Part 2

Dear Marley,

So after that x-ray we decided that to be on the safe side we should probably make an appt with a geneticist and an appt with Scottish Rite Hospital in Dallas.

The appt with the geneticist ( we'll call her Dr.Smarty) was very early in the morning so we decided to stay in a hotel the night before. Your Mamaw decided that she would go with us to help out with your big sisters and it was a good thing she did.

The morning of the appt we all woke up very early in the morning and just as we were getting ready to leave the hotel Rory threw up. I managed to catch most of it and we thought maybe she was just coughing and that made her throw up. Anyway we quickly cleaned up and headed to the hospital.

We got to Dr. Smarty's office and were shown back to a consultation room. It was a pretty comfortable room with a couch and lots of toys. After we had been in there for about 15 minutes though Rory threw up all over the floor. This really wasn't the kind of Dr's office that's okay with puke on their nice rug. Again we quickly cleaned it up and Mamaw and Rory went for a walk.

Next up was meeting Dr. Smarty. She came in and asked your dad and I lots and lots of questions about our family history. Your dad got pretty offended when she told him he looked like a dwarf ( well that's not exactly what she said but it sounded like it to him). She also sent us to the lab and to radiology for even more tests.

I asked her about Conradi syndrome and she quickly said it was way to early to be asking her about anything specific. We wouldn't know anything until we received the bloodwork back. What we didn't know then was that she already had in her head that you had Rhizomelic Chondrodysplasia Punctata (RCDP) and the blood that they were drawing that day would be specifically to test for that. She also was pretty insistent that we make an appt with an eye doctor to get your eyes checked for cataracts. I was really irritated with this because I thought that there was no way that you could have cataracts this early.

We left the appt that day slightly annoyed with Dr. Smarty and the facility in general but still not too concerned with what your final diagnosis might be.

The week after that appt was one of the worst weeks ever sickness wise for us as a family. Your dad had to go to Los Angeles and New York for work and your sisters and I were on our own for 2 weeks. Rory's little puking episode led to Delaney and I both catching whatever she had on top of having sinus infections. It was truly a miserable miserable 2 weeks.

In the middle of this lovely week of sickness I called to make an appt with the eye dr. I made the call at 11am and they wanted to see you at 1pm . Keep in mind the Dr's office is an hour and a half away. It was a pretty frantic morning to say the least. I had to find somewhere for your sisters to go and get you and I ready and out the door in half an hour. I ended up sending Rory with papaw and Delaney came with you and I.

It was crazy but we made it to the appointment on time. After waiting for 30 minutes for your eyes to dilate the Dr. came in, looked at your eyes for a short time and turned to me and told me you had cataracts. I probably could have been knocked over by a feather at that point. I was so unprepared to hear anything of that sort. I just knew she was going to pronounce you totally healthy. I was having a really difficult time holding it together but I didn't want to cry and have Delaney get all worried. She said we would need to do a followup appointment soon to talk about having them removed.

I think that that appointment was the first time I really realized that we were dealing with something that we wouldn't be able to just sweep under the rug and pretend that it didn't exist.

This was something real and something that could potentially effect you for the rest of your life.
Just to put a cap on how sucky that week was I realized I couldn't tell your dad about the cataracts until he got back from los angeles. He was way too stressed out about work and it just didn't seem like something you tell someone over the phone.

The only bright spot in that week was you. I just kept praying that you wouldn't catch anything and thank God you didn't. You just kept eating and sleeping and growing.

Your appt at Scottish Rite in Dallas was on a Monday and we picked your Dad up at the airport on the way. It was touch and go for awhile as to whether he would be able to go or not. In the end though he came through as he always does. I told him about the cataracts as soon as we picked him up and he was upset but said we should wait until the followup appt before we got too worried.

Scottish Rite was kind of a bust in terms of finding anything out about what you might have. There's nothing like sitting in a room full of specialists and having them tell you they have no idea whats wrong. They did have to take what seemed like a million x-rays. Your dad had a really hard time with that. The pain that you have in your arms and legs really intensifies when they have to tug and pull on you to get the right pictures. It really does suck.

So anyway the rest of the week in Dallas got much better. Your cousin Jadyn's adoption finalization was also that week and we got to celebrate by spending the weekend at Great Wolf Lodge with the whole family. Granted, you didn't care much for the water park but your sisters were enthralled which made my life much easier (for the weekend at least).

More next time....