Orah's Story: Refusing To Give Up with a USP7 Related Disease
“I didn’t stop looking for a solution. Not even after the neurologist advised me to stop pursuing treatments.”
My son Jacob seemed okay when he was born in September 2017, with minor feeding issues that went away. But as the months went on, some things began to disturb me.
Jacob seemed “floppy” and unable to put any weight on his feet when we tried to help him stand. Since I have a background in speech therapy, I also noticed Jake wasn’t babbling like babies should at that age.
When Jacob was around 9 months old, I went to the pediatrician and said to her, “Something’s not right.” He had too many things wrong with him for this to be just delayed speech. It didn’t make sense.
The pediatrician did not seem alarmed, but I persisted. Finally he advised me to see a geneticist.
Because Jake had certain physical features, such as small genitalia and a high, wide forehead, the geneticist began testing for rare genetic disorders like Prader-Willi syndrome and Klinefelter’s syndrome. They also did tests for other signs of genetic disorders like chromosomal duplications and deletions.
“I was told, ‘I don’t think we’ll find out what’s wrong, so go live your life and enjoy him.’”
If this was your child, would you accept that as an answer? If you knew in your gut something was wrong?
I realized then how much of an advocate you have to be for your child. A lot of doctors give up, and if you don’t do your own research and go with your gut, you’re left without answers. So I decided to do something. I did some online research, and I was able to convince the geneticist to send a blood sample off for Jacob’s exome to be sequenced. The exome, the protein-encoding portion of the genome, holds the information behind 85% of single-gene diseases.
Orah and Jacob
Jacob had his exome test sent off when he was 15 months old, along with samples from his parents, to see if any mutations he had were inherited or had originated in him. Getting results took four months, and I had to call weekly for updates. Finally, the test results revealed an answer.
When I finally got the results, I was told it was worse than expected. But that was it. No real explanation. So I searched and found Olaf Bodamer at Boston Children’s Hospital, who translated the report.
It turns out Jacob’s mutation was only in him—neither I nor my husband had it. It was dominant, meaning that only one copy of the gene was mutant. This may turn out to be crucial information for developing a treatment. And it also meant that future pregnancies shouldn’t be at risk.
Jacob’s mutation is in a gene called USP7. USP7 mutated in the egg or sperm that, with its partner, went on to become Jacob. Jacob’s ultra-rare splice-site mutation is part of one of the pairs of his sixteenth largest chromosome.
“A lot of doctors give up and if you don’t do your own research, you’re left with no answers ”
Jacob has a condition that doesn’t yet have a catchy name: USP7-related-diseases (see Tess’s Tale: Social Media Catalyzes Rare Disease Diagnosis). A quarter of children with this condition never speak, and most have developmental delays, intellectual disabilities, and abnormal brain MRI findings. Other symptoms are the low muscle tone and small genitals that first alerted us as Jacob’s parents, and autism spectrum disorder, feeding difficulties, reflux, seizures, abnormal gait, low weight, and short stature.
After the diagnosis we gave ourselves a few days to cry, then we went into action.
I found Bo Bigelow online, the dad from the Tess’s Tale, who turned to social media to find other children with USP7. I found researchers who are working with the USP7 gene mutation, and I have been organizing fundraisers to fund more research. I spoke to a researcher at St. Jude’s working on a mouse model of USP7 conditions; and contacted pharmaceutical companies working on rare diseases, all of which said USP7 wasn’t in their pipeline.
I’ve had good news and bad news from researchers, but we’ve chosen to focus on the optimistic. We appreciated an email from one researcher who delivered some bad news, but added that his discovery just meant they’d have to find another way.
I post regularly on Facebook and Instagram, and I am happy with every moment and every accomplishment with Jake. I keep pushing and searching, and I won’t give up. Even though we are facing a lot of unknowns, we keep learning more, and hopefully we’ll find something that will make a difference.
Written By
Orah Lasko
Mother of Jake, USP7
