When Evelyn discovered she was pregnant with Miguel in 2016, it felt like the beginning of a beautiful chapter. As a dedicated biologist and Ph.D. candidate, her life revolved around research, precision, and the pursuit of knowledge. The pregnancy unfolded smoothly, a period of calm before the storm. But in September of that year, Miguel’s birth shattered expectations – complex, overwhelming, and riddled with complications that no prenatal test had foreseen. What followed was an agonizing odyssey through the unknown, a relentless cycle of unanswered questions, medical consultations, and sleepless nights filled with fear.

For eight long years, uncertainty gripped their lives until, at last, a breakthrough emerged. The key to the mystery lay in artificial intelligence – specifically, the Face2Gene app by FDNA, a revolutionary tool that scrutinizes facial features to help pediatricians unveil genetic conditions. It was this technology that finally gave a name to their struggle: Pitt-Hopkins Syndrome.

The diagnosis, though devastating, was also a moment of clarity – a revelation forged in the crucible of years of searching, waiting, and hoping.

A Traumatic Birth

Miguel’s birth was quick but difficult. After 40 weeks of an uncomplicated pregnancy, Evelyn’s water broke at 11 p.m., and by 3 a.m., Miguel was born via natural delivery. However, the baby did not breathe at birth. “He made a faint sound, almost inaudible, and then passed out,” Evelyn recalls. She still has a video of that moment but avoids watching it. The obstetrician cut the umbilical cord and rushed Miguel away, leaving Evelyn and her husband in a state of confusion and despair.

About half an hour later, Miguel was back in his mother’s arms, but with obvious breathing difficulties. His Apgar score – used to assess newborn vitality – was low, initially a 5, later improving to 7. He needed an oxygen helmet for several hours and returned to Evelyn’s embrace only around 9 a.m., still struggling to breathe. “He was my first child; I had no idea what was happening,” she says.

The First Warning Signs

After birth, Miguel had trouble breastfeeding, something Evelyn, as a first-time mother, did not immediately recognize as unusual. Less than 24 hours later, they were discharged, only to return the next day: Miguel had jaundice and had lost weight. During a 12-day hospital stay, he struggled to feed. “I thought it was me, that my milk wasn’t coming in,” Evelyn says, regretting the lack of guidance.

Formula feeding through a bottle became the solution, and Miguel began to gain weight. Still, at three months old, Evelyn noticed differences: while other babies were active, Miguel was sleepy and “floppy.” “I had to wake him up to feed. It was nice that he slept through the night, but something felt off,” she recalls.

A Race for Answers

At five months, Evelyn’s growing concern led her to push for a referral to a neurologist. The initial diagnosis was motor delay, and therapies such as physiotherapy, speech therapy, and occupational therapy were recommended. However, Miguel’s development remained slower than expected, and irregular head growth raised new concerns. CT and MRI scans were conducted, but they provided no answers.

At nine months, the neurologist suggested cerebral palsy, though the absence of brain lesions – common in that condition – made Evelyn skeptical. “I researched everything, talked to other mothers, and nothing seemed to match,” she says. The search continued with a second neurologist and, later, genetic testing. In 2017, just before Miguel turned one,

a whole-exome sequencing test – an expensive DNA analysis – was performed, but the results came back normal.

The Pandemic and a New Hope

The COVID-19 pandemic put the search for answers on hold, but the birth of Evelyn’s second child, when Miguel was five, reignited her determination. “I was afraid my second child would have the same issues, but she was born strong and healthy – so different from him,” she says. In 2023, she was referred to a geneticist, Dr. Bruno Jhônatan Costa Bordest, who specialized in undiagnosed children.

Dr. Costa examined Miguel and, despite previous normal test results, suggested targeted genetic testing covered by insurance. Once again, results came back inconclusive. “I kept insisting: ‘My son isn’t just autistic; there’s something else going on,’” Evelyn recalls, frustrated by the broad diagnosis of global developmental delay with autistic traits, given to facilitate access to therapies.

