Brianna's Updates!

She was born on August 8th, 2003 with complications during her delivery. The cord was wrapped around her neck, she was not breathing, limp, low muscle tone, and much more. Within her first hour of life she also had 3 seizures while in NICU. Brianna spent a week in the hospital with feeding tubes and failure to thrive, along with needles in her head and needing support of the incubator.

A specialist noticed some features that indicated that Brianna would have more problems and tested her for Turner's Syndrome. That came back negative, but her parents were told that Brianna should continue to be watched and tested.

Since that time, Brianna has undergone many tests, has visited many hospitals with different types of specialists and so far she remains undiagnosed. At one point a urine test showed she has MPSIII type A and they needed to confirm it by doing a skin biopsy. The first one came back contaminated, so they tried again and once again the results were contaminated. This took about a year and a half of worry and wondering. We still don't know the answer. She also was found to have ammonia in her blood. Brianna will need another blood test taken the next time she becomes ill to see if the ammonia elevates. If this happens then she will be diagnosed with Urea Cycle Syndrome which means that a simple cold or virus can cause her to fall into a coma or kill her that day.

Brianna did not walk until after she turned 2, has global developmental delays, especially with her speech, her eyes wander and she is seeing another specialist at Hershey on November 30th. She is now attending a school for special needs to help her progress. Brianna shows to be about a year to a year and a half behind in everything.

UPDATES

On March 3rd, 2006 Brianna had an EKG on her brain which lasted 4 hours and showed 2 spikes. She also had another skin biopsy because the last one got contaminated. We have to wait 2 months for the results to see if she does have MPSIII-A (Sanfilippo).

Brianna now has glasses, that she keeps breaking, so she really doesn't wear them often, and braces on her legs that no longer are only on the ankles, these go up to her knees. She seems to be adjusting to them pretty well, but when she is not wearing them, she tends to go back to tip toeing and has the wide gait.

I will be having her history and other pictures and such on her site "Meet the Real Brianna" soon. That page has not been updated since she was 7 months old due to our house burning down in a fire and not having a computer for over a year. After that we had so much going on that I fell behind. You may want to visit that site often for updated pictures as well that will continue to go on there as time goes by.

March 24, 2006

Today I called to find out that the skin cells did grow (thank goodness) and now they are sending it out to be tested. The last one became contaminated which was frustrating after waiting 2 months. For those who don't know what they need to do for this, they take her arm, use a tube and shove it into her arm then as it comes out it brings all the skin with it, leaving a big hole then a scar. So now, Brianna has 2 scars (one on each arm) that constantly reminds me of some of the pain she has to endure just to find out how we can help her. Ironic. Anyways, this call came with good news and bad news. The good news is that it shouldn't take as long as the last time to get an answer. The bad news is that they can only test for MPSIII-B there. They want to wait until that comes back before doing any further testing because it would have to go to Alabama and is not covered by insurance so they want to think about it before proceeding forward. I, personally, don't care how much it costs or what has to be done...I want answers! She also said how Brianna came back positive for MPS but when I asked about how I recalled her saying "trace" positive for MPSIII-A she said no, it was positive for MPSIII and they didn't know which one. So now I am even more confused. This is all a waiting game that I would like to quit and say "game over" and just have it where there is nothing wrong with my daughter and we worried for nothing in the past and don't have to worry anymore in the future. How I wish that could be the case in this situation. Oh well.

Tuesday, April 18th, 2006

Well, I never received anything from the specialist or the counselor, but found out through someone at Johns Hopkins that her specialist has left. I've known for a few weeks now, yet no one seems to want to tell me anything still. I don't understand why we are left in the dark when we are supposed to work together, parents, specialists, doctors and specialists on what is going on and how to help figure things out. I am glad that I have such a wonderful pediatrician for Brianna who seems to really care about what is going on and whenever I am frustrated about something that happened, she jumps right in and does something to get us some help. I am also blessed because all 5 of Brianna's therapists are also doing all they can to help her and seem to love her very much. We are going to another hospital for metabolic testing at Children's Hospital in Philadelphia on April 24th. We shall see who gets results back first. I was told that Brianna's test at Johns Hopkins should have been ready 2 weeks ago, but we are used to that never being the case.

I am sorry if it sounds like I am downgrading Johns Hopkins, but with our family it has been nothing but one problem after another and hearing other parents saying the same thing. I just wish that they would realize they are dealing with people's lives here, and treat us as people who DO worry and are scared.

Brianna may not be alive this time next year or 2 years from now...this scares us so much and puts a lot of stress on our family. Answers. That is all we are asking for. That and a little respect for what we are going through.

Easter went pretty well for Brianna and her sisters. She has no clue about the Easter Bunny or what all we are doing with eggs and such but when she saw her sisters get candy (which Brianna loves) she then ran in circles and wanted some for herself. She loved her basket and gifts. The day before we went to an Easter Egg Hunt and it was so touching because they even had a time and section for those with special needs so that they would not be left out or hurt. It touched my heart so much to be there!

