Forum Guidelines: 

This site is not intended to replace the advice of a medical professional, so please do not use the forum to get guidance on clinical, medical issues.  

Please be courteous and do not use obscenity or engage in personal attacks.  This site is overseen by a moderator, and she may delete a comment or restrict your access to the site.  If you have a question, please feel free to send a message  to us and the Leukodystrophy Family Forum moderator will  respond and provide assistance.   We do reserve the right to remove a posting. 

Maria Kefalas
Aug 8, 2017

Lessons from Charlie Gard


Edited: Aug 10, 2017

I have been following the Charlie Gard case with intense interest, and I failed to get any of my letters and op-ed published, so I am sharing this here.


First, I really struggle with how the media and the public equate hospice care with giving up. My daughter Cal has received hospice for 4 years, and her dad and I work really hard every day to make her life beautiful and free of pain. In all that time, we have never used morphine. We read stories and sing songs and watch her favorite shows. I hold her for about 4 or 5 hours every day, and she sleeps with us in our bed a few nights a week.


But, because we are not in active treatment for a cure and we know Cal is going to die and that she is in the advanced stages of MLD. Doctors are so focussed on curing kids we also need to remind her doctors and medical team that we need to consider the costs and benefits of each decision for her care. While the standard protocol for an infection might be a round of antibiotics through an IV, we have to remind the team that Cal can't tolerate medications and Cal is so delicate that an IV might lead to an infiltration which would make her sicker and even kill her. We don't use orthopedic braces or physicial therapy because such treatments would cause Cal pain and discomfort and while it would nice for her spine to be straight, if the curvature in the spine doesn't impact her breathing or cause her pain, we won't intervene.


A few weeks ago, I had to explain to a new resident that she needed to understand not every kids gets betters, so you need to put aside the medical training that calls on a doctor to "do everything that is possible." My philosophy is less is more, sometimes I want to hand out t-shirts with that message for Cal's doctors because they always just want to do more testing and more bloods and more x-ray. I must remind them, "so what are you going to discover with all this effort. Are we going to make you feel more comfortable by following protocol and reducing doubt, or is this treatment plan going to help Cal?"


The other thing that bothers me is that something went terribly wrong with the Gard case. Communication broke down between the doctors and the family, and this is something that needs to be addressed. Doctors and patient families don't always start off in the same place, and so, it is important to have the sort of relationship with your team to make your case and argue for your point of view.


And, on the flip side, doctors have a perspective and viewpoint parents need to consider. Parents' desire not to give up and seek out every treatment option is not the only way to care for a child. At the same time, parents like me are crazy and highly susceptible to the magical thinking that a miracle might happen if we don't give up, if we fight to the bitter end. We all want to believe all parents know what it is best for a child. That's simply not true, we all know of situations where a parent's love for a child is not enough to guarantee the best outcomes.


Parents like me are frightened, furious, and act like cornered, panicked animals.

It's not easy to reason with us or listen to us or even be around us.



Personally, my own courageous mom persona is pure performance. There is part of me that is so deranged and out of control, there is part of me that wants to curse out the doctors and nurses and punch a hole in the wall and spend the rest of my life walking around in my pajamas and never comb my hair or take regular showers.


The last time Cal was in the ICU, after I would force myself to be civil during morning rounds, I would head down to the CHOP cafeteria, in my pajamas, no bra, wearing slippers and eat Oreos. And when no one was around, I would go into the shower and cry so much I would dry heave. I cursed God, spoke to ghosts, and had nothing but hate for people whose only offense against was that they to take their children to school and go shoe shopping with them. Let me be very clear, organizing galas is just a way to keep my inner bag-lady under wraps.


Let me just say, I understand the madness of grief. The thing is, I also have faith that if the doctors believe a parent is out of control, reckless, self-destructive, and embarking on a path that will make a child suffer for no good reason, I know they will intervene. I would hope that the doctors who care for Cal would fight for her if they believed Pat and me were so overwrought and deranged that we were making dangerous decisions. I know that there are situations where my ability to be the brave mom might slip away. It would be foolish not to accept that.


So, for me, Charlie Gard is not about the rights of the parents or the rights of the doctors, my guess is that it is about a breakdown of communications, the horror of grief, and good people being put in an impossible situation about how to help a child who is dying.


In five years of living of living with leukodystrophy, the only truth that applies to every parent is that you must make decisions that you can live with for the rest of your life.


Doctors must live the decisions they make as well.



Aug 8, 2017

This is beautiful, Maria, and I have to say I agree with everything you said. I too have moments where I just want to stay in my PJs and eat Oreos. It's exhausting putting on a positive face every day, but it's absolutely necessary for me to keep moving forward. I told a friend the other day that I stay busy to push away the sadness. It helps me keep moving forward. Hugs to you!!

Julie McCluskey
Aug 8, 2017

Beautiful piece, Maria, from a grandparent who has a grand-daughter with VWM, I know how it is for my daughter and the family to put on a happy face for the world sometimes. I agree with everything you say. Love and hugs

New Posts
  • wrwoodar
    Jul 20

    My son will be 3 yo in october and was diagnosed with spastic diplegia/CP about 2 months ago. Peds neuro ordered MRI to look for signs of CP and there turned out to be white matter injury worrisome for metachromatic leukodystrophy. He has always met his milestones aside from gross motor, primarily with balance and unsteady gait when walking. He does not jump or run but he seems to climb well. Fortunately at this point, he has not shown any regression of skills. Genetic tests are pending. If the tests are negative, has anyone ever encountered being told their child has leukodystrophy and it actually turned out to be CP? Thank you for you responses and support and God bless
  • April Garcia
    Jun 3

    I received a phone call 2 weeks ago from the Seating and Mobility Clinic asking if Jackson (our son) needed to make an appointment to have his adaptive stroller refitted. I told the representative that Jackson had Krabbe Disease and that he wasn’t with us anymore, that we had not been able to be with him since October of 2016. The representative apologized and said “I hope he is getting the care he needs” and we ended the call. Once I hung up I realized that due to my brokenness and inability to verbalize exactly where Jackson is I lead the representative to assume due to the Krabbe Disease that we were no longer able or willing to care for Jackson and that he was being cared for by someone else. I immediately called back and luckily got the same representative and explained that Jackson transferred to heaven and even though that information would not change anything within their company that I could not allow any misunderstanding that we ever gave up on Jackson or that we voluntarily let him go. The representative gasped with new understanding and offered heartfelt condolences. I hung up and let loose a silent soul shaking cry for 2 full minutes before returning back to work.
  • Maria Kefalas
    Jul 29, 2018

    Most days, the grueling routine of caring for a child with leukodystrohy takes a toll. But then, there are organizations and people who can make this journey just a little easier by seeing the beauty of kids with leukodystrophy and welcoming families into their home. The Philadelphia Eagles (and the amazing Julie Hirshey, the director of community relations for the Eagles) have been champions for kids with leukodystrophy and the Calliope Joy Foundation from the very start. We are so proud to host our biennial gala in 2019 at Lincoln Financial Field. And, we were thrilled to learn that the Eagles were hosting our friend Kendall, who has metachromatic leukodystrophy, at this year's Eagles training camp. This photo sums up the amazingness that the Eagles make possible for families in our region. We could not be more proud to work with this incredible organization. Thanks to Cindy Williamson for sharing this photo. Yah, that's Super Bowl MVP Nick Foles with our friend Kendall and her mom Cindy and pop-pop Stanley.

Together, We are stronger

© 2017 Leukodystrophy Family Forum . Proudly created by CAZ Media Design