The End of the Story

  So the next day we go back over the hospital to see Dr. Bober. After we have registered ,we were sitting in the waiting area. Who should walk down the hall? Dr. Bober and Dr. Scott. It is very rare to see Dr. Scott.They tell us they have been up all night reading Andrea's x-rays. Dr. Scott leaves and Dr. Bober takes us back.

 They take us  to what looks like a conference room. Now at this point in time I am thinking that this is just like the TLC shows we see on TV. The room looks exactly like the one you see on Kennedy's story. An oval table with lots of chairs all around it. There are tons of shelves that hold lots of toys for the children to play with while the parents are talking. There is a computer where they can pull up your child's x-rays to show you exactly what they are talking about. 

They take a family history.They take a lot of measurements. Head, height, height sitting on the ground,arm lengths,long bone lengths. There are many measurements. They look at everything. 

At this point they tell us they know for a fact that Andrea does not have achondroplasia. They know for a fact she does not have hypocondroplasia. They also know for a fact that she does not have Juenes Syndrome. Which the Pittsburgh Children's genetics thought. At this time I felt like she doesn't have all these things so what does she have?

They did know that she did have some form of rare dwarfism. They also knew that she had some achon characteristics but not all. Andrea has achon hands,head,feet,and facial characteristics. If you didn't know any better just a quick glance of her face you would think she was achon. 

So what could it be? Achrodystosis . It is extremely rare. Dr. Scott has only seen one other case in his career. 

The down side to this that it is rare there is not a lot of infromation out there.

Now that we have a diagnosis things seem to be calmer around here. We were suppose to go and see Dr. Bober 6 months after Andrea's appointment but we never made another appointment. We are taking the less is more approach. We see our regular pediatrician for check-ups. We have Adrea in speech and occupational therapy. We just aren't seeing anyone else at this time. Delaware is just so far away to be taking a trip every 6 months. We just can't afford to go there. There really is no one around us that has a specialty in dwarfism. If there is something that comes up we will certainly be on top of it. Until then we are just living our lives just the way we were before.

Andrea's story part 3

 So we move to a very small town in Northwestern Pennsylvania. We have 1 pediatric practice in the town that we live in. It wasn't very hard for us to find a doctor. The only problem is that the Dr that we did have left the practice and moved away. Bringing in another doctor in to replace her.

The Dr before the new one sent Andrea to Pittsburgh Children's hospital. They thought that Andrea had a form of dwarfism called Juene's Syndrome.  I run home to do a Google search. I thought that they completely lost their minds. Mind you at this time Andrea is 3 and they did no x-rays to confirm their diagnosis. They just had a hunch. Let me just say that I was not impressed.

 At Andrea's 4 year old check up I brought up my opinions to her new pediatrician. I told him I wasn't driving anywhere until they could send us to someone that knew what they were talking about. At this time I thought our best optionof getting  a diagnosis was taking Andrea all the way to Delaware to see Dr. Bober. If he and his team couldn't figure it out chances were no one was going to be able to. Andrea's ped. agreed with us. So I came home and made an appointment for her. Our Ped. appointment was in January and we couldn't get in to see Dr. Bober until the end of August.

August came and a girlfriend of mine, Andrea,and I packed up the car for an eight hour drive to see Dr. Bober and the team. Along with Dr. McKenzie. They could not schedule our appointments on the same day therefore, we 2 nights at the Ronald McDonald house. Which I have to say is extremely awesome!

This picture is from Dr. McKenzie's office. We waited a very long time to see him. He thought Andrea had Hypo. He would soon be surprised.










This is a petting zoo. We had a great time because it was family night so admission was only A dollar.

We also went to the Rose Garden's


The next day would be our appointment with Dr. Bober where we were  hoping to get some much needed answers. ........

Andrea's story Part 2

    Let see where did we leave off. Oh yes my mom passing away. Well I went home to make arrangements for my mom. I then rode in the back of my Uncle's semi truck to the Toledo,Ohio because Bill couldn't stay with me the whole time. He had to come home and go back to work. I remember my Uncle dropping Mike and I off at a truck stop to meet Bill. From there we went to the hospital to pick up Andrea. I remember being so tired from the ride , then going to the hospital and loading up the car with the things that Andrea had accumulated during her 13 week stay.  

We get this beautiful little thing home. All 4 pounds 5 ounces of her. We start to settle in and she has this horrible bout with colic. It so terrible! The only person  she would fall asleep for was Bill. For some reason as soon as she laid on his chest she would be out like a light.

