Practice will make perfect

I think I can do this...
OK-getting into position...
The look of sheer determination...
Well-I cant quite figure out how to move my legs yet but, I am almost there. My mom still thinks I am cute!

Are we playing games here?

So, back in June, Eric and I had our blood taken to see if the chromosome issue Connor is dealing with might have been passed from one of us and we had assumed we would get the results when we had our appointment on July 10. Well, of course they had said I had never made the appointment for July 10 and I had to reschedule for September 8.

I am still convinced that they deleted my appointment and because of that I had demanded an email and regular mail confirmation letter confirming our Sept. appointment.

I received and email last week from Connor's genetics counselor stating that our parent blood work would be ready in a few days. I emailed her back to thank her and reminded her that I still had not received the email or regular mail confirmation for Sept. She emailed me back again with a one line email stating she would contact that scheduling department about sending it out and she typed-Sept. 8, 2009 130pm. That was it. Is that an email confirmation?

So, last week, I received a phone call from the genetics counselor. She said our blood work was in and that they both came back normal. This means that Connor's missing chromosome and trans location started with him. This is a good thing in the sense that now we dont have to give the poor kid more tests to determine what is going on with him. We know the issue and now we just have to figure out exactly what this is going to entail, what will happen in the future and what other doctors might we need to see. She told me that when we see the doctor in Sept., he will go over all the "maybes" that might happen to Connor and we will discuss treatments and doctors for issues we already are aware due to his gene loss. She also said that they know all the names of the genes Connor is missing but don't know what some of them do. That makes me nervous. Does that mean there is not enough research done on them to know or does that mean they are not significant enough to have done research?

Well, here comes the kicker- I once again asked her while I had her on the phone to please send me the mail confirmation regarding his Sept. appointment. I explained once again that I did not want to be accused of not making an appointment and it was very important that I get that paper. She told me not to worry that it was in the mail. OK.

Well, two days later I still have not letter BUT, I get a phone call from her saying that there is a cancellation on August 11 at 130pm and we were the first on the list. I took it and she told me I would receive email confirmation and a letter in the mail. Within minutes I had the email. This email looked much different than the first confirmation from Sept. This was an actual formal letter with instructions, directions and it had a letter header from the hospital. I then got the letter in the mail one day later. Where is the Sept. one that she said was in the mail?

I am now assuming we NEVER had a Sept. appointment. I figure they were waiting until Eric and I got our blood work back to determine what was going on. Well, the issue at hand started with Connor not us and now somehow, it is important? So boom, I have an apt. in two week, I get a professional letter and all this information?

Did Connor not matter if the case was that he got this from one of us? This is crap and the system sucks. What am I 12? What kind of game are we playing here? This is a wonderful hospital but the service sucks. From the research I have been doing, this stuff is pretty common which I find insane.

I am just glad we will be seen in August and Connor can finally get the treatments he may need. I am getting more and more concerned about his sutures so I am hoping to get a referral then for a doctor other wise his pediatrician can refer us.

I think these people need some lessons in class!

I started an epidemic...

I became ill very late Sunday night with what we thought was food poisoning. I was supposed to take Connor into the doctor for his high fever but could not even move at all on Monday. Connor was an angel for me while Eric was at work. I plopped him in bed with me and he played and fell asleep when he became tired.

I took Tuesday off work to finish recovering and we finally took Connor in to the doctor for what was now a rash. Turns out he has Roseola and will be good as new in a week or so.

I went to bed early Tuesday night to make sure I would be 100% Wed. morning for work only to wake up at 1A.M. to a husband violently vomiting in the bathroom and a baby screaming for his mommy while vomiting in his crib (this literally happened all at once). I cleaned up Connor and made sure Eric was ok and we all went back to bed only to wake up three hours later to them both doing it all over again at the same time. Poor Connor was so helpless and scared.

I am now under the assumption that my food poisoning was the stomach flu and I have now passed it to my family. I ended up taking today off work to take care of the clan and I must say that I am sort of annoyed that I had it SO BAD for almost three days and both Eric and Connor are doing much better after just 10 hours. I am glad they are feeling better but I was bed ridden and they are on the couch watching Blues Clues.

I love my sick men and I must say I love the fact that I am no longer feeling like that.

I wish I could get a lawyer...

So, I have been meaning to write this since Thursday but have not had time until now.

We had received the preliminary results of Connors MRI the day he had the test done. They read NEGATIVE for Leukodystrophy and his pediatrician said she should receive the final results no later than Monday. Monday came and went and I had received no call. Finally on Wed. I called and she told me to call the hospital to try and get things moving. She was sure it had to have been read by now.

I called the hospital and sure enough, they either had forgotten to send it or in one of their mass faxes to various offices, it might have gotten lost. She faxed it right away and the pediatricians office called me within minutes to let me know they had received it. OH YEAH!!! Sadly, our doctor had left for the day and would call me Thursday morning.

Bright and early Thursday morning I receive a call from Dr. A. She tells me the final results are in and Connor's brain is NORMAL! "WHAT? Are you sure? The CT scan showed missing white matter and patchiness". She proceeded to tell me that the CT scan is not accurate for that type of work and what they were really looking at on the CT was his skull to see the sutures and the extent of the closure. The pediatric neurological doctor must have seen shadows on the scan that represented this horrible fatal condition and had to warn us. Only the MRI showed the accurate analysis of his brain. There is NO disformation of any kind on his little brain.

