No Diagnosis Drama

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drama [drah-muh, dram-uh]

Any situation or series of events having vivid, emotional, conflicting, or striking interest or results.

My original title for this post was The No Diagnosis Depression. After mulling it over, I decided it really is not a depression. Rather, it is a drama. It feels like I have vivid, emotional, and conflicting feelings with no certain result. My heart aches for a diagnosis, a reason to understand what Piper is going through. A diagnosis of which we can relate to other families with similar fates. A crystal ball to see what the future holds for my girl. We thought when we joined TGen’s Center for Rare Childhood Disorders, that we would finally get a diagnoses, an answer. God blessed us with being accepted into their research, and we are thankful.

After Darrin, Piper and I had our blood drawn, we waited. Then we waited some more. Finally, I got a phone call that had words I did not want to hear. It was the patient care coordinator from TGen. She said that the geneticists had tried exhaustively to find a diagnosis for Piper. Unfortunately, there are no known syndromes that match Piper’s phenotype. Phenotype means the symptoms she presents with like hypotonia, no speech, severe developmental delays, unable to potty train, unsteady gate/walk, often holding hands at a 90 degree angle, etc… I was told that her information would remain in their “super computer” until someon, somewhere, finds children similar to Piper and conducts a candidate gene study. Until that time, we are back at square one.

My feelings were unsettled. I wrestled with our conversation. They told me not to get my hopes up, but I expected at the very least something small. My mom urged me to call back and see if we could meet with the neurologist. There must be something overlooked or some more information that would be helpful. I explained my concerns and fears. A meeting was set up and Darrin was to join us. At the last minute, he was unable to attend because he had to cover at work. So, I took Quinn and Piper by myself.

It was a meeting of spoken words that I did not understand. My history of teaching biology helped me to understand some of their vocabulary. However, there were so many numbers and gene sequences mentioned that I could not keep up. I tried to write notes, but keeping Piper entertained and sitting in her chair was a distractor. She continually wanted me to walk her. The doctor and patient care coordinator shared they thought they had found Piper’s syndrome, but it was ruled out because I had the same mutated gene with a shank deletion. That meant that it could not be Piper’s syndrome. I felt so alone.

At home, I decided to look into this syndrome, thinking maybe they made a mistake. On the syndrome’s website there were children that reminded me of Piper. It is affectionately called the “no speech syndrome”. This described my Piper to a tee. I decided to contact the lead of the family support group just to ask a couple more questions. She willingly offered to forward our test results on to their main geneticists. Once I got the information from TGen, it was sent to a doctor in Paris and one in Mt. Sinai. They both concurred that Piper and I had such a small deletion it could not be diagnosed as this syndrome. So this truly was our dead end. It was our go back to start card.

Square one again can seem like a dead end. I can look at it like a hopeless street coming to an end with no way out, or I can choose to think of this dead end as a cul-de-sac. We will maneuver our way around the curve and head back out. The journey will continue.

Lord, I am disappointed but not hopeless. You are the one that decides the information we learn. Thank you for opening my eyes to see the pearl created by all these years of sand grinding, irritating, forming something within the oyster of my life. She is your child and that is what makes her special. Amen.

 

 

 

 

1 Comment »

  1. Oh, Jen, I know there are answers out there! I pray so often that God would reveal the answers. I know sweet Piper has so much to say, and I pray for the day you have answers. I pray for a connection to be made between what’s in Piper’s heart and mind and a means for her to communicate that with you. I also pray that through what you’re publishing here, would be a source of inspiration for other parents waiting for answers.
    You’re an inspiration, my friend!

    ❤️❤️❤️Jen Kirkman

    Like

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