Someday I will sleep again, right?

I think I must just accept that I will probably never have a good night's sleep again. I used to be able to count the number of nights I had a bad sleep, and now I can count on one hand the number of nights I've had a good sleep in probably the last 2 months. I wish I could turn my brain off at night - I just worry, worry and worry some more. It's probably also a mix of being 8 months pregnant, but I lie in bed and worry about my little E and her future. And I worry about my new little one about to enter the world. I guess it's a natural part of becoming a parent - you know you are going to worry the rest of your life, but now it just feels so amplified. Amplified because of what I think and fear about little E's future. All the parents of little people I have met tell me that the fears are unfounded and that my child will amaze me and make me realize many years later I wasted all this time worrying. And goodness I hope that is true of course, but it just does not make it possible for me to wipe out all the worry. And I know it will be true - her personality is just so incredible, and each day she is becoming a smarter, more confident, funny and outgoing person. I, and all those around her, continue to be amazed each day by her achievements.

I must tell my little E on a daily basis (even though she has no idea what I'm talking about) that she is giving mommy more and more gray hairs every day. But you know what? I'll take the gray hairs just to be given the chance that I have to be her mommy. I love her more than words can describe so I'm so thankful she has been given to me. I'm thankful to be given the chance to be her mommy and do everything I can to give her a great, happy and fulfilling life. I'll keep my tossing and turning, worry-filled nights to myself and keep my smiles for her during the day. Yes, I have hugged her tight, letting the tears stream down my face so she can't see them many times in the past 2 months or so, but I think that's OK. I am trying my hardest to be strong for her - and I am for the most part, but there are minutes or hours that are still very hard. And often they are the moments at 2am or 4am when I stare at the ceiling with my eyes wide open. Wondering if I'll ever sleep again.

I am very anxious for our appointment with Dr. Pauli in Madison this Thursday. A little anxious and nervous, but really looking forward to learning more from him and having such an expert examine my little one and be a part of her team. That is all we are trying to do, is establish the best team around her that we can to ensure she excels beyond our wildest dreams. And she will.

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.

What a day

What. A. Day. So we had our appointment down at Children's Memorial today with the head of Genetics and the head of Orthopedic Surgery. We were really hoping to leave there with answers, at least the best we could get. Unfortunately the x-rays they got from our previous dr. visit were not clear enough for them to diagnose the specific type of metaphyseal chondrodysplasia that little E has. So yes, she does for sure have this, just not sure what type. A tiny little part of me (well, probably a lot of me) was hoping that we'd get there and they'd say 'oh, that x-ray reading was not right, she does not have this'. So it was definitely a blow to hear that it is real and she has this. After meeting with the doctors we were sent to get a new skeletal survey done of her in the x-ray department.

First we met with the geneticist. He did a full physical exam on her, and did not really seem to see anything outside of her elbows (the contractures - they don't extend all the way). Everything else seemed healthy and normal. I asked him if he thought surgery would be likely in her future and his guess was yes, at some point she would likely need some surgery to address an orthopedic problem.  But said that many of them are quite simple now and typical surgeries to do. We of course talked about her height and really there's not a clear answer there and I don't think will be as noone can tell the future. Once we have the specific type identified (hopefully on Monday) they can give us a general range, which of course won't be helpful either. Perhaps something like 4' 3" to 5' 3". Obviously a big range that can mean very different things. So we will have to accept that and move on, she will be what she will be.

Then we met with Dr. Sarwarck, the orthopedist. He seemed a lot more comforting to us. He also did a full exam and did not see any issues outside of her elbows right now. His 'guess' was that she may go through life without needing any surgeries. He said seeing her right now, he figured that may be the case. He kept saying likely this is an 'academic' case, I think meaning that the condition exists inside her body and there is not a ton to see or speak of in her clinical evaluation and physical being. Which I think is meant to be a good thing. It's just we hope it continues this way and that her bones continue to grow as proper as they can.

Also, we talked about her height. Right now (at least at her 2 year appt) she's at the 17% of height. He said that often kids at this point will follow the curve they are on. So there is a chance she could follow that 17%-ish curve. Which is obviously quite normal. But again, who knows, she may not. So we cannot let ourselves hope for that I don't think. I hate even sounding like I'm focusing on the height things here, b/c I'm not. I will love little E to pieces no matter what height she is. What does that matter to me? It's just for her. As a parent, I want her to have the most 'normalcy' she can have and don't want her to go through any more hardships than needed.

So here we are, now waiting likely until Monday to get a call from the genetic counselor who will advise us what came of the x-ray readings. Many of these dysplasia's have a blood test that will allow for genetic testing, though some will not. So if it is id'd to be a type that we can do the blood test, we'll do that for a full confirmation. I am just praying now that it is a form that does not carry alot of additional health risks along with it. Seems alot more comforting if we will know we will likely just need to handle/manage orthopedic issues.

At this point, I think we are in an acceptance phase, where I am going to need to work through the 'why us and why my child' phase. This is so incredibly rare and I am just having such a hard time getting my head and arms around this, how in the world could my little pumpkin be affected with this? She is so perfect and wonderful. But she still is perfect and always will be. Nothing will change that. It's just a LOT to get my head around right now. So overwhelming.

I think her little sister will be arriving at just the right time in a few months to bring some sunshine to all of us and get our minds in the right direction. She is going to be such a blessing and I can't wait for my little munchkins to start their sisterly bond.

So that is all for now...we will see what the results bring and our journey will continue.

Trying to understand

We are still not even a week out of our official diagnosis with little E but I am just struggling. I can't sleep, I can't focus, I can't stop worrying. Though I need to stop all this for the sake of my beautiful baby in my tummy. I am sitting here reading the blog I found of a mom who has a son with metaphyseal chondrodysplasia, schmid type, and just getting overwhelmed for many reasons.

One, because I am reading so many similarities of what I have seen with E this past year. We have been questioning/worrying about her walking since she was about 18 months. She didn't start until 15 months but just never seemed to 'get it right' and just have this waddling about her, and even the way her toes touched the ground seemed off. And she is starting to 'run' a little but it's just nowhere near the other running 2 year olds I see. She also still gets on her belly and scoots down the stairs, which I also don't see these kids doing. She has always just been so s-l-o-w. Just thought and assumed she is just a cautious person still workign on her walking confidence. And I never worried b/c I kept telling myself not to compare, as that is always the advice given to moms. But now I am looking back and all of these things are pointing to this disorder. Also how every time she fell (and even still sometimes) she lands face/head first. Likely because she just can't get her arms out and her head is disproportionately large to her body.

It's just, who knew? Who could ever suspect she has something so rare that affects only 200,000 people? I mean, really, what are the chances? I am just still feeling so sad and worried about the future. Not for me, not for my husband, but for my little E, and how the outside world will treat her. I know we will provide the best medical care we can for her, but it's the social part of this that is worrying me to no end. All parents worry about their children getting teased, and to add in a potentially socially unnacceptable trait, who can even imagine what will happen. I just want to shelter her from the world already and she's only 2. I have a lifetime of learning here now. This is going to be quite a long road. I just want my baby to be OK and be 'normal'. But I need to accept we may have a new 'normal' in this house.

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.