Wednesday, January 29, 2014

Payten's trip to Utah to see Dr. Katherin Swaboda and the things that were discussed.

Oh goodness, it has been far too long. I totally fell off the blogging ban wagon and it is all my fault. I was going through some pretty hard issues both physically, mentally and emotionally that left me numb to everything that surrounded me and to be quite honest, the furthest thing from my mind was blogging. So, I want to give my sincerest apologies for leaving my friends and family hanging/questioning, how the Merrill family was/is doing. Obviously, I am doing somewhat better or there would not be a blog post, but as I always strive to do, I am going to keep it real and say, that I am still struggling with some things, so like always, I ask that if you pray, please remember me in your prayers, I truly need them right now. As for everyone else in the family, they are all doing well, except for the fact that half of them are sick right now. Seriously, the past few months have been awful in regards to illness plaguing our home. We just seem to be catching everything under the sun, which is not normal for us, usually just Payten suffers, but right now, it seems to be all of us who are suffering and it really stinks! I need a break! Seriously!

 Right now, it is the flu. At first I thought Emmett, Zachary and Makenna had it, but it turns out that Makenna just had a little cold and now it is Emmett, Zachary and Payten who are suffering from the influenza bug. I am hoping that Joseph, Makenna and I can all escape this nasty bug, but my gut says that ain't happening! Unfortunately, I think we all are going to have our fair share of this awful bug and I am definitely not looking forward to my share of it. Unfortunately, this also means that Payten's first day of preschool, which was schedule for tomorrow, (Tuesday January 28th), will have to be postponed until next week, when she is hopefully better. I am praying that since she had her flu shot, this bout of the flu will not affect her as severely as it could, but I worry that it might land her in the hospital and if that happens, who knows when she will start preschool. I guess I have to agree with her teacher, when he said, Well, I guess Payten will start preschool someday, we just don't know when that day will be?! Ha! Let's hope it is next week! A part of me is a little happy about this postponement, because I can now have a little more time to prepare myself emotionally for her first day of school. Please, don't get me wrong, I am super excited for her to go to preschool, for I believe it is going to be a good learning and social experience for her, but I am also scared to death to send her somewhere that is out of my control, it truly worries me. If you can't tell, I am a little bit of a control freak, especially when it comes to my Payten and her care; therefore a little extra time to swallow all of this preschool stuff will be good for me. At least that is what I keep telling myself. I just pray it is a good experience for her and nothing too bad happens while she is out of my care.

For those of you who may not know, last week was the week we took Payten up to Utah to see the Neuroscientist Dr. Katherine Swaboda, who works for the University of Utah in the Neuroscience center. I had very mixed feelings regarding this appointment. First of all, I was excited, for I trust Payten's Neurologist, Dr. Jay Cook and I knew that he would not recommend a Doctor, especially one that is out of state, if he did not believe that she had something great to offer our family. However, I was a little worried, for I did not know what answers or suggestions we would receive, considering the appointment was scheduled for only one day. Really, what can you accomplish in one day?! Thankfully, we were very surprised and we were able to accomplish a lot in that one day and my trust in Dr. Cook was solidified and we received an abundance of information and recommendations on how to help Payten and also to help try and figure out what is FULLY causing all of her complications. We spent 7 hours with Dr. Swaboda and left the appointment feeling a little perplexed, as well as hopeful that we were going to begin a path that would lead us to answers that would possibly help to improve Payten's overall quality of life, which is our main goal for Payten. Now, please bare with me as I explain all the information that we received during our 7 hour visit, there is a lot of information and I do not want to leave anything out, rather, I want to leave all of you with as much information as I can; so again please bare with me as I go through it all.

First of all, we had no idea what we were going to be discussing at this appointment, all we knew is that Dr. Swaboda specialized in Neurological conditions such as GTP Cyclohydrolase Deficiency and that she had a great knowledge in children and the medication senimet, which is an adult medication that is used for Parkinson patients, however it is the main treatment for kids such as Payten, who suffer from Neurological movement disorders that affect the Neurotransmitters in the brain and so we figured that our main focus during this appointment, would be discussing Payten's dosage of senimet and what the Doctor's feelings were on how far we could go/take this certain drug without it being harmful to Payten, etc. And boy were we wrong! Well, sort of. A small portion of our appointment was focused on that, but the majority of it was focused on other things. Seriously, it was kind of overwhelming. Let me explain,  the first half of the appointment was spent discussing Payten's medical history and everything, I mean, literally everything that she has ever had done or gone through, etc. Once we were finished giving Payten's life story,  Dr. Swaboda examined Payten and while doing so, she pointed out every major to minor abnormality Payten had in regards to her body and it's features that would point to a genetic disorder of some kind. Dr. Swaboda did all of this while taking pictures and measurements, etc. so that she could share them/discuss them with a panel of Genetic Doctors that we works with to see if they have any conclusion as to what Payten might suffer from. Once Dr. Swaboda was finished pointing out everything that was wrong with our daughter, which was both interesting and hard to hear, she and a genetic counselor, sat us down and asked us, what our main purpose and goal was for this particular appointment? To which we responded that we just want to find answers, as well as solutions on how to better Payten's quality of life. Which is exactly what they wanted to hear, for they felt that was a manageable request.

