This is addressed to adult women with Phenylketonuria who may become pregnant, may already be pregnant, or have had children. I am a 44 year old mother with Phenylketonuria (pku for short). I have 4 sons, ages 13 yrs., 12 year old twins, and an 11 yr. old. I was late-diagnosed at 4 1/2 years old. Pku is a rare metabolic disorder that must be diagnosed and treatment begun at birth to prevent profound mental retardation.
I was put on a very restricted special pku diet at the time of my diagnosis but was only kept on it for a year. The doctors felt like it was too late for the diet to prevent any mental retardation and suggested to my parents that they begin the process to have me institutionalized. Lucky for me my parents didn’t take their advice because I did not become mentally retarded. Any other women my age with late-diagnosed or untreated pku that I knew of were, however, profoundly mentally retarded. In 1993, at the age of 31, I gave birth to my first child. It wasn’t until he was 13 months old and my twins were on the way that I discovered something wasn’t right about my son’s development. I got him into an early intervention program after a developmental screening showed he was severly delayed in many areas. When my twins were born, they were placed in the program also-at the time as “at risk” children. It became apparent soon after their placement that they too had severe developmental delays. 12 months after my twins were born I gave birth to my youngest son. He too had multiple delays and disabilities. When he was 3 months old, I was told that my boys were severely affected by my pku and that a special diet would have prevented my boys’ disabilities. This is such a long, complicated story, but I wanted to share it and offer some advice to other women with PKU.
1. If you’re planning on getting pregnant, FIRST check with a pku clinic near you. If you’re not already on the special low-protein diet, GET ON IT. To help ensure your baby is healthy, you have to be on the diet for a certain amount of time, prior to conception.
2. If you discover you’re already pregnant and not on the pku diet, get to your nearest pku clinic and get on the diet immediately. You still have a chance of having a healthy baby.
3. If you have already had a baby, were not on the diet during your pregnancy-or before, find the nearest early intervention program and have them placed in it. If your baby doesn’t show signs of any problems, put them in the program as “at risk” children. I thought my oldest boy was healthy and normal, until we started noticing things were’nt right at 13 months. My children look completely normal on the outside. Yours probably will too, at first.
If there are developmental delays in your child that become more apparent as they get a little older, by placing them into an early intervention program right away, they’ll be in the best place possible for getting their special needs met.
I was devastated and in total denial when I first learned of , first one child’s disabilities and later on that all 4 of my babies were developmentally delayed and disabled. The best thing I ever did for them was get them into early intervention at the get go. It has made all the difference and they will be that much better off as they become young adults.
Thank you for your advice. I have a “mild” condition of PKU. I was entered into early intervention programs as a child. I have never had any setbacks. I have never been on a special diet. I am 30 now. I am beginning to *think* about conception. I am married. My parents do NOT want me to try to conceive. My husband supports my decision whatever it may be. I feel especially torn. I don’t know which way to turn! I know I am not getting any younger…
Dear Charlie,
Go and speak with the clinic you attend. As a PKU, getting pregnant needs to be planned but it’s perfectly doable. I am 33, PKU and am pregnant with my first child and all is going fine. One of my oldest friends who is also PKU had twins in March earlier this year and they are perfect. Another of my PKU friends has now had two beautiful children who are both fine. Parents don’t always know the up-to-date information that we have now and so worry about us. You need to see your clinic/dietician and then go home and explain it fully to them in order to allay their fears. None of you need be worried. There have been many many perfectly healthy babies born to PKU mothers. It will be fine as long as you are doing it in conjunction with the clinic.
I think that having CPKU and being pregnant is so very scary! I have had two miscarriages in the last 4 months. I am devastated and I feel like a failure at life. I have never felt like PKU was making me a complete outsider until now. I have led a great life and always done really well socially and in school. I am outgoing and never wanted this to stop me from living a full and amazing life until all this now with me trying to have children. I am so confused and I am not sure if I should try a third time to have a baby on my own or science is not in my favor here and there is so much that is against my body. There is so much that I do not know. I was taken off diet at age 9 or 10. I went back on diet at age 23an at my request and I will never go off! I am 27 now. I never was asked to be taken off diet and I was perfectly content in my little PKU bubble of food choices. I just want to let everyone know to talk with their doctors and really see IF,IF,IF having babies and dealing with PKU is really what you want to do. I am not sure we know what we are really up against. I am heart broken and devastated over my 2 resent miscarriages and I am not sure what to do right at this time in my life. I just want to wish everyone the best and by the way, my genetic doctor told me I miscarried due to the PKU. I was so ANGRY and thought it was a bold statement and maybe it was something else. How did she know??? I could have other issues. Why was she hurting me so much and telling me this? WHY? Well, from what I have read in the limited literature, I think she was right and I HATE that she was. That was her bold statement and it smacked me in the face and I felt like a failure at life! My emotions are still very raw and I hope that God and science will help me decide what is best for my non-PKU husband and myself. I wish everyone success on this really hard diet. Our doctors WILL NEVER get how hard this is for us all to deal with at times!!!! I do not care how much they try or what they say. Good luck to us all in this some times very, very lonely PKU community.
dear jessie, I am a 38 year old pku sufferer and I just wanted to let you know my story. I have a 9 year old daughter and a 4 year old daughter who are very fit and healthy and are doing well at school. I followed a strict preconcemtion diet, found it very hard but thankfully stuck at it. however last year we decided to try for another baby followed the diet again and became pregnant. Sadly at just 6 weeks I suffered a miscarriage I blamed myself thinking I hadnt controlled my diet properly but my dieticion assured me my levels were perfect and what had happened had nothing to do with my pku. I know how hard it is to suffer a miscarriage but a lot of pregnancies end for no apparent reason. I thought I would never go through that again but I am at the minute on a preconception diet hopefully to have another try. Please dont let pku put you of as I know it can be done. I have 2 beautiful daughters which I never thought was possible.
hi iam 37 years old and i have pku and i also have 2 beautiful boys aged 6 and 3, and i am glad i didn’t listen to doctors and prople in my life when i fell pregant with my first child,i was told all of my life not to have children, because of what the out come could be well i’d just like to let you know that my oldest boys has some delay and micro,but a part from that he is just perfect,and so is is brother, i am gald i had them bcause all i ever wanted was to have children of my very own and would’nt change it for the world,it was the hardest thing i have ever had to do but it was well worth the pain and tears.
In reply to Cathy and Jessie.
I am 27 and have recently returned to my diet as my husband and I would like to start a family. I a mpretty scared about the whole thing and although my husband tries to be supportive and understanding, I do not think he really understands how I feel. May be I am thinking about it too much but I am concerned that I will not be able to have a healthy baby because of my PKU even though I am determined to stick to the diet. Its nice to know that I am not the only one feeling this way. Good luck to you both.
How Long do you need to be on the diet before conception
Dear Jeesie,
I only want to know that i’m agree with you … I believe that it’s so hard to our doctors know how the pku persons feel about the poor diet that the pku persons have to have.
And you are right to feel that way … I hope with the time you would can tell us other story, with a great end, because you are so young.