Discovering Pitt-Hopkins Syndrome

The breakthrough came in 2024, thanks to a friend whom Evelyn had met when Miguel was two years old. Their unexpected friendship began on a beach in southern Brazil, when an elderly woman noticed similarities between Miguel and her grandson, Guto. Years later, that same friend consulted a geneticist who used the Face2Gene app – an AI-powered tool that analyzes facial features to suggest genetic syndromes. The results pointed to Pitt-Hopkins Syndrome for Guto, which was later confirmed by exome sequencing.

Inspired by her friend’s experience, Evelyn contacted Dr. Costa again, who then also used Face2Gene to analyze Miguel’s facial features. The tool indicated a high match for Pitt-Hopkins Syndrome. With this insight, the geneticist ordered a new exome sequencing, this time focusing on the genetic region associated with that syndrome. The exome confirmed it: Miguel had a mutation in the region and was diagnosed with Pitt-Hopkins Syndrome.

Technology as an Ally in Diagnosing Rare Diseases

Miguel’s case highlights the critical role of tools like Face2Gene in diagnosing rare diseases. Pitt-Hopkins Syndrome is an extremely rare genetic condition characterized by developmental delays, motor difficulties, breathing irregularities, and distinctive facial features. The rarity of these syndromes means that most physicians rarely encounter such patients, making it challenging to retain the full spectrum of their characteristics. Without AI-driven support, the diagnosis could have been further delayed – or even missed entirely.

Face2Gene not only accelerated the diagnostic process but also provided Evelyn and her family with much-needed direction. “The diagnosis changed everything for us. Now we

know what Miguel has, we can seek specialized treatments, and we can connect with other families facing the same challenges,” says Evelyn.

The Impact of a Diagnosis on Family Life

For Evelyn, the diagnosis brought relief and clarity. “So much guilt lifted off my shoulders. I didn’t know what was happening with my son, I didn’t know who to turn to. Now, I know where I stand,” she says. The diagnosis allowed the family to pursue targeted treatments and connect with other families navigating similar journeys.

For example, a common condition in Pitt-Hopkins patients is myopia. The diagnosis prompted Evelyn to test for it. Now, with prescription glasses, his quality of life significantly improved. “He couldn’t see beyond his nose. Now, he’s making much more progress because he can finally see,” Evelyn explains.

Evelyn and Miguel’s journey underscores the importance of investing in technologies like Face2Gene to accelerate rare disease diagnoses. For families facing years of uncertainty, these tools can be the key to finding answers and accessing proper treatments. Early diagnosis also enables families to connect with support communities, share experiences, and advocate for better care.

Evelyn concludes with gratitude: “Today, our family’s reality is completely different. The diagnosis changed our lives. And I’m so grateful for the technology that helped us find our way.” Miguel’s journey is a powerful testament to how technological innovation can transform lives and bring hope to those who need it most.

The post The Importance of Face2Gene in Diagnosing Rare Diseases: Evelyn and Miguel’s Diagnostic Odyssey appeared first on FDNA™.

 The results of Alejandra Paredes’ daughter’s Photo in Face2Gene indicate the correct diagnosis of Coffin Siris. 

 “The idea of setting up a patient support organization was suggested by a doctor during a consultation for our families,” explained Alejandra. “We were approximately 10 families that day, meeting in a quiet area, and made the decision to formalize a national association. Although we came from different parts of Spain, it was clear that we shared a common cause.” The main objectives of the Spanish Coffin Siris Syndrome Association include public recognition of CSS, inclusion of it in the list of rare diseases in Spain to access benefits, financial support for therapies for low-income families, ongoing research at the Hospital San Juan de Dios in Barcelona, and psychological support through its psychology department. 

The diagnostic process for the disease is a significant challenge for families. “In our case, suspicion arose early, when my daughter was just a few months old,” shared the interviewee. “She couldn’t feed properly and had stiffness in her neck. We went through a period of uncertainty until we reached a definitive diagnosis.”   Alejandra continued, “The typical symptoms are diverse and can vary widely: From hypothermia to swallowing problems, generalized hypotonia, hypoglycaemia, and autism spectrum disorders (ASD), there is a wide range of symptoms that should alert both families and doctors”.

