Truly one of a kind....

Yep, it is true.  This kid is not only unique but a true genuine, one of a kind.

We had Con's annual genetics appointment this past Friday and everything went as well as expected.  The appointments are stressful for my family because I need to make sure I have all of the questions I have gathered over the last year written down and the fact that we don't really know what they are going to say to us.  I could not help thinking that they may have found something not so good when studying Connor's deletion this past year.  Thank goodness that was not the case this time.

They still have yet to find another person with the same deletion as Connor making him the only one still.  Kind of neat that someday Connor will be the person some doctor will be comparing their patient to if someone else ever becomes diagnosed with this particular deletion.

Good news is that there was an article released earlier this year documenting three cases of 21Q deletions (yes, Connor's deletion finally has a name).  All of the three cases had similar deletions to one another but very different from Connors.  Connor's deletion is the largest recorded so far missing a total of 82 genes and enzymes but even though it is the largest, we got lucky some how.  Two of the three cases had very small deletions but they were missing a particular gene (IT1something  or rather) that causes severe mental disabilities (I do not like the R word so I will be using the word disabilities instead).  Connor's deletion literally  stops right behind that gene leaving him both copies. (YAY)!  He doctor did diagnose him as being mildly mentally disabled (again no R word please even though the doctor used it several times) and even though I knew that, I had a hard time hearing it from a professional.  The article was really nice to know that there are some other cases out there.  A 21Q deletion is extremely rare but I am still determined to find another kid out there EXACTLY like my boy.  I keep looking at this article just so pleased that I have a little something to compare him to now even though it is not what I had exactly hoped for.

Apparently the first ever recorded case with a deletion similar to Connor's was in 1964.  I believe these other cases from the article are more recent than that but I am not sure.

We spoke about Connor's amazing progress and finally brought up his speech which at this point is my main concern.  He mentioned to us that Connor's brain is underdeveloped which we knew but it is also very narrow making it hard for him to process speech since it is done in the frontal lobe.  He told us that he should talk but it is unknown as to if it will be normal like you or I or if he might have a slur or speak slightly slower.  He also could not tell us when.  It could be in a year or 5 years.  If by chance he is still unable to talk properly when Kindergarten rolls around, there are computerized talking devices available to help him in school.  This is all such good news.  We will continue speech therapy and possibly ask for more.  We are excited to enter him into special education pre school when he turns three.  He will be able to learn so much more there and finally meet a friend or two.

We came across some health problems we will be addressing in the next few months as well.  Connor will be getting an eye exam due to the shape of his lids and my concern with his peripheral vision.  He will also be going to a GI doctor due to the fact that the genetics doctor has diagnosed him with PICA.  I had never heard of that before and thought Connor's need to put everything in his mouth was just something he needed as a stimulation.  Turns out he is not mouthing his books or his babies but he is actually eating them.  That is why he rips the strings out of his babies and gnaws on the ends of his board books.  His body for some strange reason is craving those things.  He also eats cat food daily but we of course discourage that behavior.  I find it to be so odd that your body can crave something so unappetizing.  I know my mom used to eat dirt as a child and it turned out she had a very bad kidney problem and needed lots of medications.  We are hoping Connor is just missing an enzyme or vitamin due to his deletion.  The doctor mentioned that it could be psychological and if that was the case it would be a very, very hard habit to deal with.  Lets just hope for the best and pray it is a vitamin or enzyme deficiency.  I am so happy to see a GI doctor because not only will we address this PICA issue but now I can get to the bottom of his chronic constipation/diarrhea.  That poor kid has never had a normal bowel.  It is one extreme or the other.

Other than that, Connor looks great and has made great progress.  We were told he is a very charming little boy and definitely one of a kind.  They also mentioned that he is proof that Early Intervention works.

I am one proud mommy!

Vent Away

So I cant stop thinking about the "what if's" and they happen to be driving me batty.
What if Connor's peditrician had noticed the ridge in his forehead sooner? I noticed it pretty much at birth (they think his sutures were already closed then) but I didnt think anything of it because I didnt know it was something to be concerned about. Would Connor's brain NOT be underdeveloped if we had noticed sooner?
What if we had gotten Con into the Regional Center at an earlier age? Would he be making even more progress?
What if I had done something differently? Maybe I was too old to have a child? Did I cause this chromosome to be missing?
I cant find any support groups out there to help ease my mind and everyone around me seems to think he is just fine. I KNOW he is fine but at the same time, he needs lots of help and work just to do what other 17 and 18 month old children do on there own and even then, he cant really do them.
He was saying a few words a few months ago and those seem to be foreign to him now. He does pick up words here and there but, will they leave his vocabulary?
What does it mean when they say his brain is underdeveloped? I assume there is no damage so then-FIX IT! Develope that brain.
What if Connor gets teased? What will I do? I cant tell that child to stop. I cant talk to his/her parents but that is about it. All I can do is tell my child that he is absolutly the way he should be.
What if I didnt worry so much?

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 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...