Lead article - Reaching Out, July/August 2000
"Reaching Out" has long been one of my most eagerly anticipated mailings. I look forward to hearing about what our families have been up to, how we're growing, what we're sharing with each other. I read about old friends and new friends I haven't yet met. We've come a long way - the Foundation, our families, our work. We've connected in ways we could not have predicted those many years ago when I first began my career with CdLS. We've built memories. Which is why this article has been so difficult for me to write. If this is difficult for you to read right now, it's okay if you want to wait until a better time.
I've begun this article many times, and found my biggest challenge to be the conveyance of information as a human being and friend, while gathering that information as a physician. I have always found that separation to be difficult, and it's not easy now. I have read and reread my files, compiled data, reviewed photos gathered through years of connection with my families, my patients, my kids. Now I must compile that data into statistics - statistics don't tell stories - people do. So, let me first start with a "thank you".
I personally knew each of the children or their families in these files, and have shared difficult hours with them. I thank them for that gift. I continue to correspond with some of these parents, and in some cases, have congratulated them on new additions to their families; I have also shared their heartache with them. I thank these parents for that privilege. These families have given me the right to come to them and ask difficult questions at trying times, and the right to ask these families to make some very difficult choices. I thank them for that honor. These families have been most generous with their time and efforts, their records and their confidences in sharing their experiences with our Scientific Advisory Committee, with me, and now, with you. I thank these families one and all.
The profiles I present here are based on a finite number of cases in my data gathering and experience. This is a work in progress and much more needs to be done to obtain more exact records from doctors and hospitals with regard to each person with CdLS. It is imperative to remember that we learn more each day about treatments, interventions, medications; the particular "cause" ten or even five years ago has been eased with that increased knowledge. What we know today is more than we knew when each of these people with CdLS left us. The hope is that some of these people with CdLS had problems which, if better understood and anticipated, could have been treated before they became serious enough to lead to death. Although CdLS is a syndrome with serious problems both physically and developmentally, most of these should not lead to a shortened life span.
This is what we have learned clinically. Each person with CdLS has individual complications relative to the degree of CdLS affectation, medications administered, numbers of surgeries to correct deficiencies, and congenital anomalies present at birth. Each person with CdLS must be evaluated as an individual. There is no correlation between age and cause of death. Adults with CdLS can live well into the 40's and beyond. With these factors in mind, and in my experience, these are the causes of death in people affected with Cornelia de Lange Syndrome; which we know now.
At birth during the neonatal period: Congenital heart defects (most are correctable but some are complex and inoperable either by virtue of the malformation itself or because of the low birth weight and poor growth of the CdLS child. It is important for parents to know that congenital heart defects usually are corrected during infancy or early childhood. Properly managed, they are not problems which surface later); insufficient lung development due to intrauterine growth retardation and prematurity; congenital diaphragmatic hernia (difficult to correct surgically and occurring more often in CdLS newborns than in the general infant population). Pneumonia is frequently an end complication of the above problems.
SIDS: There is no direct correlation between SIDS and CdLS. A child moderately to severely affected with CdLS can die in his/her sleep from CdLS characteristics such as heart defects, aspirations from reflux or twisted bowel.
Twisted Bowel/Intestinal Obstruction/Malrotation: This problem, often called volvulus, appears to occur more frequently than one would expect. Often symptoms are vague and episodic, and hard for the child to communicate and hard for the doctor to interpret. It is important for the doctor to realize that this is an increased possibility in a person with CdLS because proper detection leads to treatment that will prevent dire consequences.
Seizures: Many people with CdLS have seizures and most are transient. Many persist and people with CdLS, again, seem to have more than their share. Most are controllable, but in people with CdLS, as with anyone, some are extremely difficult to control without significant "trade-offs" between control of the seizure, and heavy medication effects.
Surgery: There is no direct correlation between surgery and cause of death. Deaths resulting from surgical procedures arise from infections or pneumonia relative to generalized weakness of the individual prior to surgery.
Pneumonia: is not uncommon as a cause of death when accompanying other illnesses or organ failures. Pneumonia can result from reflux if stomach contents are aspirated into the lungs. Reflux is an extremely common problem in persons with CdLS, and may be hard to diagnose without a high index of suspicion and proper testing. Testing leads to reasonable control and the prevention of complications such as the chemical pneumonia caused by aspiration.
This, however, is what we know in our hearts: We know love brings miracles and can overcome any odds. We know we are not alone. We know our children surprise us daily with progress much beyond what we're told to expect. We know what medical science can teach us, but what we really learn comes from our kids. They know. And if we listen to our children - each of them has their story to tell - then we will know too.
Thank you for the opportunity to work with you, to meet your families, to share your experiences. Thank you for all you have taught the Scientific Advisory Committee. My special thanks to the Foundation, for giving me the opportunity to share my experiences with this most difficult of topics. I have the utmost respect for you all.
(I not only thank the families and the Foundation - but my wife, Marie. As you probably suspect, she had a major role in this article. Without her, I would not have allowed myself to express some of what is written above. Thank you, Marie!)