Adapting to the diagnosis and treatment can be overwhelming for families. “We went from thinking that we were the only ones in the world with CSS to discovering that there are many others like her,” said the founding member. “The treatment varies according to the symptoms, from physical therapies to specific medications to address individual symptoms.” 

The barriers to accessing quality care are constant for affected families. “My daughter, who is now 8 years old, has autism, which hinders her learning and cognitive development,” shared the founding member. “However, she had surprising abilities, such as writing correctly without spelling mistakes at a young age.” 

The Spanish CSS Association is a beacon of hope for affected families. Their determined work in raising awareness, providing financial support, and conducting research is changing lives and offering a path to a better future for those affected by CSS in Spain and beyond. 

About the Spanish Coffin-Siris Syndrome Association 

The Spanish Coffin Siris Syndrome Association (AESCS) was founded in 2019 by families who, like yours, have loved ones with Coffin-Siris Syndrome. Their initiative creates a space for support and answers to common needs. They seek to provide emotional support, information, and resources, being a refuge where affected families find understanding. Here, experience is transformed into shared knowledge, and collective strength is key to addressing daily challenges. 

Website: https://coffinsiris.es/  

The post Spanish Coffin Siris Syndrome Association: Fighting for Health and Recognition  appeared first on FDNA™.

ALAPA’s objectives are both clear and ambitious: to advocate for patients’ rights across all domains, foster national scientific development, assist in coordinating clinical trials for emerging treatments, engage in health and science-related political endeavours, and much more. But how do these objectives materialize into actionable initiatives?

Carolina Oliveto explains: “one of ALAPA’s most crucial lines of action involves training and empowering patient groups.” She elaborates that participatory events and workshops not only facilitate connections between the medical community and patients but also provide essential platforms for sharing experiences and knowledge. “The dissemination of information regarding diseases and treatment options is equally vital in an environment where medical lack of pertinent knowledge can pose a significant barrier to adequate care.”

Addressing barriers, patients grappling with rare conditions like Stargardt encounter multifaceted obstacles. From a lack of pertinent knowledge to the scarcity and exorbitant costs of treatments, the quality of life for these individuals can be severely compromised. “My experience with the diagnosis of Stargardt disease was challenging and emotionally draining. At the age of 12, I began experiencing significant visual difficulties, such as letter blending and reading impairment,” recalls Carolina.

For many, the journey to a definitive diagnosis is fraught with emotional and physical challenges, as exemplified by Carolina’s narrative. “However, initially, medical professionals did not take my complaints seriously and even questioned the veracity of my symptoms, believing I was exaggerating or lying about my visual capacity. It was a deeply frustrating and disorienting time for me, as I struggled to comprehend what was happening and felt misunderstood,” she shares.

Yet, for Carolina, the Stargardt diagnosis brought both relief and the harsh reality of living with an incurable condition. Nonetheless, her story is also a testament to resilience and adaptation. Through the understanding and support fostered by organizations like ALAPA, patients can discover innovative ways to surmount obstacles and forge ahead with their lives.

Ultimately, ALAPA transcends mere organizational status; it embodies a beacon of hope for those confronting formidable health challenges. Through the tireless efforts of individuals like Florencia and Carolina, patients’ voices amplify, and their path towards quality healthcare becomes clearer. Because, as ALAPA’s motto resoundingly declares, they are no longer alone.

About ALAPA

The non-profit Civil Association ALAPA aims to provide support and seek solutions for patients and families diagnosed with genetic, rare, chronic, or difficult-to-diagnose diseases, as well as disabilities, degenerative conditions, or orphaned treatments.

The post Empowering Patients: The Story of ALAPA appeared first on FDNA™.

Aline’s birth was fine. She was my second daughter, and I was very sure that, this time, I already knew everything that would happen; I already knew what the difficulties would be; what I needed to do better. The pregnancy was smooth. The delivery was normal, and she was born healthy.

Aline always met developmental milestones, although at the upper limit, but was within the expected range. She sat at seven months. She crawled at nine months. She walked at almost a year and three months. She spoke around one year. My first daughter had done everything earlier, but since Aline’s development was within the profile considered normal in the literature, I had to accept that it was my anxiety and I had to control it. But a little after 1 year, something seemed wrong. She would hold onto toys, talk about them, but didn’t seem to actually play. It seemed like she didn’t quite understand the toy.

