List of the most popular hashtags for theme #PHENYLKETONURIA

Meie maja nurgas on mänguväljak ja sealses liivakastis on palju mänguasju, mida kõik võivad kasutada! . . . #lifestyleblogger #mamablogger #mother #momlife #mom #momanddaughter #girls #10monthsold #daughter #eestiblogijad #blogija #fenüülketonuuria #phenylketonuria #phenomenalwoman #playground

The moment your hearing aid goes in #lowpheotheo #sensorineuralhearingloss #snhl #oticon #oticonkids #hearingloss #hearingaid #ellendegeneres #ellentube @ellentube #pku #pkuproud #phenylketonuria #geneticdisorder #raredise #inbornerrorofmetabolism #rareisbeautiful

Took the kids to the ballet today. Saw the Nutcracker. Amazing. A whole day out in London. I always start stressing about what to take and I always over pack food. Then I stop and remember there are options when on the move and out and about. Each year seems to get slightly easier with this. However, I very much doubt I’ll ever stop the stressing or over packing until Ava herself takes full control of her diet. I’ll most likely still stress and over pack for her then too ❤️ #PKU #phenylketonuria #london #ballet #dayout #nutcracker #christmas #food #lowptotein #packedlunch

Apparently it’s #worldhearingday! So many days to celebrate thanks to this little man. One of our first hurdles was Theo failing his newborn hearing screen, which led to 2 follow ups to confirm sensorineural hearing loss. Honestly, this is the least of my concerns for him and we can’t wait for our fancy blue hearing aid to come in! #sensorineuralhearingloss #worldhearingday2019 #pku #phenylketonuria #raredisease #oticon #lowpheotheo

Aaaand here we are, December 3! Today is PKU Awareness day and let me just say I love a very very VERY special boy who has PKU. This photo explains perfectly what it is and how it is managed. One of the biggest challenges with Jeremiah, right now, is making new foods that he will eat. I try to switch up his meals as much as I can so that he doesn’t get tired of anything but it’s so hard because he does have his preferences. One of his favorites are potatoes. Whether it be mashed, baked, diced, or fries. But after a while he’s over them. I make his medical food and sometimes he wants nothing to do with it. Which is tough because I don’t like wasting it considering how expensive it is. Insurance is a huge help and we are so blessed that Jeremiah is covered when it comes to his food and formula. He’s currently at 260mg of phenylalanine (Phe), a day. We do finger pricks every 2-3 weeks and his phe levels are usually consistent between 4-5. Although, if he gets sick or has a fever it could raise or lower his levels. Some days his mood is all over the place and I wonder whether it’s because he’s in that “terrible two’s” stage or because his levels may be affecting him in a way that I cannot see physically. I say that because I have talked to adults and young kids with PKU that say their levels affect their moods. But overall Jeremiah does SO WELL with his diet and I can only say that I am so lucky to be his mommy because he’s an amazing kid. He loves his fruits and veggies, doesn’t try to eat what he’s not allowed to have (meat, dairy, eggs, nuts, beans, etc. cuz the list goes on), he is fearless, loving, adventurous, curious, and of course, mean but sweet! Such a boy. I hope he grows up knowing that his diet is the only thing different than other kids and he can achieve any goal he has just like anyone else. I will make sure that I do my part to show him that! My special boy I LOVE YOU SO MUCH! I’m proud of my little pku’er #pkuawarenessday #lowproteindiet #phenylketonuria #pku #teamjeremiah #pkustrong #hesawarehesrare #Dec3 #pkumom #pkuproud

Today, I took the first step into tackling years upon years of mental clarity (or lack thereof), anxiety, forgetfulness, moodiness and headaches. •This is my first of many injections of the newly FDA approved drug, Palynziq. Palynziq is an enzyme substitution therapy for adults living with phenylketonuria. It will provide my body with the PAH enzyme, which is essential to converting the amino acid phenylalanine into tyrosine. The symptoms listed above are the results of high blood-phenylalanine levels. Phenylalanine naturally occurs in nearly all foods containing protein. (Literally everything ) •Naturally, due to this, my diet has been severely lacking for almost 27 years. In a perfect world of PKU treatment, a low protein diet would be meticulously followed. No animal products of any kind, beans/legumes, or wheat would be consumed. This basically has limited me to a strict fruit and vegetable only diet. •Assuming the success of this treatment, I would be able to consume ALL of the above and hopefully ditch my daily metabolic formula. •This is HUGE! I can remember sobbing with my mom on numerous occasions and dreaming of a day like this. A day where there was hope and light for a normal life and feeling 110% all of the time. •This will be a long journey and potentially not an easy one, but I am so thankful for the doctors, scientists and researchers who have worked tirelessly to make breakthroughs in the world of rare diseases. Let me know what restaurants/foods I have to try when/if this therapy works! • • • #palynziq #pku #phenylketonuria #phe #biomarin #breakthrough #raredisease #pkustrong #emory #emoryclinic #genetics #humangenetics

