Saturday, December 6, 2008


This is my son Seth. He is 9, the second oldest. He was born with PKU (abbreviations for a REALLY big disorder). He is unable to process certain proteins. If those protein were allowed to build up, they would eat at the grey matter in his brain. He would be totally mentally retarded by the time he was 3. But he's not. He is a healthy, intelligent boy. PKU is screened for at birth. He was diagnosed at 11 days old and treated. To this day he is totally unaffected. Today I had to tell him that we were going to lose his baby brother. I had to tell him that if Grey had been screened for Krabbes Disease he could have been treated and healthy. I had to tell him that people before him had to die so that he could be tested for PKU. He asked me why his disorder was more important than his brothers, important enough to be tested. I don't know Son. I just don't know.

I can't help but feel that this whole thing is bigger than me, that I'm supposed to do something with the loss of my baby. Really, what are the chances that my husband and I are both recessive carriers for two totally unrelated disorders? Why was one of our sons spared through newborn screening while the other was ignored? I don't know. I just don't know.

I feel like we're the poster family for flawed genetics. But if you knew us, you'd know we're not a flawed family. I feel like God has chosen us, a Special Ed. teacher and a nurse, along with our sons, to make a difference. Together, as a family, I feel like we were chosen to bring awareness, to make sure that no one disorder is any less important than the other.

I wonder how Seth will make it through this. How will he not feel guilty about being tested when his brother was not? I don't know. I just don't know.


Carrie said...


My heart breaks for you. Unfortunately, I somewhat know how you are feeling right now, as we are currently waiting skin biopsy results on my 4-month-old daughter. The lead diagnosis the genetics doctors have is something that would take her away from me in just a few years. Most of the diagnoses they are testing for (including Krabbes) are really difficult for me to grasp right now. If you ever want to talk, I'm here.

Hannah's story is at

Larissa said...

Nic, I know that your family will make a huge difference! Your strength for my brother and the boys has been amazing. I am behind you 100%!!

I love you!

min4asl said...

In his life already Grey has touched so many people and spread so much love. I know you will continue to make a difference. Larissa is right, your strength is amazing! You may not feel like it but you are the rock your boys are leaning on and if you ever need someone to lean on I'm here for you!
Love You...