When she began pre-school, at one year and eight months, it became clearer to me. The other children would take a toy from the basket and go look for something to do with it. Aline would turn the basket over and throw everything on the floor. And she would have fun doing that. She would take the modeling clay and chop it into little pieces, not shaping anything with it. She also wouldn’t pull her wheeled backpack, but always had a friend who wanted to pull it for her.

The first attempt at toilet training was a failure, and we ended up giving up. Once again, I struggled to accept that I had to control my anxiety. Every time I went to the pediatrician, I would think: today she will tell me what’s wrong and what I have to do. But she would tell me everything was fine; she used complex words; she was interested in toys; she interacted.

The pre-school also seemed unwilling to see the issues. Aline was a beautiful, affectionate, smiling child. No one wanted to think there was anything wrong with her. I researched all possible syndromes. Many times I would think, “Could it be this?” And then I would conclude that it wasn’t. And I would start researching another. After she turned two, it became increasingly apparent to me that her communication was not adequate. She spoke well; she used pronouns correctly. She would touch the hot ground and say “hot.” She used diminutives. But she wouldn’t follow instructions; she wouldn’t comply with requests. She wouldn’t converse at all.

Aline was very hyperactive at this time. I tried homeopathy, flower essences, and essential oils. Maybe if she calmed down, she would communicate better. Time went by, and I became more and more distressed. Until my sister, who is an ophthalmologist, said to me, “Clearly, the pediatrician isn’t able to calm you down. I think you should see a neurologist.” She gave me two names of well-known neuro-pediatricians in São Paulo, Brazil. I scheduled with the first one available, because the other had months of waiting. He assessed and said she was so hyperactive that he couldn’t conclude anything. It didn’t seem like autism, but not sure. He prescribed Risperdal to control the hyperactivity and asked us to start early intervention with 10 hours of ABA therapy per week. After three months, I didn’t see any change. But the therapists would tell me they saw progress, suggesting she would be fine. At school, the developmental distance from the other children became more and more evident, and I felt like something was very wrong that no one else was seeing.  Finally, I secured an appointment with the second neuro-pediatrician who had requested the genetic test. But for the insurance to cover this test, it had to be requested by a geneticist. So more time went by, because we still had to look for a geneticist.

Three days before her third birthday, we received the diagnosis of Rett Syndrome. I remember my husband lying on the floor of the doctor’s office, unable to breathe. And I just kept trying to find what could be wrong. Didn’t Rett Syndrome need to have microcephaly? She didn’t. So it shouldn’t be. It took some time to accept that it was indeed that.

Receiving the diagnosis of Rett Syndrome was a mix of despair and relief. On the one hand, I was relieved to find out what she had, and not just think that I was crazy. On the other hand, the prognosis was horrible: there is no treatment or cure. All we could do was invest in therapies to prevent losses and await all possible symptoms that could appear over time. The association plays a fundamental role in connecting families in the same situation. Knowing people who went through the same thing we were going through, being able to exchange experiences and ask for opinions. And learning that those people could be happy even with a child with such a terrible syndrome, that was the most important thing to me.

As a volunteer at Abre-te, my role is to write about advances in research on treatments for Rett Syndrome. And that is also a very relevant role, because when a family receives the diagnosis, being informed that there are treatments being researched and that they will be available in a few years brings much hope. Unfortunately, I didn’t have this resource at the time of diagnosis, but I am happy to be able to help other families.

There’s a beautiful text that describes the experience of having a special child called “Welcome to Holland.” In this text, the author Emily Kingsley compares this journey to a forced trip to Holland when you were planning to go to Italy. And it takes time, but you end up discovering that Holland is also a beautiful place, with beautiful tulips and Rembrandt paintings. The process of accepting and overcoming the diagnosis takes time! The sooner you start, the quicker you’ll reach the point where you can appreciate the beauties of the journey.

