Journey to Diagnosis

This is the story of our son’s diagnosis of CTD (creatine transporter deficiency). It has been a long journey to say the least and now this diagnosis has taken us on a new path.

Our son Francesco (Franco for short) was born March 14, 2008. When he was born, he was perfectly healthy and he met all the milestones for sitting up, crawling, and walking; however, this all suddenly came to a halt when he was 17 months old.

We will never forget that day. It was Sunday, August 16, 2009, and he just seemed a little under the weather from the moment he woke up. He didn’t eat breakfast and was very lethargic and even took an early nap. After he awoke from his nap, we brought him downstairs to the living room and minutes later he was having a grand mal seizure. My husband and I had never witnessed anything like this before and immediately called 911. Franco was beginning to turn blue and by the time the paramedics arrived he had come out of it. He was taken by ambulance to the children’s hospital where they ran the basic tests. The only conclusion they came to at that time was that it was febrile, even though he did not have a fever, and they ended up sending him home.

Early the next morning, when we checked on him, he was having another seizure and we rushed him back to the hospital. They admitted him this time and started performing tests. They first performed a CT scan and then an MRI and were unable to find anything wrong. Then they gave him a spinal tap and with that found he had slightly elevated white blood count (not drastically high, but high enough that he may have been fighting some sort of infection). It was then that they diagnosed him with viral encephalitis and started him on antibiotics.

It was at this point that he was at his worst. He was unable to move, speak, eat or do anything. He was lifeless and our world was shattered. He had seizure after seizure and the doctors had a hard time getting them under control. The doctors were unable to tell us if he would ever walk or talk again. But Franco surprised us and after a few days he started perking up and was feeling a little better. After this initial hospital stay Franco was in and out of the hospital continuing to get test after test including CT scans, MRI’s, EEG’s, and blood work. He met with multiple specialists including a team of neurologists, infectious disease doctors, and a genetic doctor. They were unable to come to any solid conclusion and still diagnosed him with viral encephalitis, which we were also told caused him to have a seizure disorder and an acquired brain injury which causes him to have speech issues, cognitive issues, and an intellectual disability.

The next seven years he still struggled with what we believed were the after effects of viral encephalitis including seizures, speech and cognitive issues, and an intellectual disability. He also portrayed autistic mannerisms, but he is not autistic as we were told many times by various specialists and therapists. Throughout the past seven years he was prescribed numerous seizure medications to help control his seizures. It was all trial and error.

In the beginning of 2016, the seizures increased. After visiting his neurologist we were told we needed to increase his meds even more. It was then that we decided to get a second opinion because we could not continue to increase medication for our son because it caused him such terrible side effects. We decided to meet with a neurologist at Miami Children’s Hospital and our initial visit was in March 2016. In August of 2016 Franco was hospitalized in Miami so they could run their own tests from scratch including a week-long video EEG and CT scan. He was taken off all his seizure meds so they could start testing him and right away he started to have seizure after seizure. They were able to get enough data to end the testing early. They wanted to see if he was a candidate for surgery, but the tests were inconclusive.

The doctor was in the midst of a clinical trial and offered Franco to become a participant to see if it would benefit him. He started in August 2016. Once he started the investigational treatment, we slowly started weaning him off other medications and immediately noticed improvement. He had started to speak more, had become focused and self-aware, started looking us in the eyes, and looked all around healthier and didn’t appear to be dazed.

His neurologist then requested that we go ahead and get a genetic test in case there was something he was missing and to gather information that would be helpful to treat his seizures. My son, my husband, and I all did the bloodwork and at our visit to Miami on February 24, 2017 we were told the news that shocked us. We were told he has a genetic mutation with the SLC6A8 gene which is a creatine transporter deficiency.

We were completely overwhelmed by this news. We have never heard anything about this disorder before. We started researching right away and were surprised to see how much he portrays the symptoms of CTD. His neurologist recommended the Association for Creatine Deficiencies (ACD, for additional information and to reach out to other parents, which was extremely helpful.

Daily Progress

Fast forward to 2019 and our son is completely off all other seizure medications, except for the treatment he received through a clinical trial (this treatment is now FDA Approved). Our son sees a genetic doctor as well and he prescribes him with a supplement, which is used to help transport energy production within his cells.

In 2018, we attended the first ever symposium for CCDS that brought together members of the scientific, medical, and research communities along with families from all over the world who also had children with a CCDS Syndrome. The ACD has been monumental to me since I found out about Franco’s diagnosis. The ACD advocates, educates, and promotes research for patients and families coping with the effects of CCDS.

Franco is eleven years old now and continues to have speech issues, an intellectual disability, learning difficulties, autistic mannerisms, and worst of all seizures (even though the number of them has reduced). Even through Franco has all these issues, he is a typical eleven year old little boy. He loves to play outside and tease his sister. He loves music, bubbles, playing ball, riding his bike, cartoons, and playing on his iPad. He is full of life and loves to be silly. He attends a special needs (ungraded) Catholic school. He is on a modified curriculum and they work with him up to his potential. We continue to see progress, which makes us so incredibly happy. We don’t know where this new path is going to take us, but we will be with him every step of the way. I continue to pray for a treatment because at this point, I do not know what the future holds for him and we are unsure if Franco will be able to live independently. At this point we do not see him being able to live alone so we are planning our future and his future around this. We do continue to hope and pray for the best.

Written by Lisa, Franco’s mother


Creatine Transporter Deficiency (CTD)

What is it?

Creatine transporter deficiency is a genetic disorder resulting in the inability of the body to transport sufficient creatine, a major source of energy, to cells. Creatine is an essential metabolite for normal brain, heart, and muscle function. CTD is one of the three cerebral creatine deficiency syndromes (CCDS).

What causes it?

CTD is caused by mutations in the SLC6A8 gene. SLC6A8 is the gene that gives instructions to the body to make a protein that brings creatine to tissues and organs that need it. Without creatine, cells cannot store or use energy properly.1

What are some of the common symptoms?

  • Features similar to autism
  • Behavioral problems
  • Cognitive (brain) impairment
  • Low muscle tone
  • Motor skill delays
  • Seizures
  • Speech/language developmental delays
  • Poor growth (failure to thrive)

How many people have it?

More than 150 individuals with creatine deficiency have been identified worldwide, but the prevalence of CTD is unknown.1

Common names for CTD

  • SLC6A8 deficiency
  • Creatine transporter defect
  • X-linked creatine deficiency syndrome
Ultragenyx Opportunities to Participate

Research plays a critical part in advancing science and treatments. Volunteers who participate in this research are essential. Future therapies would not be possible without them. Participating in clinical trials, interviews, observational studies, and disease monitoring programs help to drive research, treatment development, and disease education. It is also a way to advocate for yourself and your community. To learn more about Ultragenyx research, email [email protected].

1X-linked creatine deficiency. National Institutes of Health: Genetics Home Reference website . Published May 28, 2019. Accessed June 6, 2019.

These organizations are an incomplete listing of rare disease support organizations and are not controlled by, endorsed by, or affiliated with Ultragenyx Pharmaceutical Inc. The list is meant for informational purposes only and is not intended to replace your healthcare professional’s medical advice. Ask your doctor or nurse any questions you may have about your disease or treatment plan. If you would like to have your group added to the list, please contact [email protected].