When you read this question what comes to mind? Is it the scarecrow from the movie, The Wizard of Oz, who wants a brain? Then, once conferred with his degree in Thinkology by the great and powerful Wizard of Oz, the scarecrow immediately recites the Pythagorean Theorem (which he got wrong by the way). Or is it like in the movie Young Frankenstein in which the monster is suddenly sedate and calmly reading the Wall Street Journal?

This bit of media imagination comes to mind when I recall a family who once told me that they would not want to find a “cure” for 18q- because they would not want to change their son. They loved him as he was. And I totally understand that. But of course, this was a young child, so any delays he might have are just that; delays. These parents reasonably expect to watch their child grow and develop, just at different rate from his peers. All children are on a trajectory of growth and hope. Children also live within the fold of the family with basic needs assured and major decisions made for them. So at some level a child with 18q- is no different than a typical child with regard to family support. However, I have a feeling that when this child with 18q- becomes a young adult, his parents might just have a list of a few things they wished their adult child could do better. Likely, they would want him to be able to navigate the world more independently and not have to rely on being in the fold of the family forever. These hopes are even more likely when his parents are older and fear a time when they will no longer be able to care for their adult child and worry about who will take over for them.

The comment from the parents of a child with 18q- also seemed somewhat incongruent to me in light of the fact that this family and others obviously want what is best for their child – that’s why they join groups like the Chromosome 18 Registry. They attend conferences, gather information from medical professionals and from other parents. They make sure their child gets things like glasses or hearing aids when he needs them. They make sure they receive medications for aspects of the chromosome 18 condition like seizure medication, growth hormone or thyroid hormone; just to name a few. Their actions demonstrate that they do, in fact, want to do everything they can to better his life and in effect, counteract the effects of 18q-. They are, in effect, working to implement a functional cure for 18q-.

But what is it about the search for treatments for the as yet untreatable aspects of the chromosome 18 conditions that makes them somehow scary to families? What makes parents feel like these future treatments may seem as if are not being accepting of their child while other currently available treatments seem supportive and necessary? It might be the pushback on the word “cure.”

Cure is defined as, “to restore to health, soundness, or normality.” In the world of disability rights, individuals with disabilities are raising questions about why their disability needs a cure. This has been true in the Deaf/Hard of Hearing community for many years as some D/HH individuals and families ask why hearing is so important. The Oscar-winner for Best Picture, CODA, tells some of this story. Author and Autistic man Eric Garcia writes in his book, We’re Not Broken: Changing the Autism Conversation, “Society should stop trying to cure autistic people and instead help autistic people live fulfilling lives.” If a “cure” means a massive change, a breakthrough in chromosome 18 research could feel wrong to many families. But that’s not the approach we’re looking for in potential treatments.

The treatments of the future that we are talking about are largely aimed at improving independence. We hope to be able to improve the cognitive and behavioral challenges of the people with the chromosome 18 conditions. Such treatments would not make the chromosome 18 condition suddenly just go away. Rather, they would make the effects of having the condition more manageable. For example, in a young adult, a treatment for their dysmyelination would improve their reaction times, which could allow them to learn to safely drive a car. A treatment aimed at correcting the specific chromosome 18 cause of cognitive deficits may help them begin to learn better daily living skills such as being able to read or be responsible for their own finances. Just like any conventional therapy, these changes won’t happen overnight once a treatment begins. As a comparison, if a child with growth hormone deficiency that is very short starts taking growth hormone, they don’t wake up on day two of therapy and suddenly find themselves to be normal height. This is a correction that takes time as the body catches up. If a therapy is devised that would help learning and memory or could improve social skills, then new information and skills would still have to be taught; which again, takes time. It is not going to be like in The Wizard of Oz or in Young Frankenstein – there won’t be instant changes.

A new improvement in abilities could present a new challenge for families - the adult with one of the chromosome 18 conditions will need a new educational or skills program to maximize their new learning potential. However, the advent of extensive on-line educational programing should make this an attainable task. For school-age children, it would require attentive monitoring and potential changes in education plan goals.

None of these treatments would fundamentally change who the person is - they would still be the extravert or introvert they always were. They would still have the same interests; be they superheroes and action movies, or the latest fashions. They would still be irritated by their siblings. They would still be the same person. The difference would be that once these aspects of the chromosome 18 condition are treatable, they could be someone who is able to learn to navigate the world more independently. Making the chromosome 18 conditions completely treatable would not change who our loved ones are, but would instead allow them to take mastery of their lives and become the best version of their independent selves. Hopefully, they would not need to forever live in the fold of their family.

I know such treatments sound far-fetched. And at some level they are because they don’t currently exist. But science is about making the impossible possible. The tools to develop the specific therapies already exist. We need to see that these tools are used to generate the new knowledge needed specifically for the chromosome 18 conditions. This is our hope and our expectation, which will become a reality one day, but only if we make it happen.