Some answers

Dear Marley,

This should be the last letter that deals with the past. Next time we will be caught up to all the cute and amazing things you are doing in the present. But for now I figured we should catch your readers up on all the things we've found out about your body ( I won't say about you because you are so much more than your physical body ) .

So after the weekend in Dallas we headed back down to Austin for a followup appointment with your Opthamologist ( Dr. SeeGood) . Once again we had to dilate your eyes and wait a long time except this time your daddy and your two sisters were with us. Your sisters do not love waiting in Dr's offices. They are awesome girls but boy can they be a pain in the butt when they are cooped up.

Anyway after Dr. SeeGood looked in your eyes again she decided that your cataracts had already gotten worse in just a week. At that point she said that we should schedule the surgery for the end of March. I was alot less upset this time and able to ask some informed questions that made me more comfortable with what was going to happen. She also told us that she doesn't implant permanent lenses in infants so we would be putting contacts in your eyes at least until you are 2. With as much as you love eye drops I can totally see how easy that's going to be. ***insert sarcastic eye roll here***

After your eye appointment your daddy had to leave for California again and we were all pretty sad to drop him off at the airport. We headed back to Fredericksburg after that hoping to get back into a normal rhythm.

Unfortunately normal doesn't really seem to happen for us lately. On Wed of that week I got a call from Dr. Smarty's office. They had received some results of blood work back and they needed to do some further testing on you. They wanted us to be in Austin that afternoon. We quickly dropped your sisters off with the Bushes and headed over.

When we got to the office they took us back to a room and handed me a folder of paperwork. While the assistant stepped out to check on something I opened up the folder . In the folder was an article that they had searched out and printed from Google. (If you're wondering how I know this you should just ask your Dad why he calls me Dr. Google).

At the top of the article were the words Rhizomelic Chondrodysplasia Punctata. I had bookmarked this article about 3 weeks before. I had probably read it 100 times already. Looking back I think I had read it so many times because I needed to convince myself that out of the few things your illness might be this was absolutely not one of them.

At this point was where the appointment all went south. I had been under the impression that they wanted to do further testing on you because they still had no idea what was wrong with you. Well as it turned out the lab work that they had received back actually told them what you had and they just wanted to do further testing to confirm it.

So in a not very gentle or kind way Dr. NotsoSmarty informed me that you did indeed have Rhizomelic Chondrodysplasia Punctata (RCDP) . Her idea of helpful information ( besides the packet from google) was to give me information on Opiates and Hospice. Not so helpful really. I don't know if I have ever been so angry as I was leaving her office that day. Who was she to be telling me that you need opiates or hospice. I knew she was absolutely without a doubt 1 billion percent wrong and I was going to prove it .

That night after we got home I got everyone to bed and starting using my google magic. It was at that point that I found www.rhizokids.com . I had seen the site before but had never really looked at it in depth. As I was looking at the site again I happened to see something that said "buy tickets" I clicked on the link and was looking at a ticket for a benefit for RCDP kids that was happening in Strongsville, Ohio. The city that your dad is from! How crazy is that?!?! After I saw that I looked up the family that was organizing the benefit and wrote down their number. I figured who better to hear about this disorder from than someone who is living it.

The next day I called Mindy Cirner. Her two kids Jake and Jordyn both have RCDP. She was amazing to talk to. She gave me hope which was something I felt like Dr. NotsoSmarty had totally tried to take away. She also gave me what so far has been the most important weapon in our arsenal . The direct number to Dr. Nancy Braverman.

Dr. Braverman is an expert on RCDP and she was able to look at your lab work and tell me more or less what we can expect in terms of the severity of your RCDP. She spent a long time talking to me on the phone and also a long time talking to Dr. Awesome. She is an amazing woman and I am so grateful that she is on our team.

So that pretty much brings us up to now. Last week you had your first cataract surgery combined with an MRI. The cataract surgery went great. We pink puffy heart love Dr. SeeGood.

