It's #giveRARE #day - please support #newbornscreening {@screenbabies} today

NOTE: March 3rd, 2015 was the first "Give Rare" fundraiser event - I support newborn screening and the Save Babies Through Screening Foundation; the link in this post has been updated to the SBTS donation page.  Thank you!

Today is the first ever Rare disease giving day and this is an event near to my heart; both of our children have a rare disorder called Classic Galactosemia.  Statistically it effects about 1:60,000 newborns in the United States.  Galactosemia is detected through newborn screening and without early detection it can be fatal to the infant or lead to severe complications.  Alena most likely would not have survived E.Coli Mengengitis if her newborn screen would not have come back in time.

Our happy and healthy girls

Newborn screening saved her life and MiaRosie's life -> read our story here;  Jake and Owen's story tells about what happens without early detection.

As a newborn screening advocate I support the Save Babies Through Screening Foundation; an organization whose mission is to save babies by working to prevent disabilities and death resulting from disorders detectable through newbornscreening.  Would you please join me in supporting this great organization?

What is it about…and my favorite appetizers {#Galactosemia #Newbornscreening #dairfree #recipes}

Lately I have been thinking quite a bit about my little blog, where it's headed, and well also its purpose. Let me back up a little - yeeeeeesss people please just let me do it ;) ~  this blog, albeit under its old name Galactosemia in PDX, has been in existence since 2008.  I started blogging - upon dissolution of Galactosemia Support Northwest -  to share our journey;  talk about what it is like to raise children with a rare metabolic disorder and dietary restrictions in a positive way; plus life in general.   At the time Alena was 4 years old and Mia Rose not quite 2 years old; you can say we have learned a lot along the way.

One of the biggest reasons why I want to share our story and life is to give hope to all those with babies newly diagnosed with Classic Galactosemia.  It will be okay - really, believe me.  At first one is not able to see the forest through all the trees but once one comes to grips with the disorder it will be okay.  Sure there are challenges along the road, but heck everyone faces those in one way or another.  Show me the parent that does not worry about their child.  Now why did I start all of this,  I need to take you back to the time when Alena was fighting for her life.  When we had no clue, no idea, had never heard of such a disorder as Classic Galactosemia.  I remember sitting at the computer the NICU at Emmanuel Hospital provided to the parents (remember this is 11 years ago) searching the internet, hoping to find pictures, and stories of parents raising children with Classic Galactosemia.  All I wanted to know is what is their life like and yes - selfishly - what do kids with this disorder look like, what do they do, what will life be like.  Really, we had no idea and the information we found only presented worst case scenario.  So I hope that my little blog can provide hope, give strength to those newly diagnosed, those affected by Classic Galactosemia, be positive, and happy.

In our journey I soon came to understand that our little family would not be what it is today without Newborn Screening and shared our story.  You can say that I am an advocate for newborn screening because - this is not just sappy talk - without it Alena would not have survived.  MiaRose is our second born, so we already knew that there is a 1:4 chance for her to also be affected.  So, yes my other purpose to raise awareness for newborn screening, share our story, those of others saved by newborn screening in hopes that you all will learn about this life saving test and share it. And yes, advocate that all countries - such as the UK - to include testing for Classic Galactosemia in their newborn screening; please read Jake & Owen's story

Now, rightfully so you may ask what on earth does any of this have to do with food?  I am here to read about fooooood….. Good question!  Those affected by Classic Galactosemia lack an enzyme to metabolize galactose (a long milk sugar) into glucose and as such is a toxin for the body.  The only treatment for this disorder is through diet = food.  In infancy babies canNOT be breastfed but need soy, or other galactosefree formula; thereafter it is through regular diet.  The diet has changed a lot over the years, but no worries I will not go into this here but since diet = food this is where the food piece comes in.  Yes,  I love to cook and it was a steep learning curve but here we are 11 years later and to me it is second nature.  So the other purpose is to share our recipes.  All are 100% (ga)lactose free, most are dairy free (not all since aged cheeses such as Emmenthal, Gruyere etc. are "safe"),  some vegetarian and some vegan.  So yes,  the majority of the blog is about food and I hope to share with you all delicious recipes in hopes that you like them as much as we do.

