Diagnosis

I don't even know how to start this post.  I haven't been able to verbally speak the words to inquiring friends.  So perhaps typing is easier.  Talking is difficult when choking back tears.

We had our meeting with the genetics team on Friday.  As we waited in the delivery room, Niko's regular doctor showed up and told us that he was asked to join.  I knew that was a bad sign.  When we entered the conference room, besides the geneticist, the genetic counselor, Niko's regular doctor, a metabolic specialist from UCSF joined us in the room.

We all took one heavy breath.  The geneticist began.  She said that they were able to conclusively confirm the diagnosis based on the blood test.  Niko has a very rare condition called I-Cell (Mucolipidosis Type II).  It's so rare that the statistics are not often agreed upon.  It occurs in approximately 1 out of 640,000 births, less than one birth a year in California.

This is a progressively destructive terminal disease.  Most babies show obvious symptoms by month 6, including physical irregularities, delayed developments and failure to thrive.  Children with I-Cell will usually develop respiratory problems, enlargement of certain organs like the liver, heart and spleen, many experience leakage of the heart valves.  Most children stop growing, in height, by the second year.  Cognitive development is questionable.  Affected children are plagued with stiff joints, limited mobility, clouding of vision, recurring ear infections, recurrent respiratory tract infections (like pneumonia).  Children with I-Cell generally live for 5 - 7 years.

In layman's terms, I-Cell Disease (or ML II) inhibits the body's cells from recycling substances throughout the body, so the cells begin to accumulate the excess carbohydrates and enzymes and fail to function properly.

This is a genetic condition.  Both parents have to be carriers, which is why it's so rare.  It's rare enough for one person to carry this gene, but to find a partner with the same recessive gene is highly unlikely.  I thought this happens to inbred folks in the south, certainly not to a mother from China and a father, born in Turkey,  of German and Eastern European decent.  Knowing that we are both carriers, we now know that we have a 25% chance of having an I-Cell baby with each pregnancy.  This still blows my mind.  

Unfortunately, there is no cure for I-Cell.  Nothing can be done.  There are some experimental procedures, by means of bone marrow transplant, to perhaps delay the progression of deterioration.  But based on what I've read, kids of the bone marrow transplants are still dying at around age 5.  This condition is so rare, that very little funding is directed to finding a cure or R&D.

Before I had the chance to ask for a second opinion the geneticist brought down the second blade in the guillotine, in case my hopes were not already properly severed.  The urine test results just came in that afternoon confirming I-Cell.  

Initially I started this blog for Niko.  I wanted her to have a pretty well documented blog of her medical records if she has any issues in the future.  I wanted her to read about her childhood.  It turns out that she will likely never learn to read.

Here is my I-Cell baby.  This is the face that I have come to love more than all the beautiful objects on earth.

3 months old