About ABRE-TE

The Brazilian Rett Syndrome Association – ABRE-TE aims to be a reference in promoting health, learning, and exercising citizenship for individuals with Rett Syndrome throughout the national territory, so that they can be included in society with the respect their differences deserve, providing their families with support and dissemination of social and scientific knowledge.
Learn more at https://abrete.org.br

The post In Search of Answers: Paula Gödke’s Journey to her Daugther’s Rett Syndrome Diagnosis appeared first on FDNA™.

Evie’s mother says that while microarray testing has made it easier for Williams Syndrome detection, it is dependent on a medical referral for a genetic test. “We are still hearing of children being diagnosed up to age 6 and, because there was no test available until 1996, there are likely hundreds of adults with Williams Syndrome who are still without a diagnosis”.

Since discovering that Evie had WS, the Williams Syndrome Foundation has become their lifeline.

The diagnostic odyssey started when Evie was very young and involved much struggle: “Evie was diagnosed with Williams Syndrome just before her third birthday and by then it was a relief to find out about it. We were really struggling; Evie vomited several times every day and she pretty much cried all night unless held upright. It was exhausting. We worried that we were doing something wrong, numerous health professionals had dismissed our concerns, labelling us as neurotic first-time parents.”

“At 18 months, we moved area and needed to transfer to a new physiotherapist. The GP asked if she was behind in anything else besides walking and, as she was still only babbling, he referred us to a community pediatrician. He diagnosed her with global developmental delay and said that she may catch up.”

“A year later, we were passed on to a different pediatrician who referred us for genetic testing. She thought there might be a genetic cause for Evie’s heart murmur, hypermobile joints, low tone, and developmental delay. Only months later, we received the diagnosis.”

We immediately joined the Williams Syndrome Foundation, learning all we could about the syndrome, and through the Foundation, we connected with other families – our Williams Family. The Foundation has been a lifeline, providing us with so many resources, as well as events to connect with other families and experts in WS.”

The diagnosis was the key that opened the door to support.

About the Williams Syndrome Foundation

The Williams Syndrome Foundation (UK) was formed as a Registered Charity in 1980 with the aims of promoting research and funding, and providing help and support for families with affected children. The incidence of Williams Syndrome is approximately 1 in 18,000. The Foundation hears of increasing numbers of cases each year – the figure rises as awareness grows.

There are numerous benefits to becoming a member of the Foundation. Research helps current and future generations. There are Regional Contacts around the country – all are parents of children / adults with WS– who keep in touch with local families, arrange meetings, organise awareness, fundraising, social and information events.

The Foundation organises regular online and national meetings as well as local gatherings for families. The Foundation offers funding for holidays for WS adults and families every year. The Foundation acts as support, information and advisory service and keeps members in touch through publications, events and a nationwide regional network. It also keeps a register of all known WS cases and provides access to professionals to promote research to improve the lives of the WS population.  Find out more: https://williams-syndrome.org.uk/

The post Finding Hope: Navigating the Diagnostic Odyssey of Williams Syndrome appeared first on FDNA™.

In his first video, Dr. Martinez Carrascal delves into the case of a young patient with a complex medical history. Through the lens of Face2Gene’s Pediatrician View, he demonstrates how the tool enables him to recognize subtle facial features, dysmorphic traits, and other clinical signs that might suggest an underlying genetic condition. By carefully analyzing the patient’s facial morphology and comparing it to a vast database of genetic syndromes, Dr. Martinez Carrascal highlights how the tool helped him decide the next steps to follow.

In the second video, Dr. Antonio Martínez Carrascal unveils a fascinating aspect of Face2Gene’s Pediatrician View by showing two pediatric cases with complex medical conditions, but no discernible dysmorphic facial features, one resulting in a low score on the Pediatrician View, and the second one, on a high score. This underscores the tool’s versatility in not only identifying facial traits associated with genetic conditions but also in comprehensively evaluating patients without overt physical manifestations.

In the third video, Dr. Antonio Martínez Carrascal shares insights into two cases where Face2Gene’s Pediatrician View played a pivotal role in the diagnostic journey. These cases illustrate the tool’s ability to uncover subtle genetic patterns that might have otherwise gone unnoticed. The video chronicles the diagnostic process, showcasing how the platform assists pediatricians in piecing together complex clinical information, ultimately leading to accurate and timely diagnoses.