Okay - now I talked a lot so here are some of our favorite appetizers that you can still pull off for New Years Eve.  Thank you so much for reading.
Smoked Sockeye Salmon Salad
Pineapple Salsa
Pinenut stuffed dates
Fleischkuechle (Swabian Mini Meatballs}
Lemon Sorbet in Prosecco

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.

Happy Saturday..musings

How is everyone?  Everything is good at our little house in PDX. The first couple of weeks of 2014 have already been full of excitement and you can probably tell by my lack of blogging super busy.  Yes, I know week 11 of my posts for the 12 weeks of Winter Squash is still missing.  Please do not give up on me yet.  Pretty please?!

Let me tell you about all of the excitement that has been happening.  For starters I was appointed to the State of Oregon Newborn Screening Advisory Council and have had my first meeting the second week of January.  The meeting was at the Oregon State Lab was very productive and I learned so much more about the test, the follow-up etc..  After the meeting I got to tour the actual lab where the test for the newbornscreen is conducted.  It was just me and the head of the lab for the Oregon Newbornscreening program.  Let me tell you,  for me it quite emotional to visit the lab, see the tests, etc. meet the people who work so hard every day to safe babies.  And yes, this is the lab where Alena's positive Galactosemia newbornscreen was detected.  This is what saved her life - this specific lab...Visiting the lab was really amazing.  Seeing all the cards, each being a life, each being tested.  It was truly amazing.

Mia Rose and her Daddy..

The other excitement - you may have already heard about it - is that I am going to New York City.  Yes, me - I will be going to the event celebrating 50 years of Gallo Family Vineyards Hearty Burgundy. This will be amazing - and you can follow me along on Twitter and/or Instagram plus you will meet my secret guest :). Super exciting, right?!

There is more, well this is really not extraordinary, we did went for the girls blood draw and took the tram to get to OHSU.  As you may imagine neither girl is excited to get her blood drawn, but with magic cream, the tram and my friend Larissa coming along it was fine.  Well, Alena almost passed out again after the draw but I think it is because she just works herself up so much...Strangely it does however not get easier for me.  Isn't it?! I feel so guilty when Mia Rose cries and screams because she is afraid of the needle which in the end in her words "I did not feel it at all". I also get worried with Alena working herself up so badly that she is  on the verge of passing out And yes, I know that one draw a couple of times a year is really, really not bad...so I really have to get over it.   And yes, the glass is always half full...

Thank you friends - I have not said it many times before but I am so grateful for every single one of you visiting my little blog.  Thank you - Danke!!!

Mia Rose, Alena & Larissa after the blood draw

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!

The year 2013 - Review, Thanks, Thoughts

Here it is the recap of 2013; a post that I have written many times over in my head but for some reason my thoughts did not transfer into a post.  Now why not?!  Okay - not funny I get it and really is anyone really interested in my 2013 recap?! Well, for one I just need it get it out of my head because otherwise it will languish there forever...just like many other posts that were never written this year;  posts that were perfectly scripted in my head and I just never typed out.  The good news is, well they are still in there and a New Year is coming.  Right?!  Who says that I cannot write those posts in 2014?  That is right, because this is my little blog...remember just like "It's my party and I cry if I want to" just rephrase it to "It's my blog and I write if I want to".  Oh, to those of you that do not know me in person I have this...well, let me call it for lack of other term gift, okay in a way it is a gift.  Now what?!  A gift - what on earth - alright I will not keep you in suspense any longer and will share with you what it is.  Well - this sounds odd - songs will pop into my head out of no where.  Really, there are certain phrases and then it happens like just now.  Aren't you glad you know this little tidbit about me now?!  I know, it is just what you always wanted to know...

Now I have gotten completely off track - 2013 the year in review;  let me focus on what I promised.  This year has been a really, really good year.  Our children as well as the rest of the family is healthy.  I am now the mother of a 10 year old and a 7 year old; Alena graduated from 3rd to 4th grade and Mia Rose graduated from 1st to 2nd grade.  That is hard to believe - were they not just in preschool?   I continue to be an avid advocate for Newborn Screening, and Alena and Mia Rosie's newborn screening story was featured in the Oregonian, and by APHL to celebrate the 50 year Anniversary of Newborn Screening.  Alena's story was featured in the Milwaukee Journal Sentinel and included in an outstanding investigative report shedding light on the terrible practice of batching Newborn Screening tests at the hospital before sending them on to the State Lab. See, some hospitals wait for a couple of days before sending the tests to the labs, some labs are closed on the weekends, and sadly the result comes back too late for some of the babies.  Galactosemia is just one of those conditions that need an immediate response and this article made me realize again just how lucky we are.   Newborn Screening saves lives, and it is so important that all expecting parents learn as much as they can about the test before their baby is delivered. My last tidbit on newborn screening advocacy is that I have been appointed to serve a two year term on the Oregon State Newborn Screening Advisory Committee.

