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

Please meet Fabian - #Galactosemia around the World #Germany {#Newbornscreening}

Welcome to the fourth Galactosemia around the World post.  Fingers crossed - that we all get to meet more people from around the world who are living with Classic Galactosemia.  Classic Galactosemia is a rare metabolic disorder which must be treated immediately by eliminating Galactose {a long milk sugar} from the diet.  Treatment must start as soon as the baby is diagnosed as otherwise the consequences can be deadly. For treatment babies drink non-dairy formula, as galactose is present in breast milk.  Treatment by elimination of Galactose from animal sources for individuals with Classic Galactosemia must continue for life. One of the tricky part about the diet is that the many regional differences in allowed foods.   Unfortunately not only treatment of this disorder varies greatly throughout the world, and even in the United States but also the detection through newborn screening.  In this series we have  met Lisa from Italy in November, we met Skadi from Berlin in December, and in January we Kai from North Rhine-Westphalia, Germany.  Today please meet Fabian from the Hessla region in Germany.  Please contact me if you are interested in being featured {germanpdx (at) gmail . com}

Now, please meet Fabian a happy and healthy three year old.  He lives his parents Katharina and Sven in the Hessla region of Germany and will become a big brother later on this year.

Katharina's pregnancy with Fabian was without any issues and he was born in 2010 by scheduled C-Section.  Newborn Fabian nursed without any problems right after birth, he did however spit up a lot.  Katahrina was told that spitting up by her baby was not an issue.  The newborn screening test was performed 36 hours after birth.  While filling out the paperwork for the test Katharina remembers telling her husband  "I never heard of any of these obscure disorders…"

 On day three of life Fabian became jaundiced.  Again, Katharina and Sven were assured that this was not unusual and were told "all boys turn yellow".  The test of Fabian's Billiruben test however reveled that his levels were highly elevated and he was immediately moved to the Nursery floor.  Katharina and Sven did not understand what was happening.  They were told, that with treatment under the lights Fabian's Billiruben levels should come down.  This did not happen and by day 4 of life Fabian was lethargic.  He no longer ate, his Billiruben levels increased, and his liver as well as kidney functions went - for lack of better term - crazy.  Katharina pumped breast milk, and Fabian was fed by GA tube.   His health deteriorated and by evening Fabian was transferred to the Pediatric Intensive Care Unit (PICU).  The physicians contacted pediatricians at specialized University clinics in Hannover, Heidelberg, and Gießen - they did not know what could be wrong with him.  Fabian was supposed to be put on dialysis on day 5 but he was too ill.  Katharina and Sven were told to stay the night with him.  Nobody knew what was happening and why Fabian's organs were failing.  Katharina and Sven held their baby the entire night - Fabian was so very ill. Then on day 6 Fabian's newborn screening results were called into the hospital. The test result revealed a positive reading for Galactosemia.  The physicians were astonished.  In medical school they had heard about Galactosemia, but none of the physicians in this hospital had never seen a patient with this disorder.

Fabian's feeding was immediately switched to a Soy formula; he improved almost immediately and after 4 additional days in the PICU he was transferred back to the regular Nursery where he stayed for another week.

Today Fabian is treated by the Metabolic Clinic of the University of Gießen and his GALT levels are currently tested on a quarterly basis.   In his diet Fabian is allowed to eat all vegetables, fruits, legumes,  cheeses that are aged at least for 3 weeks and also items containing clarified butter (Butterreinfette).  Katharina has found the dietician at their Metabolic Clinic in Gießen as a great help.  However, find the exchange with other parents the most helpful.  Katharina and her family met our friend Ulrike with her family (Skadi's family) for a weekend where they had many questions answered.  Katharina would like to thank Ulrike for all her support and help :)

Fabian goes to Kindergarten (Preschool) and Katharina made sure to educate all the teachers as well as other parents about Galactosemia and which foods he is not allowed to eat. At snack time the teachers make sure that the kids do not share any food.  Birthday's are always a big deal and children bring treats from home; to make sure that Fabian is included Katharina connects with the other parent and determine whether or not he can eat the specific treat.  If needed Katharina makes him a "safe" version of the treat. It is amazing that Fabian, even so he is only three years old, is well aware that he cannot have milk.

