Yukoners are once again out in full force helping a local family in need.

Three-year-old Gavin Rough’s parents are hoping to get to Toronto in July for a three-day conference that will connect them with researchers and the few other families dealing with Naicolaides Baratister Syndrome (NCBRS).

Only 44 people around the globe have been diagnosed with the rare syndrome.

A gofundme campaign has raised $2,433 so far. While that continues, another event is set for 7 p.m. Thursday at the Jarvis Street Saloon.

Along with accepting donations at the door, there will be a silent auction, appies, a performance by Speed Control and an open mic session.

As the family describes it, when Gavin was born, “everything seemed normal with him.”

It was when he was about six months old, they began noticing little things, like he wasn’t babbling, crawling or attempting to stand, as other infants at that age often do.

“At first, we thought he was just taking his time, but when he was seven months old and he still wasn’t doing what other children his age should be doing, we started to get concerned,” they noted.

At that point, they approached their doctor to be referred to a pediatrician.

After about a year, Gavin was referred to a geneticist to see if there was any genetic link to his delayed development.

There still didn’t seem to be an answer.

The family was asked if the data that had been collected could be put out to the general medical community to see if any other doctors had seen or heard of anything similar.

“Within a couple of weeks, we were informed that another doctor believed he had NCBRS and wanted to get some more blood so that he could run a genetic sequence to verify it,” the family said.

Describing the wait for an answer as the “longest few months of our lives” for the family, the test results confirmed Gavin has the rare syndrome.

“A sense of relief and closure came over us because we finally had an answer, but also a sense of, ‘OK, now what do we do from here?’” they said.

At that time, Gavin was only the 24th person in the world to be diagnosed.

Few details are known about NCBRS outside of common characteristics those with it have.

Those include long fingers and toes, enlarged joints, sparse hair on the body, reduced height and weight, limited or non-existent speech, reduced mental capacities and delayed development and seizures.

Gavin also seems to have a reduced sensitivity to pain that the family has not heard about in other NCBRS patients.

Also in Gavin’s case, seizures are sporadic, as the little boy will sometimes suffer from multiple seizures in a week and other times go a number of weeks having none.

“Most time Gavin’s seizures are absent seizures,” the family said. “Absent seizures are (easily) described as zoning out for anywhere from a few seconds to a minute, then snapping back to reality and not knowing where you are or how you got there.

“It’s very confusing, so he tends to get upset after recovering.”

For the family, which also includes Gavin’s four siblings, day-to-day life is “a little tougher, as we require our days to be thought out further in advance and any slight delay or change in detail could scrap the rest of the day’s activities entirely.”

Extra time is needed for things like getting Gavin dressed and packing a diaper bag, as he isn’t potty trained, and it will likely be “quite some time” before he can be.

The family also doesn’t go shopping for any length of time with Gavin unless both parents are there, as one must ensure Gavin doesn’t jump out of the shopping cart or wander off.

“If he is curious about something, we don’t want to stop him from learning, so shopping with an individual parent is time-consuming,” the family said.

Given his sensitivity to texture, another commonality among those with NCBRS, finding food Gavin will eat and is nutritionally valuable can be challenging.

The family also has to be sure about where Gavin is at all times, making sure that he isn’t climbing something he could fall from or putting something in his mouth that he could choke on. (The family works hard to ensure all choking hazards are out of his reach.)

“Because he is a ‘runner,’ someone always has to be with him (20 feet or less) at all times when outside playing in the yard or park, or else he will wander off wherever his little feet take him, so there is a constant heightened need to be aware of where and what he is up to at all times even while he is sleeping,” they said.

All of that means normal household chores and tasks – cleaning, cooking, repairs and so on – take much more time to get done.

Calls from daycare – even to tell the parents some good news such as Gavin saying “Mommy” or “Daddy” – initially can make his parents’ hearts sink as they’re “always under the fear that something bad has happened to him.”

Because NCBRS is so rare – with only four people in Canada to be diagnosed with it – it’s hard for the family to know what’s normal and what’s not for him.

“There aren’t any doctors that are aware of or able to give us any answers to any questions that we may have,” the family said.

While the family are members of NCBRS pages on Facebook, with limited information to pass on and differing time zones for members, it can take days or weeks to get responses to questions or concerns.

The conference would allow them to learn about the latest research and have questions answered by a geneticist who’s been doing research on it.

“It will also be a great opportunity for us to meet the other parents and their children who have NCBRS and finally have that connection knowing that we are not alone, that we have other people who know what we are going through and the frustrations that we must all be experiencing; to get that human connection, to share stories, tips and tricks and meet the other beautiful children like Gavin.”

Donations can be made to the gofundme campaign at http://www.gofundme.com/p9n590 and email transactions are also welcome at jrough001@gmail.com in addition to Thursday’s fundraiser at the Jarvis Street Saloon.