My little blog has continued to grow and 2013 was the year I changed the name from "Galactosemia in Portland" to "The Not So Cheesy Kitchen".  Truth be said, a) how many people know what Galactosemia is, and b) I have been concentrating a lot on the treatment i.e. the foods we eat :) a.k.a. Food Blog.  Now some thanks are in order to Ron, as well as our dear friends Larissa and Martin who helped come up with "The Not So Cheesy Kitchen" name of the blog.  Talking about my blog thank you Heather {a.k.a. Girlichef} for all the help and friendship. Oh, and yes I should mention that the girls are so used of me taking pictures of their dishes, them eating, them helping in the kitchen... I overheard Alena explain to her friend "my Mom takes pictures of all the foods we eat"...So thank you, girlies!

2013 also marked that year that I finally got back into running.  Yes, that is right after a almost 15 year break and with many failed attempts to get back into running I have finally made it.  I started back in May of this year and have not fallen off the "track".  Thank you to my dear friend Denise for coming up with a plan, is encouraging me and of course to Ron who makes sure that I make it out the door :).  Yes, I am slow but it clears my mind, lifts my mood...

This year was also the year we took a family vacation in Alto Adige {Northern Italy} after spending time in my hometown of Tuttlingen, Germany.  Danke, Mama :)  Talking about visits and vacations, we tried out snow shoeing {the girls were not fans}, discovered cross country skiing and took a couple of trips out to Sunriver, Oregon.  Then of course there was the surprise visit by my sister Kati...and yes,  it is hard living this far away from family.

Are any of you still here? Or did I loose you all by this long post?  Well, let me say this there are so many more people I should thank.  So I say Thank you to all of you...to every single one of you reading this.  I appreciate all of you.

Wishing all of you a Happy, Healthy, and Successful 2014.  May all your wishes for the New Year come true.  Cheers!!!

Summer Squash Fritters {#recipe} & 50 year #Newbornscreening Anniversary

Now how on earth does that go together you may ask.  Fritters and 50 year Anniversary of Newbornscreening.  Well, let me tell you.

It is - as mentioned in the title :) - the 50 year Anniversary of Newbornscreening; Newbornscreening is the test that saved the lives of both our children.  It is often referred to as the "PKU test", or the "Heel Prick" and is administered when your newborn baby is between 24 to 48 hours old. There is a wealth of information answering questions on the Save Babies Through Screening website.  The test was developed 50 years ago by Dr. Robert Guthrie, and it is through this little heel prick that Alena, as well as Mia Rose was first diagnosed with Classic Galactosemia.  It saved their lives and we are forever grateful; in case you have not seen this is their story.  The Oregonian wrote a piece to celebrate this important anniversary of Newbornscreening with a fantastic article by Katy Muldoon "50 Years Of Saving Lives".  In the article Katy talks about the history of Newbornscreening and its effect in Oregon.  We shared our story; for the article Ben Brink from the Oregonian visited us at home to include pictures plus a video for Oregonlive.   As you may know, the treatment for Classic Galactosemia is solely through diet and the big question for many is what do people with this disorder eat?

In any case, it is the basis for the management of our children's metabolic disorder and also how "The Not So Cheesy Kitchen" became not so cheesy ;).  You all know that our kids - especially Mia Rose - love to help me cook so what dish to make for the day the photographer visits?  Yes, you are absolutely correct "Summer Squash Fritters"; when you watch the video and the online pictures you can not only see me shooting this picture

but also a much better picture by Ben plus a fantastic picture of Alena eating the Summer Squash Fritter.  Let me just tell you that those little fritters are perfect; they are delicious for breakfast, lunch, or dinner.  Just delicious little beauties - one thing that is super important so it so make sure that you give them time to render their water...

