PKU Patient Registry Testimonials

So many families and individuals with PKU have already made a difference by joining the PKU Registry.  You’ll want to read about their experiences of participating in the registry and why it is important to them! Who knows what a difference YOU could make?

Allison F., mom to Sean, who shares her thoughts on the PKU Registry

What are some of the reasons that you joined the PKU Registry? 
For us, there was no downside to joining the PKU registry. We believe that research into a PKU cure can be significantly helped by more data and information. The more people that participate in the Registry, the stronger it becomes as a unique resource for further research into treatment and ultimately a cure.

What challenges do your family or your son faces in managing his PKU and how could researchers  improve this?
Sean is a teenager now, and maintaining dietary compliance is a daily battle. He is also growing rapidly, so keeping him feeling satisfied without going over his daily phe allowance is difficult as well. As a teen, there is also a strong social component to address – Sean wants to eat what his friends eat – hamburgers, pizza, all the good stuff! It’s tough for him, but his discipline amazes us. He is a very tough young man.

Why do you took advantage of genotyping through BabyGenes lab that is offered to registry participants? Would you encourage others  to utilize this feature?
Having Sean’s genotyping completed with the help of Baby Genes was a no-brainer. Insurance coverage for the testing was not available, so we felt really fortunate to have that option at our disposal. The process was very simple – they provide you with clear instructions, and results were available in a matter of weeks. We would absolutely encourage other PKU families to look into this option

Any other thoughts you would like to share? 
We tell Sean that a cure will be available “in his lifetime.” We would like to be able to tell him that there will be a cure before he is out of his teens.  We feel so hopeful that the cure for PKU is on the horizon. The more information we have as a PKU community to realize that goal, the better. 

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Rhonda C. is participating in the PKU Registry on behalf of her son. She took the time to share why this is important to her. Please read about her thoughts: 

Why did you sign up for the PKU Registry? 
It is important to have my son’s information in the Registry to participate in possible research opportunities. I am hopeful that there will be more treatments available for PKU.

Were the Surveys Difficult to Complete?
Completing the surveys is easy! You can take a break and come back to them at any time. I started with the shorter surveys and came back to the ones for which I needed to gather information.

About how long did it take you to fill out all of the information?
The first time I took about 20 minutes to get registered and begin the surveys. I then came back and spent another 20 minutes on the next few surveys. This way, it didn’t seem like it took a lot of time.

Why do you think it’s important for others to join the PKU Registry? 
We have heard from the FDA that having a comprehensive PKU Registry will make it easier to get any new drugs or treatments for PKU approved. If it can help get better treatments or drugs to market faster, I will do my part and complete the surveys. Everyone with a child with PKU or adult that has PKU needs to join the PKU Registry to do their part in getting better treatments!

What is hard about having PKU and what would you like to see happen as a result of the information that is gathered in the registry? 
Staying on diet as a teenager or adult is difficult. I hope that soon there are more treatments available. Having this PKU Registry will move research through the FDA faster. We all need to do our part to assist in this process.

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Heather B. is participating in the PKU Registry on behalf of her daughter. She took the time to share why this is important to her. Please read about her thoughts:

Why did you sign up for the PKU Registry?
To join the efforts of bringing more information about the PKU population into one database.

Were the surveys difficult to complete?
I have a child with PKU so I filled out the forms for her as a parent. I did not seem to think it was hard.

About how long did it take you to fill out all the information?
30 minutes. I did them as I had time. It is easy to sign in and out and fill out each form as I could.

Why do you think it's important for others to join the PKU Registry?
This will help funding and research. Opens opportunities for doctors and scientists to see information that they
need to find better treatments for PKU.

What is hard about having PKU and what would you like to see happen as a result of the information that is gathered in the registry?
I want to be a part of helping make a better future for my daughter and others with the daily struggles of PKU. I
want her future to be easier and have less limitations. Knowledge of others living with PKU helps all come together as
one to fight for a cure.

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Jerry and Jill E. and their son Hudson are participating in the PKU Registry. They took the time to share why this is important to them. Please read about their thoughts: 

Why did you sign up for the PKU Registry? 
We want to do everything in our power to gather information to help support anything that will help individuals with PKU (including treatments, every day maintenance of diet, and an eventual cure). 

Were the Surveys Difficult to Complete?
No. They just took a little bit of time to gather all the medical data from two different hospitals as we had moved.

About how long did it take you to fill out all of the information?
 It took three months to gather all the data (hospitals move slow). However, the entry was painless. 

Why do you think it’s important for others to join the PKU Registry?
We hope that all families / individuals with PKU are doing everything in their power to help us all find treatments and an eventual cure for those living with PKU. We owe it to these people to make this better because current treat is not sufficient. 

What is hard about having PKU and what would you like to see happen as a result of the information that is gathered in the registry? 
Everything is hard about having PKU and adhering to the strict diet. We need to gather this information so that our researchers can find the treatments / cures that we are need so desperately!!! 

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Alison Reynolds and her daughter Tia are participating in the PKU Registry. They took the time to share why this is important to them. Please read about their thoughts: 

Why did you sign up for the PKU Registry? Because we realized that the registry will help to shape PKU

 patient care and research priorities, as well as provide important data to be used in future treatment development process.   

Were the Surveys Difficult to Complete?
Not at all. The questions ask things that you think about regularly when managing PKU day to day. It is information you tend to just know. The only item that required me to look up information was on my daughter's two mutations. I knew one by heart, but I was having trouble remembering the second one.  

About how long did it take you to fill out all of the information?
Just over an hour. The interface makes it easy. 

Why do you think it’s important for others to join the PKU Registry?
Because there is a "network effect" with a patient registry- the more that use it, the more valuable and helpful it becomes! The data captured will make a difference to the future of PKU care and research, so therefore, it is vital that we all join.

What is hard about having PKU and what would you like to see happen as a result of the information that is gathered in the registry?
Despite the attention and work patients and families put in on a daily basis to keep their loved one healthy, we know now that unwanted PHE still gets to the brain and can do damage. This is frustrating. It is hard to not have satisfactory treatment options. We have one viable option today for all kinds of PKU, including classical, the most severe. We would like to see the registry speed up treatment research and provide drug developers, the FDA, and other stakeholders the data needed to help bring more treatment options or a cure to market.  

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