In a world where the rarity of certain medical conditions often places families on solitary paths, the story of Jedd, born in Ghana, West Africa, a bright-eyed and spirited 5-year-old, stands as an emblem of resilience against the odds.
Diagnosed with DeSanto-Shinawi Syndrome (DESSH), an ultra-rare genetic disorder, Jedd’s life is a testament to unwavering strength, familial love, and the quest for understanding within a medical rarity.
So far there have been two reported cases in Africa who have been diagnosed with DESSH, one in Ghana, West Africa and the other in Morocco, North Africa.
According to a National Institutes of Health study, WAC Syndrome, often referred to as DESSH, is a hereditary disorder brought on by abnormalities in the WAC gene.
It is an autosomal dominant condition caused by pathogenic variants of the WAC gene. DESSH is diagnosed using a test called whole exome sequencing and has only been identified in about 200 people worldwide.
DESSH was first identified in 2015 in a study of 6 patients. Patients exhibit a variable degree of developmental delay, intellectual disability, hypotonia, ocular abnormalities, gastrointestinal abnormalities, epilepsy, behavioral difficulties, and recognizable facial differences.
There is no curative treatment for DeSanto-Shinawi Syndrome (DESSH) but at the moment there are research on going to help find a cure for DESSH, while there are also strategies to manage the symptoms, which may involve a multidisciplinary medical team.
This may include physical therapy and use of assistive equipment to help with mobility, occupational and speech therapy, and use of augmentative and alternative communication (AAC) tools. DESSH has posed challenges that the young boy’s family navigates with unwavering determination and unyielding hope.
Discovery of Jedd’s Ultra Rare condition
The family’s journey began with a search for answers to Jedd’s developmental differences, which led them on a path through numerous medical consultations and tests.
Jedd was diagnosed with a mild form of astigmatism and wears a prescription glasses which he dislikes due to the SPD. This is to correct the diagnosis of astigmatism
He has had Auditory testing done at the Auditory Department of the Hearing Assessment Center at the Korle-Bu Teaching Hospital and the Bank Hospital, in Accra.
With physiotherapy and prayers, Jedd started rolling, crawling, cruising and then surprisingly two weeks to his second birthday, he started independent walking.
Jedd, his mother shared, met all his milestones until he was about 8 to 9 months old. He had delayed gross motor skills (he was not crawling and rolling over was a bit challenging for him to do. Also, Jedd’s vocabulary was very limited.
Jedd pediatric neurologist diagnosed him with Autism Hypotonia, ASD level 3 (Autism), and Sensory Processing Disorder when he was just 2 years old. Because his parents knew a few people who had children with autism, they weren’t surprised with the condition.
“We felt there was more to Jedd’s symptoms than we were initially told so in the year 2021 whiles researching on Jedd’s symptoms, we chanced on an Instagram handle and a YouTube video of a little girl who had similar conditions as Jedd’s and was misdiagnosed of having ASD, but later did an exome sequencing testing and was discovered as having Chung Jansen Syndrome or PHIP Related disorder
Jedd’s father who also recalled how unfolded back then said, “when we realized that he wasn’t walking we started with physiotherapy very early. So it was the Physiotherapist who introduced us to the Rare Disease Initiative. So the Initiative had an open slot for whole genome sequence testing through their diagnostic access program.
His blood samples together with that of his parent were sent to a lab in the U.S.A for genetic testing to be done. The Whole genome sequencing testing was done and Jedd was diagnosed with WAC -related intellectual disability or DESSH in February of 2022.
It was at that point that they learned that Jedd’s autism is a symptom of DESSH. Along with these features, he has an inverted eye, a square face, and a large forehead. Constipation is a symptom of DESSH, but difficult meal time isn’t a symptom of DESSH.
The better the days have been, the harder it is to eat when he had an upper respiratory tract infection, which is characterized by red insect like bite”, the mother disclosed. Jedd communicates non-verbally by gestures and vocalization. “Jedd’s form of expression is unique. Through gestures, sounds, and expressions, he conveys his emotions and needs,” shares Jedd’s devoted mother.
Bruxism, a common occurrence for Jedd during periods of pain or discomfort, added another layer of challenge. “Jedd’s teeth grinding indicated his distress, especially during infections or times of discomfort,” says his mother.
Medical treatment and Therapy options for Jedd.
Amidst the absence of a cure, living with an ultra-rare disease poses multifaceted challenges. Like many rare disease, DESSH currently does not have an approved drug treatment and management is symptomatically by a multidisciplinary team.
Jedd has had a liver and Kidney function test done this 2023 year, as well as an allergy profile testing done in 2022 and his levels are all in the normal range. He’s also had an EEG done to rule out seizures if any. The results were normal with no seizures.
“We explored various therapies, adaptive techniques, and early interventions tailored to support Jedd’s development. The DESSH community is trying to find a cure but it’s challenging because it’s ultra rare.
So we do physiotherapy, occupational therapy, speech and language therapy, son-rise therapy and behavioral therapy that is helping to managing the condition”, Jedd’s mother added.
Jedd’s father who chipped in at this point bemoaned that, “Most of the adjustments have to do with the finances. Therapy in Ghana does not come cheap. We have made a lot of cuts. The condition comes with a lot of upper respiratory problems and we have to visit the hospital every now and then”.
But his workplace, the Ghana Ports and Harbor Authority has been supportive in managing Jedd’s condition.
Jedds Education
He is currently in Pre-K at an inclusive school where he does Montessori thrice a week and therapy school twice a week. Therapy at school includes SLT, OT, son-rise therapy and a bit of ABA. He also does therapy outside of school and we have seen great improvements in him.
