Ellie's Rare Diagnosis

The day we received our daughter’s rare disease diagnosis profoundly changed our lives forever.  I remember hearing the geneticist tell us that our daughter, Ellie, had a condition called mucolipidosis II.  For a brief moment, I felt relieved.  I naively thought that because her condition had a name, there must be some treatment for it.  My relief quickly turned to despair as he continued to tell us that not only was there no treatment or cure, it was also terminal – likely in early childhood.  We left the office in a fog, with new appointments for our daughter and a cursory suggestion that we might want to “talk to someone.”

As it rightfully should be, the focus after that first appointment was on getting my daughter connected to the doctors and therapists she needed.  Other than my daughter’s pediatrician, no doctor ever asked how my husband and I were doing or provided us any mental health resources.  Yet, we were coping with the news that not only would our daughter not grow up the way we were anticipating, but that she wouldn’t grow up at all; that our new normal included frequent appointments with upwards of 10 specialists and weekly therapy from four different therapists; and that we now lived with a constant fear that any illness could prove fatal to Ellie.

Love and Loss

In a heartbeat, we were thrust into a world of grieving: grieving the loss of the life we expected and facing the life in front of us, grieving the knowledge that we would one day lose our daughter, grieving our chances to grow our family without medical intervention.  Maybe I’m jaded, but I think this is more than most people could, or should, be expected to withstand.

Trying to cope with a world turned upside down was more than I could handle on my own.  I never considered seeking out therapy until Ellie’s diagnosis, but it’s been one of the most valuable tools I could have given myself as I navigate these murky waters.   After we lost Ellie, we were connected with the Heartlight program through Lurie Children’s Hospital, which brings bereaved parents together to celebrate and remember their children.  I’ve rarely felt so deeply connected and understood by a group of people I barely know.  Our stories are all different but our love and loss are the same.  Through this group and through the help of my therapist, I have started to heal from an unimaginable loss.

To anyone who is dealing with a new diagnosis or struggling with an existing diagnosis, I see you. 

Please don’t be afraid to seek out help, especially if those resources haven’t been offered to you.  Prioritizing our own needs while caring for a child with a rare disease isn’t easy, but as parents, and as people, our well-being matters too.  Addressing my mental health needs wasn’t just a luxury, it was vital to my survival and I am grateful every day that I took that first step to get the help I needed.


If you or someone you know is struggling with their mental health, contact the Substance Abuse and Mental Health Services Administration (SAMHSA) Treatment Referral Helpline, 1-877-SAMHSA7 (1-877-726-4727) for general information on mental health and to locate treatment services in your area. Speak to a live person, Monday through Friday from 8 a.m. to 8 p.m. EST.

About Ashley Kenny

Ashley is a mom to three amazing kids, two who live in her home and her rare disease warrior, Ellie, who now lives in her heart.  Ellie was born with mucolipidosis II, a rare genetic disorder that prevents removal of certain types of cellular waste.  Today, May 15, is Mucolipidosis Awareness Day.  For more information on mucolipidosis, please visit the Yash Gandhi Foundation.

Ellie gained her angel wings on May 17, 2018 and is missed every day.  She was the happiest little girl and her joyful presence took over any room she entered.  Anyone who met Ellie instantly fell in love with her.  Since Ellie’s passing, Ashley and her family have a mission to share the joy Ellie brought (and continues) to bring to their lives by performing random acts of kindness for others.  Visit the Spreading Ellie’s Joy Facebook page to find out more about Ellie and to learn how you can get involved in spreading Ellie’s joy in your community. Due to current social distancing guidelines, we encourage you to engage in safe ways of sharing your random acts of kindness.  You can find some fun ways to perform virtual good deeds here.


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