Summer Squash Fritters adapted from Win's Recipe 

• app. 1-3/4 lbs Summer Squash grated with peel on
• 1/2 large onion grated
• 1 teaspoon of salt
• 1 egg
• 1/4 C flour
• Salt & Pepper
• Canola Oil

1. Place grated vegetables in a bowl and toss with 1 teaspoon of salt. Let sit for at least 10 minutes - the water will draw out of the vegetables at this time.  You will be amazed :)
2. Preheat oven to 250 degrees - and prepare baking sheets with parchment paper
3. Using your hands take out the squash/onion mixture and squeeze to get more water out of the vegetables.  Place in a separate bowl and discard the water.
4. Add flour, salt & pepper to the vegetables
5. Lightly beat one egg and pour it over the vegetables.  Mix everything together {I used my hands}
6. In a pan heat up the oil for frying the fritters.  Place the vegetables in small heaps into the pan.  Be sure not to overcrowd the pan
7. When golden turn and fry up the other side; when done place the fritters on the prepared baking sheet. Keep them warm in the oven, until all of the fritters are done and you are ready to serve them.
8. Enjoy!

P.S.:  You can also make these fritters with zucchini :)

This is why #newbornscreening matters to me...Sunriver long weekend pictures

In a conversation last week concerning the 50 year anniversary of Newborn Screening I was asked why the test matters to me.  That question made me all teary eyed, and brought me back to realize that nothing  - yes, n o t h i n g - would be as it is today without Newborn Screening.  No, I am not exaggerating as without the test Classic Galactosemia in Alena most likely would have been detected too late.  This is not a joking matter, this is not a mother taking something too serious, this is a test that saved my children's lives.  Yes, both my children were saved by the Newborn Screen.  Alena's test result came back just in time, but she had E. Coli Mengengitis and the antibiotics were started just in the nick of time.  Mia Rose was never exposed to breast milk and luckily she never got ill.  Without early detection through newborn screening the effect of this disorder can have devastating results on the baby.  We were beyond lucky, and we live such an ordinary life today just because of this little heel prick. Here is our story...

Yes, our life is ordinary.  Two healthy girls, two cats, a little house, and the occasional family get away.  
This last weekend - Memorial Day Weekend - we spent blissfully in Sunriver {Central Oregon}. One of our favorite places; it is pure relaxation and rejuvenation for the entire family.  We rent a vacation home and usually go out once for dinner or lunch.  Playground, swimming, hiking {okay mini hikes :)}
hot tubbing, card & board games, reading...you get the picture, right?!  Well, here are some pictures and as you look at our girls, please remember that out life would not be like this without timely detection of Classic Galactosemia and Newborn Screening.  The test saved their lives....

A game of tetherball {Ron & Alena}

Swimming outside on a drizzly day

Visit to Lavalands

Hike at Smith Rock State Park {Monkey Face}

Alena's #story in #song {#Newbornscreening} #video

You may have read Alena's story before on my blog, or at another site - just in case you are not familiar {and are interested} here is our story again.  For the full story please click on this link, in a nutshell  at 6 days of life Alena's Newbornscreening test came back positive for Classic Galactosemia.  We were already in the hospital, the diagnosis came in, she was taken for a spinal tap, and by the next morning E.Coli had grown in her spinal fluid.  She seized, was transferred to the PICU {Pediatric ICU} where she was diagnosed with E. Coli Mengengitis which can {does not have to be} a effect of Classic Galactosemia, and the baby's exposure to Galactose {at least that is how I understand it - I am a Mom a layperson so double check with your physician}.  As far as I understand it is not understood why some babies with Classic Galactosemia develop E. Coli Mengengitis.  Let me just say that was THE worst moment of our lives.  We are so thankful for the Newbornscreen because without it Alena would most likely not have survived.

