by Liam Croy

A Perth family devastated by a rare genetic disorder has been thrown a lifeline by a world-leading research program in Italy.

Simon and Samantha Daff were at their lowest ebb in November when their newborn son Jackson was diagnosed with metachromatic leukodystrophy. 

The heartbreaking news came weeks after they learnt their eldest daughter Mackenzie, 4, had the disease.

The shock of Mackenzie’s diagnosis was compounded by the uncertainty it cast over the impending birth of their son.

An estimated one in 40,000 children are born with MLD, a cruel degenerative condition with no known cure. Both parents must carry the defective gene and even then it will only affect one in four children.

It destroys the body’s myelin sheath, a membrane which insulates nerves. A breakdown in communication between the brain and the nerves leads to a cruel and debilitating progression.

Children with late infantile MLD are expected to live to five, while the juvenile form gives them 10 to 15 years after the onset of symptoms.

The Daffs’ worst fears were realised when tests confirmed Jackson was the second of their three children with MLD.

There seemed to be little hope for them when they spoke to The West Australian in November.

Mrs Daff had heard about a gene therapy trial for infants in Italy but she knew those treatments happened in 2010.

It was not until a US family reached out to them after reading their story that she realised Jackson could still be eligible.

“We spoke to a family in America who had three kids diagnosed with it,” Mrs Daff said.

“Two kids got gene therapy and they’re pretty much living symptom-free at seven years of age when their sibling passed away at about five.”

“They can’t tell us what’s going to happen in 10 years or 20 years because they’re the first ones to go through this but the results have been good enough for this compassionate use program to be set up.”

The Daffs made the difficult decision to hold off on a stemcell transplant for Jackson and pin their hopes on gene therapy.

It paid off this month when they got confirmation from the San Raffaele Hospital in Milan.

“We went from not sleeping at all to getting the news — I haven’t slept as good as I did that night in a while,” Mr Daff said.

It is understood Jackson will be the first Australian to receive the treatment. His procedure in Italy will be similar to the one Mackenzie had in Perth in February. Mackenzie’s stemcell transplant was made possible by another stroke of good luck, when scans showed the disease was yet to reach her brain.

She was admitted to hospital for chemotherapy on February 6 and left last month.

She showed her sense of humour last week by chiming in with a quick remark about her sister, Ashley, 2, when it appeared she was asleep on her father’s lap.

Read more at the SOURCE

43 thoughts on “Perth Family Confronts Metachromatic Leukodystrophy Diagnosis in Newborn”

  1. Great work! That is the kind of information that should be shared across the web.
    Shame on the seek engines for not positioning this post higher!
    Come on over and seek advice from my site . Thanks =)

  2. Hello to all, the contents present at this site are in fact awesome for
    people knowledge, well, keep up the nice work fellows.

  3. Wonderful goods from you, man. I have have in mind your
    stuff previous to and you are just too magnificent. I really like
    what you have got right here, certainly like what you are saying and the way during which you assert it.
    You’re making it entertaining and you still take care of to keep it
    sensible. I cant wait to learn far more from you. That is actually a tremendous
    site.

  4. Thanks , I have recently been searching for info approximately
    this subject for a long time and yours is the greatest I
    have found out till now. But, what about the bottom line?
    Are you sure about the supply?

  5. Hi, I do think this is an excellent website. I stumbledupon it 😉 I am going to come back once again since i have
    book-marked it. Money and freedom is the greatest way to change, may you
    be rich and continue to guide others.

  6. I really like reading through an article that can make men and women think.
    Also, thank you for allowing for me to comment!

  7. Asking questions are truly fastidious thing if
    you are not understanding anything entirely, but this post gives fastidious understanding
    yet.

  8. Write more, thats all I have to say. Literally, it seems as though you relied on the video to
    make your point. You clearly know what youre talking about, why throw away your intelligence on just posting videos to your blog when you could be
    giving us something informative to read?

  9. I am really loving the theme/design of your blog.
    Do you ever run into any web browser compatibility problems?
    A number of my blog audience have complained about my website not operating correctly in Explorer but looks
    great in Safari. Do you have any tips to help fix this problem?

  10. Hi there i am kavin, its my first occasion to commenting
    anyplace, when i read this article i thought i could also create comment due to this sensible paragraph.

  11. Good post. I learn something new and challenging on sites I stumbleupon on a
    daily basis. It’s always helpful to read articles from other authors and use
    a little something from other websites.

  12. tinyurl.com says:

    My brother suggested I may like this blog. He was once totally
    right. This post truly made my day. You cann’t imagine simply how so much time I had spent
    for this info! Thanks!

  13. What i do not realize is in reality how you’re not actually
    a lot more well-appreciated than you might be
    right now. You are so intelligent. You recognize thus significantly relating to this subject, made me in my
    opinion imagine it from a lot of varied angles. Its like women and men aren’t fascinated except
    it’s one thing to do with Woman gaga! Your individual stuffs nice.
    All the time care for it up!

