Wednesday, March 30, 2011

Pyruvate Dehydrogenase Complex Deficiency

I want to start out this post with an update.  Further down you will see me write proudly about our decision not to vaccinate. Everything about the decision was wrong, from my reasoning to the results. My intentions were well-placed, but we know where intentions can lead. The last five years has been a complicated journey, a road where I have grown and learned a lot.  Two years ago our decision not to vaccinate put Brianna in a frightening and vulnerable position and we saw her suffer a lot from my mistaken reasoning. Fortunately, she did not lose her life, but she could have, and children with her disorder have from the flu. But it put into stark relief how much we had at stake. She and our other two older children are now caught up on all their vaccinations - it took about 18 months and nary a reaction other than screams of protest, even from Brianna, the child most likely to and vulnerable to a reaction. Our fourth child is now vaccinated on schedule.

The day has come. We have finally received the "official" diagnosis for Brianna. Last Monday we were called in to meet with the genetics/metabolic nurse to receive the news that we suspected, but was now confirmed. They got back the skin biopsy and the blood test that confirmed that Brianna has Pyruvate Dehyrogenase Complex Deficiency (PDCD).

PDCD is a very rare disorder. Most people have never heard of it (I sure hadn't!). There's a few hundred cases across the country. Rather than try to explain it, here is a link to the National Institute of Health's rare disease database explanation of PDCD.

Brianna has the mutation on the E1 alpha gene. We don't know if it's a new mutation in her, or if she inherited it from me. They drew blood from me last week and sent it off for genetic testing. If I am a carrier, since it is X-linked, that means that every child will have a 50% chance of inheriting the gene.

So there's a lot going on in our heads right now. It's hard to find a positive in finding out that your child has a progressive metabolic disorder. To know that there is no cure or "fix" and that in time, things will get worse. There's no way to know if it will be 1 year or 30 years.

There are good things though. Brianna is doing very well despite her disorder. The metabolic nurse that works with us says that in 18 years she has seen 6 cases of PDCD, and Brianna is the least severe that she has seen. There are 5 other cases currently on the island (4 of those are treated at Kapiolani, the local hospital, not Tripler where we are seen, the military hospital), and Brianna has the least severe presentation of those cases. So there is a lot to be thankful for. She is still making progress in her development. With the new medications, we've seen a lot of progress in her energy level, and her seizures are rare now that she is on anti-seizure medications.

The disease progresses the most slowly when healthy. Sickness is what speeds progression. We are so grateful that she has such a strong immune system. I thank God that we were led on a path that has helped make her so strong. If we had made different choices, I think that she would have been in a much worse state right now. She breastfed for over two years - the first nine months was exclusive. After that it was just limited solid food. She didn't have any formula until after her feeding tube was put in, and she was 16 months old at the time. And now I am able to continue pumping milk to give her several ounces a day. There is so much immune system-building properties to breastmilk, I really believe that this is an enormous reason why she is so healthy. If I had listened to the doctors and nutritionists who encouraged me to back off breastfeeding and supplement, well, let's just say that I am very happy that I listened to my gut.

She has also never had a vaccination. I know this is a hot topic, but we made the choice not to vaccinate. One of the biggest reasons is because we believe that God created our bodies to work a certain way. I truly believe that vaccinations interfere with the immunological responses of our bodies (well, I don't believe that, I know that because that's the point of vaccinations). While the principle is great, I think that the immune system is overloaded by the massive amounts of vaccinations that are given the first few months and years of our children's lives. And for some children, that overload causes serious damage. And there's no way to know if a child will be more susceptible to that. Look at Brianna. There was no obvious reason not to vaccinate, except for our philosophical and religious beliefs. Although she was small, she was deemed healthy, and no one implied otherwise for the first five months of her life. We didn't know that she had a serious health condition. A condition that puts her at risk for vaccination reactions. Reactions that could very well have resulted in her getting lactic acidosis, and since they had no idea what was wrong with her - it most likely would have resulted in a massive decline, and very possibly death.