Now, what does this have to do with a song?  Well, Ron {my dear husband} makes New Years Resolutions {unlike me} and his 2012 goal was to write one, and publish one song a month.  Congratulations, Ron because you did it yay :) - I am not off topic - really just bear with me....for the December song of 2012 Ron put his recollection and memory of this frightful event into words.  You know, unlike me, he really does not like to talk about that time.  I am so glad he got it out - it is a song for me, for us, for our kids, and also to tell the world about the importance of Newbornscreening.  In his song, he put our fears into words and beautiful music. It brings me right back to that time and yes, it makes me cry....and yes, we are the lucky parents because our child survived.  Both of our children are alive because of Newbornscreening...Please share our story with your friends, those that are expecting babies, or those who just like to listen to music.

Alena's story by my dear husband...

Wonder what Mia Rose is #thankful for?

Here it is all documented on video - and would you please let her know what you are thankful for?  Just leave a comment :)

Oh, and yes that is Alena in the background....

#Thankful for #Newbornscreening {#video} by Alena

Here is Alena telling us what she is thankful for this 2012 Thanksgiving Holiday.  We took the video at our hike at Tryon Creek :)

Alena would really love to hear from you :)  Thank you!

#Serendipity Part Two - #Thankful

I start - then I stop; ideas come and go; what should I write? It is yet another November - another year went by and I have so much to be thankful for.  I should write part two of the serendipity series {well, okay one piece written and posted}, or write about being thankful?! In a way it both intertwines, but both are - at least in my mind - different.  Am I making any sense?  Yup, I am still deciding as to where this post will take me...just mind up my mind, it is time for part two.  And yes, I just gave this post a title - well of course you will see the title first but in all truth it was titled exactly at this point :)

Okay so let me back up and link in Serendipity Part One - just a brief summary Ron and I serendipitously met through friends in Chicago. We both had moved to town the same weekend {we did not each other}.  He from Wisconsin, and me from Germany. After a few years of dating, and cohabitation we got married.  We lived in Oak Park {suburb of Chicago}, traveled quite a bit and eventually moved to Portland, Oregon.  While I was in graduate school, Ron worked - you know, the grind.  Nothing serendipitous just yet...then we had Alena; she was born in late November right before Thanksgiving.

My pregnancy had followed the expected plan - delivery before exams, with time to take exams after she was born {note to self - what was I thinking?!}. She was on schedule. Everything set - we arrived at the hospital; and according to plan she was born.  So, you ask where is here the serendipity?!  Wait, wait...we brought her to the nursery on the maternity floor and on the way back, I saw a brochure from the state of Oregon similar to the one Idaho publishes {note: the Oregon brochure does not seem to be available online}.  I read it and got worried.  Ron on the other hand calmed me down pointing out how rare positive findings are.  Yup, rare - can I just point out for a second how rare it was that Ron and I even met.  Yes, and we moved to Chicago at the same time without even knowing each other...Long story short, we were on our way to be dismissed from the hospital when I remembered that brochure.  Accidentally  - yes it happens - Alena's Newbornscreen had not been performed.  She already was strapped into her car seat.  And yes,  I call it serendipity that we saw and read the brochure.  Just imagine had she not been tested!  Yes, more likely than not she would not be with us today...so this is what I am thankful for.

So why is the title serendipity and not just plain thankful?  Well, you may or may not know this but whenever there is a genetic disorder involved both parents carry the same gene.  Yes, Ron and I carry the same recessive gene.  Me the German girl, and he the Wisconsin boy.  - We met in a happy surprise {serendipity}, I read the brochure in accidental discovery {serendipity - so thankful for it}, our child is picked up by the newbornscreen {fate = serendipity}...It was meant to be :)

Now, stay tuned for Serendipity Part Three - yes, yes, yes there is a third part...Serendipity is the piece that seems to be threading through our life....And yes, we are all good.  Our kids are perfect - we are happy....Okay, I will get now off my soapbox. Thank you for reading!

Here we are...summer 2012

P.S.: Here is the link to our family story and to the Save Babies Through Screening Foundation.  Please
        share information about newborn screening with all of your expecting friends, family. It saves
        lives

#Newbornscreening is near and dear to my heart

Yes,  I write about this topic sometimes.  Are you tired of it?  If you want to stop reading, go ahead but  please tell all your friends and family who are looking to welcome a baby into their lives about this test.  Some people call it the PKU test {for the metabolic disorder PKU}, others call it the "heel prick" but it's official name is Newbornscreening.  This topic is not about whether you agree with me or not. It is not about whether you like me or not. This is about saving the lives of babies.  Plain and simple!

