Here we are...weeks later

So here we are, nearing the end of February. E has been diagnosed by Children's Memorial with pseudoachondroplasia, a rare form of dwarfism occurring in about 1 in 30,000-60,000 births. This news has been quite a shocker and a lot to take in.  For the first few weeks after hearing this diagnosis, I did not think I would stop crying and did not think the dark days and nights would end. I am in a much better place than I was on January 27 and the week following. Not saying the dark moments are going - plenty of days and nights are still filled with tears, worry and sleeplessness. I have faith that even those this may not ever end, it will get easier and be less intense. At least that is what other parents who have gone through this tell me. I guess I have to take their word at this point.

I think I have read every single article out there available on the internet and in medical journals, so I am working hard to put that to rest for now. I think all the reading and obsessing is partly what's contributing to my not sleeping (oh and maybe me being 8 months pregnant helps too). But I think I know all I can about this for the time being. We are lucky enough to be heading to see Dr. Richard Pauli at the University of Wisconsin Madison in March. He is supposed to be THE best in this area, he sits on the Little People of America medical board and is an expert in dwarfism. He has been following individuals throughout their whole lives. Most people I have connected with in the Midwest, whether parents of little people or individuals with dwarfism have seen Dr. Pauli before, if not as their regular doctor. Everyone assures me he will give us comfort as E's parents and shed lots of light as to what to expect.

Luckily her diagnosis does not bring a slew of health problems and illness, outside of joint and bone issues that will come her way. Likely through her growing years she'll need to have one, if not more, surgeries to straighten her legs (they are OK for now) and a total hip replacement will likely be in her future in her 20s or 30s. I am so thankful to have the smartest, funniest and most loving little girl as my daughter and we will do everything we can to help her throughout her life to make things as easy and as 'normal' as we can.

We know we are now in Holland, and are happy to be here. Life will move on, life will be beautiful and I am so intensely thankful and blessed to have my family. Words cannot express the love I feel for my daughters, husband, parents, in-laws, siblings, everyone around us. I know my little one is so strong, she is something special. I have always thought that about her. Ever since being born on Christmas Day, I just had a feeling there was going to be something special in her life. I did not think this would be it, and not sure I'm ok with this being it yet, but I know that she will shine because of this. She touches everyone she meets and just emits a love and happiness around her. She will be loved and cherished by many, no matter how tall or short she is.

The journey begins

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.