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How is Iris?

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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.

 

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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.

 

 

 

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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.

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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.

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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.

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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.

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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.

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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.

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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.