A Not So Good Day!

I have started to measure the success of my days, by whether or not I cry during or at the end of my day! Most days end unsuccessful! And today was one of them! I woke up at 5:30 am, so that I could get ready, get all three Kids ready and load the car up with all of Payten's equipment before 8:30 so that we could make it to Physical Therapy on time! It was a challenge, but we made it.

P.T. went really well. Payten was engaged. She played and worked hard. She did new things and showed a lot of progress! I was happy to say the least! Then we had a Neurology appointment! There we recieved the test results of Payten's last Spinal Tap, which showed new findings that revealed an additional diagnosis. The New Diagnosis is GTP Cyclohydrolase Deficiency in the autosomal dominant form. This is the cause of her Cerebal Folate Deficiency and could be the cause of everything else.

It was a bitter sweet moment. Here I recieved what I had been waiting for, for sometime, but was it what I wanted to hear, NO! Was I ready for it? NO! The Neurologist explained to me again that we are dealing with a very rare deficiency and that he is not very knowledgable in it and so we would both be learning at the same time! We talked about the affects GTPCD Causes.
And it varies from case to case. It is another wait and see diagnosis. It can cause Severe Mental Retardation, just like the CFD can, uncontrolled muscle movement which can progressively worsen over time, frequent episodes of hyperthermia without infection, convulsions, Hypotonia and Hypertonia, Seizures, and much more!

Does medication help? Sometimes! Again it varies from case to case. There are only three medication that can be used to treat this and they have to be used together inorder for it to work and not have drastic side affects. But one of the medications has a possible side affect that is life threatening. It does not happen in all cases, but it does happen. Some people after taking the medication have been diagnosed with a Musclar Disease that has no cure and eventually kills them. But there is nothing else we can use. These three Medications are the only meds. that treat GTPCD. So Joseph and I have a tough decision ahead of us.

We also talked about Retts Syndrome and how he thinks Payten is suffering from that as well, which also causes Severe Mental Retardation, Respitory Complications, Sleep Apnea and eventually loss of usage in the hand.

Now, like I said before Joseph and I have a tough decision of whether or not we will go through with the plan and start Payten on the medication. The plan for now is to Admit Payten to the PICU, perform a Phenylalanine test, which will determine how much medication she will need and start medication trials. And while there do a DNA test for Retts Syndrome.

This was alot of information to take in, especially in the hour that I was there. I left felling scared, alone and hopeless! I sat in my car and cried. How could I possibly decide? What was the right choice? Is there a right choice? On one hand my daughter suffers from two deficiency's that affect the brain and could eventually kill her if not treated. And then on the other hand, she could possibly get a Fatal Muscular Disease from the medication that would take her life anyways! No parent should ever have to make a choice like this, and I do!

Once I got home, I did some research and there I read about a little girl, who was reported to be BH4-Dependent Hyperphenylalaninemia due to GTPCD. She developed feeding problems, poor sucking, and poor muscle tone in the first week of life, and later showed delayed development. By the age of 2 years, she was unable to walk and developed seizures and choreoathetosis (uncontrollable movement). She died at the age of 10.

When I read this I started sobbing, this describes Payten to a Tee! So after much thought and talking with Joseph, we are leaning towards going ahead and trying the medication. Either way we can't lose. And I could not live with myself if I did not try. There is a chance that my child could slightly improve and Darn it I am going to take that chance and hope that it turns out well! How do you remain hopeful when you keep getting news like this! I guess through alot of prayer and faith.

So I guess in the next few days Joseph and I have a lot of praying to do inorder to make a life changing decision for Payten. But we are Greatly leaning toward treating Payten with the Medication.

Also at the appointment we found that Payten's Seizures are worsening and so she was put on a stronger dose of Keppra, let hope that helps. Lets Hope that everything helps and Payten will have some chance at life! And so ends my day! Good night!