Thoughts from the first months
We welcomed our second born on 1st of December 2022.
During our three-day hospitalization, he needed phototherapy as he had jaundice. It was weird for me that he was refusing to feed. I struggled to wake him up after hours and hours of sleep. Then, right before our discharge from the hospital, they took the heel prick for other analyses. I did not know what the analysis was for back then; I found out afterwards.
Three weeks later, one evening, I received a phone call from the children’s hospital. It was near Christmas Eve, and the woman on the other end of the phone was still hesitant to tell me what was going wrong because she didn’t want to ruin our Christmas. Then she told me that we needed to come to the hospital the next day to retake a test because one of them from the maternity ward did not turn out well. I did not understand what was going on. Then she fugitively mentioned that the baby might have PKU. I was in shock. I knew from the faculty that this is a genetic disorder, but I had absolutely no practical experience on how it could be managed. I could not sleep; I could not cry. It was so much pain that I did not know how to react or what to do. I was so afraid that three weeks of waiting would affect him. From the bottom of my heart, I wished for my baby to be healthy.
The next day we redid the test. It came out positive for classical PKU; he had a 42 mg/dL Phe concentration in his blood. We received Phe-free infant formula from the children’s hospital. I was not allowed to breastfeed him for 3 days until his Phe levels were down. I did not comprehend back then what was happening; I was in shock. I could not sleep, and when I slept, I had nightmares. I was reading and reading about PKU and understood nothing. I could not digest this information. Why him? Why does he have this condition? Why? I was angry. Angry that I felt that we attract all misfortunes. I was not rational anymore.
I began my search after New Year’s Eve, feeling a deep need for support and understanding. I discovered an association in Romania, along with a few others worldwide. As I reached out and connected with them, I was met with warm conversations that offered me comfort and reassurance. They helped me believe that my baby would be okay, and I truly appreciated the gentle guidance they provided, allowing me to learn about this condition gradually. It brought me so much relief and hope.
Regarding the management of PKU in Romania, I find it necessary to refrain from further comments due to the numerous challenges we have encountered. Primarily, a dedicated team of specialists is absent, as is available in other countries. The lack of a dietician, who plays a pivotal role in managing this condition, is particularly concerning. Aiming to maintain a constructive perspective, I look forward to pursuing another BSc in the near future to become a Registered Dietician, with the intention of supporting my child and others facing similar challenges.
In the interim, I am committed to acquiring knowledge and managing my child’s condition effectively. I intend to share the insights I have gained with the community, hoping to contribute positively to managing this disease for others.
To the Parents and Caregivers Managing Rare Diseases:
Don’t give up; you are strong! I know it is tough. Remember, educating yourselves about the condition can empower you and enhance your ability to support your loved ones. With knowledge comes the confidence to navigate these challenges, giving hope not only to yourselves but to those you care for.
Associations and support groups:
- https://www.facebook.com/pkustrongablog
- https://www.facebook.com/groups/PKUworldwidesupport
- https://www.facebook.com/groups/PKUUKIreland/
- https://www.facebook.com/AsociatiaAproteicaPKU
- PKU Romania: https://www.facebook.com/groups/848173065281313/
To be updated with more support groups and associations.
Suggested Actions:
- Reach out to local or global organizations for support and community.
- Utilize books, websites, and forums dedicated to PKU management to better understand the condition.
- Work with doctors and dieticians who specialize in metabolic disorders to develop a personalized care plan.
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You’re here because you care about knowledge, about real stories, about making a difference for people who need it most. You know that every breakthrough, every recipe, every insight on raremetabolicinsights.com is a lifeline for someone out there.
Here’s the truth:
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Why Donate?
Every euro you give is a vote for more content, more recipes, more hope.
Your support means we can publish more often, dive deeper, and reach more families who need answers.
You’re not just donating—you’re joining a movement that refuses to let rare conditions mean rare support.
Imagine This:
Tomorrow, someone finds a recipe here that finally makes their child’s diet easier. Next week, a parent reads a guide that gives them hope. That’s the impact you can have—right now.
If you’ve ever found value here, pay it forward.
Your donation—no matter the size—keeps this community alive and growing.
“The only thing standing between someone and the life-changing information they need… is whether we show up for each other.”
What If Your Donation Could Change Everything?
Let’s be honest: most people scroll past donation buttons. But you’re not most people.
You’re here because you care about knowledge, about real stories, about making a difference for people who need it most. You know that every breakthrough, every recipe, every insight on raremetabolicinsights.com is a lifeline for someone out there.
Here’s the truth:
This site isn’t powered by big sponsors or faceless corporations. It’s powered by people like you—people who believe that sharing knowledge can change lives.
Why Donate?
Every euro you give is a vote for more content, more recipes, more hope.
Your support means we can publish more often, dive deeper, and reach more families who need answers.
You’re not just donating—you’re joining a movement that refuses to let rare conditions mean rare support.
Imagine This:
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If you’ve ever found value here, pay it forward.
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Scientific Knowledge & Personal Nutrition Stories for Rare Metabolic Conditions 
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