I'm going to start by saying the 10 hour drive was split in two days, and my boy was absolutely AMAZING in the car! He only had one brief fussy episode, about 6 hours into the drive on the first day (and I'll admit, I think I was getting just as fussy as a 7 month pregnant chick!) We just needed to get out! But I am so very proud of how well he did for an almost two year old...that's a long trip! Now onto more important details...Tuesday morning. I awoke at 5:30 am, without the need for an alarm - it had been a restless night for me, for good reason. We all got up and ready to start this long-awaited day, and were picked up at 7:15am from the hotel by the Shriners Hospital personal transport service. The four minute drive was jam-packed with anxiety for me (and Cyle as well I'm sure) as well as excitement that the day was finally here. We were the first to arrive at the hospital for our 7:30 appointment, however it wasn't until about 8am that employees started to make their way into the Clinic and start the ball rolling. I promptly took a number, like at the deli in a grocery store, the minute other children and their families started to arrive. Townsend Wilkinson was the first child called to be registered, then sent to Room 8 (the Penguin room). Rooms were assigned with an animal, largely painted on the exterior door as well as the wall inside the room, to create a child-friendly, and less sterile experience for the kids. We did height and weight measurements, and met the nurses we'd be working with throughout the morning. Then would come a urine test, bloodwork, and a bone density scan. We placed cotton balls in Cayden's diaper to absorb urine for the test, then prepared for blood to be taken. Cyle had to step out (which I knew prior to the trip - he does not do well with harm being done to his boy, and might become a little unfriendly if more than one poke was necessary!) With the help of a Child Life Specialist, toys and bubbles, Cayden handled the two pokes as well as could be expected, and I tried to be as patient as I could be also - with blood draws in children being such a big part of what I do for a living, part of me wanted to grab that needle from her and do it more successfully myself, but I knew I couldn't do that. So I took care of and loved on my baby boy instead and tried to keep my focus on him. After two pokes and "hopefully" having enough blood to complete the tests, we were swiftly moved to the next area, radiology, to have the bone density scan completed. Being pregnant, I was unable to go into the radiology room, but Daddy and Meme took care of Cayden, and the test was done before I knew it. We sat and played with new toys and new friends until we were called into Room 9, the Duckie room, to meet with one of Dr. Rauch's Fellows...
This woman, a physician working under/with Dr.Rauch (and I hate that I cannot seem to remember her name for the life of me...I guess there was too much running through my head when she introduced herself to us), was amazing with both us and Cayden. She was so friendly and had a calming nature about her, and I felt very comfortable then discussing Cayden's entire past history...from the ultrasound diagnosis of club foot, his dental and genetics history, to all of his past fractures. I had typed out a paper with his medical history from birth, and referred to this to ensure that I forgot nothing. This chance was a once in a lifetime, and I wasn't going to get anything wrong if I could help it! After this discussion, she thoroughly checked out my boy; she played games with him, checked his head circumference (big!), listened to his heart and lungs for any abnormalities, and played with his every joint. Cayden was a trooper. He usually isn't such a big fan of doctor visits, but she sure had a way with him, and the assessment was quickly over. She then gave us the results of his bone density scan...and we learned that our son, just shy of 23 months old, has the bone density of an average six month old baby. We spoke of the many markers and characteristics that Cayden visibly had on assessment that coincided with Osteogenesis Imperfecta, however there were a few more tests that she recommended we complete prior to meeting with the renowned Dr. Rauch himself. So far, we knew that Cayden had the following, all of which are characteristic to the disorder: Blue sclerae; joint laxity; tooth discoloration; fractures caused by relatively minimal trauma. She sent us back to radiology (where they were ready for him before we even made the short walk into the room) for x-rays of his spine and skull. We were told that children with OI can sometimes have compression fractures within the spine, which can attribute to short stature, growth retardation, and difficulty walking. There are also tell-tale signs within the bones of the skull that are characteristic of OI as well. So daddy and Cayden headed back in to have those pictures taken, while Meme and I waited...patiently.
As we were waiting, I saw Dr. Rauch enter the Clinic. We had researched his photo online prior to the trip, so I knew just who he was when I saw him. He spoke at the nurses station with his Fellow, and when Cayden's x-rays were complete, we were called back into the Duck Room to officially meet him. He introduced himself, and shook our hands, and met my son. With a quick look at Cayden, his eyes, teeth, joints and bones, he made the statement that he was able to officially "clinically diagnose Townsend with Osteogenesis Imperfecta." He stated that he had OI type I, the most common type.