Want to know more about Face2Gene’s Pediatrician View? Check it out here!

Or schedule a meeting for a demo with our team to learn about complex genetic diseases!

The post Clinical cases using the Pediatrician View: Dr. Martinez Carrascal shows how it helped him unravel genetic complexities appeared first on FDNA™.

“My diagnostic odyssey started when I wanted to get pregnant but was (or we were) having problems achieving it. Over time, we went to a lot of specialists, but it didn’t help. The hormone treatment that was given to stimulate the pregnancy made things worse. Instead of helping it, it caused my tumor to overproduce the growth hormone”. In more than 9 out of 10 cases, Acromegaly is caused by a tumor in the pituitary gland, called a pituitary adenoma, which overproduces growth hormone (GH), and results in increased levels of insulin-like growth factor 1.

Sandra started to have very bad headaches, her feet and hands grew, her nose and mouth widened, she was very tired and gained a lot of weight in a short time. “The problem with this disease is that not all patients share the same symptoms. Also the changes in your body sometimes are very subtle. If you see me one day and then a month or year later, you would notice. But for me or those around me, we could not see the differences”.

She started to go to specialists to try to find some answers, but no one could figure out what her problem was. “I went to eight different physicians, and they would suggest a gynecological problem, hormones, or even a psychological cause. But no one could see the whole picture”.

It took another two years for a physician to point out the possibility of Acromegaly and order blood tests that helped to determine that Sandra was producing too much GH. “It took eight specialists, a lot of money, and stress to find out what I had. The pain caused by Acromegaly incapacitates you; it gets harder to work and to go out with friends. It is a very debilitating disease. But once you have a diagnosis, there are treatments available that will significantly improve your quality of life”.

Studies show that the diagnosis of Acromegaly is delayed in most patients, and prolonged diagnostic delay is associated with increased morbidity and mortality. FDNA is developing a new solution to help healthcare providers arrive at an earlier diagnosis for Acromegaly based on its Face2Gene tool that uses artificial intelligence to detect physiological patterns by analyzing a simple facial photo. 

“I remember that I was always alone. You don’t forget that. It was very difficult to live with these symptoms because while I was in bed with pain, I saw my friends getting pregnant, going out and getting promoted at their jobs. And so, probably an AI tool like Face2Gene would have been very helpful. This is a disease that has a treatment. So what needs to urgently improve is the detection rate, the time it takes for doctors to diagnose it. “

After the diagnosis, Sandra went through surgery to remove the tumor and fought for access to treatment that would help her live a normal life. She founded Apehi, a group dedicated to helping others with Acromegaly and other pituitary disease patients have access to treatment. Through her foundation, she is now also helping FDNA collect data and patients’ portraits to further develop the tools to improve the earlier diagnosis of Acromegaly. If you would like to help, please contact support@fdna.com.

The post A Diagnostic Odyssey: Sandra’s journey to find out she had Acromegaly appeared first on FDNA™.

Lauren’s portrait indicated a high match with BBS, and Tyler also had BBS as his top feature and a high Facial D-Score On the Pediatrician View. Find more about The Pediatrician View.

Seven years earlier, two months after Tyler’s birth, his parents were referred to the genetics department at Primary Children’s Hospital in Salt Lake City, Utah. Not only was he born with extra toes and fingers, but he also didn’t have a pectoral muscle on one side of his chest and had one pupil that was always smaller than the other. 

“We learned that the chest issue is called Poland’s Anomaly and the pupil problem is called Anisocoria but the doctors determined that the fingers, chest, and eyes were unrelated and no further testing was done,” said their mother, Amy.

Tyler underwent surgery at four months of age to remove his extra fingers and toes. As he grew, his parents saw that he was emotionally immature and he was overweight. In addition, his motor skills weren’t developing as quickly as other children his age. By the time Tyler turned 4 years old, his parents knew he was “different,” but his doctors didn’t see any reason to be concerned. It wasn’t until he started pre-school that they became alarmed.

“As soon as we started him in Kindergarten, we knew there was something wrong.  He was struggling socially, and he had a very hard time following directions and doing the work at school.  We could see a big difference between him and his peers,” Amy said.

