December 2008 email

This email was sent to family and friends after we received Connor's diagnosis and learned more about his disease. The comments in BOLD are updated information based on some common questions we've gotten:

As many of you may know, Connor, our new baby son, has had some health issues since birth. Connor was born on June 4, 2008. He was in the NICU for a week after his June 4th birth and has since had multiple hospital stays - two weeks in September, three days in October, almost two weeks again in November, and now this December admission. For a while during his September stay, the doctors could not identify the cause. In October, we confirmed his diagnosis as Pearson Syndrome.

What is Pearson Syndrome?

You probably don't know what that means, as this is an extremely rare disorder. I'm very sad to say that the prognosis is poor.

Pearson Syndrome is an extremely rare congenital disorder (less than 100 cases reported worldwide since it was first identified 30 years ago) caused by significant mitochondrial (mtDNA) mutations. The mitochondria are structures in our cells that provide energy for the cells to function. In Pearson Syndrome, the symptoms of the mtDNA deletions/additions are seen primarily in the blood and bone marrow cells resulting in anemia and low white cell counts, and can also cause pancreatic insufficiency, and liver and kidney issues.

Some of you have asked - "Since the cause is genetic, does that mean he inherited this?" - The answer is probably not, at least not the way inheritance is usually thought of.

First, it is his mitochondrial DNA that is damaged, not the nuclear DNA people usually think about that makes up the X and Y chromosomes that we inherit from our parents - half from mom and half from dad. mtDNA is the DNA of the mitochondria - a subcellular structure. Mitochondria are the only subcellular structure that has its own DNA. Ours come from the mtDNA in the egg that gets fertilized during conception.

Second, even though he got his mtDNA from Mom, the cause of Connor's Pearson's is thought to be a mutation in his mtDNA when he was formed, not something automatically passed from parent to child. Thus, the risk of a sibling or another relative having Pearson's is slim.

What does this mean?

This is an incurable, progressive and multi-system disorder. Because the damage is at the cellular level and affects his entire body, there is currently little, medically, that can be done to address the underlying cause. Instead, his immediate symptoms are treated as they become apparent.

Plainly stated, he cannot be cured. There is no easy fix with a surgery or drug. His body will either keep working well enough to live or it won't. We have seen him bounce back from what seemed to be the end and it gives us hope that he will keep laughing and playing as he is doing now.

    • He may receive multiple types of blood transfusions for anemia and coagulation issues - red blood cells, plasma, platelets, etc.
    • Since his white blood cell counts are low, we have to protect him from exposure to infections and treat any infections aggressively.
    • His lactic acidosis requires monitoring and an increased intake of sodium.
    • His difficulties in absorbing nutrients may require supplemental feeds through a feeding tube or via IV nutrition (TPN).
    • As he suffers liver dysfunction or failure, he may receive a concoction of support drugs.
    • Other organs/systems can be affected as well, such as loss of muscle tone, kidney issues, vision, etc.
    • Each organ system showing acute symptoms may need to be treated separately, if it can be treated at all.

Pearson syndrome is usually fatal within the first three years (60% mortality rate). The main causes of death are infections, liver failure and metabolic crisis (due to lactic acidosis). If the child survives beyond infancy, the issues with the bone marrow and blood may resolve, but he will develop other complications that affect his muscles and/or brain (Kearns-Sayre Syndrome (KSS) and/or Leigh's Syndrome). The oldest reported case that we are aware of lived to the age of 26 (anecdotal), but the vast majority pass away much earlier.

Because of the rareness of this illness and lack of information available, we do not know what areas will show symptoms and how quickly he may deteriorate or improve after an acute attack. We hope that he will live comfortably for a very long time.

We are treasuring the time we have with Connor for as long as he is with us; taking joy in when he is happy or cheerfully contemplative as he so often is. Thank you so much for your love, support and prayers. This has been a very difficult time for us and we are blessed to have you help see us through this.

With love and warm regards,

-Connor & Family