Support Systems for Jedd.
Central to Jedd’s journey is the unwavering support system surrounding him. “Our family, friends, and a network of compassionate individuals have been a cornerstone in our journey with Jedd,” says his mother.
Jedd’s journey symbolizes resilience, unity, and the power of love in overcoming adversity. The family’s unwavering determination, coupled with the remarkable support they receive, highlights the importance of unity, advocacy, and creating an inclusive environment for individuals facing unique challenges like Jedd.
His parents feel that God has been so graciously good to them. Jedd has a super power! He is neurodivergent & uniquely wired and they hope for the best for their amazingly sweet Jedd the flash.
Amidst the uncertainties, the family remains resolute in providing Jedd with a nurturing environment that fosters his development and celebrates his milestones, no matter how small. Occupational therapies, educational interventions tailored to his needs, and a supportive community.
“Our aim is to ensure Jedd lives life to the fullest,” His mother affirms. “We focus on his strengths, cherish his uniqueness, and advocate for increased awareness and resources for ultra-rare conditions like DeSanto-Shinawi Syndrome.”
Jedd’s mother is hoping that through advocacy many people will be educated on matters relating to rare condition. Many people experience comparable circumstances, yet there is a dearth of knowledge about them.
It is her hope that the Ministry of Education will provide adequate training and education to support divergent kids and also kids with learning disabilities and challenges.
Rare Disease Ghana Initiative’s (RDGI) Intervention
Founded by visionary individuals committed to making a difference, with its mission to improve the wellbeing and quality of life of persons living with rare disease in Ghana, the Rare Disease Initiative led by Mr. Samuel Agyei Wiafe who has dedicated his life to offering hope and support to those traversing the uncharted territories of rare diseases.
In an exclusive interview with the founder of the Initiative, Mr. Samuel Agyei Wiafe, he shared that “Rare diseases often present unique challenges due to their scarcity and lack of awareness. Our vision is to ensure that individuals with these conditions receive timely diagnoses, access to appropriate medical care, and necessary support to enhance their quality of life,” he shared passionately.
Mr. Wiafe recalled the moment he first encountered Jedd’s case, “when they first reached out about the family and considering the zeal and determination of the mother especially, we had to go on a journey of helping the family to find the diagnoses and I could understand the frustration the family was going through”.
He explained that they were surprised when the results came out that it was an ultra rare disease and a disease that comes out to be very uncommon in Africa with only two reported in Africa.
“living with an ultra-rare disease like DESSH also comes with some sort of isolation because you done’t know who to go to, where to go, which community you belong to and who to talk to”, he shared. “
We have the patient community where we connect families to the right communities and they receive the needed information about rare disease and they can receive assistance from the assigned care coordinator”, he continued to explain.
On managing the DESSH, he bemoaned that there is scanty information available on the disease, less research conducted on it and all the information are just with scientific terminologies which makes it difficult for people without scientific knowledge to understand. Positively, the family has been able to connect with the global DESSH community where they can get up to date information about the condition.
Commenting on treatment for Jedd’s condition, Mr. Wiafe said that there is currently no cure for DESSH. It is good to know that many rare diseases do not have approved drug treatments. Only about 5% known rare diseases have some approved treatment but none for DESSH currently.
This he said it’s because there is a limited knowledge on the disease and due to the small number of patients affected, this does not inspire investment in development of treatment. Care and management are symptomatic and require multidisciplinary team.
In Jedd’s case, he is getting some treatments especially with his regular therapy, support and education. Through a combination of physical therapy, medication, and innovative interventions, they have been able to improve Jedd’s quality of life and provide hope for his future.
Like the family bemoaned the cost of treatment for the disease, so did the Mr. Wiafe and as a result has called for invest in rare disease by the government and other stakeholders including well-meaning individuals and institutions so that persons living with similar conditions can be diagnosed and receive the right healthcare and support irrespective of where live in the country.
The diagnosis of Jedd’s condition has only strengthened Mr. Agyei Wiafe resolve to make a lasting impact on the lives of individuals affected by rare diseases in Ghana. His ultimate goal is to raise awareness about these conditions, advocate for improved access to healthcare resources, and establish a support network for affected families.
He elaborated on this journey, emphasizing their dedication to facilitating connections beyond geographical boundaries: “Our network allows us to tap into resources and expertise globally, ensuring that individuals like Jedd receive accurate diagnoses and access to specialized care, regardless of where they reside.”
Beyond individual cases, he emphasized the importance of raising awareness about rare diseases, encouraging people to seek proper testing and fostering a supportive environment for affected individuals.
“We are able to break that barrier of silence. We are able to get many families to come out, understand their needs and provide the necessary resources available. If they reach out to us we will be able to help them. If they reach to us and there is a suspected for a rare disease they can further undergo testing and confirm diagnoses then treatments begin”, Mr. Wiafe said passionately.
The Initiative actively advocates for improved healthcare policies and increased research funding dedicated to understanding and addressing rare diseases within the Ghanaian healthcare system.
Commenting on the healthcare system, Mr. Wiafe told this paper that Ghana’s healthcare system has not been traditionally set up to address the needs of persons living with rare diseases. However, with the existence of Rare Disease Ghana Initiative and through engagements with various stakeholders, there has been progress and improvements citing that, “few centers that have been dedicated purposely to rare disease” despite the fact that there is no National concerted effort yet.
However, he has called for all hands on deck for more efforts in the rare disease from the government and its Agencies influence policy changes that will benefit not only those affected by DESSH but also individuals with other rare diseases.
