About PKU Parlor

Before radio hit the airwaves in the early 1900s, before satellite TV brought hundreds of channels into the home, and long before devices like smart phones and video game consoles connected via the Internet, families often gathered in the family parlor. Originating from the French word that means “to speak,” the home parlor was used for entertaining guests and oftentimes displayed mementos, photographs and other family possessions.

Today’s “social space” has moved out of our homes and into the somewhat less-than-cozy corners of the World Wide Web. However, thanks to audience fragmentation, I and the other 7 billion people that make up the planet are able to break through geographic boundaries and communicate with other individuals who relate to or have experienced similar challenges.

As a Phenylketonuria (PKU) patient diagnosed in the early 1980s, I created the PKU Parlor blog as way to both document my experience in dealing with this genetic disorder and as a way to connect with other individuals who are experiencing the same challenges as I am.

Whether you are a PKU patient yourself, or you know someone with PKU, I hope you enjoy my ramblings and please feel free to comment whenever the mood strikes you!

–NM

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25 responses to “About PKU Parlor

  1. Dave

    Hi Nicole, from what I understand, PKU is a disorder of the biochemical pathway relating to phenylalanlne metabolism (meaning you need to limit intake of that amino acid). You probably know a lot more about it than I do! However, people in the biosciences know it VERY well, and even use it as a model for understanding metabolic pathway disorders (which means that they understand it pretty well). We all have thousands of enzymes in our bodies. And each one is designed to handle a very specific task. When they are all put together, the make a “breakdown” route, or cascade/pathway, that starts with a certain molecule, and end with with certain product. When one of the enzymes in the pathway is missing, however, everything stops at that point, and there’s no way to move on the the next step (sounds like a lot of my experiments!) So everything gets stuck at an intermediate place. Phenylalanine is one of three conjugated amino acids (actually four, including histidine) with electrons in a ring structure. In chemistry, conjugation leads to lower energy structures, and that usually has something to do with light. Sot these three (four) amino acids interact with electromagnetic radiation in the near UV and visible light range (these are the best amino acids to work with, experimentally, because they are easy to detect, and so are easy to purify, and I wish AI only had to deal with them!). In people, it’s not such a great thing, however, because buildup of any metabolic intermediate will cause toxicity. So take it easy on the Diet Coke! (or anything else with a similar artificial sweetener). Fortunately, it can easily be addressed by diet choices.

  2. Andee

    RAWK!! I am always looking for other people with PKU closer to my age (I am 30) that understand. I am currently on peg-pal trial at childerns hospital in wi.

  3. Rae K.

    Hi, this parlor looks soo cool. My names Rae, I’m 51 and have CPKU. I in south Texas and most followed by Texas Children’s. I’m just finishing off a bottle of Camino pro restore, it’s really great! I could live with this! It’s even better than bettermilk…lol!

  4. Tamara Beltz

    Just wanted to say hi . My name is Tamara,I live in Surrey Bc and am 40 with Classic PKU . I recently have returned to diet,and want to say,you have some great ideas here. Thanks for sharing.

    • Hi Tamara! Thanks for saying hello! How long were you off diet before returning?

      –NM

      • Molly

        Hi Nicole. I’m enjoying reading about your pku journey. My daughter is 6 weeks old & I love reading pku blogs! Just curious, when you enter off diet were you meat free or were you eating a completely regular diet?

      • Hi Molly, Thanks so much for stopping by and congrats on your new baby girl!! My sister just had a baby in May so we also have a new baby in the family! In response to your question, I went completely off-diet and did eat meat. It’s not something that the PKU medical community condones; however, thanks to some medical breakthroughs like Kuvan and the PegPal treatment (the last of which is still in clinical trials), many PKU patients are able to eat more liberalized diets. I’ve even heard of some who are currently participating in the PegPal trial being able to eat whatever they’d like, including meats, diary products and other high-protein items.

        –NM

  5. Tamara Beltz

    I was taken off diet at 14,tried to return in my 20s but I don’t think I was mature enough yet to understand. I never learned. To work the diet as my mom was still doing it when I was taken off. I am now 40 and trying again. Am making it a slow process this time so its not too overwhelming. Got my level down to 11 from 22. To me,that is success,but am still slowly eliminating things from my diet. I feel good about it.

    • That is absolutely a success! My phe level was in the 20s when I was off-diet too. So believe me, I definitely know how significant it is to bring your level down to 11. Take it slow and steady – only you know best about how much you can take-on all at once. Proud of you, Tamara!

      –NM

  6. Tamara Beltz

    Thank you,I just got my lowest level back since I started and it was 11.2. I feel so much better already,am looking forward to under ten. Thanks for the support. What is yours at? Do you feel better now? Ttys. ❤ kindred spirits.

    • My last level was a 3.6, which sounds awesome, but the week before it was a 6.6, so I’m still seeing a bit of fluctuation. I have to steady that out before trying to conceive. I don’t feel drastically different in terms of mood, but the more I stick with it, the more confident I become about starting a family.

