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.