In January we got a troubling ultrasound. For a month I found my emotions go up and down as we tried to make sense of everything. We had come to accept what our life was going to bring. Then a month later, we had another ultrasound. At this second ultrasound, we were reassured that there wasn't anything to worry about, we just had a baby with an extra finger. I felt relieved about this outcome, but still had an uneasy feeling. I dismissed it and we went along preparing for the birth of our baby.
Evelyn's pregnancy had been very different than my any of my boys'. I figured that it was because she was a girl. But I was much sicker, and more tired with her. And the last month, I felt so big and exhausted it all feels kind of like a blur to me now.
Needless to say (if you've read her birth story) Evelyn's birth was by far my most difficult. That is not what I expected for my 5th delivery, but that's how it happened.
As I stated before, since Evelyn has been born, our life has been a roller coaster. When we were in the NICU, the doctors ran a ton of tests. They kept on saying that she had "dismorphic" features. At the time, I was like "uhh...okay" but I figured they felt that way for she looked a little different but I just attributed it to a difficult labor. I will tell you now I cannot stand the word "dismorphic". I realize that they were using it medically, but is still one that I cannot stand. No one likes to hear that their child is "D", but also once you are in Evee's presence, even for just a few moments, you realize how beautiful and sweet she is.
The next couple of months were a blur. Evee was very fragile. She didn't have any neck strength, and her breathing was incredibly concerning. There were so many nights I would get upset and emotional, anxious about going to sleep for I feared that I may not wake up to my baby breathing. I would wake up at night in a panic when I didn't hear the usual stridor of Evelyn's breathing, only to find out that she was breathing softly, normally. It was a little difficult to be well rested for I woke up when she woke up and I woke up when she didn't wake up
After Evee had been admitted to the hospital and they found that she had episodes of apnea, her doctor wrote her a script for an apnea monitor. This has given me such a relief. She wears two electrodes on her chest and if her heart rate drops the monitor will sound off a loud alarm. It has gone off about once a week, but Evee quickly corrects herself (gets her heart-rate back up). But it's enough to scare you, especailly when your husband is working nights and you're home alone. Now whenever I hear a beep (like someone's cell phone receiving a message) I tense up for subconsciously I am thinking that it's Evee's monitor alarming, even when I am holding her in my arms.
After having Evee, life has been hard to get back to normal. She has had so many doctor's appointments, and I didn't feel like any of them were completely helpful. I felt that the doctor's didn't have a lot of answers, or that some dismissed the severity of her breathing as something that was "normal" and that "kids have it all the time and it's not really a problem". All the doctors seemed to be silent about something, and they were all very interested in when we were seeing Genetics and seemed to be confident that they would be able to help us more after we got a diagnosis.
I really wasn't sure we were "looking" for a diagnosis. For one, I know a little bit about Genetics and how we may know a lot, but there is still a whole lot we do not know (I actually was planning on getting my masters and becoming a Genetic Counselor before Todd and I got married and started our family). But also I was feeling like there really wasn't anything wrong with my daughter. Well, sort of. I realized that she had a larger than normal head, but to me it was looking normal. And I did realize that she had weak muscle tone, but because I hadn't seen many other babies her age recently, I was beginning to think that she wasn't that behind with her physical development.
Going into the Geneticist appointment, I didn't have any high expectations. When Dr. P came in we talked about Evelyn and all of her symptoms. Dr. P was not aware of one of the symptoms that Evelyn has and therefore felt that everything she was prepared to talk to us about was thrown out the window. She said that she would need to think about Evelyn's case and get back to us. She did give us one possible diagnosis from the top of her head, but she wasn't real confident that it was the right diagnosis.
As I looked at the diagnosis, I knew it didn't fit. It only addressed one of Evelyn's symptoms and neglected all the others. It didn't have anything about hypotonia.
