Location, Location

As most of you know Vada and I met with the Geneticist; Dr. Hoganson, yesterday. We had gone to see him because originally they thought that Vada had a condition called Methalmalomic Acid Anemia. Turns out she us has low B12, which is great, especially compared to the MMA. The low B12 is treatable.

Prior to this appointment we had gave gave Vada a weeks worth of daily B12 injections. Then they re-tested her levels and her B12 sky rocketed. So, now we are just going to monitor those levels to make sure she is doing alright. We also put her on Poly Vi Sol, which is a daily vitamin.

We kept our appointment with Dr H. just to be able to discuss any concerns or any other findings he may have had. The whole visit was quick and easy.

We also discussed my lab work that was done the week prior to this visit because we were concerned that I may have very low levels of B12 which was in return causing Vada to have the low levels. Turns out my B12 levels are low, but not too low. I also have low iron and my Thyroid is low as well. I wasn't really surprised since I have been mildly anemic since before my pregnancy with Vada and I have had Hypothyroidism since the birth of Kiliegh. All I need to do is take a better daily vitamin and bump up my Thyroid medications.

Before we left our meeting with Dr. H. I asked for a copy of Vada's Karyotypes. His staff said that they would look into it and get back to me on it.

What does having a copy of Vada's Karyotypes mean? Nothing, except I would be able to see the third, twenty-first chromosome! I don't need proof that Vada has Down syndrome, that's not why I asked for my own copies. I asked for them because the opportunity to see your own child's Karyotypes does not often come up. Most people will never have this chance, which is fine, but since I am in a situation where I can see them, I'm going to do so. Carpe diem!

After meeting with Dr H. we had to wait two hours before we met with Dr. Jennings, the Neurologist.

The visit with Dr. J. also went smoothly. No surprises, no real concerns. Everything is pretty much staying the same. We are continuing to wean Vada off of the ACTH and if everything goes well she should be off by mid November. We are changing her "maintenance" medication from Keppra to Topamax. She HATES the Keppra, it's incredibly hard to get her to keep it in her mouth let alone to swallow it. Were hoping that this new kind will be better for her to take. That in return would be better for me. It is so stressful knowing that these medications are her life line. If she doesn't take them the seizure will can come back and will take over. If I cant get here to take them, then it's my fault. Irrational or not, that's how I feel.

So the appointments were yesterday. Earlier this morning Dr. H's assistant called me to let me know on the progress of getting the copy of Vada's Karyotypes. She said something about them being archived and that it may take a couple of weeks to receive them. She also said that I needed to directly contact the hospital to sign release forms. No big deal.

The next thing she said was very unexpected. She asked if I was aware that Vada has Translocation Trisomy21. At first my heart started to race. At first I was confusing Translocation with Mosacisim . I knew what both were, I just got swept away for a second.

I was not aware that this was Vada's full diagnosis; Translocation Down syndrome. In all honesty, it doesn't mean anything different for Vada. Just an extra word to add on to one of her diagnosis.

For us, Justin and I, it could mean that every child we have from here on out would have Down syndrome. That would be, if one of us were in fact a "balanced parent". There is something like a 1 in 4 chance for that to be our situation, so for "piece of mind" she suggested that if we planned on having more children in the future, we should get genetic testing done.

A New Diagnosis & Two Added Medications

For the last three weeks Vada and I have been taking a trip back to Peoria once a week to see her Neurologist, Dr. Jennings. Today was our third trip. Basically, we are just doing check ups and going back through every test that has been preformed from the previous visit.

Today's visit was scheduled for 11 a.m. Last weeks visit was as well, but it only took about an hour to be seen. Dr. J. doesn't make appointments for Friday's, he just see's patients on an emergency basis. Vada's situation is a bit different because of her treatment and he wants to see her once a week. He also wants a visiting nurse to come three times a week and for us to take Vada to her pediatrician once a week as well.

Before I get into how the visit went I have to say that I think Dr. J. is a great doctor. Soft spoken and seems to have a kind heart. His bedside qualities, I am learning, are hard to find in doctors, let alone specialists. Most specialists, in my short experience, seem to have a chip on their shoulder, or really big heads! Dr. Jennings is down to earth. People(his staff), refer to him as a skinnier short bearded version of Santa Clause. Its a close comparison. In situations like Vada's its nice to have a doctor that is willing to answer any and all of your questions, and he does just that.

It was almost 1 p.m. before Dr. J. finally made it to our room. Everything went smoothly,at least for the first few minutes. The conversation was light. He asked a hand full of his normal questions. "How's she doing? How are you doing? Have you noticed any seizure activity? And so on. He even brought me in a bag of food because we had been there for so long! His own personal stash of trail mix and veggie chips. That's my kind of food! Up until this point I was happy with how the visit was going. I thought I was about to be on my way out, which made me things eve better.

