Jennifer Mazorra PKU
One of the first unpleasant experiences newborns suffer the day after they are born is the heel sticks for blood to test for several diseases.
This is how Jennifer Mazorra, 36, of Naples was diagnosed with phenylketonuria (PKU), a rare brain-threatening genetic disease. PKU prohibits the body from breaking down an amino acid (Phe) found in all natural protein and, if not managed, can lead to neurological damage and intellectual impairment. Because of the risks and the fact that the diagnosis requires strict adherence toa protein-free diet, Jenni-fer not only had to avoid meat, fish, eggs, nuts, and dairy her entire life, but she also had to avoid having her own child.
In 2014, Jennifer started a clinical trial for Palynziq (a drug that was approved by the FDA this year). The treatment has been a success, and her body is now able to break down Phe, allowing her to safely eat food containing protein and get pregnant.
This year, her son Sebastian (who turned one in September) will be experiencing solid holiday foods for the first time, and will share with his mom all of the traditional holiday foods she had to avoid as a child growing up with PKU.
Jennifer shared her unique story with Neapolitan Family.
Tell us about your experience growing up with PKU.
Growing up with PKU definitely had its ups and downs. In my younger, school-aged years, it didn’t seem like a big deal. I really didn’t know any differently. In those early years, the stress and burden fell mostly to my parents. The medical foods and formulas were very expensive, and the diet was incredibly restrictive. My mom felt immense pressure knowing that every morsel of food that went into my mouth would ultimately impact my cognitive function, emotional function, and IQ. That’s a lot of pressure for a mom.
I became acutely aware of PKU and its limitations during birthday parties, holidays, and other celebrations that often center around food. The biggest challenges were in high school. I rebelled for a period of time, which is all too common, from what I have learned from my fellow “PKU-ers.”
Later on, in my college years, Gabe (my now husband) encouraged me to get control of my diet so I could operate at my best. Even when I started the drug study, I had only moderate control of the diet, but was still able to function at a high level.
How have you expanded your diet now that your body can break down Phe?
The diet is still a learning process for me. I was telling a friend yesterday that I still have to work to unravel my ways of thinking about food; I am still changing my relationship with food. I love to cook, and now, I’m able to eat whole, nutritious foods. Our family eats a primarily plant-based diet. It has been a joy to incorporate foods like kale, oatmeal, nuts and nut butters, all the vegetables I want, and grains, all of which I wasn’t able to do before. I’m able to experiment with new recipes! I have to keep adjusting to consider healthy protein sources, and I continue to work on reducing sugar intake. As a child, my mom would feed me fruit roll-ups and juice before a meal to fill me up (these are Phe-free foods) so that I wouldn’t be hungry, and still stay in my allotted 300 mg of Phe per day. I also still experience guilt when eating high-Phe foods. I am working on erasing those ideas of “cheating,” as well as the habits I formed growing up.
Describe your experience while pregnant. Were you able to fulfill various cravings during your pregnancy?
Pregnancy was by far the most challenging thing I have ever done, though I did not experience any cravings for food. I was very ill and nauseous the whole time. My diet was so rigorous, and I was anxious most of the time about the well-being of my baby based on what I was consuming.
Throughout my early years, I stuck to a very rigid diet. However, I never had levels [of Phe] in the most acceptable 2-6 range. Because of this, I was skeptical I could achieve low levels in pregnancy. The latest research has shown that PKU women shouldcomplete a pre-conception period whereby they adhere to the strict diet, monitor regular levels, and work to achieve the proper range. During this three-month time, I found that I had to weigh everything I ate, which I had never done in the past.
What has it been like starting to feed your son solid foods?
We did genetic testing prior to Sebastian’s birth, and because we found that Gabe is not a PKU carrier, Sebastian would not be born with PKU. Both parents must be carriers in order for a baby to be born with PKU. (Sebastian is a carrier, though.)
It has been such a joy feeding Sebastian! As I mentioned, I love food, cooking, and creating healthy, well-balanced meals for the family. He loves eating black bean pasta with coconut oils, homemade nut bars, papaya, bananas, mango, peaches, and berries. He is a bit picky about vegetables, and so I sneak greens into smoothies whenever I can.
How is your life different than it was a few years ago?
My life is so full and rich now. I feel so much better since starting Palynziq because I’ve been able to get my [PHe] levels down to a normal range. Prior to treatment, I struggled with anxiety, fatigue, and brain fog. Now, I do not. For some reason, I don’t respond to a high dose of the drug. I consume about 30 grams of protein a day through food, which is an improvement from my previous allotment of 6 grams of protein per day. I still take the formula twice a day, but the dosage is much less than I used to take grow- ing up. I probably will always have to take it. I will ultimately have to take the drug forever if I want to continue a semi-normal diet. And after the extension study is complete, I will go through the process of insurance approval, which may be difficult because the drug is so costly.
What foods did you feel you missed out on during Thanksgiving as a child?
Everything! My mom always tried to make it special and create modifications that were like the regular food. Although, I always wanted to be able to eat pumpkin pie or apple pie, but I could only eat a little of the apple filling from the pie. I also always wanted to eat mashed potatoes and gravy. I was never able to eat the good turkey gravy.
What are you looking forward to enjoying at Thanksgiving this year?
We’re planning to spend Thanksgiving dinner with my husband’s family. My husband is Cuban, and his family makes delicious rice and black beans. Some of my favorite foods I now get to eat include the pumpernickel bread that accompanies spinach dip. I am excited for us to eat mashed potatoes together, too!
What is Phenylketonuria?
Phenylketonuria (PKU) is a rare condition in which a baby is born without the ability to properly break down an amino acid called phenylalanine.
Causes
PKU is inherited, which means it is passed down through families. Both parents must pass on a nonworking copy of the gene in order for a baby to have the condition.
Symptoms (if untreated)
• Delayed mental and social skills• Head size much smaller than normal • Hyperactivity• Jerking movements of the arms or legs • Mental disability• Seizures• Skin rashes• Tremors
If PKU is untreated, or if foods containing phenylalanine are eaten, the breath, skin, ear wax, and urine may have a “mousy” or “musty” odor. This odor is due to a buildup of phenylalanine substances in the body.
Diagnosis
PKU can be easily detected with a simple blood test. All states in the United States require a PKU screening test for all newborns as part of the newborn screening panel. The test is generally done by taking a few drops of blood from the baby before the baby leaves the hospital.
Treatment
PKU is a treatable disease. Treatment involves a diet that is very low in phenylalanine, particularly when the child is growing. The diet must be strictly followed. This requires close supervision by a registered dietitian or doctor, and cooperation of the parent and child. Those who continue the diet into adulthood have better physical and mental health than those who don’t stay on it. “Diet for life” has become the standard most experts recommend.
Women who have PKU need to follow the diet before conception and throughout pregnancy. There are large amounts of phenylalanine in milk, eggs, and other common foods. The artificial sweetener NutraSweet (aspartame) also contains phenylalanine. Any products containing aspartame should be avoided. There are several special formulas made for infants with PKU. Older children and adults use a different formula that provides protein in the amounts they need. People with PKU need to take formula every day for their entire life.
Outlook
The outcome is expected to be very good if the diet is closely followed, starting shortly after the child’s birth. If treatment is delayed or the condition remains untreated, brain damage will occur. School functioning may be mildly impaired. If proteins containing phenylalanine are not avoided, PKU can lead to mental disability by the end of the first year of life.
Source: University of Florida Health