Unfortunately the MRI didn't bring such great news. You appear to have Cervical Stenosis which is a fancy way of saying that your spinal column is really narrow at your neck. There just isn't alot of room in the column for your spinal cord. So far fortunately it doesn't seem to be affecting you at all. You also have a spot in the parietal lobe of your brain where it looks as if you may have had a stroke at some point before you were born. With all of this information though comes a new favorite Dr. He is a neurosurgeon and he said that the physical findings on the MRI do not determine who you will be or how you might be affected. Which of course is something that we already know but it sure is good to hear a brain surgeon confirm it.

As for how you are today. You are quick to smile and blow raspberries for us and you are almost laughing! The pain in your arms and shoulders is so much better. You constantly have your hands in your mouth and have been almost able to pull your eye patch off. You already love your sisters and have such a sweet sweet personality. You love to cuddle and you sleep up to 8 hours at night in your own bed. Neither of your sisters did that this early by the way. In fact most mornings we still wake up to them having snuck into our bed in the middle of the night.

You put a smile on the face of everyone you meet and we are so excited to see what the future will hold for you. I would do anything in my power to take the pain of this illness away from you and I know we have a long road ahead of us but I am so grateful that you are in our lives and I look forward to how all of us are going to be changed for the better because of you.

Cataract surgery number 2 here we come on Thursday.

Love,
mom

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....

The beginning

Dear Marley,

It's hard to believe that in 2 days you will be 3 months old. The last 3 months have absolutely flown by.

Actually my whole pregnancy with you flew by. I'm sure that was mostly due to the energy that it takes to keep up with your crazy sisters. It seemed like I got a positive pregnancy test and the next week you were already here. We were so worried that you were going to follow in your sisters footsteps and have to go to the NICU and were so relieved when you didn't.

Our first day with you was amazing. We got to keep you in the room with us and it was perfect.
Later on as your nurse was checking your vital signs she thought maybe your reflexes in your right hand and arm weren't so great. Your pediatrician, Dr. Awesome ( your knight in shining armor even though you don't know it yet) decided to order an x-ray of your collar bone to make sure it hadn't been broken during your delivery. This was our first indication that anything could be wrong with you. We got the results back shortly though and it showed that your collar bone was fine. We just figured that it was a soreness that would quickly be gone.
So approx 24 hours after you were born we took you home. You truly have been the perfect baby from day one. You ate, slept and pooped right on schedule. You did have a little bit of jaundice and we had to use a bili blanket for 2 days but other than that we had an excellent first week.

When you were a little over a week old we took you to back to Doctor and had you weighed and measured and checked over. You looked great. You had gained a few ounces and grown about half an inch. Dr Awesome came in and looked in your eyes and ears and we talked about how perfect you looked. The next moments though will be in my mind and heart forever.

Dr. Awesome had picked you up and was cradling you in her arms and she said that the Radiologist had seen something strange on the x-rays. She said he had seen something in your joints that looked like little dots. It was apparently so rare that the only time he had ever seen it previously was when he took his boards. At that point he thought it might be indicative of something called Conradi Hunnerman disease.

Needless to say I was pretty shocked and a little teary. Dr. Awesome took you and I into her office and explained that from what she had been able to find out about Conradi it seemed as though you could have a mild case and that it that might include cataracts and little else. She also thought that it would probably be a good idea for us to go ahead and get a full body x-ray to confirm their suspicions. So off we went for the first of many diagnostic tests you would have to be subjected to.

We got the results back from that x-ray the same day and it indeed confirmed that the stippling was widespread throughout all your joints. While we were waiting for those results I googled Conradi on my phone and what I read was actually comforting. I looked at the rest of the signs of Conradi and thought well you don't have any of those, so this will just be something minor that we might have to list when filling out paperwork. Surely it won't be anything that will effect you on a daily basis or for the rest of your life...

To be continued....