It took only a matter of minutes for this man, who has done more research than most in the world regarding this disorder, for him to pierce our ears and hearts with this news. We knew, deep down that this was a very real possibility, given Cayden's history, but the words still created a whirlwind of emotions within us all. We were immediately relieved that there is, in fact, a good reason for his past fractures and joint instability; We were happy to hear that there were treatment options, and that we were in the care of the best physicians possible to handle this disorder; We were excited to hear that Cayden is of average height for his age, and that this would mean a relatively good prognosis at this point, because his stature and spinal column haven't been affected at this point. I tried my best to keep my thoughts and emotions positive at this point, it wasn't til later, when we settled in back at home that the negatives came over me...more on that later. We continued to discuss x-ray findings, which included what are called Wormean bones found in the back of Cayden's skull, which are also almost solely found with this disorder. One more check mark on the list of signs pointing to a positive diagnosis of OI. We spoke about how genetic testing isn't always 100%, and were told that regardless of bloodwork results, we could be assured that OI is the proper diagnosis. We discussed treatment, which includes Bisphosphonate injections every six months, to be continued until Cayden's growing years are complete. However, Dr. Rauch stated that given the relatively mild severity of the disorder in this case, it would be best to wait one year and return to Shriners to be seen again, and to repeat all testing to determine if Cayden's bone density improves at all on its own with increased activity. We were told to call if he experiences more fractures within that years time, and at that point would return to discuss beginning treatment. Dr. Rauch did request that we return one more time to radiology, to x-ray Cayden's hips and lower extremities; he stated that he has often seen children born with club foot also have hip problems, which might be affecting Cayden's ability to walk. So we went. And his hips looked normal. We concluded our trip with a lengthy conversation with Dr. Rauch and his Fellow about future plans, pros and cons of treatment, Cayden's prognosis, and made plans to return next June. He also recommended physical therapy for Cayden at home, to strengthen his muscles and joints, in order to get him steadily up in his feet. The more weight he bears on his bones, the more likely he is to begin increasing in bone density on his own, without the use of treatment. so that's the plan...And we left feeling a sense of relief, and a peace of mind that was long awaited.
We made it back home on Wednesday afternoon, and Cayden and I proceeded to take a good, long nap. We were all exhausted, in every sense of the word. When I woke up, I woke Cayden, and we proceeded to play play play. Cyle and I found ourselves loving on him even more than we usually do (which is quite a bit), and giving him a whole lot of kisses. Later, it was bedtime for him...and I found it hard to put him to sleep. After many more kisses, and some tears, I turned off the lights, closed the door and went out to the couch. Cyle was making me a nice dinner out on the grill. I sat on the couch and cried. Cyle came in and asked me what I was thinking, and we had a nice long talk, and some more tears. Cayden can handle broken bones, this he's proven to us. And we as parents can handle it too...we have done it, we've been there. The part I never really believed, or accepted, or even thought about prior to this trip is the thought that Cayden will have to endure this pain, this disorder, for the rest of his life. My son has a disorder. A diagnosis. And it kills me, as a mother, to think that he will maybe one day pass this onto his children. Cyle is very good about focusing on the positives, and redirecting me away from the negatives. It could be so much worse. To see some of the children that we saw at the hospital...it could be so much worse. Cayden has the personality to get him (and us) through absolutely anything, and I am truly thankful everyday that we are so lucky.
So for now, that's it. I'm tired and worn out, but still thankful and hopeful. I'm sure I will come up with more to tell once our minds and hearts are fully wrapped around all of the information we've received. Thanks so much for reading, and caring and giving all of the support that each of you have given us...we could never thank everyone enough. xoxo
To read more about this disorder, go here to the OI Foundation website: http://www.oif.org/
My baby boy holds more than my hand, he holds my entire heart.
P.S. - We were also sure to inquire some information from the good doctor about the possibility of Little Miss Mya being affected by the disorder. Dr. Rauch took a look at Cyle and I, and determined that neither one of us has OI, and that he was sure that Cayden was affected solely due to spontaneous mutation of genes, and that Mya would have less than 2% chance of having the same gene mutation. Whew! :-)