Saving Celise

It’s been a while since our last update, and I finally have solid information to share. There have been lots of ups and downs, bad news and good news, hope lost and found again over these last few weeks. 

Celise is doing pretty well right now, all things considered. She has been off the paralytic for several days and is back to showing all of the nurses her attitude and displeasure around things like diaper changes and turning her onto her side. She seemed especially proud of herself for peeing all over one of the nurses. The doctors are pleased with her current status and are encouraged by the turnaround she has made since her first week or two here at MUSC. She’s still on the ventilator, but they have made great strides in reducing the amount of breathing support needed.

Unfortunately her heart is a lot more complicated than first expected. Despite what we were previously told, there are no surgical interventions that can correct the most critical aspect of her heart. In addition to the correctable issues (pulmonary stenosis and vascular ring), she has severe hypertrophic cardiomyopathy (thickened heart muscle). Typically, this is an irreversible heart condition that is managed by medications in an effort to prolong life, though it isn’t usually seen in newborns. When it reaches “severe” levels like in Celise, it is considered heart failure and the only remaining option is a heart transplant—which is not an option for Celise. She is currently too sick to be placed on the transplant list as they don’t think she would survive the surgery. 

So where does this leave our baby girl? With no surgery to correct her typically irreversible condition, all of our hopes were completely shattered. For several days we really thought we were going to lose her, and her doctor even discussed whether she should be resuscitated if she were to have a cardiac event. But as we’ve said before, this little girl is a FIGHTER and she already loves to prove people wrong. At every turn she has amazed the doctors with her resilience. 

As I mentioned in the beginning, there has been a lot of hope lost—but we were also able to find it again. While hypertrophic cardiomyopathy (HCM) is usually found in older adults, there are a few genetic mutations that cause it in children as well. Without diving too deep into the science, there’s something called a MEK pathway that controls cell growth in the body. In people with certain mutations, this pathway is permanently switched “on”, continuously growing more cells when the body no longer needs them. Cancerous cells have the same function: continuous growth. So why is this important and how does it relate to Celise? There is a cancer drug that is used to turn off that pathway (MEK inhibitor), and just in the last few years it has become an experimental treatment for HCM in babies with the specific gene mutation. The MUSC Genetics team expedited her DNA tests and they confirmed she does have the correct mutation, making her a candidate for this experimental drug. Of course we still had to wait for approvals from the FDA, Internal Review Board, and the drug company, and what was actually *record time* felt like an eternity, but she was approved and able to start the medication today! With a lot of science, luck, and a whole lot of hope, this drug could do what was previously impossible—reverse an irreversible heart condition.

It will be a while before we know if the drug is doing its job, and we will likely be in Charleston for many months. Only a couple dozen babies have trialed this drug so no one can say for sure what her odds are, but the results the other babies experienced were truly miraculous and life saving.