Hello all,

Yesterday was a bit of a downer for Mom and Dad, as the paediatrician delivered news about my yellow condition. It turns out I have one of three possible liver conditions, which, believe it or not, are as rare as my arteriovenous malformation (AVM), is afflicting me. The chances of my having AVM as well as one of the liver conditions listed below are a gazillion in one! A sample of my urine will be sent to laboratories in Potchefstroom to confirm if I do indeed have one of these conditions, and if so which one.

The three conditions that afflict me are one of the following (in no particular order), which I will attempt to describe below in layman’s terms: galactosemia, tyrosinaemia, or hepatoblastoma.


What is it?

Galactosemia is a hereditary disorder that afflicts the liver owing to the liver’s inability to convert galactose, which is a sugar contained in milk (including mother’s milk) into glucose. It’s considered a disorder of carbohydrate metabolism, which occurs as a result of a deficiency or absence of an enzyme called galactose-1-phosphate uridyl transferase, which is necessary for this conversion process. The effect of galactosemia results in an accumulation of galactose. This effect can cause serious complications such as an enlarged liver, kidney failure, cataracts in the eyes and even brain damage.

It comes from a gene defect for galactosemia is a recessive genetic trait. This faulty gene only emerges when two carriers have children together and pass it to their offspring. For each pregnancy of two such carriers, there is a 25% chance that the child will be born with the disease and a 50% chance that the child will be a carrier for the gene defect

How do we deal with it?

There is no cure for galactosemia, and scientists have not yet developed a chemical substitute or drug that emulates the work of this enzyme. If I am afflicted with this condition it means that I will live a normal life, but will have to maintain a lactose and galactose free diet. This is not the same as lactose intolerant that many people suffer from.


What is it?

Tyrosinaemia (sometimes spelt tyrosinemia) is also a genetic disorder which is characterised by elevated blood levels of the amino acid tyrosine, which is the building block of most proteins. Tyrosinaemia is caused by the shortage or deficiency of one of the enzymes (fumarylacetoacetate hydrolase or FAH for short) required for the multi-step process that breaks down tyrosine in my liver. If tyrosine and its by-products build up in my tissues and organs it could lead to serious medical conditions such as liver disease.

It must be noted that there are three types of tyrosinaemia, and each one has different pathologies and treatments. So until my lab test results come back, I cannot speculate as to the severity or prognosis of my tyrosinaemia, if that is the condition that I have.

How do we deal with it?

As per galactosemia, it could be managed by diet, but as a last resort, and dependant on whether it is Type I, II or III tyrosinaemia, it may require a liver transplant.


What is it?

Hepatoblastoma is a type of liver cancer that afflicts newborns and young babies. Who ever thought that you could be born with cancer? Well, this is the last of the three possible conditions that I’m suffering from. As per any cancer, there is the usual risk that the afflicted organ stops functioning properly, right through to the cancer metastasising.

How to deal with it?

As with any cancer, the options are from resection of the offending tumour, to liver transplant, to chemotherapy.


As per all my previous requests, please keep me in your thoughts and prayers, and continue sending me all the positive and healing energy that you have been doing.



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4 Comments on What are the chances?

  1. Gillian says:

    Hi Guys

    You are really testing the prayer chains, spirit guides and guardian angels and making them work hard for their miracles aren’t you. But they like a challenge especially my mothers prayer chain 🙂 gives her something to work on.

    Can’t believe that this is another cruel twist of fate that you are being asked to deal with as if you haven’t been through enough already. And what are the chances that it is one of those freaky things that if two people have a child …… quite unbelievable.

    As I said in response to one of the first blogs, this parenting thing is one of the most difficult things we go through. It is at times really difficult – emotional, frustrating and completely gut wrenching.

    But on the up side it is so rewarding as you will see when you get through all these bumps in the road. For most of us we are never tested or challenged like this -I think if we were there would be fewer children born in the world.

    My Mother always said that “God only gives you what you can deal with”. I sincerely hope that He is now done giving you things to worry about and from here on out it will be smooth sailing with decisions about which schools, which sports etc.

    Always on our minds and in our prayers

    Gillian, Oliver, Ryan and Kirsten

  2. Claire says:

    Jarrod, you and your folks are permanently in our prayers. You have a great medical team and awesome parents taking care of you. I trust that they will be guided by God and find the best way to help you. Be strong, little man.

  3. Lisle says:

    Jarrod. My heart sinks to my shoes everytime I get an e-mail from you. Your latest news is very concerning, and I am sure your parents are emotionally exhausted anticipating the different options. I pray your results arrive soon, so that your team know exactly what you are dealing with. Be courageous, for every baby step you take, God will walk with you. You remain and inspiration to me……

  4. The LORD bless you
    and keep you;
    The LORD make his face shine upon you
    and be gracious to you;
    the LORD turn his face toward you
    and give you peace
    Numbers 6:24-26

    Just to let you know Jarrod is constantly in our thoughts and prayers. He is a beautiful boy and doing so well, we pray for strength for you to get through this latest setback. God bless
    Love and blessings
    Ally & Steve Sacchetti and family

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