Please meet Kai - #Galactosemia around the world #Germany {#Newbornscreening}

Welcome to the Galactosemia around the world kick-off post for 2014.  This is the third of - fingers crossed - many more to follow in 2014;  it is my goal for you to meet people from around the world who are living with Classic Galactosemia.  Once this disorder is diagnosed treatment must be immediately begin.  Treatment for  Classic Galactosemia is the elimination of Galactose {a long milk sugar} from the diet.  The baby must be immediately put on Soy formula, as galactose is also present in breast milk and can be deadly.  As the babies grow the elimination of Galactose from animal sources must continue. The tricky part about the diet is the many regional differences in recommendation etc. Not only treatment varies greatly, but also detection through newborn screening. Please contact me if you are interested in being featured {germanpdx (at) gmail . com}

In November Lisa from Italy was featured, in December you met Skadi from Berlin, and today please meet Kai.  Kai is three years old and lives with his Mama Stephanie, his Papa Dirk and sister Kira in North Rhine-Westphalia, Germany.

After a pregnancy with a couple of hick-ups Kai joined his big sister Kira ; the very next day Kai came down with a fever.  He was moved to the children's floor of the hospital.  Stephanie nursed Kai without any problems; he however drank very little and therefore a feeding tube was inserted.  By the third day of his life Kai had lost a lot of weight, and was jaundiced {yellow}.  The medical team became concerned decided to immediately perform the his newborn screen test and rushed.  Luckily the result  - positive for Classic Galactosemia - came back the very next day.  Kai was four days old.  His liver enzymes were very dangerously high elevated and Kai was immediately transferred to another hospital with a Pediatric Intensive Care Unit {"PICU"}.  Stephanie had to immediately stop nursing Kai and he was put on Soy formula.  Kai recovered fairly quickly and his family was able to take their new baby home when he was three weeks old.

Today, Kai is a happy and healthy three year old. The family is cared for by the metabolic team in Düsseldorf and he is allowed to eat cheeses that have a   carbohydrate level below 0.1 g.  Kai is allowed foods containing clarified butter {butter oil/Butterreinfett}, milk protein, in addition to all fruits, vegetables, beans, and legumes.

Even so Kai is only three years old he already knows safe foods from unsafe foods. The family does not only keep "safe" foods in their fridge but Kai knows exactly which pudding to grab :) .  When out he always declines food from others and waits until his parents give the "green light".  Kai does understand that he cannot eat certain things containing milk as they would make him sick!

Please meet Skadi - #Galactosemia around the world #Germany {#Newbornscreening}

This is the second post of - hopefully - many others; last month you were introduced to Lisa from Italy. With this series I want you  to meet people from around the world who are living with Classic Galactosemia.  Ten years ago, Classic Galactosemia was something I had never heard about and when Alena was diagnosed it was obscure.  And yes, I wanted to know what with this disorder was like. Once we learned about the treatment {=diet} and the regional treatment differences it got even more confusing.  Not only treatment varies greatly, but also detection through the newborn screening tests varies.  Now without any further ado, please meet Skadi and her family.

Skadi lives in Germany's capital Berlin with her Mom, Dad, and little sister.  I first met Skadi's Mom Ulrike via the internet back in late 2006.  At this time, I am not sure if we originally met through the German Galactosemia support group or just by chance online.  All of us met in 2008 in Berlin where Skadi with her family showed us many of the great sights of the German capitol.

Now are you ready to get to know Skadi and hear her story as told to me by her Mom, Ulrike.

First picture of Skadi and her Daddy

Ulrike had an easy pregnancy with Skadi and she was born on a Wednesday in Berlin, on Friday the hospital performed the heel prick {newborn screen}.  Mom and baby Skadi went home to join Dad on Saturday.   They went on to enjoy the weekend but on Monday - not quite three days after the heel prick -  they received a call from the Charite Hospital where Skadi was born.  Ulrike was told that the newborn screen for Skadi had come back with a positive for Galactosemia.  They were asked to return to the hospital immediately as the clinicians wanted to run additional tests right away.   At the hospital Skadi was immediately admitted and additional tests were run.  The tests were not conclusive as to whether Skadi had Duarte or Classic Galactosemia. On Tuesday the family was sent back home and Ulrike was told to alternate breastfeeding with Soy Formula.   On Wednesday - Skadi was exatctly one week old - Charite Hospital called again and asked they return to the hospital.  They have received a conclusive positive for Classic Galactosemia and Skadi was readmitted to the hospital.  She became jaundiced and was transferred to the Pedicatric ICU.  Her food was changed to Soy Formula. Her condition improved and after about a week Skadi was able to come back home.