The first week of May

Brianna and I spent the week at the National Institute of Health (NIH). There she was evaluated and tested by a team of specialist, led by Dr. Ann Smith (founder of Smith-Magenis Syndrome).

The facility itself was much more than I had visioned. I was very impressed by all that they had there and just how large it was. It is also very protected where you even were checked out by security men by having your car checked, your licence checked, your body checked and name tags given out even before entering the large gated area.

Where we stayed at the Children's Inn was purely amazing! They had everything you could think of to make it comfortable for you. Brianna even had her own mailbox and key where each day we would go there to find "mail" for her which was little gifts.

We met some really wonderful people there, namely Johnathon, who is 23 and has been going there since he was 9 years old. He is someone I will never forget and was glad to have become friends with him. Also, Gabriella (a manager) who was more than happy to make us feel comfortable and was very sweet to our kids.

Brianna and I stayed there alone until the last night, then Rebecca, Alyssa and Cassandra stayed overnight with us. They got to see first hand all that Brianna and I were going through, how things run in a facility like this and met many children with disabilities. I felt it was a very good experience for them and educational.

Throughout our stay Brianna (and sometimes myself) went from one appointment to another, racing around the building, filling out forms and becoming exhausted. We would be on the go from 6-7am until around 5pm each day - non stop from doctor to doctor. She had all kinds of tests taken, and yes, we have to wait for answers to most of these. We did find out minor things and all was ok, except a few things on me, yet due to her eyes getting worse, her teeth having lots of trauma and her tubes falling out and filling up with fluid again, more appointments were made.

So within the next 2 months Brianna will be going to York, Shippensburg, Hershey Medical Center, and Phila for more testing again.

What finally became confirmed is that Brianna does NOT have SMS so the doors are finally closed on that. Now they are going to start concentrating on MPSIII (which showed positive way back but was never fully checked out due to her skin biopsies not working out).

So now we are starting all over with having to find out what it is she has, get rechecked for new tubes, find out what they are going to do about her teeth and her eyes and more tests to see if she has MPSIII or something else. I pray that all can be worked out and answers finally come our way.

May 21, 2006

Brianna has shown some improvement with her speech the past 2 weeks which gave me so much hope. She may not be saying a whole lot of words, but she is actually wanting to come up and talk to us instead of just not having the desire to express her thoughts or feelings. She is also starting talk instead of mainly repeating. Well, mostly. Before she would have to hear the sentence and then only repeat the ending. Now, she is saying things that she has heard us say many times. Sometimes it is at the right time and other times it isn't, but it's a great start! For instance, she will say "op i up" which is "stop it Buttercup" (our dog) when Buttercup is barking, but sometimes says it when she is sleeping, so we are not sure how much is "learned talking". Time will tell, but I do believe she is starting to understand more.

Brianna had two pictures of her in this weekend's paper! The article was about Brianna's Blessings and was well written. Next Saturday we are having our Walk-a-Thon and she will be on TV and in more newspapers. She is becoming pretty popular. Got to love this girl...she is just too cute!

Thursday, May 25th, 2006

Well, after many calls and trying to find out what is going on, the doctor from Children's Hospital returned my call. He said how they did everything possible with the metabolic testing and that everything came back normal. He then went on to say how that does not mean that nothing is wrong....how science may not have caught up to her. I was aware of this due to many support groups and children not having a diagnosis until many years later when something is discovered. He then suggested we take Brianna back there and go through the genetics department for testing. Other than that, there is nothing else we can do.

They don't believe they saw any signs of MPSIII but without the skin biopsy they can not say for sure, this made me happy yet also frustrated and wanting to cry because we are back again at square one. A place where we don't belong with any one group and no one to talk to that could give advice or know what it is that we go through on a daily basis. All of the therapists, doctors and specialists agree that there IS something wrong...but no one can say what that is.

All we can do for now is enjoy Brianna for who she is and accept her for all that she can do. As any mother would understand, my heart just melts because I want her to have the best of life and at this point, without knowing what is going on, I can't promise to give that to her. However, I can give her all of my love and I guess that is what matters most.

Friday, June 2nd, 2006

How I sometimes look at this and feel is that I am deep within a cave that has many tunnels and no light...I can't even see my hand in front of my eyes...I hear screaming from my daughter, but because her voice is echoing and bouncing off the walls I have no clue where to turn so I can help her. I am helpless and afraid. I don't want to try going in one direction for fear that I will only be led away from her even more causing her more turmoil. Yet, if I should ready to go in the right direction but not move forward, then once again, I wind up not helping her. So I stay put and wait. I listen closely and try to adjust my eyes so that I can focus on everything around me. It takes patience because the cry for help increases and I want to leap forward to help her but know that I must concentrate on what is happening here and now so I can reach her and help her. Suddenly, all things began to come together slowly and I could see what I had to do in order to help her. And that is what I am doing.....helping her to the best of my ability, the best I know how.