HERE I AM TODAY

As many of you know, I started my blog journal to help me understand what it means to have a child with a rare syndrome. It was also to help me find answers to my questions. As parents, we do our best to protect our children. But, when you find out your child has a special syndrome you are even more protective over your child.

Sometimes, it’s hard for friends, family or strangers to understand our need to proctect our child. But, we as parents of children who have Heterotaxy understand this. We have this need to want to protect them at all times. To ensure that nothing happens, to keep them healthily, and to avoid hospital stays.

I have always been super careful with Chloe even before I found out what she had. I owe it my instincts. I have always known it had to be more. Chloe would develop high fevers – followed by some type of infection. Her pedi doctor told me she would grow out of it. But, I knew she was wrong. I had to fight for answers. I don’t think certain family members will ever understand the battle that my husband and I endured to find answers.

November 2005 is when we found out Chloe’s stomach was on the right. Her pulmonary doctor at the time thought Chloe had Primary Ciliary Dyskinesia (PCD). I remember that day as if it was yesterday. I remember being called into a room far away from everyone else’s room. My sister was with me. I remember the doctor’s mouth moving but I just couldn’t grasp my mind around what she was telling me. I remember falling to the chair with tears streaming down my checks. What do you mean my daughter’s Ciliary may not be working right? What do you mean she’ll need to have a lung and stomach biopsy? I was in total shock for days.

After they did the biopsy we would found out that Chloe had GERD, Mild Esophagitis, and mild immunodeficiency. However, Chloe didn’t have any traces of her having PCD. My husband and I were grateful.

But, why is she still having these fevers followed by infections? That was my question and the answer I struggled to find out. A couple of years past, and my questions still remained unanswered. It wasn't until Chloe went to the NIH for a study. The PCD research team thought just maybe it could be PCD. The study coordinator told me if it’s not PCD then we will find out what is wrong with her. Chloe was at the NIH for 5 days. Test after test was done and blood work. The NIH took the time to find the answer to my question. I was also told even tough Chloe may not have PCD she still may carry the mutant genes of PCD. The people running the study at the NIH believe that that certain forms of CHD or Heterotaxy may have the same genetic origin as PCD.

So here I am today, trying my best to keep my daughter healthily, happy and avoiding trips to the ER. Chloe and Brady are my number one priority in life. I love my children dearly. They mean more to me than anything in this world.