  14. Quality posts is the important to attract the visitors to pay a quick visit the web site, that’s what this site
    is providing.

  15. Heya i am for the first time here. I found this board and I find It
    truly useful & it helped me out much. I hope to give something back and aid others like
    you helped me.

  16. Hello, all the time i used to check web site posts here early in the dawn, since i
    like to learn more and more.

  17. Hi! I simply wish to give you a huge thumbs up for
    the great info you have got right here on this post.
    I’ll be returning to your website for more soon.

  18. Hi there everyone, it’s my first visit at this web page, and post is actually fruitful for me,
    keep up posting these types of posts.

  19. quest bars says:

    We stumbled over here from a different page and thought
    I should check things out. I like what I see so now i am following you.
    Look forward to looking into your web page for a second time.

  20. I constantly spent my half an hour to read this website’s content all the time along with
    a cup of coffee.

  21. Excellent post however I was wanting to know if you could write a litte more on this subject?
    I’d be very thankful if you could elaborate a little
    bit further. Kudos!

  22. Hi, Neat post. There’s an issue along with your web site in web explorer, may test this?
    IE still is the market leader and a huge component to other folks will miss your excellent writing because of this problem.

  23. Interesting blog! Is your theme custom made or did you download it from somewhere?

    A design like yours with a few simple adjustements would really make my blog shine.
    Please let me know where you got your design. Bless you

  24. Hello, i think that i noticed you visited my blog so
    i came to go back the want?.I’m trying to to find issues to improve my web site!I guess its ok to make use of
    a few of your ideas!!

  25. There is certainly a great deal to find out about this issue.
    I like all of the points you’ve made.

  26. Good info. Lucky me I ran across your blog by chance (stumbleupon).
    I have book marked it for later!

  27. You should take part in a contest for one of the best sites on the web.
    I am going to recommend this blog!

  28. Hey! Do you use Twitter? I’d like to follow you if that would be okay.
    I’m absolutely enjoying your blog and look forward to new updates.

  29. You’re so interesting! I don’t believe I’ve
    read anything like this before. So good to discover somebody
    with original thoughts on this topic. Really.. many thanks for starting this up.
    This web site is something that’s needed on the web, someone with a little originality!

  30. you’re in point of fact a excellent webmaster. The website loading velocity is incredible.
    It kind of feels that you’re doing any unique trick.
    Also, The contents are masterpiece. you’ve done a wonderful job in this matter!

  31. natalielise says:

    Hello, I want to subscribe for this web site to take newest updates, so where can i do it please help out.

    plenty of fish natalielise

  32. When someone writes an post he/she keeps the plan of a user in his/her mind that how a user can understand it.
    Thus that’s why this article is perfect. Thanks!

  33. Hey there I am so delighted I found your site, I really found you by error, while I was searching on Digg
    for something else, Nonetheless I am here now and would just like to say thanks
    for a marvelous post and a all round enjoyable blog (I also love
    the theme/design), I don’t have time to read through it all at the moment but I have book-marked
    it and also added your RSS feeds, so when I have time I will be back to
    read a great deal more, Please do keep up the awesome work.

  34. dating site says:

    great points altogether, you simply received a new reader.
    What might you suggest about your put up that you made a few days ago?

    Any positive?

  35. May I just say what a comfort to uncover an individual who actually understands what they’re talking about on the internet.
    You actually know how to bring a problem to light and
    make it important. More people really need to read this and understand this side of your story.

    I was surprised you are not more popular given that
    you definitely possess the gift.

  36. Very good post! We will be linking to this great post on our site.
    Keep up the good writing.

  37. Hi there friends, nice paragraph and fastidious arguments
    commented here, I am truly enjoying by these. pof natalielise

  38. dating site says:

    Quality posts is the important to invite the viewers to go to see the website, that’s what this web
    page is providing.

  39. Good replies in return of this matter with solid arguments and telling
    the whole thing on the topic of that. natalielise pof

  40. What’s up it’s me, I am also visiting this web page daily, this website is really nice and the people are really sharing pleasant thoughts.

  41. Hi there, i read your blog occasionally and i own a similar one and i was
    just curious if you get a lot of spam responses? If so how do you stop it, any plugin or anything you can recommend?
    I get so much lately it’s driving me crazy so any assistance is very
    much appreciated.

  42. Excellent article. Keep posting such kind of information on your page.
    Im really impressed by your site.
    Hello there, You have performed a great job. I’ll certainly digg it and individually suggest to my friends.

    I’m sure they will be benefited from this website.

  43. Incredible quest there. What happened after? Take
    care!

Leave a Reply

Your email address will not be published.

X