Trisomy 13/Patau Syndrome

For You formed my inward parts; You covered me in my mother’s womb. I will praise You, for I am fearfully and wonderfully made; Marvelous are Your works, And that my soul knows very well. My frame was not hidden from You, When I was made in secret, And skillfully wrought in the lowest parts of the earth. Your eyes saw my substance, being yet unformed. And in Your book they all were written, The days fashioned for me, When as yet there were none of them. Psalm 139:13-16 NKJV

I have been writing this post for a few days now, trying to figure out what exactly I wanted to say, where to start, and how to say it. Well where do I start, I start at the same place we started this journey... our precious little girl was fearfully and wonderfully made by our great and good God. He made formed her little body, and He doesn't make mistakes. None of this comes as a surprise to Him, and He continues to direct our every step as we walk this difficult path. The beginning of last week, I really struggled with feeling very inadequate and insufficient, it has been difficult to discern what Alegria's needs are and how to meet them. I finally realized that while yes I was inadequate myself, my great God who created her knew exactly what her needs were and how to best help her and if I just continue relying on Him, He will give me wisdom and direction.

Al and I both have realized for sometime that Alegria had more going on with her than had yet been diagnosed. From the time she was born, we were warned that since she had a cleft lip and palate, there was a slight chance she might have other issues, but it was described as unlikely. Al first truly realized there was likely yet more to be found after they diagnosed the congenital heart issues, I realized it the first few days we were home from the hospital when I saw that her left pupil and iris were mishaped and did not react to light. Yet we felt strongly that we needed to address the issues in order of priority and not put her through any more testing or procedures than would greatly benefit her care now as every test and procedure seemed to set her back a few days recovering. While we were in the hospital last time after she had stopped breathing again, the doctors urged us to have a chromosome test run on Alegria so we could have a better big picture of what was going on with her and we consented.

On last Wednesday, I spent quite a bit of the afternoon trying to track down the results, but was finally told they were not yet complete. Thursday morning, the neurologist's office called to let us know the results were back and they would like to discuss the abnormal results in person. While we had not actually been given the results, I started researching chromosome abnormalities. What I found was that the most common abnormality occurs when there are 3 copies of one of the chromosomes. This is called trisomy. The most common of which is trisomy of the 21st chromosome (Down's Syndrome). As that didn't really seem to fit Ali's symptoms, I began looking at the other two trisomy syndromes (Trisomy 18/Edward's syndrome and Trisomy 13/Patau Syndrome). Wow, it just seemed to make sense like all of the puzzle pieces coming together. The more I read, the more I realized this was likely what we were dealing with. In many ways, it was some what a relief to have a name to put with all the symptoms. It felt like if we just know what we are dealing with, then we can know better how to fight it.

Today we were given the results, and Alegria has the rarest of the 3 trisomies, Trisomy 13/Patau Syndrome. Honestly, the diagnosis doesn't change a whole lot. We have already diagnosed a lot of the symptoms associated with the syndrome, this just links them all together. The statistics on Trisomy 13 are frankly very grim. It is not the trisomy itself which is fatal, but the symptoms which accompany it (heart defects, apnea, and increased risk of pneumonia) BUT as our Christian surgeon said today some of those numbers are in large part "a self fulfilling prophecy" due to the fact that doctors often paint such a grim picture that parents are encouraged to not give life-sustaining medical care. I am honestly thankful we did not have the diagnosis sooner. It has given us time to gradually accept it. Both Al and I have already been prepared for some time now (at least mentally) that we may not have Ali here with us for very long, but we are hopeful God will give us many more days to love and care for Ali. Alegria has already passed many crucial milestones. She was born alive (a large percentage with Trisomy 13 don't). She survived her first week of life (only 50% of those born alive do). Only 5-10% of those born alive actually survive to reach their first birthday, BUT the good news is that 5-10% DO survive past their 1st birthday!!! I have read many stories of hope on the internet of children who are surviving with Patau syndrome. I would encourage those of you interested in reading more about Trisomy 13 to check out this very encouraging site I have found... http://www.livingwithtrisomy13.org/

We continue to hope and pray Alegria will grow healthy and strong, but we continue place our trust in God alone and we continue to see Him guiding and directing each step of the way.

And we know that all things work together for good to them that love God, to them who are the called according to his purpose. Romans 8:28

Continuing to hope,
Al and Jill