First Visits to Baltimore for the Pipster and I

I know that I said I wouldn't "share" this blog as it was more for me than it was for you readers, but in this instance I think it is okay because I have so many people who care about Pip and me.  Blogging it means I can tell you all at once which gives me a bit of peace.


I'll start at the beginning because that is my favorite place to start. I started my morning with an appointment with Dr. Richard Kelley at the Kennedy Krieger Institute at Johns Hopkins.  Dr. Kelley and I go way back. He found me when I was eight months old and he's been saving my behind since.  Over the last twenty years there was not a need for me to see him so our correspondence was via telephone and then email, and then Pip came along and Dr. Kelley suggested that I come down to get things started to insure Pip's arrival and my survival.

My mom and I spent about three hours with Dr. Kelley this morning.  It's important that I cover these details as they will most likely directly affect Pip if everything works out correctly (ha!).  At first Dr. Kelley just caught up on what has been going on with me in the last twenty years. He made sure there were no hospitalizations that he wasn't aware of and covered old details that were no longer or still relevant.

He believes he figured me out.  This whole time he believed that I had a fatty acid deficit.  This is because in the 80s there were only so many tests, screenings, and technologies that were offered to doctors that tried to solve the puzzle called Autumn. However, now he believes that I actually have a mitochondrial myopathy.  Yes, the words mean nothing to me as well, but the story means a whole heck of a lot.  If this is the story with me then there is a treatment plan, not a cure, which is fine, but a way to cope even better than I have been.  He was quite impressed with how much I have improved over time.  You have to keep in mind that I wasn't supposed to live to see a year, or go to school, or do anything that I've done.  I imagine that when he saw me today he was blown away by this crazy chick who moved to England, fell in love, got engaged and is now pregnant.  A long way from CHOP's NICU! So the bottom line is that I donated seven vials of blood to the genetic counselor and Dr. Kelley.  We initiated another go at physical therapy and, if this is what he thinks it is, it will all revolve around a new "diet" plan that hopefully will provide improvements to my body and quality of life in time for Pip's arrival.

Dr. Kelley also believes that this has actually been passed down from both my mother and father. I am not certain if I believe this one.  I have no reason not to but no logical reason to believe it other than because he told me so, which is usually good enough but up until today it's always been environmental.  My concern is passing this to Pip. Dr. Kelley told me that it is a 1 in 400 chance that Pip will get it.  The odds are greater if Dann is also a carrier but Kelley also said that the chances of Dann being a carrier if this extremely rare disorder is slim to none.  Although all of these odds are great to hear, the outstanding truth is that I am literally one in a million.  I am the rare one so odds and I are not the best of friends. BUT a way to look at this is that the doctors know more about my case now than they did when I was born, than twenty years ago, than five years ago.  There is more information out there than I ever had AND if Dr. Kelley is right and what he thinks is wrong with me is what IS wrong with me then Pip is already a step ahead of me.  I hope and hope that it skips Pip and Pip's kids and grand kids etc because this life is hard but if it doesn't skip him/her the doctors know what to do and what not to do for Pip; I suppose that's all Daddy and I can really hope for.  Naturally, I am also hoping that Pip gets my hair and my eyebrows (and my sense of humor) but that Pip is healthy and normal is most important to me.  I know I make this life look easy but it's hard every single day there is some sort of struggle.  The bottom line is that it sucks to be different and I want for Pip the exact thing that I wanted for myself my whole life - just to blend in with everyone else.

I digress.


Dr. Kelley is concerned about a C-Section just because of the fasting that occurs for the days after the operation. I did express to him that I am very concerned that I do not have the stamina or strength to make it through labor and he understands. I would also like to have a planned C-Section rather than an ER Section.  The C-Section will most likely be scheduled at 38 weeks but will be confirmed later.


Another thing is that when I was seven or eight Dr. Kelley arranged for me to meet an orthopedic surgeon at Hopkins, Dr. Sponsellar. I know that I didn't spell that right but I've been up for a long time and had a long day.  Google it if you want to stalk him.  Anyway, the meeting was to start the proceedings for surgeries that would straighten my body out, hamstrings and legs would be just like yours.  Back then Dr. S didn't think that the odds were in my favor.  He believed it would be 50/50 that it would be successful or I would end up paralyzed.  Those odds, my mother and Dr. Kelley were not comfortable with taking.   I have been thinking about it for the last year or so and I brought it up to Dr. Kelley today and he believes that with medical advancement and my improvements it is much more realistic than it was in the past.   As long as the odds are better, especially with Pip being around, I will hopefully be looking at surgery within the next two years (year). So the wedding might be postponed a year because if I have the chance to walk down the aisle, you can bet your behinds that I will moonwalk right down to Dann, no wheels attached.  And if Pip has a "normal" mom that would make me almost as happy as I would be if Pip ends up normal. I cannot even begin to hide my excitement when I think about standing straight and having muscles that work better than they do now.  It's an excitement that you will never understand but I hope you're excited too.

Then we had an appointment with the OB Practice.  There is nothing really exciting to tell here because it was just an "intake" appointment. Besides the fact that I donated five more vials of blood to them and that the nurse's last name was Starr and the doctor that I will see first has a first name of Jude (FOR REAL!) there is nothing really interesting to say.

I have an ultrasound Thursday in Scranton.
I go back to Baltimore for round two April 23rd.


Again, I apologize for putting this on a blog but texting a thousand people the same story really doesn't tickle my fancy!