I want to start a mini series to share a few aspects about what PKU is. My hope is to provide insight for new parents, family and friends. PKU stands for phenylketonuria. It is a genetic disorder in which the individual is lacking an enzyme to metabolize one amino acid in protein. If treatment does not start soon after birth, and continue throughout the lifetime,mental delay, mood disorders and seizures will develop. The gold standard for treatment is following a low protein diet. The daily protein tolerance depends on gene activity and varies for each individual. If this diet is followed very carefully the individual is able to live a full and “normal” life. Please let me know what questions you have about PKU so I can share with others. • • • • • • • • • #pkufood #pku #pkuculinary #organic #nongmo #glutenfree #lowprotein #lowpro #eatlocal #shoplocal #phenylalanine #phenylketonuria #precondiet #precon #maternalpku #lowphe #metabolicdisorder #geneticdisorder #lowprocooking #bostonblogger #foodblog #nhblogger #vegan #vegetarian #organicpku

Today is #RareDiseaseDay and I’m celebrating! Yes, I have #phenylketonuria but this year I’ve also accomplished the two largest #PKU goals I’ve ever set. - I’m 30 weeks pregnant (with my diet in absolute control to keep our baby girl healthy and growing!) ...And on January 15, I launched my blog #pkuforlife to share my story. - Both of these feats have taken A LOT of work; I am truly proud. It has been the most challenging year of my life, with a lot of sacrifice and emotion along the way...but I’m thrilled to have these major milestones to celebrate! - Being a part of such a rare community has had a tremendous impact on who I am today. —even through the years I spent off diet. The support I’ve received simply in sharing my story on social media (and now my blog) has blown me away and keeps me strong through it all. PKU is not easy; every day is a challenge, and the littlest things (eating, simply existing) take work! But being connected to (and learning from) so many other PKUers has made all the difference. - A #raredisease is defined as any disease, disorder, illness, or condition that affects fewer than 200,000 people in the US. PKU is detected by newborn screening and affects about 1 in every 15,000 people. Currently, it’s estimated that there are only 16,500 people in the US living with it. ...But PKU is just 1 in about 7,000 rare diseases. And while each rare community makes up a very small part of our population, together, 1 in 10 Americans live with a rare disease of some kind. (1 in 10!) 90% of these rare conditions go without an approved treatment or much support to invest in the research that could lead to those breakthroughs. - Rare Disease Day gives us a chance to come together and be a part of a larger community. The more we share our stories, connect, and raise awareness...the closer we are to making a difference. I am SO happy to see so much of this popping up on my feed today and am forever grateful for the support I’ve found. I’m excited for what more 2019 has in store and to do my part in advocating progress! #showyourrare #rarediseaseday2019 #strongertogether #PKUproud #showyourstripes #nevergiveup #pkustrong

I’m doing a happy dance (or just very expressively talking with my hands ‍♀️) because Thriving with PKU, my YouTube channel, is BACK on February 12th!!! So excited to be back sharing low protein recipes for the PKU (and allied disorders!) community and oh so very thankful to all the people who continue to make this possible. See you Tuesdays at 3pm PST! (you can find the link to the channel in my bio!) • • • • • • #ThrivingWithPKU #pku #phenylketonuria #phenylketonurics #pkufood #pkurecipe #pkucooking #proatlowpro #chefpku #lowprotein #coconutmilk #lowproteinfood #lowproteindiet #lowproteinrecipe #lowproteinlifestyle #raredisease #pkuawarenessday #pkuawareness #advocatehealth #adultswithPKU #PKUsupport #pkuadult