They brought these concerns to Tyler’s doctors, and at age 5, Tyler was diagnosed with High Functioning Autism. His parents had a diagnosis but they didn’t think it explained all of Tyler’s symptoms.

“It was a trying time as we went through all kinds of testing to determine what was going on with Tyler but it was also a relief to know that someone besides us could see that Tyler needed some extra help.  Although the diagnosis of High Functioning Autism was helpful, we still felt like there was more going on with him,” Amy said. When Lauren was born, they knew they had to keep digging hard for a definitive diagnosis.

Two years after Lauren was born, Amy heard about another child who had been born with an extra toe. This child had Bardet Biedl Syndrome. Amy read more about BBS and realized that many of the features of BBS fit Tyler and Lauren as well.

“Because this child had been born with an extra toe I felt a connection with her story and began researching about it. I was shocked when I read through the syndrome markers and recognized so many things that matched up with Tyler and Lauren,” Amy said.

In 2011, when Tyler was 10 and Lauren was 3, they participated in a BBS study with the National Institutes of Health, and the children were clinically diagnosed with BBS. The definitive answer would come much later in 2014, when genetic testing confirmed the diagnosis.

Amy and her husband learned all they could about Bardet Biedl Syndrome and became involved with the Bardet Biedl  Syndrome Family Association, run by the Bardet Biedl Syndrome Foundation. Being able to connect with other parents and patients affected by the same rare disorder provided a strong support system for the family and a way to advocate for advancements.

Developing treatments and eventually curing BBS relies on continued research, advocacy, and leveraging new technologies. Early diagnosis is a critical first step in accelerating advancements for patients with these conditions. FDNA developed Face2Gene to aid in the diagnostic process. Lauren’s portrait indicated a high match with BBS, and Tyler also had BBS as his top feature and a high Facial D-Score on the Pediatrician View. Find more about The Pediatrician View.

“My hope for the future is that no families have to wait as long as we did for a diagnosis. It would also help families get treatment at an earlier age for their children, which can make a big difference in the future of that child,” Amy said.

Help Accelerate Advancements for Patients with Bardet Biedl Syndrome
Families and Patients: Ask your doctor to add your or your child’s case to Face2Gene. The personal information will only be accessible to your doctor, but the de-identified data may help others battling a rare disease. Find detailed information about Face2Gene’s features and technology

Healthcare Professionals: Do you have cases to upload that can help Face2Gene recognize eye disorders and accelerate advancements? Upload them through the app or at Face2Gene.com.

 About the Bardet Biedl Syndrome Foundation
The Bardet Biedl Syndrome Foundation is a nonprofit association dedicated to improving the lives of individuals and families affected by BBS. The mission is to provide a support community for individuals and families, information about BBS; and promote science and research to improve the lives of individuals with BBS. They established the Bardet Biedl Syndrome Family Association and work in conjunction with the Center of Excellence for Treatment of BBS at the Marshfield Clinic and with CRIBBS, the Clinical Registry Investigating Bardet Biedl Syndrome. BBSF provides a family conference every other year to bring research information to families living with Bardet Biedl Syndrome and to provide practical advice and family connections for those raising children with BBS. Visit http://www.bardetbiedl.org/ for more information.

The post Diagnostic Odyssey: Brother and sister journey to find a diagnosis for Bardet Biedl Syndrome appeared first on FDNA™.

Nicolas (left) and Bug (right) 3-year-old portraits match on Face2Gene to their eventual diagnosis. This would have made a world of difference for an earlier diagnosis.

Maria Rayane lives in Brazil. Annette Maughan is from the US. They both have sons – Nicolas and Glenn “Bug” – both were diagnosed with a rare genetic syndrome. The boys started to show the first signs of their rare genetic syndromes at the age of 3. In Nicola’s case, it was a developmental delay. For Bug, it was a seizure. They finally got the answers they were looking for, only when the boys were 13 years’ old.

Nicolas discovered that he has Coffin-Lowry Syndrome, an X-linked neurodevelopmental condition caused by a mutation in RPS6KA3 gene. See his full story here.

