Cornelia de Lange Syndrome

The first time we met with the geneticist, when Ellie was 2 months old, he spent about half an hour assessing Ellie and asking us questions about her and our family histories. At the end of our meeting he pulled out a big thick book that appeared to be some type of genetic disorders dictionary. He flipped to a page and read us a paragraph that described our unique little baby to a T. He told us he thought she had Cornelia de Lange Syndrome, also known as CdLS. He ordered a broad spectrum genetic test called a SNP microarray as well as specific testing for CdLS to be sent off. There are three specific gene mutations that have been identified as causing CdLS, but only 60% of individuals with CdLS test positive for them. Others who display the clinical presentation and features of CdLS, but do not have any of the known gene mutations, can be given a clinical diagnosis of CdLS. The geneticist told us it would take 4-6 weeks to get the results back, but we immediately began researching everything we could about CdLS. The first thing we came across was the website for the CdLS foundation which is an incredible resource for families and providers and has pretty much all the information that is available on CdLS in one place. (Sidenote: Scott and I dream of starting a foundation and website for trisomy 4p one day). We found out that CdLS is very rare, only occurring 1 in 10,000 live births. To give you something to compare that to, the rate for Down Syndrome is somewhere around 1 in 500 live births. As we read about the classic features and medical problems associated with CdLS including short stature and below average in weight (so small in fact they have their own growth curve to measure growth on), long eyelashes, upturned nose, thin down turned lips, low-set ears, high-arched palates, incurved fingers (clinodactyl), proximally placed thumbs, upper limb abnormalities including missing fingers, faulty/nonexistent tear ducts, and severe reflux - to name a few characteristic that Ellie displayed - we felt like Ellie definitely fit the mold for a mild case (you can read more about the characteristics of CdLS here). So you can imagine our surprise when a few weeks later the geneticist told us the microarray results had come back showing a chromosome abnormality and we received her diagnosis of trisomy 4p accompanied by the only two articles available on it. All of the sudden 1 in 10,000 births didn't feel so rare and we would have given anything to have an organized foundation with a team of experts doing research and finding out best practices for our kiddos. We realized there was a lot of overlap between CdLS and trisomy 4p, but then again there is overlap between a lot of genetic disorders. We embraced and moved forward with Ellie's trisomy 4p diagnosis and didn't give CdLS much more thought until our follow up appointment with the geneticist six months later. The doctor walked into the appointment and asked me what we had talked about the last time we met. I was confused what he what he was asking and replied, "Ummmm, that my daughter has trisomy 4p?" He asked if anyone had talked to us about the CdLS test results. I told him the results hadn't come back yet when we had last talked, but since we found a definitive answer in the microarray no one really bothered to check the results of the other tests. He said he hadn't looked at them either until he was reviewing her chart prior to this appointment and saw that her test had shown a mutation in the NIPBL gene which is one of the genes reported to be causative for mild Cornelia de Lange Syndrome. Ellie was given kind of a secondary diagnosis of CdLS. By this point in our journey, Ellie getting a new diagnosis meant very little to me. It didn't give us any more answers than we already had (in fact it just created more questionsf), it didn't change any of the problems we were currently facing, but it did give us a larger community of support. I was excited to have access to all of the resources for CdLS, but I hesitated to fully jump in because I still wasn't really sure where Ellie fit into this diagnosis since Trisomy 4p was still her primary diagnosis.

Back when I was originally researching CdLS I came across a blog (Life on M Avenue) of an incredible mom, Maria, who shares her journey through CdLS with her completely lovable daughter, Ella. One of the first posts I read was her post To the Mom Just Getting a Diagnosis. I can't even put into words what a turning point this was for me. For the very first time in more than two months since Ellie had been born I realized I wasn't all alone. There was someone out there who understood the challenges I was facing and maybe, just maybe, I wasn't the world's worst mother for feeling the way I did. I honestly believe that it was no coincidence that this post was written just days before Ellie was born, but that it was an inspired post that was written just for me. Seriously. I love reading Maria's blog. She is so honest and real about the struggles they face, but always leaves you feeling optimistic and hopeful. You can imagine my excitement when I realized that little Ella and her family live in Nebraska, just two hours away from Omaha, where we would soon be moving. I contacted Maria and she told me about a CdLS family gathering that would be taking place in Lincoln during the summer. This casual little gathering of a few families was nothing compared to the huge national conference that is put on by the CdLS foundation biannually where hundreds of families come together for an organized conference weekend where they can receive free head-to-toe consultations with experts in a range of medical and educational fields; attend workshops on legal concerns, educational issues, and medical/behaviors challenges; and have opportunities to meet other families facing similar challenges. Scott and I were already planning and saving so we could attend the 2016 national conference in Florida. But this little eastern Nebraska get together was more than we could ever dream of in our 4p group where there are only a couple of us that have ever had the chance to meet another 4p family in person. So you can imagine my delight at being able to drive less than an hour away and meet other parents who I could talk to about the local doctors and resources that I was still navigating and other kids that shared so many of the unique challenges Ellie faced.

14 month old Ellie and 3.5 year old Ella

Meeting Ella and her family was definitely the highlight of the gathering. I felt such a bond with them even though I had never actually met them before. Ella was even more adorable and captivating in real life than she is on her mom's blog. I will never forget the way she came running up to us with her squeaker shoes on and did the sign for baby when she met Ellie. Watching Ella was one of the moments I remember being so excited for Ellie's future. I want to thank Maria for the very sweet post she wrote in honor of Ellie on her blog. You can read it here.

I have gotten a little ahead of myself, though, because the gathering was not actually the first time we met a CdLS family. Back in March my mom's neighbor and a close family friend mentioned that her niece, Jennifer, had just had a baby that was having a lot of the same problems Ellie had experienced when she was born. She even felt like little Elisabeth looked a little like Ellie. A few weeks later she told us that they had just been told that Elisabeth had Cornelia de Lange Syndrome. I couldn't believe that of the limited number of people who had CdLS we had a personal connection to one of them! A few weeks later I had the privilege of meeting Jennifer where she met Ellie and I got to hear all about her sweet little Elisabeth, who was still in the hospital.

Jennifer and I have stayed in close contact over the last six months. I have watched in complete awe as Jennifer has made every sacrifice necessary to care for Elisabeth. Last week Elisabeth had the exact same procedure as Ellie to place a GJ tube through a previous G-tube site. The procedure went off without a hitch and Elisabeth was thrilled to have a face free of tubes and tape.

Only 24 hours after this picture was taken sweet Elisabeth experienced a perforated bowel, septic shock, cardiac arrest, resuscitation, and emergency surgery. She is currently in the ICU fighting for her life. Once again, I am reminded that there is no such thing as a simple procedure in these complex kids. They are just so prone to complications. Sometimes it feels like there are no good options and that no matter how hard you try to make the best choice, something is bound to go wrong and then you have to live with all the regret and wondering what would have happened if you had made a different choice.
This whole situation has hit way too close to home for me. I have spent the last three days reliving Ellie's final moments and death over and over in my mind. I cannot bare the thought of someone else experiencing the same loss we have. Please pray for Elisabeth. She is slowly improving, but still has a long way to go. I know that she can do this because she is a fighter and she has her CdLS sister as a guardian angel watching over her.