What to know
- A Vaughan mother is searching for answers after her nearly four-year-old son developed balance, mobility and speech issues linked to an extremely rare and previously undocumented genetic variant.
- After extensive testing and research, a U.S. geneticist confirmed Lucas is one of only two known children in the world with the RBM28-related condition, leaving doctors uncertain about how the disease will progress.
- Facing an estimated $1.7 million CAD cost to develop gene therapy, Lucas’ family has launched a GoFundMe that has already raised over $230,000 to urgently fund research and treatment.
A mother in Vaughan is looking for answers for a genetic condition affecting her three-year-old son, Lucas’s ability to balance, walk and speak.
Sophia Azevedo told Now Toronto she first began noticing issues with her son’s mobility when he was just one.
“I thought he would have been walking by one, because he met all of his milestones early,” she said. “He wasn’t delayed in anything else and he was babbling, and he was doing all the things that he was supposed to do but after one years old, when his walking wasn’t progressing, that’s when I would say that I noticed some red flags about it, especially because if he did ever try to walk, he was always falling down and it was more of a balance issue than an inability to actually walk.”
Now, at almost four-years-old, the condition has also contributed to a speech impediment and it’s also affected Lucas’ fine motor skills. He needs assistance when it comes to eating, as well as trying to get from place to place by walking, including going up and down stairs, in and out of a vehicle and on and off the toilet. Azevedo says Lucas is only able to crawl from place to place on his own.
While Lucas is yet to be formally diagnosed, Azevedo says she has gotten him tested by a geneticist.
“The genetic variant that [Lucas] has that’s causing some disease for him is not noted anywhere in medical literature,” she said, adding that factor makes it difficult for the family to know what his future has in store.
Through extra research and testing, Azevedo got in touch with another geneticist at the Undiagnosed Diseases Network in the United States who told her Lucas wasn’t the only child dealing with the condition.
“That’s how we discovered that there’s one other child in the world with this variant that is causing this disease,” Azevedo said. “[The geneticist] did an interview with Lucas and connected that these two children have the exact same thing.”
Why research matters
Azevedo says that because this disease is so rare, there is a lack of research behind the condition and how it progresses.
“[We] don’t have a name for the disease, and we just don’t know any information into the future about how this disease is going to progress,” she explained. “So, at this point, we’re kind of just on wait lists to get into SickKids, to try to get some doctors to look at him there and see if they are interested in doing any research about the gene and the progression and the disease in general… And then we are dealing with the U.S. to get gene therapy going.”
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With the progression of the disease, the urgency of research is up in the air, but Azevedo says she isn’t taking any chances.
“It seems that typically, with neuromuscular diseases or syndromes that are apparent in infancy or toddlerhood, they’re considered the most severe of those diseases,” she said. “So, the earlier that the symptoms appear, the more severe that disease is [according to research], and the faster the progression will be. I don’t know if that’s the case for this disease, but that’s kind of like a telltale sign of how serious it can be. So, it’s very urgent. I feel like every day matters.”
Anthony Domenichello, a neurologist and Lucas’ uncle, agreed with Azevedo and told Now Toronto it’s not clear what could happen to Lucas as time progresses without therapy.
“It can have a broad spectrum of what it could mean based on Lucas in particular, the variant that he has appears to be affecting the formation of the ribosome, which is the structure in our cells that makes proteins from your genes,” said Domenichello. “What that probably is meaning for him is, while his brain is developing and as it’s continuing to develop, his nerves are unable to get the resources that he needs to properly, grow, develop and function.”
Domenichello added for other people dealing with mutations in similar genes, their development has a variety of changes.
“Lucas seems to have one that’s mostly neurological, but in others, they’ve had alopecia, which is hair loss, teeth loss, things like that,” he said. “Some of these people were in their 30s and 40s and weren’t developing, [they] hadn’t gone to puberty yet. They ended up with short stature, smaller heads, things like that. So, it’s really hard to tell exactly what it’s going to mean for Lucas, because the presentation has been very variable.”
Domenichello said he has access to a research paper search engine called PubMed. When Lucas’ gene variant – RBM 28 – was searched, only a handful of results came up, whereas the average gene variant search typically yields more than 10,000.
Azevedo says gene therapy also takes some time to develop.
“It takes approximately three to five years to develop and be able to administer… It’s basically a race for us to try to get it as soon as possible.”
Raising money for gene therapy
Azevedo, alongside Lucas’ father Victor, have started a GoFundMe to raise money for research and development of the gene therapy for the gene RBM 28, at the UMass Chan Medical School in Worcester, Massachusetts.
“The total cost that we were estimated at, and I think that this is on a low end, was 1.2 million US, which is approximately 1.7 million Canadian,” Azevedo said. “And that’s over around a three to five year time frame, depending on how fast each phase goes or how successful each phase is.”
The multi-phase research will include a proof of concept, submission of approval to test in a larger animal, toxicology studies, and finally administering it in humans.
Azevedo said she hopes Lucas will be one of the first humans the therapy is administered to.
“I guess if we’re the guinea pigs, we’re the guinea pigs for it,” she said. “At least for us, it gives us some hope, because it’s not a disease where, because it’s not researched right now, it’s not like ‘okay, your child’s only gonna live till five,’ so we don’t have to have that in our heads, holding us back from from getting success for Lucas and allowing him to have normal childhood or adulthood.”
Of the $1.7 million goal, the GoFundMe has raised above $245,000 by time of publication, since the fundraiser began on Jan. 28.
This was way more than Azevedo says she even anticipated.
“I don’t think I was expecting to receive that much on the GoFundMe initially. I know that there’s going to be a lot of fundraising efforts that we’re going to have to do, and lots and lots of events that we’re planning to do with the community and with our friends and family and anybody else who wants to follow along with Lucas and support Lucas. So, I’m glad that there is so much support, and that everybody sees how hard Lucas is working.”
Azevedo says she hopes to at least raise the initial $330,000 so Lucas’ family can get the research going, for at least a year before the next payment is due.
