Potential amelioration of morbidity in patients with chromosomal anomalies: relevance to Bardet-Biedl syndrome

Abstract

Given the genetic basis of their disease, children with major chromosomal abnormalities including Bardet-Biedl syndrome (BBS) are generally considered to have a guarded prognosis with persistence or progression of disease manifestations. Although various therapeutic interventions are commonly used to control signs and symptoms of illness, parents of BBS children are usually cautioned against hoping for sustained improvement. A case of a 21-month-old girl, diagnosed with BBS, manifesting signs of worsening visual impairment, obesity, irascible and disordered behaviour, as well as developmental delay, is presented. After initial evaluation suggested specific biochemical deficiencies, nutritional status correction was undertaken and the patient's signs and symptoms subsequently resolved over the course of several months. To the authors' knowledge, this is the first case report of sustained resolution of all disease manifestations in the face of previously deteriorating health in a young child with this major chromosomal abnormality. It appears that biochemical imbalances and insufficiencies resulting from abnormal metabolism and excretion are potentially amenable to extraordinary dietary supplementation, with partial or complete resolution of clinical abnormalities. It is recommended that all children with chromosomal abnormalities have biochemical and nutritional status evaluation with correction of disordered biochemistry as is possible.

Bardet-Biedl Syndrome

“…Astonishingly, this child experienced a remarkable improvement of vision, resolution of obesity, normalization of behavior and mood, and restoration of normal development during the following 2 years and remained virtually healthy by the time of publication, i.e. being 7 years old [Genuis and Lobo, 2011]. While already established organ anomalies are notoriously difficult to treat, the mere delaying of BBS symptoms, if started from birth, may eventually turn out to be a feasible strategy.…”

“…Other approaches, e.g. as in the above-mentioned case based on nutritional correction [Genuis and Lobo, 2011], deserve rapid clinical assessment. In addition, population-based genetic screening is gradually becoming more achievable, thanks to decreasing costs and improving throughput for DNA-based assays.…”

“…In addition, population-based genetic screening is gradually becoming more achievable, thanks to decreasing costs and improving throughput for DNA-based assays. Routine identification of carriers of BBS mutations may eventually reduce the disease burden by revealing families at-risk and taking appropriate preventive actions [Genuis and Lobo, 2011;Baker et al, 2013].…”

Impact of Local and Systemic Factors on Kidney Dysfunction in Bardet-Biedl Syndrome

“…Another interesting case report suggesting that metabolic factors may contribute to organ dysfunction in BBS was published in 2011 [58]. The authors reported the case of a 21-month-old girl, with polydactyly at the birth and obesity during the first infancy.…”

What's Out There Making Us Sick?

“…Preventing birth defects by securing adequate folic acid [57], relieving post-partum depression by correcting fatty acid deficiency [40], restoring mental health by eliminating stockpiled toxicants [58–60], reversing some cases of autism by removing incitants and addressing nutritional deficiencies [22, 61], treating pediatric arthritis by managing food intolerances [62], overcoming impairment resulting from some chromosomal anomalies by remediating biochemistry [63], resolving inflammatory bowel disease with avoidance of sensitivities [53], relieving asthma and chronic fatigue by mold remediation [48], ending the tragedy of habitual abortion by addressing electromagnetic toxicity [50], and the author's experience of achieving remission from leukemia in a patient by eradicating retained aflatoxin are all examples of what can possibly be realized if underlying causes of sickness are explored, identified, and properly managed. …”