I decided to Google Image some of Evelyn's symptoms. I had gotten to about the third page of images when I saw a picture of a newborn that reminded me exactly of what Evee looked like when she was born. The limbs and body was very floppy looking, the head was a little larger, and the newborn even had a birthmark above her lip much like the one on Evee's face.
I clicked on the picture, which of course didn't have a whole lot of information, except for a name of the syndrome. I googled the syndrome and the results brought up a network site of the syndrome.
I went into the network site and was surprised to see that the picture of a child on the homepage did look somewhat similar to what I would expect Evee to look like in a few years.
I went through the description of the syndrome and was in awe. I had found it! My heart raced faster as I read on and acknowledged the many symptoms that Evelyn has. I couldn't believe it. Here it was. I was so excited, I was so happy. The syndrome is not all good news, but after feeling so left in the dark and having no answers, it felt so good to finally have something I could sink my teeth into. I truly felt the manifestation of "The truth will set you free". I had found out my daughter's diagnosis. Evelyn has M-CM syndrome.
The next business day (since this occurred on a Saturday), I called Dr. P. She informed me that on Friday she was talking with a colleague about Evelyn's case and the thought did cross her mind that Evelyn had M-CM syndrome. I was glad that we were on the same page, and that we both went about our searching objectively.
Evelyn's diagnosis is Macrocephaly - Capillary Malformation (M-CM) Syndrome. It was first described in 1997, so it is a rather "new" syndrome and of course there is not a whole lot of information known about it. But from what we do know, it is a good fit for Evelyn, a good description of all the manifestations she has.
M-CM is a multiple malformation syndrome causing body and head overgrowth and abnormalities of the skin, vascular system, brain and limbs. It is very rare, only about 130 recorded cases in the WORLD. It is a post-zygotic mosaic mutation, meaning it is a mutation on the DNA after conception; therefore there are a lot of varieties of expression of the symptoms. Not all people with M-CM have all of the symptoms, but rather a different combination of the many symptoms.
The manifestations of the symptoms that they do have also are varied. The muscle tone (hypotonia), which many of the M-CM patients have, can be anywhere on the spectrum. There are some children that walk around 15 months and there are some that are never able to walk. Unfortunately there is no way of knowing where Evelyn is on the spectrum as of yet, and no way of knowing how severe the syndrome will be affecting her life.
How am I doing with all of this?
Well, I am not sure. I am happy to finally know, but then of course I am concerned. There are moments when I am totally fine with things, then others that I feel very emotional and overwhelmed. It really has not helped that our life is in no way back to "normal", but I guess we are living the "new normal". I keep hoping that Evee's doctor appointments will slow down, and I think they're going to, but then again she had 2 appointments last week, 3 this week, and 2 next week. All I have to say is that I am incredibly grateful for "Saint Dorothy" who set up this system where I email her the times and dates of the appointments and she emails that information out to people who want/are willing to help out, then they reply to Dorothy if they would be available to watch my 4 boys during the appointments. After having to call around to ask for help and even taking all four boys to a few appointments, I am so grateful for this system. It helps me out so much and I am so touched by the service and support offered by these friends and angels.
We haven't told a lot of people about Evee's diagnosis as of yet, mainly because we just recently found out. We also needed a little bit of time to process it ourselves, to come to grips with it (even though this is something we are going to have to do time and time again as we go on this journey). But also it is something difficult to bring up. "Hey, my kid has a genetic syndrome"......I don't know, it just does not roll off your tongue like that. Honestly I feel like the blog may be one of the easier places to "tell" people. I'm not against talking to people about it, it's just really I am not sure of what to say. There isn't a whole lot of information and I'm still trying to understand it a little more as well. But I do hope that people are not afraid to talk to me about it or ask me questions. I just may not have a lot of answers.
The thing that does bring me joy through all of this is that people with this syndrome are usually described as happy, social, and playful. That is exactly what Evee is, and really, wouldn't it be great if we were all more like that?
For more information on M-CM visit m-cm.net
