A recent Pre-K graduate. Halcyon is growing everyday. She loves funny sounds, the book Brown Bear, and above all people! No stranger danger here. She’ll work a room like a mayor, reaching up to feel the vibrations of a person speaking, or feel their funny beard. She loves her sister, laughs at all the right points of a funny story and  spreads love and happiness with her infectious laugh. She loves watching her sister, and wants to grow up to be just like her someday. 

Just before Halcyon’s 2nd birthday we got her diagnosis of TFE3.

An enlarged nucal fold had been detected in utero and all the available genetics tests had been run on her placenta at 20 weeks. Because TFE3 is such a new condition it wasn’t detected.

Our first indicator that something was different about Halcyon was that she didn’t pass her newborn hearing screening. At about 2 weeks we noticed a strange pattern on her calves. We would learn that these were called blasco lines, and that she had something called pigmentary mosaicism, modeling of the skin. The pigmentary mosaicism was benign and at an appointment with a geneticist we were told Halcyon had had the best genetics testing done with the placental test and so no further action was taken.

On Halcyon’s 2nd night in the world before bedtime she had a terrible fit of crying, the likes of which we had never seen with our first daughter. These fits continued and the pediatrician chalked them up to “the witching hour”, when children typically hit a wall. These were beyond that and we would spend an hour-1/2 running around bouncing her to get the “air bubbles out”.

My first real sense that something was wrong came around 7 months after 3 or 4 mommy/baby yoga classes, where I noticed that the other children were turning over, crawling and moving about in a way Halcyon never did. We always thought she was a super chill baby just hanging out in her crib though she never slept. It was helpful with another 2-1/2 year old child running around but I realized, after the fact, not what a typical child does. She had started sitting up on her own, if we put her upright, around 6 months though she frequently fell back so we always positioned her with a pillow behind her so it was hard to tell that she was not hitting her ‘milestones’.

Fortunately, due to the fact that she had still not passed her hearing screening, she had been referred for further auditory screening. Because of Covid the facility we were recommended to was closed and we were further referred to an agency that did several evaluations (occupational, speech and physical therapy) and got us on track for Early Intervention (EI). At the time of her evaluations she could not track a rattle being shaken from left to right in front of her face, she could not sit up, or roll over.

I cannot say how grateful I am for the twist of fate that brought us to EI. I attribute her abilities today to the phenomenal therapists that worked with Halcyon, either in person, or remotely, from 10 months on. It was our physical therapist who tirelessly tried to get us a diagnosis, because as the neurologist we saw said – and we were limited by the providers we could see at the time because of Covid – “no diagnosis, no prognosis”. (Not helpful.)

From that 2nd night on Halcyon’s GI had always been a problem. She would have crying fits that went way beyond the “witching hour”.

At our first gastroenterologist appointment we were told she had hypotonia and there was nothing that could be done about it. While this was technically true, a more creative GI doctor could have done something and this dismissal did little to alleviate Halcyon’s intense pain and distress.

That said, our PT found out about something called abdominal seizures that gave the neurologist the justification he needed for insurance to do an EEG. At our first EEG Halcyon was hooked up to 26 electrodes on her head. After an hour, I got a call from the doctor and he asked if she was having seizures. I said no, and he said she was having epileptiform activity every 30-60 seconds lasting 10 seconds. I was devastated. I felt like the worst mother in the world. How could I have not seen this? Who knew how long these had been happening, since birth? Could this be the cause of her lack of abilities? In fact, there was no way I could have known what was happening in her brain. We left the hospital with our first prescription for seizure medication.

This was a month before her 2nd birthday. A few days before her second birthday, we received the results from a skin biopsy done as part of a study on pigmentary mosaicism that we were involved in; again thanks to our PT.

This is where we got Halcyon’s diagnosis of TFE3. There were around 25 recorded cases and they told us she would never walk or talk. They gave us a copy of 1 of the 2 papers that had been done on the condition (we didn’t know there was a 2nd) and that was it. It was like we had received a death sentence and our lives changed forever.

We found no other information on TFE3 on the internet. I contacted the author of the paper and asked to be connected with other families that had the diagnosis. I was put in touch with one other family in California that had also recently been diagnosed. Thanks to my husband’s brother we met another family that lived in France that had TFE3 and those kind people met with us over zoom – where I brushed off my high school French and tried to talk about a topic that those 4 years had in no way prepared me for. They connected us to others and through that small community I’ve met nearly a dozen new families with new diagnosis, and we’ve begun to build a worldwide community to support each other and work to get help for our children.