DCFS…. A Russell-Silver Syndrome Reality

It isn’t the percentage of cases that concerns me, it is the unfortunate emotional devastation that ensues from lack of understanding and knowledge of a misunderstood disease.  Department of Children and Family Services is commonly referred to as DCFS.  Aside from the overwhelming numbers of actual “Indicated” abuse/neglect allegations in Illinois for FY 2010 – http://www.state.il.us/DCFS/docs/canstat.pdf of over 28,000 children – was the “Alleged” accusations of the same totalling over 109,000 children.  Indicated means there was actual documented and clarified proof that a child was abused and/or neglected.  Alleged – is as interpreted – “maybe”. 

What is disconcerting is the emotional impact placed on families that are put through the DCFS system and for Russell-Silver Syndrome families –  of which are most likely (based on the disease characteristics) unwarranted.  RSS families are already struggling to ensure adequate care for their children.  To have to endure the trauma of being suspected of neglect –  to say the least – is disappointing.

In the last 8 years, I have been approached by 4 families about their experiences with DCFS and their Russell-Silver Syndrome trials.   Such as in the most recent communications with an exhausted and yet determined mother, her plight began with her own Pediatrician.  Even with advances in knowledge and effortless outreach for RSS – it was just last year that her child was allegedly termed neglected by her pediatrician.

The purpose of naming a disease rare is due to the relatively low incidence rate of the disease amongst the greater population.   Due to lack of funding for research, limited comparative models for assessments, and minimal access to centralized access of information related to each disease (such as a database model) the burden is placed on the physician responsible for a patient’s individualized care.  Without sufficient knowledge and resources – physicians are therefore required to base their treatment options on what information they can obtain. 

Unfortunately, for Russell-Silver Syndrome infants/children – the burden is thrust on the parent due to lack of understanding on how to manage an RSS child’s health requirements.  And thus, the parent is resigned to all they know – how to manage a “normal” child that has a myriad of health issues that do not fit in a typical spectrum of  – what I term as rare health management.  Let me explain.  A child with diabetes (once considered rare) has typical rare health management – they have access to a multitude of information; pamphlets, media, physician knowledge, and pharmaceutical “supplies”.  A child with Russell-Silver Syndrome has only a fraction of these amenities – resulting in lower quality of care – based entirely on lack of understanding. 

Failure to thrive is a typical diagnosis for Russell-Silver Syndrome patients.  When the diagnosis is not made early enough – these children face significant lack of nutrition, frequent hypoglycemic attacks and of course – scrutiny by physicians, family and friends.   The reason for these characteristics center around the disease itself.  Based on a recent study by Dr. Netchine of France, out of the total number of patients in the study – more than 60% of the children were confirmed for a new genetic marker that has been found to be prevalent in RSS patients (11p15 ).  This genetic anomaly specifically mentions terms for failure to thrive as part of the disease characteristics.   Although I am unaware of the number of children that had not been previously diagnosed with Russell-Silver Syndrome – I happen to personally know many of the families that participated in the study – and most of those individuals suffered the same fate as others – inability to have access to information pertaining to treatment options for their child.  Why is this significant?  Because it relates to the lack of care and understanding that is prevalent in a child with or without a firm RSS diagnosis (rare disease) who is failure to thrive.  Thus, in the case of some families, being inappropriately reported to DCFS because of lack of knowledge and understanding of the disease itself in the end result.

I recently received an e-mail from a mother who had stated “a former pediatrician of hers called DCFS due to *****not gaining weight fast enough!”  (*****name withheld for privacy purposes).  Fortunately, due to the internet, parents become informed quickly about different disease possibilities (when a child has not yet been diagnosed).  There are support groups, non-profit rare disease groups (Children’s Rare Disease Network http://www.crdnetwork.org/ and Global Genes project http://www.globalgenesproject.org/ ) and other health information sites that offer avenues for concerned and bewildered parents.  But, for this parent – she was faced to venture out alone.  Rather than the Pediatrician taking the parents’ concerns about her child’s well-being early on – the parent was immediately termed as neglectful.  The exact opposite of the truth.  This is what I found to occur with all the parents/families I spoke to when their children were allegedly neglected and reported to DCFS. 

It is truly disheartening to hear that even now – after 8 years of advocating, supporting, legislative and vigilant networking that I hear of yet another family that has had to endure the stereotype and scrutiny of a uninformed physician. 

Physician Education……coming soon.