  7. Tamara Beltz

    That’s great. You are doing well,getting levels down. I myself struggled too much to consider having a child although I would have loved to. I find that any choice made there will be difficulties but I wish you all the best. You should be proud.

  8. Kara

    Hey Nicole!
    My 6 month old Daughter has PKU and we are still learning about how to best care for her and guide her along the way. She is really an amazing little girl and we are beyond elated to have the honor of raising her! My question for you is about Kuvan. I am curious what your thoughts are around its efficacy and whether you, or any of the other folks out there, would recommend it to others. Our girl is doing fine without it for now (levels all between 1.7 and 5.5), but we haven’t ventured into the world of solid foods yet!

    Thanks for bringing PKU community together via your blog!
    Kara

    • Hi Kara – Great to hear from you! Not everyone is a responder to the drug. I attempted a Kuvan responder trial a few years ago but the results were determined to be inconclusive. For those who did respond to Kuvan, I have heard it has done wonders for helping them to better manager their diet.

      It is also worth noting that there are some who have expressed concerns over Kuvan, namely Virginia Schuett through her newsletter called PKU News: http://www.pkunews.org/research/Spring2008_Editorial.pdf. I carefully read this article of hers many times before attempting the Kuvan responder trial. I ultimately decided against using the drug while attempting to get pregnant since very little research has been conducted on the effects Kuvan may have on a developing fetus.

      BioMarin also has another PKU drug in the works called PEG-PAL and it’s currently in Phase 2 clinical development. I’ve heard very promising things about its results. PEG-PAL is an injection treatment so it may be more difficult to administer than Kuvan, which is a pill form.

      I hope this information is helpful. Feel free to contact me via email (nicole.a.novak@gmail.com) if you have additional questions or just want to continue discussing PKU offline. Congrats on your new beautiful baby girl and please stop by PKU Parlor often!

      –NM

  9. Hi Nicole, My name is Patrick and I am the lucky daddy of a 4 month old named Benjamin with Classical PKU. He is simply amazing and my wife and I are blessed to have him. We have been fortunate enough to talk to other parents who also have children with PKU and what a relief and joy to know that their children are not only normal children – but they excel at their schoolwork, sports, and theatre. Its great to know that Kuvan and Peg Pal are out there and being developed. But I also know that having PKU doesn’t define anybody. It gives them strengh that other kids don’t have. I am a believer that this will help them succeed and become leaders in the challenging world that we live in. When I look at all the possible problems and diseases that a child could be born with today, PKU is really nothing more than a special diet. God bless everybody with PKU – you all give me so much strengh.

    • Hi Patrick – Congratulations on your beautiful baby boy! I’m sure that you and your wife have a lot to be thankful for this Thanksgiving! Thank you for stopping by PKU Parlor and for taking the time to comment. I love hearing from other families with PKU. Please stop by again soon!

      –NM

  10. Debbie

    Hi Nicole,
    My name is Debbie and I live in Arizona. I have PKU and I have 6 beautiful, healthy, intelligent children. None of them have PKU. I was strictly on diet counting all of my phe, weighing and measuring everything for the 10 or so years I was having my children. My youngest is almost 2 and my oldest is 10. If you have any questions about maternal PKU, I can do my best to answer them. Or if any of your readers have any questions, feel free to email me at prvrbs356@hotmail.com.

  11. Mickayla

    Im Mickayla we are from Arkansas. My youngest son, Paxton, is almost 2mo. old and has PKU. I have another son, Grayson, who will be 2 in january..im curious as to how our PKU journey is guna pan out trying to teach both boys about PKU and who can have what foods…

  12. Hello! My name is Sandra and my daughter Andrea, who is already 20, has PKU. We live in Buenos Aires, Argentina. I also have two sons but they don’t have this disease. She is on diet from her birthday up to this days, very strict at the very beggining and not so strict nowadays. I think we can share experiences and recipes.
    Regards, Sandra

    • Hi Sandra! I always like “meeting” others dealing with PKU so thank you for taking the time to say hi. Please feel free to pass along my blog and/or contact info to your daughter. I’m happy to share experiences with her any time!

      –NM

  13. Lisa

    Hi Nicole,
    I would love to hear from other PKU individuals and families about their favorite restaurants in their area. I’d also love to see a network/advice blog for PKU travelers. Where are you from and what is your favorite restaurant? If you ever visit Washington State, I highly recommend Teapot Vegetarian House.
    L.

  14. Nancy Lu

    Hi Nicole!
    Would you be able to update any news about PEG-PAL program please? I hope to locate a study site around PA area. Please help. Thank you so much.
    Nancy

    • Hi Nancy! Thank you for reaching out to me. I don’t think BioMarin is currently looking for any participants for the PegPal clinical trials. At least that’s what this site here says: https://clinicaltrials.gov/ct2/show/NCT01889862. Have you tried contacting your clinic? I don’t know which part of Pennsylvania you live in, but I used to attend the PKU clinic in Pittsburgh and they are really great to work with. All the best, Nicole

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