On a side note Jasmine started Karate a month ago. Tonight was her first promotions ceremony. She was going from the beginners white belt to the red belt. I have missed the majority of her classes and I really wanted to be there to cheer her on.

Instead, I was helping hold Vada down while she was stuck five, yes, count them...five times to obtain enough blood for eight vials of blood (they threw in an extra vial, just to be sure they got what they needed).

  This has also become a ritual Friday afternoon activity. Did I mention they had to do it five times? What about the fact that they went through her scull? Its a sad thing to watch, but I refuse to walk out of the room. I always have to help hold Vada. Usually i'm by her head so I can at the very least whisper into her ears, in hopes that my voice may calm her somewhat.

Anyway, things were (note the emphasis on "were") going smoothly, until Dr. J. received a phone call and had to step out for a minute... or thirty-two, but who's counting.

As he entered I noticed he had extra papers in his had. He sat down next to me and said. "I'm glad that everything is going so well, but here's what I am concerned with today." He shuffled through the papers in his hands and pointed down to a bold printed title. Methylmalonic Acid Deficiency. He began discussing levels and acids and then he brought up a name of one of his colleagues,Dr. Hoganson, who was from Chicago. He said that Dr.M would like to see us, but for now he would like to start treating Vada immediately. For what, I was still unclear about.

Turns out Vada has a high levels of Methylmalonic Acid and those levels are increasing. Actually, they seem to be doubling week by week, which is why we are doing weekly blood work. Dr. J. called it "organic" acidemia metabolic disorder. Organic, because we still need to diagnosis which type she is effected with.

Long story short. Dr. J. is out of his field on this one, his words not mine. He cant tell me if Vada will live through this. Its rare.Basically Vada's body is not processing certain acids. So on one side she is going with out them, on the other its building up a storage of toxic acids. Eventually those toxins can build up and "over flow" or over dose her. This can eventually cause her to slip into a coma then pass away. I'm not for sure on the time frames of any of it. I am assuming were okay for awhile because of the three week wait until we meet with Dr.H. from Chicago. Were starting a form treatment to see if it'll help, if it doesn't help it cant hurt.


We began treatment of daily intramuscular(IM) injections of cyanocobalamin, (vitamin B12). Over 90% of children with this deficiency respond to vitamin B12 injections. About 40% of children with this deficiency are helped by this treatment. We also started Levocarnitine orally. L-carnitine is a amino acid that your body producing naturally. Your requires it for energy metabolism and for proper use of fats. The bad thing with the L-carnitine is that a side effect can be seizures. However, if we were to not treat this new condition of Vada's it too could cause another type of seizure.

Our hopes are high, and our faith is even stronger. I don't know what God has in store for us. I'm not angry, but a I would be lying if I said I wasn't bitter. I silently curse the mom's, my friends, who complain about trivial things like their children having headaches, ear aches and runny noses. I have to stop myself before becoming too irritated. I try to remember that they haven't had to suffer with their child like this. Their complaints are significant to them as well, but I still just want to say "Really.. a head ache? How tragic." I try to remind myself that I was once that mother too. Its not fair. Its not fair for me to discredit their concerns and its not fair that Vada is going through this. I know. That's where my bitterness kicks in. The problem for me is that I just don't understand any of this. Why so much? Why with her? I hate to sound like a big baby myself, but she has been through so much, I wish I could take it for her. She deserves a fair chance at life. To run and play like any other child. She has enough to deal with, she doesn't need anything more. I don't hate God, actually, just the opposite. I feel a strong need to be at church, but I cant get there with Vada. So I listen to our pastors sermons on podcast and I pray, a lot. Sometimes I wonder if this is Gods plan. Is he trying to break me? Push me down as far as I can go? Test me? Show me where my place is while secluding me from my friends, family and activities? No. I believe not. Its something else. Maybe its to show me whats really important. Okay, I get it. I know that my husband and children are first, after him. Now, stop this mess. Let Vada grow and live and let us love her and watch her grow. Please.

Dr. J. made a comment yesterday, "Why so many diagnosis for such a small baby." he followed that comment by turning to me and saying "Your a good strong woman, and mother." All I could do was give a weak smile, because inside I was breaking. If he only knew that I was already shattered and worn. "If Vada can be so small and yet so strong, then I have to be too. For her." I said. I stood up and walked out to the desk to make our appointments for the following weeks to come.

That's all. That's all I know for now. Ill continue to read about it so I know what to expect and I will continue to update everyone.

I like to blog. However, I have a hard time finding time to do it. So with that being said, ill try to stay up to date on the important things in life.

And now to sweeten up the situation, a little eye candy. Taken with my cell, so not the highest quality, but still sweet.