Lucy’s Story
Lucy was born in 2011 via a planned c-section at 39 weeks after an unremarkable pregnancy. She was her mom’s third child at 39 years of age.
When viewed in retrospect we can see that it was likely the hypotonia that kept her from crying in the delivery room, which worried the doctors and nurses that were vigorously tousling her and becoming more and more alarmed. They would come over to us and tell us she was breathing, pink, had good APGAR scores, she just wouldn’t cry! Finally, she let out a little “waa” and everybody relaxed. There was some difficulty with her latch initially, and we were eventually bringing her in for weight checks every other day. After a month and her not getting back to her birth weight they hit her with the Failure To Thrive label, and put her on high calorie intake (heavy whipping cream).
The cream set nicely and she began to gain weight. We thought all was well. As the weeks became months, it was clear that she was not responsive to faces, likely had some sort of eye tracking issues, and was not displaying any sort of social smile.
This lead to our first visit to the Children’s Hospital for an ophthalmology appointment. The evaluation, which was at seven months determined that she could see, with good clarity, and that the ocular nerve connections were functioning normally, but that she did have exotropic strabismus. The ophthalmologist recommended an MRI as a matter of course in preparation for the planned corrective surgery. The MRI (at 8 mo) added some mystery when it revealed delayed myelination in the brain, and a smallish frontal lobe. Combined with the now clear hypotonia, missed developmental milestones, and head size tracking lower at each measurement we were wondering what at fault.
We started down the path of services with weekly in home PT and OT. Progress was incremental throughout her second year, with thankfully little sickness or health issues. The eye muscle corrective surgery was scheduled for just before her second birthday. What a difference! The surgery was a rounding success, and it was as if her world had opened up. Within days she began to pull up to stand, she was obviously tracking movement, and meeting your gaze. She had a second MRI on the day of the surgery which showed that the myelin appeared to have caught up to about what could be considered normal.
Things were looking up and we were referred to the Neurodevelopmental clinic for further evaluation, and designation of developmental delay. From there we were referred to the Genetics clinic where the mystery seemed to deepen. The metabolic tests she had previously had all returned normal. The first genetic test (SNP Array) came back normal. Next she was tested for Fragile X and Prader Willi, results normal. The next test (Pallister-Killian) required a skin biopsy due to the condition’s potentially mosaic nature, and was apparently the best shot the Genetics clinic had, because when the results came back normal we were left with no other suggestions. I set in on my own sleuthing at that point, eventually coming across a news story of a mother that had gained a diagnosis for her son by dogged self advocacy demanding that doctors use the most in-depth tests the could use, and revealing Pitt-Hopkins in her son via Whole Exome Sequencing. The symptoms described in her son had me checking off similarities with those of my daughter, coming in at 8 out of 10 similarities, I called our geneticist and told her I thought Lucy might have Pitt-Hopkins, and I wanted WES testing. The doctor agreed with me that the symptoms were very similar and warranted testing for Pitt-Hopkins via a multi-valent targeted test panel called The Rett-Angelman And Associated Disorders Panel. The reasoning for not going with WES right away was prudence in searching for something in particular, rather than anything in general, and that the test needed board approval. As a board member she felt eliminating the six additional suspects would go a long way toward securing the board’s approval for the WES test. Well, it wasn’t Pitt, Rett, or any of the others, so then we got approved, submitted our samples, and just before her 4th (Nov 2015) birthday and just as she was learning to walk independently, we received our diagnosis of POGZ gene disorder.
Since then she has been given a diagnosis of ASD, and receives services through an IEP at the elementary school where she has attended Pre-K in an inclusive classroom. We are setting up for her to transition to all day Kindergarten starting in the fall, yikes!
Overall Lucy is what could be considered severely affected. Non-verbal and still unsteady on her feet, she is remarkably easy-going, although she does have episodes where she takes out her frustration by biting herself. She is really a healthy and sturdy girl that loves to climb and swing, and has mostly outgrown the hypotonia. She’s our little light, and oh how she shines.
