Wednesday, March 5, 2014

Jake and Owen's story #Galactosemia around the World #England #United Kingdom {#Newbornscreening}

Welcome to the fifth Galactosemia around the World post.  Fingers crossed - that we all get to meet more people from around the world who have been affected by Classic Galactosemia.  You may know that Classic Galactosemia is a rare metabolic disorder that must be treated immediately.  Treatment is the elimination of  Galactose {a long milk sugar} from the diet and it must be started immediately.  Time cannot be wasted and yes, this also means that the babies cannot be nursed it can be deadly.  Yes, Galactose is present in breast milk and therefore the babies diet must immediately be switched to a  non-dairy formula.  Individuals with Classic Galactosemia must follow their treatment plan i.e. elimination of Galactose from animal sources for life.  Classic Galactosemia is a rare disorder {or disease if you prefer the term} - one of the frustrating parts about treatment {diet} is that there are many regional differences in the foods allowed.

Classic Galactosemia is detected through the newborn screening test.  Unfortunately this life saving test is not available in every country and therefore the outcome sadly varies greatly throughout the world.  In this series we have so far met Lisa from Italy in November, we met Skadi from Berlin in December,  Kai from North Rhine-Westphalia, Germany in January and in February we met Fabian from the Hessla region in Germany.   All of the children we met so far share a common thread; their Classic Galactosemia was detected by newborn screening.  The story of Jake and Owen  is sadly very different because Galactosemia is not on the newborn screening panel in the United Kingdom.  Jake saved his brother's life.

Here is their story.  Following a rather easy first pregnancy Jake was born two weeks early to Donna and Jon in Staffordshire, England.  Jake was nursed but soon became very, very ill.  The treating physicians did not know what was wrong with him.  Everything was tried and sadly Jake passed when he was only seven days old.  The reason why Jake died was not known until after several months of testing was completed. Only then did Donna and John find out that their beautiful baby boy died because he had Classic Galactosemia.  The built up of Galactose was toxic to his system and subsequently caused his organs to fail.   Classic Galactosemia is a genetic disorder and as such both parents are carriers of the gene. Therefore there is a 1:4 chance that a baby will have Classic Galactosemia.

Donna and Jon wanted to have more children, and Owen was born two years after Jake.  Throughout her second pregnancy Donna was understandbably nervous and stressed.   Owen was born at 40 weeks arriving on his due date.  Right after birth the cord blood was immediately tested for Classic Galactosemia. Owen was fed only Soy formula.  On day four of Owen's life Donna and Jon were given his diagnosis of Classic Galactosemia. The only reason Owen was tested for Classic Galactosemia was because his big brother Jake died. It saved his life.

When Owen was two years old,  Callum joined the family.  Again right after birth the cord blood was tested and Callum drank only Soy formula.  On day four Donna and Jon found out that Callum does not have Classic Galactosemia.  He is however a carrier of the gene just like his parents.

When Owen was a toddler his parents taught him all about which foods he could not have.  Donna used plastic toy food to teach him what was not safe for him.  He also only ate foods that his parents gave him.   Today, Owen drinks Soy milk and gets his daily dose of extra calcium with a tablet.  He is allowed to eat all fruits, vegetables, beans, legumes, cheese, meat and fish.  Owen  however does not like beans, legumes, cheese and the only fruit he likes are apples :) His all time favorite is Chinese food.
Owen is a very good reader and does well in school.  He loves to play with any electronic devices….

My heart goes out to Donna and Jon;  I cannot imagine the pain they have endured having lost a child just because England does not test for Galactosemia on their newborn screening panel.  It is really inconceivable Galactosemia would not be on the newborn screening panel.  How can that be?

Do you want to share your family's story?  Please feel to contact me at germanpdx (at) gmail . com


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