Your help for a research study is requested...

as you know both of our children have Classic Galactosemia, which is a rare metabolic disorder.  One of the leading Galactosemia researchers in the United States is Professor Judith Fridovich-Keil, Ph.D. at Emory Unversity in Georgia.  She and her team are currently studying gastrointestinal health in Galactosemia and are collecting data through an online survey {see below}. Additional respondents - both with and without Galactosemia - are need for this online survey.  It a quick survey, and it would be greatly appreciated if you could help, as well as pass it along.  Thank you so much!

Here is the link to click to find the online consent form and survey:

http://survey.emory.edu/fs.aspx?surveyid=2b5135cbaa84851a6b5ca0f354bb22e

Thank you so much for helping!

Amazing levels, amazing visit to the Metabolic Clinic and cheeses

We have the results from the recent draw. Both girls have perfect levels!!! Did I mention, that dinner the night before the blood draw included lots of Parmeseano Regiano tomatoes and garbanzo beans?  Yay....I am so, so very excited that the levels came back perfect.

We had our metabolic appointment on Tuesday and I had to pick-up the girls early. Neither was excited about the appointment out of fear that there would be a pain involved... To mix things up a little bit and make it fun, we did not drive up to OHSU today, but took the aerial tram.  Both were excited to ride the tram...oh, and if you do not live in Portland and wonder what I am talking about here is the link to the aerial tram http://www.portlandtram.org/.  The tram connects the upper and lower part of OHSU.  It is quite amazing, and on a clear day you can see Mt. Hood :)

Our visits was great as usual. It did however stand out, from previous visits because this time we got the green light to expand on cheeses for the girls. Our new dietitian was very prepared and brought along the abstract of a British research study concluding which cheeses the British deem as safe.  This fall  adding Gruyezer, Emmenthaler, and Grana Padano Parmesan to the Parmesiano Regiano.Yay!!! FYI - Jarlsberg is also on the list, but I however am not a great fan.... Kaesspaetzle (= home made egg noodles baked with Emmenthaler & Gruyezer topped with browned onions) will meet new friends :)

Jokes aside - I am so thrilled to finally get the official green light on these cheeses from our Metabolic Clinic.  Europeans have long advocated for Galactosemics to eat aged cheeses due to the calcium.  And I do admit, that both kids have eaten Emmenthaler, as well as Gruyezer before just in small amounts.  I limited the amounts as I was not certain how much would beOK....

What about you?  Do you allow, or eat aged cheeses?  Will you allow it?  Do you like it? Does it worry you?  I would love to hear from you!!!

Alena on the Trapeze - the Performance

Finally the big performance was here...this little clip shows Alena on the trapeze. It's a little dark but thankfully she is wearing one of her favorite colors :).

This was the beginning of the show....Alena is in front wearing the lavender top and dark pants.

The end of the show :) - I am so proud of my little girl....

New Research Study in California

Please see below information I have received about a research study being conducted in California. The researchers are looking for individuals between the ages of 5 - 89 as well as parents whose children are between the ages of 5 - 17. We have chosen to participate in this study. Please contact the researches directly with any questions at galactosemiaresearch@gmail.com.

"...Researchers from the Palo Alto University are conducting a study to learn about the impact of having Classical Galactosemia. We propose to extend current work, with the goal of gathering more comprehensive information from as many affected people as possible regarding health-related quality of life, cognitive and executive functioning, and behavior of people with Galactosemia.

We are requesting participation from persons aged 5-89, as well as participation from parents of 5-17 year olds. Wendy Packman, JD, PhD, Sabrina Vierling, B.S., and Susan Gehrig, B.A. at Palo Alto University, are conducting this study.

If you choose to participate, you will be asked to meet with an examiner for assessments and to complete questionnaires about how you or your child are living in the presence of a chronic illness. Participation in this study will take approximately one and a half hours for child, adolescent and adult patients, and only 45 minutes for parents of child/adolescent patients. If you are interested in participating in this study, please email Galactosemiaresearch@gmail.com. We will be happy to answer any questions you may have..."

We did it :)

Yeah - the dreaded blood draw is over with...let's just keep our fingers crossed that the levels of both girls were good. We went Wednesday up to OHSU and Mia Rose (the little one) was sent first by her big sister. She is the hardest one because she just cries (better said SCREAMS on top of her lungs) the entire time. A woman came in to see if she could help out....Mia Rose has already completely forgotten about it. Alena keeps talking about the draw and how she does not want to go back. She is so good so...she sat on my lap for the draw and was a real trooper. She cried a tiny bit...but hey, if I could I would cry during a blood draw too.

This time they took a little more because both girls are also enrolled in a research study. If you are interested in the study you can check it out at http://genetics.web.emory.edu/studies/galactosemia/index.php.