Annalisa is my youngest daughter. She is 2 1/2 years old. She is a fiery little redhead with bright blue eyes. She has a great sense of humor and is always putting on funny hats and glasses and posing for the camera. She and Riley are both bilingual, speaking Spanish as their first language and English as their second, but they move effortlessly between both languages and speak Spanish to each other. That is due to my wife, Kate, who has spoken to them in Spanish since they were born.

Annalisa was diagnosed with ILD (Interstitial Lung Disease) when she was six months old. ILD is a broad sweeping term. All we know is that she does not get enough oxygen to her cells to be at a healthy saturation level so she has to be on oxygen 24/7.

Following is a lot of scientific talk about one of the possibilities for Annalisa’s disease. She has ILD and it may be caused by a gene mutation that has not been identified yet that messes with her surfactant production. There are other theories that she may have an immunity problem and that is also being tested right now.

[Pulmonary surfactant is a mixture of lipids and specific proteins that reduces surface tension at the air-liquid interface and prevents end-expiratory atelectasis. Lack of surfactant is the primary cause of respiratory distress syndrome (RDS) in infants born prematurely. Although surfactant phospholipids are primarily responsible for lowering surface tension, two small hydrophobic proteins, surfactant proteins B and C (SP-B and SP-C), have key roles in regulating surfactant function and metabolism (1). SP-C deficiency and mutations in the SP-C gene (SFTPC) have been associated with both sporadic interstitial lung disease (ILD) due to de novo mutations and familial ILD inherited as autosomal dominant (2-10).]

Annalisa’s condition has been getting worse so we had to take her to Children’s hospital the first week of January to get a biopsy of her lung tissue. This was the second biopsy on her lungs, and it wasn’t fun at all. It was awful watching Annalisa go through these tests when she was seven months old, and it’s not getting any easier. All we can do is pray and hope that the doctors find a way to cure her or that she simply grows out of it.

She is so amazing though. She has been so brave and such a good patient. She never complains about the tube that’s been in her nose for the last 2 years. She laughs and she loves and she clings to her mommy. It’s really hard to go to Europe to race when she is in this condition, but there is nothing I can do right now. I am writing with a heavy heart. I just want my little girl to get better.

This entry was posted on Tuesday, January 8th, 2008 at 10:33 am and is filed under caseypuckett. You can follow any responses to this entry through the RSS 2.0 feed. You can leave a response, or trackback from your own site.