions and consult doctors.  Finally, the reality is that even if a “cure” were to arrive tomorrow as an official clinical trial, it would most likely involve brain surgery and would be fraught with many unknowns and risk.  So many of these questions and issues are very interesting academically. However, when the life of a loved one is involved, it’s not academic.  It’s all very real.


Insurance, Insurance, Insurance and Miglustat


If you have never been faced with a very serious health condition, you might not think very much about health insurance.  In the United States, if you are fortunate, you have coverage through your job or you bought a policy on one of the new government web sites.  Hopefully, the benefits are reasonable.  You pay your copays, perhaps $25 or so  when you see the doctor for a physical.  Perhaps, you have a few prescriptions here or there, but nothing too major.  This was the way we were, extremely fortunate, somewhat naive and not overly concerned.  We had physicals once a year.  We did not really think all too deeply about the exact details of our health insurance policy.  Ignorance is bliss.

We believe our health benefits are good, even above average.  We continue to learn about our policy and the specifics of how we define good coverage.  Now with the Affordable Care Act,  the general population has probably learned a bit more about health insurance, shopping on the exchanges, and reading about the various policies and options.  Even in good health, I’m sure there are some people who pay careful attention to their insurance policies.  Kudos to those individuals!  It’s incredibly important.  GM1 is an extremely strong forcing function that emphasizes the importance of health insurance.

The most harrowing experience with our insurance so far was trying to get the coverage for miglustat for Iris.  Miglustat is not FDA-approved for GM1.  Our doctors told us that miglustat is possibly our one and only chance to slow down the progression of the disease.  It’s absolutely terrifying when obtaining a medication for your child is in the hands of an insurance company.  When we first started out on this journey, I was extremely poorly outfitted for battle.  I was armed with my flimsy insurance card and a 1-800 phone number.

The first group of doctors we saw after diagnosis recommended miglustat at the first appointment where we met them.  I had already read about it a bit.  Naively, I thought they would write a prescription and we would go home with the drug in hand.  This is absolutely not how things unfolded.  This is not Tylenol or an antibiotic.  This is a drug that costs more money than nearly anyone in the entire general population can afford.  No one can afford miglustat without insurance, except the fabulously wealthy.  To be specific, for the particular dosage recommended by our doctors, the cost is more than $1000 a day.  Perhaps your insurance gets a better rate than ours or perhaps you live in another country where the drug is cheaper.  Still, who can or would want to shell out the cost of this drug without insurance?

At the first appointment where the drug was mentioned, we were told that the next step was the confirmation of the diagnosis through DNA testing.  We were told that the DNA testing would take 16 weeks.  Before the DNA testing, we had 2 enzyme panels to confirm the diagnosis.  This particular team of doctors seemed to want to wait to prescribe the medication until those DNA tests were conducted.  In retrospect, perhaps they also wanted to give us the space the think about the prescription.  At that same appointment, the geneticist mentioned the names of three specialists whom he considered the best in the country with respect to GM1.

Hours after the appointment, I sat at my laptop, wracking my brain, trying to recall the names of the three specialists that were mentioned.  I emailed the other doctor who was present at the appointment to ask him for the names of the specialists.  He was the only doctor who gave me his email address.  Frankly, I know he later regretted giving me his email.  I barraged the poor doctor with questions.  Learning was my way of coping.

Unfortunately, he did not remember the names of the specialists either.  I started searching the internet for various doctors who specialize in lysosomal storage diseases, carefully perusing the names of the doctors.  Eventually, after hours of searching, I recalled all three names, using Google to prompt my memory.  I regretted not writing down the names at the appointment.  I like to believe that I am a relatively organized person.  The high level of emotional distress at these first appointments made it incredibly hard to process or remember anything.

16 weeks of waiting for a DNA panel before initiating treatment was simply too much for me to bear.  I contacted the specialist who was closest geographically.  We made an appointment to see the specialist in the Midwest, more than 1500 miles away and they promised to help us initiate treatment.  The first available appointment was approximately 8 weeks following the diagnosis.