Newbornscreening tests infants born in all 50 States for a wide array of disorders that if not caught in timely manner can end up debilitating, or deadly.  Not every State tests for the same disorders, so it is very important to know before the baby arrives what exactly is tested and if maybe an additional screen should be considered.  The Screen Babies Foundation - an all volunteer organization of Mom's who have been touched by newbornscreening - has valuable information.  Find answers to your questions, and find out what disorders your state tests...

So just in case you do not know,  I am so passionate about Newbornscreening because both of our children are healthy today only because of the Newbornscreen.  I did not know about the test before Alena our oldest daughter was born.  But then again I also had never heard about Classic Galactosemia, the metabolic disorder both of our children have.  Click on this link to read our story.  We have two happy stories, there are more happy stories such as Nikki's, Damian's, Alex's  and many more. But unfortunately there is a long number of stories that did not have to end so sad.

Read Cora's story - Pulse Ox Screening could have saved her
Alexis could have been saved if newbornscreening had detected her MCADD
Ben could have been saved if his MCADD would have been detected by Newbornscreening

Read more family stories here

September #NewbornScreening Awareness Month and its back to school :)

Yup, and you may wonder what do the two have in common? They have everything in common and are both closely related to one another.  How so?  If you have read my blog before, or know me then I am sure you know the answer, right?!  But just in case you do not know the answer I will let you know...

Both of my - our - children have a rare metabolic disorder called Classic Galactosemia.  Classic Galactosemia is one of the disorders detected at the newborn screening test {some people refer to it as the "heel prick", or "PKU Test"}.  It is one of those disorders {like all of the ones on the newbornscreening test} that can have very adverse results if not detected. We are one of the lucky families.  Our oldest daughter was diagnosed "just in time".  Yes, she still became very, very ill but Alena survived, and  is a thriving, healthy girl.  Without newborn screening, Alena most likely would not have survived.  It is simple as that - and you know, the same holds true for our second daughter.  Yes, she never got ill but only because she was a) never exposed to breast, or any other kind of milk containing galactose, and b) because of her newborn screening result. So can you imagine how dramatically different our - Ron's and mine - word would be without newborn screening?  Please click on the link, if you would like to read our story

So when I look at our children, I am forever grateful for the test that saved their lives.  I am constantly reminded of this.  Today, as the girls and I spent our last lazy summer day together it was a constant reminder.  We are lucky beyond belief that we get to see our children grow, and be excited with both of them to be going back to school tomorrow

Please tell all your family and friends who are expecting babies about the test that saved my girls.  You can learn about it it from the Save Babies Through Screening Foundation, and by watching this fantastic video.

Take a look at our silly girls, and cat :)

Read a blog post about us...

on what it is like to live with Classic Galactosemia.  - I was interviewed for this post a while back and am so excited about this article.  We would not have our healthy girls would it not be for newborn screening.  Please tell all your pregnant friends and family about the test and how it saves the lives of children. - Click on the link to read our story, and find out more about the test
http://www.babysfirsttest.org/newborn-screening/blog/classic-galactosemia-a-day-in-the-life

You can also find out more about newborn screening on the Save Babies Foundation Website which is www.savebabies.org

Know about Newbornscreening before your baby arrives

This could be one of the most important things to learn before your precious baby arrives.  Don't be like me;  I - lucky beyond belief - learned about newborn screening last minute in the hospital after Alena was born.  The question always rings in my head what if I had not read the brochure? Our story -> http://www.savebabies.org/family-stories_alena_and_mia_rose.html

Yes, newborn screening is protocol in all hospital's but let's face it we are dealing with humans and not robots.  Errors happen, tests get forgotten, so always ask to make sure.  For us, had I not asked more like than not Alena would not have survived. That is the plain truth. But you that it is also true, that I would have never asked had I not known about newborn screening.  As remote as it sounded at that day, and yes I certainly did not know that it would save our daughter's life.  Just that little piece of knowledge saved Alena's life.