Bug found out he has KBG Syndrome – a syndrome caused by a mutation of the ANKRD11 gene and associated with a spectrum of challenges, including developmental delays, cognitive disabilities, behavioural disorders, autism, seizures, hearing loss, skeletal anomalies, heart complications and gastrointestinal problems. Read about Annette’s testimonial here.

FDNA is working hard with clinicians and foundations around the world to help them detect rare genetic diseases early. Want to know more or have a demo? Contact us

Want to know more about KBG Syndrome? Reach out the KBG Foundation ,a 501(c)(3) nonprofit organization, dedicated to providing support, assisting in research programs and advocating to raise awareness about KBG Syndrome.

The post Face2Gene helps to reduce time to diagnosis of rare genetic syndromes around the world appeared first on FDNA™.

The years passed by and no one was able to offer any further explanation until she met a geneticist from Curitiba, Brazil, Dr. Carlos Magno Leprevost. Using Face2Gene, he started to investigate the possibility of a rare genetic syndrome and he did find the diagnosis Nicolas so needed.

Maria Rayane lives in the south of Brazil. Nicolas was her first pregnancy, at the age 17 with normal gestation. However, the delivery was complicated – what was supposed to be a normal birth procedure ended up as a c-section. Doctors were concerned with the time it was taking for her contractions to increase and feared that lack of oxygen might lead to fetal distress.

Rayane and Nicolas at 2-years-old, when he manifested the first symptoms (left) and now (right) when he received a diagnosis for a rare genetic syndrome.

“He was born a healthy baby, doctors said he didn’t suffer during birth. Two days later we were home already, but he couldn’t breastfeed properly and was losing weight”, says Rayane. She used baby formula instead which helped Nicolas to gain weight as a normal healthy baby should.

However, Maria Rayane noticed that Nicolas took longer than usual to develop – he started walking at the age of two, and needed assistance to do it. It took even longer to utter his first words. When he was 3-years-old he still couldn’t pronounce a word. But when she questioned the pediatrician, he said that it was all normal. He recommended sending him to school so he would have contact with other children and this would help his development. “When he was 4- years-old it became clear that he had a developmental delay, as teachers would approach me to say that it was not normal for a child of his age to not be able to speak, eat by himself and recognize colors or animals”.

Rayane was then referred to the first specialist, a neuropediatrician who diagnosed Nicolas with cerebral palsy that caused a speech delay. The treatment prescribed was physiotherapy sessions to stimulate his speech.

“I went to a lot of different doctors and specialists, and they kept telling me that he suffered from mental delay probably caused during birth. But I always saw some physical things in him that were different than in other children and reported those to the specialists. For instance his chest has a different shape, his ears, one is larger than the other. His vision caused problems with balance. His fingers are misshaped. However, the doctors would dismiss these, saying that it was not relevant to his diagnosis”.

Rayane went to many doctors until one, a neuropediatrician, took all these issues into consideration and referred her to a geneticist. Nicolas was 10-years-old by then.

(Cornelia de Lange) and RPS6KA3 (Coffin Lowry (X-linked)).To make sure that one of these variants is indeed the one causing Nicolas’ developmental delay,  Dr. Carlos ordered genetic  sequencing also for Rayane, and was able to confirm that only Nicolas carries that mutation. This enabled Dr. Carlos to diagnose Nicolas with Coffin Lowry Syndrome, just as Face2Gene had pointed out.

Following this diagnosis, the RPS6KA3 variant was reclassified from VUS to pathogenic.

Rayane felt very relieved with the diagnosis. “I had been to pediatricians who told me that what my son was experiencing was normal. And then I had gone to specialists that would also tell me everything was normal. Again and again. And at some point, you start to doubt yourself. But I had to find out what was happening to my son, so I just kept looking”.

And now that she has a diagnosis for him?

“We have an expression in Brazil that states that a mother’s heart knows best, and right now my heart is at peace. Dr. Carlos explained to me that what Nicolas has does not have a cure, but we can study other similar cases to learn how to improve his quality of life. That is what I really wanted all along, and right now I can focus only on this instead of trying to find out what he has”.

The post A mother’s heart knows: Nicolas’ ten-year journey to a diagnosis appeared first on FDNA™.