I'm so grateful that my big sister paved the path for me, and caused me to think about a lot of the parenting decisions we have made. I really believe that if it weren't for her, we might have made different choices, and blindly listened to her doctors without realizing the implications - even the "minor" ones at that point, that our daughter might not be with us today. Thank you, Heather. You have no idea how much you've helped us walk this path.

So there is so much to be thankful for. We could look at this as something devastating, and let it cripple us. We could rage and curse and turn our backs on God because he "allowed" this to happen to us. Do I cry out to God? Do I ask Him why us? I absolutely do. But I look at Job, and I remember God's response to him. Basically, to remember who he is talking to. God sees the bigger picture. We don't know what is going on behind the scenes. I know that this is not something God is doing to us. It just IS. Pain is a part of life. Part of being in a sinful world.

I look at Brianna, and instead of seeing a tragedy, I choose to see a miracle. She is an amazing and special little girl. One who has overcome incredible odds and continues to surprise and delight us. She has a smile that will melt any heart. She is our Holland.

Emily Perl Kingsley.

c1987 by Emily Perl Kingsley. All rights reserved

I am often asked to describe the experience of raising a child with a disability - to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It's like this......

When you're going to have a baby, it's like planning a fabulous vacation trip - to Italy . You buy a bunch of guide books and make your wonderful plans. The Coliseum. The Michelangelo David. The gondolas in Venice . You may learn some handy phrases in Italian. It's all very exciting.

After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, "Welcome to Holland ."

" Holland ?!?" you say. "What do you mean Holland ?? I signed up for Italy ! I'm supposed to be in Italy . All my life I've dreamed of going to Italy ."

But there's been a change in the flight plan. They've landed in Holland and there you must stay.

The important thing is that they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It's just a different place.

So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.

It's just a different place. It's slower-paced than Italy , less flashy than Italy . But after you've been there for a while and you catch your breath, you look around.... and you begin to notice that Holland has windmills....and Holland has tulips. Holland even has Rembrandts.

But everyone you know is busy coming and going from Italy ... and they're all bragging about what a wonderful time they had there. And for the rest of your life, you will say "Yes, that's where I was supposed to go. That's what I had planned."

And the pain of that will never, ever, ever, ever go away... because the loss of that dream is a very very significant loss.

But... if you spend your life mourning the fact that you didn't get to Italy , you may never be free to enjoy the very special, the very lovely things ... about Holland .


  1. You truly are an inspiration Phaedra - one of the strongest women I know. I am awed & inspired by your faith and positivity. Brianna is a lucky little girl to have the family she does - and her family is so lucky to have such a smiling, bright light in their lives. A HUGE lesson in listening to the "Mommy gut." Our continued prayers and positive thoughts to that beautiful little Brianna and her wonderful family. HUGS from Heather from babyfit Sept. '08 Mamas.

  2. <3 Phaedra, I am so proud of the mom you are - because you do listen to your gut and you have tuned into what it's telling you.

  3. She is so darling! I love the blog post, and as a mom who also nursed for over 2 years....I heartily agree with you about how breastfeeding has helped keep Brianna healthy! How wonderful that you had Heather as a sort of role model and voice of support. Too many women have forgotten how to listen to their gut.

  4. Hi Phaedra, I was interested to find your blog as we also have a child with PDCD. She is now 9, and got the diagnosis at 18 months.


    1. Lucy,

      Would you be willing to contact me? We are waiting for the test results for our 11 week old daughter for PDCD. As you know we have tons of questions, and it seems the doctors do not give the best answers. My email is

      Thank you!

  5. I am very interested in talking to someone else with a child with PDCD. I have a cousin who will be 8 years old on February 6th. He was diagnosed a little after he turned 1. If anyone would be willing to contact me at I would love to talk to you!