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amyd.price
Sep 24, 2017

Our Hope and Healing

8 comments

Hello all,

My name is Amy Price and I am the new Outreach Coordinator for the Leukodystrophy Family Forum. Leukodystrophy came into our lives much like it did so many; sitting in a hospital room, hearing the word from a doctor for the first time. We have three children with Metachromatic Leukodystrophy. Liviana and Giovanni were diagnosed at the same time in 2010 after Liviana was presenting with symptoms. She was almost 3 years old and graced our lives (appropriately her middle name is Grace) until she was 5.5 years old. Giovanni was presymptomatic at diagnosis and became the 2nd child in the world to undergo Gene Therapy for MLD in Milan, Italy, at the age of 12 months. Our big surprise Cecilia was born in 2013 as an even bigger surprise, a triplet. She was subsequently diagnosed at 3 months old, and also underwent Gene Therapy in Italy, as patient #15.

 

I can share my experiences related to the healing, as we cared for, loved and nurtured Liviana through her time on earth with us. I can also share the attempted healing of the heart, having her no longer by my side. I bring everyone our story of Hope, in Giovanni, who is in 1st grade and an amazing, smart, active, soccer loving boy and Cecilia who is 3.5 and currently coloring pictures at the table in front of me.

 

Please feel free to reach out to me with questions. I want to help make the forum a place of comfort and support. If I cannot answer the question, I will do my best to guide you in the right direction.

 

 

AnaMaria Ispas
Sep 25, 2017

Hello Amy.

My little girl Sara was diagnosed with leukodystrophy this past august at ACH in Calgary.Canada.

Her Metabolics Genetics Dr send whole exom sequencing to Helsinki right away and waiting for results around Oct 10.So far her Team of Drs excluded all the most common and rare forms suspeting she suffers of an extremely rae form of leukodystropgy.to say i am heartbroken is the least.Sara is blind(severe bilateral optic nerve hypoplasia).nonverbal.exclusevly GTube fed and tons of other condtions.

Reading ypur story is giving me home.

May littlr Liviana RIP(love her name)and God bless your family and give you strenght always.will keep you in my prayers.💙💙💙💙💙💙💙💙

AnaMaria Ispas
Sep 25, 2017

Forgot to add she is 3years and 3months old

AnaMaria Ispas
Sep 25, 2017

 

 

aconn1986
Oct 5, 2017Edited: Oct 5, 2017

Hello! My name is Amber. My daughter Jordyn was diagnosed in 2015 with Alexander disease, 2 months shy of her 2nd birthday. We started a Facebook page, Jordyn's Beautiful Life, to spread awareness and keep everyone updated. My daughter is doing fantastic! She has physical therapy, speech, and OT in a school and outpatient setting. Thank you for reaching out. I look forward to getting to know you!

 

aconn1986
Oct 5, 2017

Can you post your contact info?

AnaMaria Ispas
Dec 2, 2017

Helloo.she is so beautiful.

Our fbook page is Sara's Journey and Hope for a cure.

AnaMaria Ispas
Dec 2, 2017

Please feel freee to follow our page💜❤

 

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.

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