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Maria Kefalas
Aug 24, 2017

Jackson and Kenzie

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UPDATE #1 – WARNING: Long post

https://www.facebook.com/kenzie.daff?hc_ref=ARQXT1G7LF5OS_C3hu6kK2LIFUcoohrPTsb4sS5T2kUnZHNK6xLRIUQnzMMeJWKIV48&pnref=story

I’m so relieved to finally be here in Milan after months and months of uncertainty. I can feel in my bones that this is where we are supposed to be.

Thanks for all the messages we were sent asking if we arrived safely – we did and Jackson was an absolute dream to fly with. He literally slept 90% of the flight time and he didn’t shed a single tear. Simon and I actually got to watch a movie or two which was unexpected! We had a seat in between us and extra leg room with a bassinette, so that made the world of difference (especially for Simon).

We got to our hotel early on Friday morning. We stay in the single room until next Monday when they move me to the three bedroom apartment across the lake in preparation for mum, Charli and the girls arriving in October. An ex-pat who had been given out details left a care package in our room for us with all the essentials we need for a week, this was a very nice surprise after 20 odd hours of travelling. That same person has somehow managed to get our family access to the private pool facility near the hotel so we will be able to use this daily when the girls come. This will be so good for Kenzie particularly and act as hydrotherapy. We are so blessed to have so many people helping us on this journey.

The town is completely empty at the moment, apparently the Italians take holidays the last two weeks of August and head to the mountains. None of the small shops, cafes or restaurants are open until the end of the month and you can literally spend the entire day on the hotel grounds and not see another person. It’s a little unsettling, Simon and I have joked that it’s like we are in a zombie apocalypse and are the only survivors!

On Sunday we met with two volunteers from the Telethon program at the hospital. They kindly gave us a tour of the hospital, showed us how to walk there from our hotel and then showed us how to catch the bus and the train into the heart of Milan (which is only about 15mins away by car/ 30mins by train). We took advantage of the expert company and they showed us the sites. It was a really good day and it helped me to feel much more comfortable getting out and about, which is important considering Simon leaves in about a week and I’ll be here by myself for up to 5 weeks.

Early Monday morning we had our first meeting with the Doctors and Nurses at the hospital. We arrived at 9.00am and sat with the team for a 2.5 hour meeting (Jackson once again slept through the entire thing). We were given the run down of the treatment and everything is pretty much as we expected. We are actually pretty clued in on the whole transplant process given we have just gone through it in Perth with Kenzie, so even with the differences in treatment, they agree this will be a benefit to us over the coming months.

On Tuesday and Wednesday, Jackson underwent the first of a series of tests which are part of the ‘screening’ process (MRI, lumber puncture, ENG, Bloodwork etc). These results need to demonstrate that he is pre-symptomatic and therefore eligible for the therapy. While I am confident that he will pass it is still set to be an anxious wait for the confirmation. The Neurologist who examined him commented that he is slightly above average in his physical abilities for his age. They were also happy with how mobile he is and how fast / determined he is with his crawling and standing.

We spent a lot of time talking about Kenzie at this meeting to determine as best we can the predicted progression of the disease. This information is important to them to predict the likely age Jackson would develop symptoms. When I was explaining that Kenzie is now going to school, walking independently with the ability to pick things up off the floor and stand from seating they were very surprised and classified her disease progression as ‘atypical’ and very slow. This made me feel very happy. The slower the progression, the better obviously for Kenzie, but for Jackson it means that the gene therapy will hopefully start showing benefits (approximately 6-12mths) well before the predicted age of onset. The doctors have found that the more time there is between gene therapy and the predicted age of onset the greater the benefit. While it is not guaranteed that siblings will have the exact disease onset, it is my understanding it is likely to be similar.

The doctors did stress that Gene Therapy is not a cure, which we knew. This is experimental. Long-term side effects are unknown. Yes, there have been very favourable results over the last 7 years but the future is unknown, especially for Early Juvenile (EJ) MLD which is what they have classified Jackson as having. There is only 4 years of follow up data for pre-symptomatic EJ kids. EJ generally progresses much slower, so it will be a long time before they can confidently say that it has stopped disease onset.

The favourable results to date are what I am choosing to focus on. The neurologist today said ‘most of the gene therapy children are stable’. I keep replaying that over and over in my head.

Jackson will not go into Isolation until around the 7th of October, so we will be outpatients with a few short hospital stays for various tests and for the harvesting of his stem cells. They expect him to be in isolation for up to 6 weeks, following which he will be an outpatient for an unknown period of time. I anticipate we will be here until at least February.

The last few days have been very intense with a lot to take in. The team of Doctors and Nurses we met were absolutely lovely and so extremely thorough. I didn’t have a single question after the meeting – which, if you know me at all, is quite astounding! They are obviously very compassionate people who are genuinely invested in these MLD kids – this was evident from photograph collage on the wall of their offices with every single Gene Therapy child since 2010. Jackson is in very good hands.

We don’t have to be back at the hospital until Monday morning for a psychological evaluation for Jackson. This is a well timed break for us all, especially little Jackson who is a little under the weather today. He has been poked and prodded a lot in the last few days, and while he has taken it all in his stride like a little champion, it was bound to take a toll.

Simon is flying back to Perth on 30th of August and is very much looking forward to seeing his girls but very sad at the thought of not seeing Jackson for a few months.

The girls are enjoying their time with Nanna and have been smiling and laughing during our daily chats. I’m so grateful they feel so at home and comfortable with my mum and that this change has not had too much of an emotional impact. I miss them a lot but seeing that them so happy makes it much easier.

Kenzie is doing really well with her therapy. Her physio did another assessment on her last week. She scored a 50/56 for her balance and walking - that is only 6points of a perfect score which is a huge improvement from the 42/56 she scored only 6 weeks prior. She continues to amaze me and the fact she is doing so well makes it so much easier to be here, where i need to be. Little Ashlee has been pretty sick with the flu the last week but seems to be on the mend.

Thanks for taking such good care of them mum - we would be lost without you.

I will try to update you all frequently, I apologise if I haven’t replied to your messages or emails.

Thank you for keeping us all in your thoughts. It means the world.

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  • 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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