So I guess the beginning of our journey with Little E began yesterday, January 19. It was her first appointment to see an orthopedist. A few weeks prior, my sister in law asked me if I had ever noticed that Little E's arms did not fully extend, from the elbows. I said gosh I have not, but sure enough she was right, the arms just did not extend. Not super worried, I figured I would bring it up at her upcoming 2 year check-up. I mentioned it to the pediatrician and he immediately apologized for not noticing it sooner. But he assured us it likely was not a big deal, probably tight tendons that perhaps PT could help with. He was to consult with his orthopedist and call us back with a plan.
We were told to go see the orthopedist, that it could also be a possible bone fusion in the elbow that happens in utero. Ok, sounded a little scary but not seeming a big deal - something easy to live with, she's been developing fine now. So two weeks went by before our appointment with the orthopedist.
I went with my mom, which also happened to be on the 4 year 'anniversary' of her brain aneurysm. Seems January 19 seems to be a big medical day in our family. They took x-rays of Little E's arms, and the doctor came into look. His first statement changed everything and made my heart drop. He said he did not only see a problem in her elbows, but there was a deformity in her wrists as well so he needed to see x-rays of her entire body to see if this was a problem throughout. What he hell was he talking about? What could be wrong with my perfect baby's body and bones?? She is just perfect.
So my mom had to take her in for more x-rays (I am 7 months pregnant) and the doctor came back into look at the images. I just could not even imagine he would have next said that it seems she has a genetic skeletal disease- a form of dysplasia. He described how there is a curvature at each of her joints and overall short limbs. He wrote down the name of what he believes she has - metaphyseal chondrodysplasia. Possible the Schmid type or McKusick type. Then he went on how we need to talk now to a genetic counselor to confirm this diagnosis. My head was swimming -how does my perfect little child have a genetic disorder that we have not known about?? How could something be wrong with her? what does this mean? He talked about a short stature -what does he mean? Will she be 3 feet tall? 4 feet? He seem to think it would be more like 5 feet, but I don't know that he knows. He's not a specialist in these genetic disorders.
Oh this was all just so overwhelming. Then I had to get in the car and call my husband and try and explain this. I brought her in to have her stinking elbows looked at and left with a genetic disorder diagnoses that may, no, will, affect the rest of her life. And potentially her future children's lives!!
I am still a little in shock by all this. I tried to stay away from the computer and Googling everything I can, but turns out there is not even that much out there on the topic. I found some articles and a blog that has intrigued me. I just want to find other parents who are or have gone through this. I am awaiting a call on Monday for an appointment at Children's Memorial in Chicago to hopefully meet with a skeletal dysplasia team, who also works with their head of the genetics department. All I know is that we want to do the BEST we can for our baby and do whatever we can to help her.
What I hate is that now I feel like I am looking at her different. Like I am noticing her waddling when walking, seeing that her arms seems short, her thigh bones seem short. But I didnt think this or notice before! It makes me mad that these words have changed the way I am seeing her but I think this will fade. This news and diagnosis is new, we'll have a lifetime to be dealing with this. All I know she is is one freaking amazing, super smart and loving child and nothing will ever change that. I love her with my entire heart and soul and that will remain forever.
Today when I was putting her down for bed, I started telling her how much I love her and how I will always take care of her and do my best to make her life happy and normal, and I started crying. The little angel saw I was crying and said "it's ok, mommy", and squeezed her arms around my neck and hugged me so hard. she kept saying 'it's ok mommy' and hugging me and that was making me smile and cry even harder! She took my face in both her hands and said 'feel better'. Oh I was about to die - she is so incredible. Sometimes I think she's this old soul in a two year old's body.
So to be continued, hopefully we will have an appointment soon to get some answers and confirmations on this diagnosis. I think, I hope, I will feel better after having more details and a diagnosis. I just want an action plan to know we're doing what is right to help her.
No comments:
Post a Comment