Pulmonology

We had an appointment with a pulmonologist yesterday.

So far Niko is breathing fine.  Her oxygen level is at 99%.  Even though everything checked out fine yesterday.  The pulmonologist had a lot of concerns.  So I asked him my usual question, “Have you worked with any I-Cell patients before?”  To my surprise, he answered, “Yes.  One.”

He is in the Pediatric Subspecialties department and he sees a lot of children with metabolic storage disorders.  And though the other various forms of metabolic storage diseases (like Hunter syndrome or MPS) require different treatments, the symptoms are very similar.  Of the doctors we've seen, this doctor is, by far, the most knowledgeable with regards to I-Cell.  More importantly, he seems to know quite a lot about the specific details involved with caring for Niko.

He talked with us about the 3 different factors that will eventually affect Niko’s ability to breathe. 

1)  Her small chest.  Her chest will eventually become too small for her lungs to properly expand and thereby restricting sufficient oxygen. 

2)  Overgrown tissue.  One of the many symptoms of I-Cell is overgrown tissues and organs.  Due to the flawed cellular enzyme storage, she will likely develop thickened valves around her lungs, obstructing her airways. 

3)  Reflux.  With so many organs (potentially enlarged) packed into a tiny body, acids will get pushed up and can enter her lungs. 

He also talked a lot about practical advice.

Sleep position.  Side sleeping is best for her on an elevated bed to prevent reflux.  He made a referral for a sleep study.  I’ve read from other blogs that this is a rather unpleasant experience.  I better prepare myself.  

Reflux and Gas treatment.  We are starting Niko on Zantac to hopefully calm her reflux and get me some much-needed sleep at last.  (Niko wakes up every 30 mins on average!)

Respiratory Rate.  We should occasionally track Niko’s respiratory rate (the number of times her body expands and contracts with her breathing per minute).  It should be around 45.

Insurance.  I was surprised that he spent so much time talking to us about this.  I’m sure it’s because he sees a lot of families go down this road and the financial burden the unfortunate conditions have caused.  We will likely need equipment for Niko.  Oxygen, walkers, and other equipment that I don’t care to think about right now.  This doctor really took the time to discuss ways we can get help or change our insurance plans, because currently equipment is not covered in our plan.   

Therapy.  He talked about how this can sometimes break people or their marriage.  He suggested we try counseling.

Social worker.  He is contacting a social worker for us to see what kind of help we can get (i.e. caregiver, insurance, financial, etc.). 

Next steps.  I will be the first to admit that I’ve been really lost since receiving the diagnosis.  My brain is pretty fried despite the fact that I’m trying to put on a good strong face for Mila, Kiril and family/friends.  I’m certain that this doctor does not know everything.  But he is the first person to actually suggest a plan regarding our next steps.  He’s putting dates and appointments in our calendar to see other specialists.  Though some might prove to be unnecessary, I’d rather see these specialists and weed out the ones we do not need to revisit than miss some crucial steps.