At first - like probably most of us - Ulrike was upset as she had never heard of this strange disorder called Classic Galactosemia.  Through the metabolic clinic at Charite she was put in touch with another family whose child also had Classic Galactosemia.  That mother was able to give Ulrike much of the information she was longing for.  What was life, the diet for kids with Classic Galactosemia like? Today both families remain friends.

Skadi is now a healthy 2nd grader; she loves to sing, dance, draw, and make crafts.  You know, a regular girl...

Skadi and her Mama in 2013

When not eating at home, Skadi always asks if the food is safe for her, just like our kids she knows exactly what she cannot eat.  She does - just like all kids - get sad when there is no treat that is safe for her but gets over it quickly just as long as no comments such as "oh, that poor child" are made. Skadi is managed through metabolic clinic at Charite Hospital in Berlin; her diet includes - just like our kids - all fruits, vegetables, beans, legumes, and cheeses. In regards to diet, Skadi's metabolic clinic now allows cheeses that have aged for only three weeks.

Are you interested in being featured?  If so, please contact me by sending an email to germanpdx (at) gmail(dot)com

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Please meet Lisa - #Galactosemia around the world #Italy {#Newbornscreening}

This is the first post of - hopefully - many others;  I want you all to meet people around the world who are living with Classic Galactosemia.  Ten years ago, Classic Galactosemia was something I had never heard about and when Alena was diagnosed it was obscure.  And yes, I wanted to know what with this disorder was like. Once we learned about the treatment {=diet} and the regional treatment differences it got even more confusing. But yes, you are right this is not what this post is about...

Karin & Eberhard

We first met Lisa and her family in the summer of 2008.  It was the girl's first trip to Alto Adige {Northern Italy} and I had communicated ahead of time with Lisa's Mom, to figure out "safe" foods etc.  You can say we were still novices as both girls were very young.  Karin and Eberhard {Lisa's parents} taught us that you must keep "unsafe" foods in the house, that the kids must learn that not everything at the table is safe for them to eat, and that it is okay to order "unsafe" food for yourself because the kids need to learn that not every food can be shared.  It was the best lesson learned and I will always be thankful to our friends; Karin and Eberhard know because both Lisa and Philip have Classic Galactosemia.   Since then we have met up again once in 2010 for a brief visit in Alto Adige, and again this year when we were able to spend quite a bit of time together.  It is at that time when Karin told me Lisa's story.

Ron, Lisa, Eberhard, Philip, Karin, Mia Rose, me, and Alena

Lisa was born in Brixen; she was jaundiced when released from the hospital and the parents were told not to worry "it happens from time to time, but she will get better".  She did not get better and the parents brought Lisa back to the hospital to be evaluated "she is fine" was the word and they were sent home again.  The next day, having a gut feeling that something was just not right, Karin and Eberhard returnd to the clinic.  A pediatrician recognized the life threatening situation and put Lisa her immediately in the PICU.  They had come back to the hospital just in time; Lisa recovered and soon the pediatrician had Karin nurse Lisa again. Lisa got sick again and it was at that time that her newborn screen test results came back showing a positive for "Galactosemia".  Lisa was immediately put on soy formula; she was a patient at the metabolic clinic in Innsbruck and follows the same diet our girls are following.  You know, avoid all dairy except for aged cheeses such as Parmesiano Regiano, Gruyere, Emmenthaler, etc. both Lisa as well as Philip also eat all fruits, and vegetables.

Today, Lisa is a beautiful teenager - let me tell you both of our children absolutely love her as she spent so much time playing with them.  When we were visiting Karin made Tiramisu for the cow eating folk and Lisa made a "safe" Tiramisu for the kids.  It was delicious and it is obvious that cooking as well baking is one of Lisa's hobbies.

Lisa showing off Galactosemia safe Tiramisu

In her free time away from school and homework Lisa likes to go swimming and skiing.  She loves to spend time with her friends and every so often they all go out for ice cream at one of the cafes. "I always ask whether it is is safe and  eat sorbet" she says;  Lisa also likes to read and listen to music.

When she grows up she wants to pursue a degree in early childhood education.  As I can attest she is great with young children.

Are you interested in being featured?  If so, please contact me by sending an email to germanpdx (at) gmail(dot)com