Yep. c.814C>T. This is Madeline’s “mutation.” It has a name. It has a location. It has a meaning. An awfully long story short (and whittled down to its barest bones), one of M’s “Cs” in her DNA sequence turned to a “T.” DNA is made of four nucleotides: G, A, T, and C. On M’s DCX gene, on one of her X chromosomes, one of her little “C” nucleotide turned into a “T” nucleotide, which caused a “shortened protein” or “stop codon” (to be very specific, it caused the p.ARg272Stop to form instead of another protein). Instead of continuing the DNA replication process, Madeline’s little ribosome stopped coding. It left her with a mutation on one of her X chromosomes, which caused her double cortex syndrome. Had the mutation been present in both of her X chromosomes, she most likely would not be here today. Because she has that “backup copy” of her DCX gene (on the non-affected X), she has subcortical band heterotopia.
The Wednesday before Thanksgiving, I spent quite a few hours in the car and waiting around the children’s hospital to learn this little tidbit of information. We are very fortunate to know precisely, with as much certainty as the field of medicine allows, why Madeline is the way she is. The likelihood of me being a carrier is negligible. The doctor’s favorite theory, which will never be entirely ruled in or out, is that I have what’s called “germline mosaicism.” That a percentage of my eggs carry this mutated gene. The only way to know for sure is to test every single last one of my eggs, which is not going to happen. For future pregnancies, we will submit to genetic testing in the first trimester to know if the mutation is present or not. If I do have germline mosaicism, the mutation will always be the same—c.814C>T. It will never look any different. That way, at least, the doctors know exactly where to look. Blessing and a curse, amiright?! There are many families in our group that never find out the cause or reason why their little ones were created extra special.
It has been a while since I last blogged and it seems as if Madeline is an almost completely different baby. She has grown in leaps and bounds! At the beginning of the summer, Madeline was hardly able to maintain balance; did not make eye contact; did not engage socially; rarely, if ever, reached for toys; and was basically a hollow shell of her former self. Here she is in late May (this was her 3rd or 4th week of therapy):
Here she is just last Friday—bookin’ it! Madeline has been attending therapy 3-4 times a week, most weeks, since April. Whenever she’s not feeling it, or has a conflicting appointment, we let her take a week off. Her therapists recommend a break every now and again, too. When therapy is no longer fun, it’s no longer productive.
Here is a list of a few things that Mads is doing:
- She is smiling and giggling socially! She used to only smile or giggle when being tickled, or whenever we went out of our way to get a giggle out of her. Now, she smiles whenever she sees us, whenever she views something as amusing, when she wakes in the morning, whenever she sees her favorite toys. She responds to smiles with smiles. (And she also resumed her role as “destructo-baby” at the GI doctor).
- She is eating so much better and more often. Transitioning to solids has been a long and arduous road. With a little persistence on my part (and on Mad’s part), she is eating three meals a day with bottles in between to tide off hunger. She is eating “big people food,” too. I find I spend quite a bit of my time sitting on the floor in our living room. It’s where Mads plays and does her thing. I usually eat my meals there, too (shh, don’t tell my mom!). Madeline, upon smelling my food, or upon seeing me in her zone, will somehow always come cozy up to me and beg for food. If I’m not looking, I will eventually feel the softest of little baby hands on my thigh. I look down, and there she is. Mouth open waiting for a taste of the good stuff. The other day, she ended up eating half of my pizza!
- She loves the baby in the mirror again. She used to flirt and flirt and flirt with her reflection (ages 3-6 months). It wasn’t until recently that she has picked it up again. Her therapy rooms are covered in wall-to-wall mirrors. Sometimes, they are counterproductive. :)
- She is in the beginning stages of pulling up!
There are times when I look in my rearview mirror and see my beautiful baby girl staring right back at me—she has her blanket in her mouth and one sock nearly pulled off—she’s in her own little world.
It is in the moments of “typical” that I feel most blessed. If Madeline were just like everyone else, and was not faced with such challenges, I am sure I would have taken a normal life for granted. In some of my darker moments, I felt robbed; robbed of the promising journey a new mom is supposed to have with her firstborn. Through this adventure called life, I have learned that there are no guarantees. No one is promised tomorrow and no one is promised “normal.” Looking back, knowing what I do now, I am certain I would not change a thing.
(except maybe the hospital and medical bills —- ouch!)