Parents find the cause for their son’s speech delays with a genetic test

Five-year-old Rohan speaks in words only a few loved ones understand. For example, milk, me, and music in Rohan’s speech all come out as the same sound “me”. He’s a happy sweet kid who’s eager to interact with those around him and the inability to communicate stifles his potential. He never stops trying to form the words mothers everywhere long to hear. Hours of therapy are made better with his favorite song from the PBS Kids TV series “Daniel Tiger’s Neighborhood.”

“Keep trying, you’ll get better.” the song goes. “Try, try, try, try, try it again.”

And he does.

He tries to speak. Again and again. Rohan can communicate his needs in short utterances but rarely can all the words be understood clearly. His speech delays were only explained after a genetic test.

Genetic diagnosis brings hope

Rohan has difficulty speaking because he has a cerebral creatine deficiency syndrome known as creatine transporter deficiency, or CTD. In people with CTD, the body's cells do not receive enough creatine, an essential amino acid needed to sustain the energy levels required for proper muscle and brain development.

CTD is one of three cerebral creatine deficiency syndromes, which include guanidinoacetate methyltransferase deficiency (GAMT) and arginine:glycine amidinotransferase (AGAT) deficiency.

It took a long time to discover Rohan’s CTD. That’s because creatine deficiency symptoms don’t have a big revealing sign. The biggest consistent symptom for children with all three creatine deficiencies are speech delays but that rarely leads doctors to order genetic testing. And Rohan’s parents think that should change: genetic tests should be performed to kids with speech delays to rule out much larger issues. However, the lack of widely available genetic testing leaves many parents grasping for answers that never come. By two, Rohan was diagnosed with speech and global developmental delays and doctors mentioned other potential causes. Maybe it’s autism. Maybe it’s cerebral palsy.

Rohan’s parents, Laura and Amar, found an answer when they requested whole exome screening (WES), an in-depth type of genetic testing that looks at multiple genes including SLC6A8, the gene responsible for the creatine transporter.

“We’d seen countless doctors who told us they can’t find anything wrong and, at our insistence, sent us to another doctor,” Laura Trutoiu said. “After much pleading with doctors, we eventually got access to genetic testing, which gave us a diagnosis when Rohan was almost three.”

Trutoiu considers her family one of the lucky few.  Many other families never get to a genetic test. But, after years of dead-end diagnoses, she and her husband, Amar, received an accurate one for their son. They’re also lucky because their son does speak in his own way. Some children with CTD don’t speak at all, some use signs or assistive technologies, and some, like Rohan, are partially verbal but not easily understood in their speech and utterances.

“Though Rohan’s Creatine Transporter Deficiency doesn’t have a treatment, a diagnosis gave us hope to at least know what we’re dealing with,” she said.

Now, Trutoiu works to help other parents as the director of research for the Association for Creatine Deficiencies, or ACD. She joins a team of parents who come together to fund research and to advocate for awareness about cerebral creatine deficiency syndromes. 

“I want parents out there to hear me that children with speech delays should get genetic testing,” she said. “A diagnosis might not outright solve the problems, but it will give you that extra bit of understanding where you may be able to distinguish one symptom from another.”

Big goals

Understanding the underlying cause of Rohan’s speech delays helped his family hone in on the unique challenges he experiences.

The CTD diagnosis made life easier because it meant targeted therapies for Rohan, including speech therapy focusing on muscles and cognitive skills. An augmentative and alternative communication device — often called an AAC device — enables Rohan to communicate in different ways.

Rohan spent his early years with many speech therapists. “We’d built into his toddler routine multiple speech therapy sessions per week,” Trutoiu said, “all with the goal of getting the world to hear him speak.”

‘I hate you; I hear you’

Making progress in speech is not easy and for the rest of the world Rohan is functionally non-verbal. That means that others cannot understand his words and even well trained teachers and speech therapists have a tough time understanding him. Last summer, Rohan’s most recent speech therapist thought she heard Rohan say “I hate you.”

The first response from Rohan’s parents was shock: “Our sweet, loving kid (saying), ‘I hate you’?”

“It lasted a fraction of a second,” Trutoiu continued, “and then it hit me that the real danger is that Rohan may never be able to say, ‘I hate you’ — or any mean words. Not because he’s polite and well behaved, but because his speech is so hard to understand by others and because his cognitive skills may lack for him to understand such ‘bad language.’”

That night, she and her husband “eventually had a great, bitter laugh and joked, ‘We better keep doing what we’re doing in these therapy sessions if, all of a sudden, Rohan is spontaneously using three-word sentences with a verb and a feeling.’”

After this incident, Rohan’s family pressed the therapist to explain in detail the context in which their son had spoken.

“The kicker is that what Rohan was actually saying was a deeply symbolic ‘I hear you,’” Trutoiu said. “The new therapist used that phrase when Rohan was asking for ‘mama’ but they were not done with (the session). She’d say: ‘You want your mama. I hear you.’”

“I hear you!”

Trutoiu could understand those three big words.

“I, too, want to truly say to Rohan, ‘I hear you.’ I want the world to hear him,” she said. “I know there are many parents out there dreaming of their children saying ‘mama’ or ‘I love you’ or ‘I hear you.’ We’re among the lucky ones, because I get to understand my kiddo say many things nowadays even though most of the world can’t.”

But Trutoiu knows well that those moments come with a price. Perseverance and pain are met with a mix of sadness, relief and joy for parents of children with CTD and the other two cerebral creatine deficiency syndromes. More research is needed to discover a treatment for CTD. Luckily the other two creatine deficiencies are treatable and if caught early children can make a full recovery which is why the ACD advocates for newborn screening for the conditions.

Both for research and newborn screening the ACD keeps trying, as Rohan and Daniel Tiger would advise. For Rohan, a hard-fought battle for an accurate diagnosis means targeted therapies. It also means a better chance for mothers everywhere to hear all of those three big little words:

"I hear you."                                                                                                                        "I love you."                                                                                                                        "I need you."                                                                                                                    "You're my mama."                                                                                                     "Forever and always."                                                                                                         

The Association for Creatine Deficiencies’ mission is to eliminate the challenges of cerebral creatine deficiency syndromes. ACD is committed to providing patient, family and public education to advocate for early intervention through newborn screening and to promote and fund medical research for treatments and cures for cerebral creatine deficiency syndromes. For more information regarding ACD, visit creatineinfo.org or reach out to info@creatineinfo.org if you suspect a loved one may have a creatine deficiency syndrome.