My son was diagnosed with cTTP, or Congenital TTP, at age six in March 2020. Four days prior to his diagnosis, my son was vomiting for three days, unable to keep even water down. Both his one year old cousin and our other four year old son had the stomach flu, so we thought it would pass.
The day my son returned to school, we were told by his teacher that he looked yellow midway through the day. Upon picking him up, he was obviously jaundiced and mildly lethargic. That morning we had equated the lethargy to be caused by the prior days of inadequate eating, though the jaundice was concerning. My son was acting normal, wanting to play and watch tv, though he still refused to eat past a few bites of food.
Upon arriving to the emergency room, he went through ultrasounds and chest x-rays, took multiple lab tests that showed no infection and tested negative for any flus. After re-running the blood samples, a doctor admitted my son, not knowing what exactly his affliction was. His platelets were at 8 for the first test and 6 upon retesting from the average of 150-400, yet they couldn’t figure out why.
HUDS had been ruled out as he didn’t have any loose bowels, leading them to believe it was ITP, though that didn’t explain the destruction of red blood cells, petechiae or the jaundice. Under the impression it was a destruction issue, my son was treated for two days with IVIG which was meant to “reset” his antibodies from destroying the platelets he was making. However, his platelets only rose to a 9 on the third day of his hospital stay. Their theory extended to issues with bone marrow, as his body wasn’t making reticulocytes, causing them give an infusion of platelets. Afterwards, his platelets sat at 95 and they told us all we could do was wait and see if the count dropped significantly the following morning. If they did then they would perform a marrow aspiration and biopsy.
Miraculously, my son’s levels the next morning were in the 170’s and his hemoglobin, which had followed a trend of 10 to 9 to 7 since our admittance, had jumped back up to 9. Bilirubin was down as well as destruction of red blood cells.
Upon these unexpected results, our attending hematologist had done further testing and believed it to be a mild episode of congenital TTP. They performed further tests on his ADAMTS13 enzymes, which the doctor warned may be inconclusive, though he believed it is congenital because the platelets my son was given had a small amount of plasma. ATTP would not have responded as quickly to the minimal amount of plasma, but Congenital TTP would have because his body does not produce a fully functioning version of the ADAMTS13 enzyme. cTTP is treated through plasma infusions upon episodes and have few cases with renal failure, which my son showed no symptoms of.
The hematologist further questioned if my son had a history of petechiae to which we mentioned 18 months prior taking him to urgent care for very slight yellowing of the eyes as well as his entire body being covered in petechiae which I had thought to be the beginning stages of chicken pox. The urgent care doctor had simply waved us off as the petechiae being caused by coughing too hard and filled a Rx for a sinus infection.
Our hematologist was furious, to say the least, and we have now developed a plan to contact their clinic or go into the ER as soon as we see petechiae, since he had no other outward symptoms aside from the jaundice.
Currently, there are only around 100 reported cases of cTTP in the world and we are having to do monthly blood testing to maintain his levels. In the United States there are no prescriptions approved for the treatment of cTTP in children, so all we can do is wait and watch for the signs of another episode.
It’s difficult knowing the steps we should take in his daily life, since no one knows the exact triggers for an episode. We aren’t sure if we should allow him to continue his life as normally as we can, letting him continue to do physical education and sports, or if we should shelter him more. He’s a very hyperactive child, and we don’t want him to miss out on being a kid, because he’s not actively sick unless he’s having an episode. It’s a puzzle, but we’re making our way through it slowly and are adjusting where we need to. It’s all anyone can really do with such a rare disorder.