And, there are other reasons why it is so important to know about newborn screening before your precious baby arrives.  Did you know that the disorders tested by each state in it's newborn screening test varies?  Some states for 39 different disorders, while others test for 50+ disorders.  Find out now which disorders your state tests http://www.savebabies.org/screening.html It is so important to find out before your baby is here, because it gives you time to determine whether you may want to get additional screening for your newborn.  We did this with Mia Rose - our second daughter - and her test result showing a positive GALT - Classic Galactosemia - was reported by the private lab within a weeks time.  Which was also faster than the state results were reported.  Here is the link to tell you more about additional screening -> http://www.savebabies.org/pregnant_links.html

So please, spread the word tell your pregnant friends, tell your friends who are about to adopt a newborn baby. It is easy to learn more about the newborn screen check out http://www.savebabies.org, and watch this amazing video http://vimeo.com/34898727

The importance of Newborn Screening

Lately I have been thinking a lot about how lucky we are to have two healthy girls.  The odds would have been against us in a country without expanded newborn screening, in a state not testing for Classic Galactosemia, or simply refusing the test.  We could have refused the test out of ignorance just because the perceived notion of pain to the infant.  That obviously was never our intent, especially since the first I read about the test was in the hospital after delivering Alena, and because the hospital staff had erroneously not performed the test had I not reminded them.  But here we are - lucky and yet there are too many people still unaware about this amazing test.  Yes, truth is that most likely Alena would not have survived.  Saving her was only Newborn Screen test, not me, not us - there was nothing we could have done.  We knew something was not right - but what?  What saved her was the physician tracking us down, and the physician immediately putting her on antibiotics as soon as the diagnosis came in.  That is what saved her!

Luckily, we never had to experience anything like that with Mia Rose.  The reason for that is also simple - the Newborn Screen test.  For our second child we had also arranged to purchase an additional, supplemental test as Oregon does not screen for all disorders on the panel.  Unlike Alena, she had not had anything but Soy formula so changes for her getting ill were much more remote.

What would have happened if, the test had not been performed on either of my children? -  One thing many people do not know is that the Newborn Screen tests for disorders which are treatable if detected early.  Even so the children may appear health at birth babies with these disorders may decline in health, have irreversible damage, or die. Here is one family story which posted at the Web-site of the Save Babies Through Screening Foundation http://www.savebabies.org/family-stories_nora.html The Newborn Screen prevents just that for these treatable disorders. Please pass this information along.  It could save a babies life! And yes, many people have never heard of any of these disorders, or have any family history.

Here is a fantastic video by the Save Babies Through Screening Foundation it explains what happens and what to expect from the test http://vimeo.com/34898727.  Please watch it and also visit this amazing, resourceful web-site www.savebabies.org

Our happy and healthy girls - health and alive because of Newborn Screening

Happily Ever After – How Newborn Screening Saved My Girls

This is our story. I wrote this post for the Save Babies Foundation www.savebabies.org - a fantastic organization raising awareness about newborn screening, educating the public about the test, and advocating. Please share...

Happily Ever After – How Newborn Screening Saved My Girls

So many things to be thankful for...

...I know Thanksgiving is over and #Thankful is probably no longer trending on Twitter.  This morning for me is however the perfect time to reflect on what I am thankful for.

There are endless persons and things to be thankful for.  You know, the usual things - all of my family, love, wellness, our health, our home, having plenty of food on the table, being able to travel, the things everyone is thankful for.  So I will not reflect on the know about....So here it goes.

I am thankful - beyond words - for Newborn Screening and all the people that put so much hard work in to have the tests implemented in each State.  It is - as I am sure all of you know - that without Newborn Screening we most likely would not have our wonderful family.  It is only because of the test, because of the lab technicians that worked over the Thanksgiving weekend eight years ago, the physician that tracked us down, the pediatrician who had a gut feeling and not afraid to go by it, and the infectious disease physician that we celebrated Alena's eight Bday this week. Just think about, what could have happened.  Think about what could happen if the test would not be mandatory/opt in for every baby.  The results could be devastating.  I would not have known about the Newborn Screen. - I am thankful for the individuals at www.screenbabies.org who work tirelessly to educate about Newborn Screening. Through Save Babies through Screening organization we learned about additional private newborn screens.  By the way - the positive diagnosis for Classic Galactosemia for Mia Rose was received from the private lab.  I am however heartbroken, when I remember that the organization was started because a baby died of complications from Classic Galactosemia before the Newborn Screen results were processed.  Just heartbreaking....

There is so much more to be thankful for...