December 4, 2008

Mystery Diagnosis, Here We Come!!!
(Update on our Genetics Appointment)
So, let me say, that our Geneticist was wonderful. We took a typed detailed account of each child's and my medical history with us, plus medical files, to the appointment. She was very impressed (shocked) with our preparedness. She asked us an amazing amount of questions and made a graph.She then informed us that she was positive that the children and I are suffering from a metabloic disorder.
She feels that we suffer from a Fatty Acid Oxidation Disorder. She wants us to get testing to find out which one we have. She is sending a letter to the children's Pediatrician and my primary that we need testing to be done at our local University Hospital, she works there also. She is marking the letters urgent because of my deterioration, she is afraid that my heart might give out.
I thought Shriners paid for the testing, but found out that they only pay for the Geneticist visits. Once we are referred for genteic testing to the University hospital, the hospital will pick up the cost not covered by the insurance. So now I wait a week and then call our doctors to see if they sent the referrals. If they haven't, she is going to call them and put a fire under their bottoms.
She said, that at this point, she is more worried for me, than the children. Don't get me wrong, she is worried for them, but they still have time to recieve treatment and the fatty deposits have not made too much damage yet. She said that since I was not diagnosed as a child (even though I had the symptoms) and started on the treatment, that there is more fatty infultration in my organs, and if it isn't treated soon I could die.
Ryan and I, are happy that we finally found someone who is putting all the clues together, but are terrified on the outcomes of the testing. She also feels that I do not have MS. She said fatty infultration in the brain can look like lesions in MS and the neurological MS symptoms can be caused by the infultration. I told her about the fact that I did not have any ogllical bands in my spinal fluid and yet I was diagnosed with MS due to the other tests, an exacerbation, and my symptoms. She was shocked that the neuro never sent me for metabolic/genetic testing. She feels my exacerbations, were Metabolic crisises.
She will be testing Matthew and I first, when she gets the results she will start testing Jessica and Hunter. Ryan asked her, what can she do once we are diagnosed? She said the faster she can get them diagnosed and started on treatment, the less damage will be done. She spoke about putting us on an enzyme regime, and special eating scheduale, and diet. She also said that a protocol would have to be given to our doctors and hospital for when we get sick.
She gave us her card, she told us that any question we have, we are free to call her. Besides having her office number on it, it also had her cell phone number on it.
She said that if we hadn't raised our children on organic food and made sure they got the medical care they needed, they would be alot worse off. She said we were amazing parents.
I know I should be relieved to finally get us to someone that will help find us the awnser, but part of me feels very sad. I somehow feel to blame. Since Ryan's health history is not to remarkable, she feels that they probably got this from me. She won't be sure until she does the testing.
So now we wait for the testing, then wait for the awnser, and will be doing a lot of praying.