I have often heard the saying, “When a door closes, a window opens.” Many have applied this to their own experience… and the question remains, “Is it God? Divine intervention? Chance?” We may not ever know and so we all relate to the experience through our own beliefs to make sense of it.
We tried for a long time to conceive. We finally did and would not change that for the world. Adeline is an amazing gift to the world. She was born with a genetic abnormality and at that moment the story was written; the room was built and that door was closed.
Adeline came into the world in dramatic fashion. I remember the doctor trying to deliver and I was so nervous that she would hurt Adeline’s head or eye because of the way she was swiping the circumference with her fingers. Eventually, she was born only to spend the next several days in NICU. That too was a draining, scary experience, but it finally ended and we brought our little girl home. Adeline was born with unusual birthmarks that we now know are called café au lait spots. Was this a window? The pediatrician could have raised awareness of these markings and their implications. Ultimately, we could have been more curious to research them, but I suppose we were content to think they were harmless. We did not go through that window.
In Adeline’s first year we noticed that one of her eyes has slightly more fullness at the eyelid. I know that rarely is someone’s face truly perfectly symmetrical, so it was not of great concern. We did attend an appointment with an eye specialist who told us, “It is nothing. She will grow out of it.” Again, content with what we heard, we went on with life unaware that this is sometimes an ominous sign. Was this another window opened before us that we could have gone through?
My sister had informed me of a genetic testing service that would test me for free because it was discovered that one of my parents was positive for Lynch syndrome; I was indifferent about it and closed that window.
My wife was likewise aware that Lynch existed in her family, but because of our lack of knowledge it was not perceived to be an influential factor and that window closed as well.
At the beginning of 2020 we decided to try to conceive a sibling for Adeline. After many months of no luck, we went through the checklist to be sure everything was working. Then in December, we were referred to a fertility clinic which required us to complete genetic testing prior to starting our first treatment cycle. Our general carrier testing results were unremarkable, but it was suggested that we pursue optional genetic cancer screening due to the history in both our families. Another window opened and this time we went through, unaware that we had.
The way we were introduced to CMMRD through the genetic counseling service was atrocious and unprofessional. It is a story for another time. What I realize now is that there were numerous opportunities for us to potentially discover that Adeline was born with CMMRD. Someone wanted us to be made aware of it so that we could be prepared to battle it. We needed to not be blindsided by it later in her life.
We were in a dark room with the door closed all along and did not even realize it. Maybe there is some force, some power, something Divine leading us to where we are now... going through the window.
We will research. We will plan. We will fight. Adeline will prevail. And we know that if we find ourselves in another room behind a closed door… we will be aware and find that open window.
Please. Please, if anyone can help.
Our daughter, Adeline, has an extremely rare genetic disorder, called CMMRD. Constitutional Mismatch Repair Deficiency Syndrome. I feel sick typing it and don’t want to say it out loud. Please take a minute to read about it here.*
The thought of the suffering Adeline faces brings me to my knees. Like all parents, we would give our lives for her to not have inherited this from us. Guilt, anger, fear… I don’t have words.
Adeline needs your love, your prayers and power of positive energy. Please keep her in your heart.
We will not rest until we find a way to help Adeline. We are limited in our abilities and resources, so we are asking for help from all our family and friends, and all their friends, acquaintances, peers, and neighbors. Information, knowledge and access are what we need for Adeline right now. Can anyone put us in touch with…
Tests to rule out existing cancers and establish baselines will begin very soon. Adeline faces lifelong invasive testing… I am sure that we cannot fathom the extent of anguish we will feel in the coming days, weeks and months.
Please, if you have anything that can help us help Adeline, email firstname.lastname@example.org.
Ed and Christine Eick
* Constitutional Mismatch Repair Deficiency Syndrome (CMMRD)