 At this time we were seeing a pulmonologist for Andrea because of her lung disease at birth. Andrea was always so tiny but had a huge head. When I say huge I don't mean like an achon head. Her head was very long. She had a sever frontal bossing. Her tissue was extremely soft and from being positioned side to side on her head caused it to shape like that. This is one of the side effects from being so premature.

   At our 13 month pulmonology appointment  they notice that Andrea isn't quite growing like she should. Her hand are extremely tiny. The pulmonoligist suggests that we take Andrea to see a geneticist. So, I get Andrea in to see this doctor which took me forever. That is when the doctor brings up Andrea has a form of dwarfsim. He was thinking that she had either Achondroplasia or Hypochondrasplasia.. He then suggested that Andrea have a genetic blood test to check for both.  Andrea had the test done and she tested negative for both kinds of dwarfism. They did say that the gene in the blood test only showed up 70% of the time and that it was still a possibility that she could have Hypo. So, we then have a full skeletal x-ray done and had it sent to Cedars Sini to be read by the dwarfism clinic there. It took  a very long time for them to get back to us and when we did receive the report there was nothing in the report. They couldn't tell what she kind of short stature she had.

 In the meantime due to our job situation we had to make a move to a different location.

 Now it was time to find a whole new set of doctors...........

Andrea's Story... Part 1

Because it is dwarfism awareness month I thought I would join the group with Andrea's story.

When I was pregnant with Andrea I had high blood pressure. So they put me on a medicine called Labatol. At about 19 weeks they noticed that the baby wasn't growing and her heart rate would dip under the line. So I was put on bed rest.With ultrasounds and stress tests 2 times a week.

At about 25 weeks they noticed that Andrea had quit growing and that her placenta was not functioning for her.At this time they thought that she could survive in utero for possibly another 2 weeks.At this time I was given the 2 steroid shots to help Andrea's lungs mature faster.

At 26 weeks I went in for the regular (well regular to me) stress test and ultra sounds and they discovered Andrea's amniotic fluid was low and it was time to take her.Well because I had eaten that morning I had to wait all day in the surgery prep area for my C-section. So at 4:44 pm on January 26th Andrea was delivered. Weighing in at 1 pound 10 ounces and 13 inches long.







Andrea had sever lung issues. On February 7th we got the dreaded phone call that no parent wants to get.Andrea was suffering and no treatment was working. There was only 1 more thing that they could try and that was steroids. They called to ask permissoin to give it to her. If we don't give them to her then she would die, if we do give it to her there is all the side effects that could possibly occur. Blindness, cerebral palsy,and possibly death. I was like, "Just give her the meds!" I don't care if she has these things just give her the medicine.It took many weeks but she made a great turn around.

I finally got to hold my baby for the first time, 5 weeks and 5 days, after she was born.I was so happy and proud of her. She had gone through so much in her short tiny life. I was so thankful that she was a fighter.



Andrea would then have to stay in the hospital until April to gain weight,regulate her body temperature, and learn how to suck from a nipple.




One week before I was to bring home my baby daughter, my mom passed away suddenly from a brain aneurysm.She was 42 years old.She was so excited that I was having a baby and that it was going to be a girl.So I left Andrea in the hospital to come home and help arrange things for my mom.It was such a tragic time for me.


To be continued....... Tune in to find out when and how we knew Andrea was a LP

New Hair Cut and Jordache pants

I was going to upload a video of Andrea from dance class but You Tube is under going maintenance. So maybe tomorrow I will get a chance to post it. So in the mean time here are a few pictures of me and my new haircut and Andrea and her Jordache pants that I posted about awhile back.

Our New dancer

Andrea started tap and ballet class on Monday. I think we have a ballerina on out hands. She did really well in the tap class also. She is growing up so fast. Right now I am just trying to treasure these moments with her. She loves school. She even wants to go on the weekends. Waking bright and early to get ready. Therefore, waking mommy up. Oh man I just want to sleep in on those days. Hopefully she will realize soon that there is no school on those days. On Friday we will be starting Girl Scouts. Andrea will be a Daisy this year. She is soooo looking forward to Girl Scouts because Mike goes to Boy Scouts all of the time. I know she has been feeling left out. Andrea has turned into such a girly girl. It is so funny. She even sat for an hour to let me curl her hair piece by piece without complaining. I have always wanted a girly girl and God gave me exactly what I asked for!

GO BROWNS!!

Mike and his brother Josh are HUGE Browns fans. Something that they have been brain washed from their father. Then they have brain washed Mom. So we would just like to say GO BROWNS! For today's game even though we know that they will get their behinds beat. LOL