So, I proceeded to ask her why the neurological doctor would even tell us something so serious if he knew only an MRI would be the true telling factor? She didn't know the answer to that one. She did tell me that they should have just told her that an MRI was needed for further studies instead of making us think the worse.

I am calling the hospital on Monday and asking for that doctors name. He should not be able to scare families like that.

So, now it looks like we are strictly dealing with a chromosomal issue. According to his pediatrician, as soon as we see the genetics doctor, we will discuss where to go from there. She will refer us to other doctors if needed. She told me that the genetics doctor will give us the complete down low of exactly how many genes he is missing and what that entails. She is also still concerned about his skull and is excited for us to get to meet the facial team in September.

Eric and my blood work will be back sometime this next week and we will finally see for sure if this chromosomal issue came from one of us or if is has started with C. If it did come from one of us its back to the drawing board to see why Connor is so special and unique!!

I wish I knew how to sue someone for false diagnosis. I guess I just better chalk this one up for experience.

Still waiting...PATIENTLY!

It has been more than 1-2 days like the doctor said it would be. I am sitting here, 6 days later to hear from C's pediatrician with his final MRI results. I finally phoned the hospital today and am hoping to hear from his doctor tomorrow. I am keeping those fingers and toes crossed for word that my son is even more perfect than I already thought he was.

As far as our blood test goes regarding Con's chromosomal issue, the genetics counselor said we should get the results next week.

waiting sucks...

I miss this so much...

so tiny, helpless and adorable.

700 pounds just lifted off of my shoulders....

This will be very brief and I will update in details as we know more info but, Connor's pediatrician just called a bit ago and said she got the preliminary report from the hospital regarding Connor's MRI. As far as Leukodystrophy is concerned, it is NEGATIVE. Those were the best words I have EVER HEARD in my life. I started smiling and bawling my eyes out. Eric looked at me and new immediately that our son was not going to lose all of the skills he is learning now and he too started crying. This was the news we prayed for each night in the weeks leading up to this test.

The doctor said the real results will be received in a day or two and we will find out then what is really going on with his little brain but they are certain it is not Leukodystrophy.

I honestly cant tell you how awful I have felt the last few weeks knowing that I might lose my child by the time he is ten. I hope I never have to know that feeling again and I feel for anyone who has had to go through this.

I thank God for my child every day and as of tonight he just became even more wonderful than he was this morning.

This is the best day EVER.

Now if we can just get going with the genetics doctor things really will look up.

Not a happy boy...

Today is the day we take C in for the MRI. I have come to the conclusion that what ever the results are, in the end we will all be just fine. I just cant imagine him have Leukodysrophy and I think because my heart is telling me that it is not that, things just feel a little better.

Connor is not a happy man today at all. He was not allowed food or drink past midnight. He is a thirsty hungry boy right now and is not happy that I am having him stay in his crib (heck, its 630 a.m., he should be sleeping). I know he wants some milk, he is thirsty. I am hoping the drive hospital will be quick. I am almost positive he will be fussy the whole way. It will be breakfast time.

As soon as he wakes up from the test, we will have milk and oatmeal waiting for our brave little man.

I must have made it up....

So, I have been preparing myself with a list of questions to FINALLY ask Con's genetics's doctor face to face. This Friday, July 1o, has been marked on my calendar since June 10.

I emailed his genetics counselor today to confirm the appointment and she emailed me back stating that she spoke to the appointment office and CONNOR HAS NO APPOINTMENT FOR JULY 10. WHAT THE FUCK? (Excuse me). I have been waiting for a month to finally see this doctor face to face and get some freaking answers as to why he is missing a piece of chromosome and why it has trans located itself to another chromosome.

They had absolutely no compassion for my situation which made me even more upset and more angry. I was in tears screaming at this woman on the phone accusing me of never calling for the appointment. I finally said, "so your saying that I am making this up"? She proceeded to tell me she never spoke to me. I guess I must have mysteriously marked it on my calendar and both Eric and I took an extra day off of work just for kicks.

I am appalled by the lack of bed side manor these folks have. I tried my hardest to explain how useless it is for me to receive these results over the phone and then play phone tag for weeks just to get answers to my questions on my answering machine.

I told the genetics counselor that she needs to fit me in on Friday, July 10 and she told me they were booked to capacity. Yeah, booked with Connor's appointment.

Connor's new appointment is SEPTEMBER 8. We will see the doctor and the cranial facial team that same day. They emailed me and told me that if there is a cancellation we will be the first to be told about it. OK, and that does what for me?

Connor's MRI will go on as scheduled this Thursday at 8a.m. At least I know his pediatrician will phone us with the results and let us know weather or not we are looking at Leukodystrophy or not.

I can honestly say I have never in my life been so angry at a doctors office. I don't know why it is that some offices have no feelings what so ever for what families might be going through.

my little hot dog....

Not too happy about the hot dog crown but, we could not resist.

The happiest baby in the world...

NOT ALWAYS.

this is what happens when you combine too many toys and the need to get ready for bed.