It was the doctors in the Midwest who first initiated the request to get insurance coverage for miglustat.  In retrospect, I’m so grateful that we kicked off that process of getting insurance coverage before the DNA testing was complete.  The DNA testing took forever.  The insurance approval process to get miglustat took forever too.  The processes we endured were slower than any hospital dramatization on television would ever have you believe.

The first attempt at getting a prescription was immediately rejected.  Prior authorization was definitely in order.  For a drug as expensive as miglustat, of course, prior authorization is required.  We learned that we basically had 3 shots at getting an approval.  Think of it as three strikes and you are sh*t out of luck.  Reading the word “denied” was like twisting a knife in my gut.  The second appeal was also denied citing the lack of FDA-approval for the drug for GM1.  Denied.  Denied.  Twist.  Twist.  The doctors told us that for other patients and other companies, “sometimes is just goes straight through.”  Other families, other companies…

Our local neurologist tried to stay positive, telling us “insurance companies usually come around.”  What if we were in the group for whom the company does not “come around”?  Iris is already in that incredibly tiny minority of those diagnosed with GM1.  How could we have confidence that fate would not have its way with us again?

By the time the second denial rolled around, complete panic had set in.  I started to harbor a high level of animosity towards our insurance company.  Isn’t the purpose of health insurance to pay for extremely expensive drugs and procedures?  I frantically formulated a plan on how to get the drug approved.

Our first neurologist mentioned compassionate use, i.e., asking the drug company to just give the drug to us.  This involved consulting another family in England who had obtained the drug directly from the pharmaceutical company and consulting their physician.  I was told that the CEO of the company is a good man, but otherwise, I was not sure how to proceed.  I contacted the company directly via an online form and spoke to someone on the phone who told me to ask our doctors about working with their specific compassionate use program.

I consulted one of the doctors in the Midwest about compassionate use.  The doctors in the Midwest had a ton of experience with getting the approvals.  Still, by the time I mentioned compassionate use and the second denial had occurred, those very same doctors told us that prayers were in order.  The prospects of getting the drug were waning.  Visions of selling every belonging we own to get the drug kept me up at night.

I contacted a patient advocacy organization and enlisted their help.  I started nagging all of our local doctors for letters of support to supply to the insurance company.  I sent a cute picture of Iris to be included in the appeal.  I wanted the insurance company to see the face of a little girl who needed this medicine as opposed to just seeing the black and white type of her medical records.

Through the patient advocate, supporting materials and letters were submitted from the National Institute of Health.  For the third and final appeal, an external review, in summary, we submitted 3 letters of support from our local doctors, a letter of support from the patient advocacy group, and we submitted the materials from the NIH.  The doctors from the Midwest included more than one hundred pages of materials that included medical records and relevant research.  All the documents were sent via certified mail.  The team in charge of the appeals said that in the past, appeals had been lost or the insurance companies claimed to have never received them.

The excruciating wait continued.

Ultimately, our primary insurance approved coverage.  We prevailed.  The third appeal was successful.  The external review panel approved the coverage in December 2013, 4 months after diagnosis.  Our primary insurance company conveniently neglected to tell us that they approved the coverage.  It was not until I called them for the n-th time in January that someone actually told me the coverage had been approved in early December.  I had to request a letter to document the official approval.  That letter did not arrive until the end of January.

I never realized the extent to which the parents are responsible for advocating for their children.   Of course, I have some inkling.  I am a responsible person and parent.   Still, somehow the extent of my role in navigating the healthcare system surprised me.  I was somewhat shocked when one of our main doctors told me that I am the one in the driver’s seat.   I never imagined the herculean effort that is required to manage this process.   The sheer number of emails and phone calls exhausted me.  We are so grateful that all the blood, sweat and tears yielded an approval.

Do not take your health insurance for granted.  Do not take your health for granted.  If your insurance company denies coverage, ask again and ask again.  Ask as many ways as you know how.  Do not stop until you get what you need for your child.