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Treatment Solutions

Identifying treatments for rare genetic disorders presents several challenges due to the rarity of the conditions, the complexity of the underlying genetics, and the limited availability of patient data.  We tackle these challenges through engaging with clients at every point of focus in their lives, through liaison with medical practitioners, therapists, family members.  We combine individualized clinical data with insights from the child’s support system and use this to identify specific disease mechanisms associated with the underlying genetic disorder. Our approach to identifying novel treatments for rare genetic disorders requires a multidisciplinary approach involving collaboration between clinicians, researchers, pharmaceutical companies, patient advocacy groups, and regulatory agencies.  In our search for solutions for our clients we factor in the following issues:

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Small patient populations

Rare genetic disorders affect a very small number of people, which makes it difficult to conduct clinical trials and collect data on treatment effectiveness. This can lead to a lack of statistical power and difficulty in recruiting participants for clinical trials.

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Regulatory hurdles

The regulatory approval process for drugs targeting rare genetic disorders can be complicated and time-consuming, as there may be limited data on safety and efficacy. This can delay the availability of treatments for patients.

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Lack of understanding of disease mechanism:

Many rare disorders are caused by mutations in genes that are poorly understood, making it difficult to identify potential targets for treatment. Many rare diseases may not have a clear genetic etiology and this can complicate matters further when identifying treatments.

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Access to treatments

Even when treatments are available, patients with rare genetic disorders may face challenges in accessing them due to the high cost of treatment, insurance coverage limitations, or lack of availability.

Many children with rare diseases experience gastroesophageal reflux disease

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What is GERD, and how can we help?

GERD, or Gastroesophageal Reflux Disease, is a chronic condition where stomach acid frequently flows back into the esophagus, the tube that connects the mouth to the stomach. This backflow of stomach acid can lead to various symptoms and complications. Normally, a ring-like muscle called the lower esophageal sphincter (LES) prevents the contents of the stomach from flowing back into the esophagus. In individuals with GERD, the LES may be weak or relax inappropriately, allowing stomach acid to escape.


Individuals with rare diseases may be at particular risk of developing GERD due to:


  1. Tone abnormalities, including decreased muscle tone (hypotonia) in some muscle groups, including those responsible for maintaining the function of the lower esophageal sphincter (LES). This weakened LES can result in an increased risk of acid reflux. 

  2. Limited mobility can impact the ability to sit or stand upright, which can affect the natural anti-reflux mechanisms and contribute to reflux symptoms.

  3. The underlying genetic disorder can alter gastrointestinal motility, leading to delayed gastric emptying and impaired movement of food through the digestive tract. This can contribute to reflux and regurgitation.

  4. Rare diseases are often associated with oral motor dysfunction, such as dysphagia, which results in difficulties with swallowing and oral motor control. These difficulties can lead to problems with effective swallowing and increase the risk of reflux.

  5. If your child experiences communication difficulties, this can make it challenging for them to express their symptoms accurately. This can delay diagnosis and appropriate management.

  6. Children with rare diseases are often at risk of aspirating stomach contents, this means they may regurgitate into the throat and even the lungs, potentially leading to aspiration pneumonia.


We can assist in developing treatment approaches for GERD (Gastroesophageal Reflux Disease) with the aim of alleviating symptoms, reducing the frequency and severity of acid reflux, healing any damage to the esophagus, and preventing further complications. Treatment strategies can vary depending on the severity of the condition and individual patient factors. We work alongside your child's gastroenterologist and/or a specialist in pediatric neurology, to develop a comprehensive plan for managing GERD. Our treatment approaches are tailored to the individual's specific needs, taking into account their rare disease and any other factors that might influence treatment success.

Neuroinflammation and Rare diseases

Inflammation is a natural and necessary response of the immune system to fight infections and repair tissue damage, abnormal or chronic neuroinflammation can be a hallmark of several rare diseases that affect the nervous system.  Neuroinflammation refers to inflammation that occurs within the central nervous system (CNS), which includes the brain and spinal cord. It is a complex immune response involving various immune cells, cytokines, and other signaling molecules.  In rare diseases, neuroinflammation contributes to the development of neurological symptoms such as seizure disorders, motor impairment, sensory abnormalities and intellectual challenges. 


Chronic inflammation in the brain can cause significant damage to the CNS. Understanding the mechanisms underlying neuroinflammation in these conditions is crucial for developing targeted therapies and improving patient outcomes. Treatment approaches may involve immunosuppressive medications to dampen the inflammatory response, but the specific approach varies depending on the disease and its underlying mechanisms.

We are experienced in providing customized treatments to children with rare diseases. We have worked with a range of rare diseases and can assist in developing the perfect treatment plan for your child, taking into account their unique circumstances and needs.

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