by Darrell Cookman, Director of Individual Giving, CdLS Foundation, USA office
Education has always been a key component of this organisation’s mission, essential for helping parents and professionals make important decisions that affect the CdLS individuals for whom they care. Myths are an unavoidable consequence of creating awareness of a syndrome about which few people know. In order to clear the air, we will tackle some of these myths head-on.
We know that many readers are familiar with these myths and have worked to dispel them in their own communities. Still, we hope you’ll learn something new here and continue to spread the truth about CdLS.
The belief that everyone with CdLS dies as a result of the syndrome appears to be widely held, both by professionals and lay people.
It seems natural to assume that a condition as serious as CdLS would result in death. Truth is, CdLS is not terminal. A large percentage of the known CdLS population is ageing predictably. The Foundation increasingly is addressing issues of adults with CdLS.
Few things can be more traumatic to a new mother than the belief that something she did while pregnant caused her unborn child harm.
CdLS is in NO WAY a result of anything a mother may have done, omitted, ingested, or experienced during her pregnancy. A random genetic change does not know or care where it occurs. CdLS occurs randomly in children of parents of all ages and ethnicity.
Many children with CdLS experience a delay before achieving traditional milestones such as sitting up, rolling over and walking. There have been several instances where children with CdLS walked for the first time only after reaching their teens.
Scientific Advisory Coucil (SAC) member and orthopaedist, Dr. Thomas Renshaw of Yale University, states, "the delay in walking has more to do with neurological challenges such as delays in general development, fine and gross motor skills, and central nervous system factors influencing coordination and balance (than orthopaedic problems)...The large majority of those with CdLS will walk."
If a child’s walking is delayed, he or she should be evaluated by a paediatric neurologist or orthopaedist familiar with CdLS if the family paediatrician has little experience of the syndrome.
Only about a quarter (25 per cent) of the known people with CdLS have limb differences (usually in the form of elbow contractures or missing digits), certainly not a majority and a poor criterion to use when trying to establish a diagnosis of CdLS.
Experts in gastrointestinal medicine and CdLS estimate that some type of reflux may occur in at least 85 per cent of CdLS individuals at some time during their lives. GI reflux is a serious condition that may result in pain, a reluctance to eat, aspiration (inhaling food or liquid into lungs), oesophageal and/or dental damage, insomnia (sleep disorder), and behaviour problems.
While an initial examination may reflect no evidence of reflux, repeated evaluations are advisable when there is abehavioural change, since reflux may begin at any time in a person’s life. Reflux may be ‘silent’ and difficult to identify without proper medical expertise.
Many families have successfully turned to surgical procedures to combat reflux over the years. Recently, treatment through medication has been refined so that it is being increasingly used as the first line of treatment. In some cases, medication is the only treatment necessary to control reflux.
Some parents of mildly-affected children express hesitancy about becoming involved in Foundation events and programmes. They may believe their children won’t need Foundation services, or feel guilty participating in events when their child is not as severely affected as other children present.
The Foundation is prepared to assist any family who requests help, regardless of the diagnosis, severity, or prognosis for their child. The variation in ability of those affected by CdLS strengthens our organisation, as does the participation of all caregivers. People with CdLS, regardless of severity, have something to teach all of us. Nearly everyone can be matched with others who have something in common in order to listen, learn and share.
Well, perhaps they CAN, but whether or not they WILL depends a great deal on awareness efforts. Many people still do not have Internet (computer) access and if they live in a rural location, the availability of a geneticist may be limited.
If their child is born with a milder case of the syndrome, she or he may not receive a diagnosis or referral by the family doctor. And, as many readers know, many doctors are no more familiar with CdLS than parents. Attention to CdLS awareness is as pressing now as it ever has been.
The founders are exceptional people, but there is little difference between them and the parents who form the backbone of the CdLS Family today. A little over 20 years ago, a group of parents determined what was needed to incorporate this Foundation and to start providing services for families and professionals alike. The founders did some things right, some wrong, and learned in either case.
It is true that many Foundation volunteers, whether they are coordinators (regional or awareness), fundraisers or Board members, put in many hours of service to the organisation and that they often donate their efforts and travel expenses.
However, Foundation volunteers have always been the Foundation’s unpaid staff; their dedication is our strength. The vast majority of coordinators and Board members have been parents of children with CdLS. Their commitment to lead and serve, not the size of their wallets, has been their common denominator.