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.
