Kaela's First Appointment with Dr. M

Today was Kaela’s appointment with Dr. William Mackenzie at theNemours/Alfred I. duPont Hospital for Children. This was our first formal appointment with Dr. M. We have seen him twice before at regional and national LPA conventions where specialists like Dr. M donate their time to meet with families of children with dwarfism. Today Kaela had x-rays done and not too much has changed since the last time we had imaging done at the University of Michigan medical center. We did however get a more accurate picture of the next steps we should take and when we should take them.

We have long expected that Kaela would need another series of surgeries to correct the kyphoscoliosis in her back. The only things we were unclear about were when that would take place and what would trigger the decision to start doing it. Our doctors at the U of M have been wonderful and have already pulled off a successful Laminectomy and C-spine fusion on Kaela in February of 2009. Dr. M however has extensive experience with children with Metatropic dysplasia and has been perfecting a method for correcting curvature of the spine.

As of this appointment, Kaela could have her surgery when it is most convenient for our family and in the near future. The curvature in her spine has reached over 90 degrees which is about the point when these kids have the corrective procedure. The entire process takes at least two months so we will need to begin it during a time when Kaela will not be in school. We are thinking that next summer may be a good time to get it done which will be a good time for our family as well as good timing before her condition worsens to a point where she can’t get around as well.

Another great part of this trip is that we got to connect with other families that my wife and I have been in contact with over social media. We are very lucky to have these channels to connect with families who are going through the same experiences we are and that have children with such a rare condition. We met these families for the first time yesterday and it already felt like we knew them because of the relationship that was cultivated over the internet.

Overall we have had a very good experience here at the DuPont hospital. It was far better than I ever expected it to be. Dr. Mackenzie, Chris from hospital PR and Colleen, Dr. M’s nurse were all extremely accommodating. They even planned a pizza party in one of their conference rooms for all the MD families. Chris from PR contacted the local NBC affiliate to do a story on all the MD’s that were in one place at one time. Even though there were only 6, when there are only 90 sum cases in the world, 6 is a big deal. The local news couldn’t find a way to make it work although there may still be some stories in the works as well as something on the hospital’s social networking accounts. Dr. M and Colleen are pictured below with all the MD kids that attended.

Our first trip to Delaware

Sarah, the kids and I have begun our trip to Delaware to see Dr. M. We just finished driving about 5 hours and are somewhere in Pennsylvania. We decided to start looking for a hotel around 11 pm only to find out that at this time of year in this part of the country, finding a hotel room is next to impossible. The kids kept asking if we are at the hospital yet. After driving an extra 100 miles we found a pretty decent Hampton Inn with two rooms left. A bit pricey at 140 bucks a night but beggars can't be choosers.

Tomorrow we will make the final trip into Wilmington. We can't wait to see all of the families that we have been in contact with online over the past couple of years. It will be fun to meet face to face the people we have been chatting with online or talking with over skype. Better get to bed, its 2am in Pennsylvania and we have an early morning and 5 more hours of driving tomorrow.

New families and support for them

Ever since we've started the blog we have received quite a few emails from families who have a child who was diagnosed with Metatropic Dysplasia as well as people who have been diagnosed themselves. This is one reason I continue (even though it can be months at times) blogging.
I know when Kaela was born, almost four years ago (which I seriously can't believe!), there was really nothing out there. I called the main office for LPA and was immediately told they knew a family in California who had a son with MD. I was very excited since MD is so rare and there was really NOTHING helpful on line about it. The lady told me she would talk to the other family and soon after I was in touch with a wonderful family. I had a new baby, news I didn't know what to do with, fears I didn't know how to deal with and was just so lost and scared. Talking to this mom gave me so much hope. She has continued to be a huge support for me. I am still so greatful to have found her and so greatful to have her to go to when I have questions.
I want everyone who reads this who has just been given this diagnosis to know there is hope and a good possibility that things will end up being okay. I know there are different levels of severity with MD, but know there is hope regardless of the diagnosis. There are many of us out there that are here to help in any way we can. I've met so many wonderful people and families having had Kaela that I feel like my life was really opened to a new world of new and wonderful things. I know it's hard to see at first because we are so focused on all the scary things we read and hear about that it's hard to see the light at the end of this dark and scary tunnel, but I promise it is there. And there are many others who will agree with this.
As a parent we want our children to enter this world healthy and happy and we don't really worry about anything else, but sometimes we get news that changes this and makes us question things we never even though about. It makes us ask questions that there are no answers to and wonder things that we have no control over. I personally think this is okay and a normal part of the coping and grieving process. I know we all deal with things differently, and I'm the first to admit I didn't do well at all. I panicked when I found out (while pregnant) that Kaela had some form of dwarfism, went home and sobbed on my bed for a very long time...to the point that I got sick. I was so sad and questioned what her future would be before I even met her! Then she was born which didn't go the way I had planned (home delivery, and NOT on purpose), so the bonding didn't happen instantly. We were taken to the hospital in an ambulance and Kaela was immediately taken to the NICU where she spent a few days, then was moved to a regular room for a few more days. I went home one day and wasn't sure I wanted to bring her home. I know this sounds horrible, and I don't tell people this usually because I don't want them to think I'm a horrible mother. I cried in my room and told Matt I don't want to bring her home. It wasn't because I didn't love her, but because I didn't know what was going to happen. I of course instantly looked on the internet after I was given the diagnosis, which was probably the worst thing to do. You're going to do it, no matter what I say, but it really isn't the best way to learn about your child. I spent more time with her at the hospital once she was moved to a new room and instantly fell in love. Nothing really mattered at that point. I couldn't leave her side again! I was still scared, I still cried and I still worried....but I knew she was mine and I had a job now that had a longer list than originally planned...but it was okay because she was beautiful and mine.
The first six months or so were the hardest because there were so many appointments, but things become routine. You get into and minus those extra appoitments, braces, learning what is good and not good, everything is the same. She had a big brother that loved her, she smiled just like my son had, she laughed, she cried, she ate....she was a baby, she was our baby....and we loved her...and we continue to love her. She didn't walk like every other kid and she talks about medical things that most kids her age have no idea about...but she's perfect!
You quickly learn that they are born with this, but it's in NO WAY who they are. They are our children, grandchildren,friends, sisters, brothers, nieces, nephews,neighbors..and they can and will do things you never thought they would do in ways you never knew someone could do them. They will amaze you, they will love you and they will be perfect regardless of the difficult things they may go through. They will teach you so much...including how to love more than you ever imagined you could love. Children do this in general I think...
Having gone through what we have in the last 4 years I can say we are a better family because of it. And not just Matt and I, but our son, our families and our friends...it opens our eyes to a new world of possibilities and a whole world of friendships we never would have had.
The families I've met through Kaela our like part of our family. They are there when we need them and they understand what we go through. You can find the Metatropic Dysplasia group on Facebook at:http://www.facebook.com/home.php?sk=group_215180254421 or search Metatropic Dysplasia around the world. It's been a wonderful resource and support group for so many families! The families and friends of families that are a part of this group are truly amazing people.
I just want families to know they are not alone and that it really will be okay. Kaela having this is just part of our life. We don't talk about it everyday, it doesn't change what we do. Kaela is a very happy, bossy, stubborn, loving, sweet, caring and determined little girl who will continue to make this world a better place, I'm sure of it!