After that, Dr. Swaboda proceeded to tell us that she feels that Payten has been misdiagnosed and that she does not believe that Payten suffers from GTP Cyclohydrolase Deficiency, hence us leaving the appointment a little perplexed! She went onto say, that clinically, the tests that have been done thus far, point to Payten  possibly having this Neurological disorder, GTPCD, but genetically, it has not been proven, therefore it is uncertain as to whether or not Payten truly has this disorder, of which we have been lead to believe she has had for a few years now. Honestly, I am not really surprised with any of this, for I knew that there had to be more to the puzzle, for Payten did not fit the mold of GTPCD, but no one could tell me what the other pieces were to the puzzle and now we finally have a doctor who is trying to figure that out for us.  Dr. Swaboda said that because this is such a new thing diagnostic wise, Doctors do not fully understand that you have to further the clinical study with a genetic test, which is totally understandable. However, it does put us back at square one which is, what does Payten have? Dr. Swaboda explained that her reason for feeling as though Payten does not have GTPCD, is because Payten is too severe. Most cases of GTPCD are not as severe as Payten and the majority of patients, do not present problems as early on as Payten, even in the most severe circumstances. Yes, kids with GTPCD suffer from a great deal of complications/problems, but not like Payten and typically they respond a lot better and a lot quicker to the senimet medication, of which Payten has not really responded to or rather has decreased in her response, which is not typical in cases of GTPCD, which is another thing we were misinformed about. But again, it is such a new diagnosis, that it is common for doctors to misinform their patients, for they too are learning.

So now, you are probably questioning, as did Joseph and I, where do we go from here? Well, I will tell you! After Dr. Swaboda observed Payten throughout the day and changed up Payten's senimet medication and examined her, she went on to discuss a list of procedures and test that she would like to see done for Payten and here is that list. As I go through this list, I will do my best to explain everything I can,  to the best of my ability, so that you may fully understand what all of this means/entails. So here it goes, first off, Dr. Swaboda would like to have another MRI done on Payten's brain. The reason being, she wants to see if there is a lot of difference between this MRI and her last MRI which was done about 2 years ago, for it might explain all of Payten's regression these past few months and the reason behind all of her seizures. Which I think is a really good idea, for if I was going off of my Mommy instinct, I believe this MRI is going to show a lot of changes and it is not going to be "good" changes either, but hopefully it will give us some answers. Dr. Swaboda would also like to have Dr. Cook preform a carbohydrate deficient transferrin study, what is this study/test? Carbohydrate Deficient Transferrin, is a laboratory test used to help detect heavy ethanol consumption, however, this test is not only used to detect recent heavy alcohol use which is most commonly associated with elevated CDT, it also is used to detect certain rare liver disorders, which can also increase the levels of CDT and that is what would be the cause if Payten did suffer from increased levels of CDT, for heaven knows I have not consumed any alcohol and Payten hasn't either, therefore it would have to be caused by something else. Dr. Swaboda said that it is unlikely that this would be something Payten had, but it is something that needs to be ruled out, therefore we will rule it out.

Then Dr. Swaboda suggested that we do Exome Sequencing. Exome Sequencing is, a highly complex test that is newly developed for the identification of changes in a patients DNA that are causative or related to their medical concerns. In contrast to current sequencing tests that analyze one gene or small groups of related genes at a time, the Whole Exome Sequencing test will analyze the exons or coding regions of thousands of genes simultaneously using next-generation sequencing techniques.

The exome refers to the portion of the human genome that contains functionally important sequences of DNA that direct the body to make proteins essential for the body to function properly. These regions of DNA are referred to as exons. There are approximately 180,000 exons in the human genome which represents about 3% of the genome. These 180,000 exons are arranged in about 22,000 genes. It is known that most of the errors that occur in DNA sequences that then lead to genetic disorders are located in the exons. Therefore, sequencing of the exome is thought to be an efficient method of analyzing a patients DNA to discover the genetic cause of diseases or disabilities. Additionally, the WES includes a mitochondrial genome screening. Mitochondria are structures within cells that convert the energy from food into a form that cells can use. Although most DNA is packaged in chromosomes within the nucleus, mitochondria also have a small amount of their own DNA. This genetic material is known as mitochondrial DNA or mtDNA. In humans, mitochondrial DNA represents a small fraction of the total DNA in cells. Many genetic conditions are related to changes in particular mitochondrial genes.

The principle of the test is to sequence nucleotide by nucleotide, the human exome of an individual to a depth of coverage necessary to build a consensus sequence with high accuracy. This consensus sequence is then compared to standards and references of what is normal in the population and the result is interpreted by board-certified laboratory directors and clinicians. By sequencing the exome of a patient and comparing it to normal reference sequence, variations in an individual's DNA sequence can be identified and related back to the individual's medical concerns in an effort to discover the cause of the medical disorder.

This information listed above was found on  the Baylor College of Medicine website, under the Medical Genetics Test Detail section. This is the most extensive Genetic test that can be preformed and Dr. Swaboda working on getting insurance's approval as we speak. While we were there, they drew all of our blood, meaning Joseph, Payten and Mines blood, to use for this test. They are also going to do DNA Banking with our blood samples, meaning that if they need more blood for more test, they will be able to take from those samples, instead of having to draw our blood again. Pretty cool, huh?! If everything goes smoothly and the insurance approves it in a timely manner, the test should take about six months, however in most cases it takes up to a year or more to receive results, so it is going to be a long time before to know what this test will show and there is a possibility that it will come back non conclusive, but that is a risk we are willing to take. However we are hoping that it will show us the answers we are seeking, I just wish it did not take so long! I just have to keep repeating to myself, Patience is a virtue!!!! LOL. Then Dr. Swaboda listed several lab recommendations that she would like Dr. Cook to preform, which I can not remember what those are, as well as a renal ultra sound, which would be done either by a Urologist or a Nephrologist. A renal ultra sound is a noninvasive diagnostic imaging study to assess the kidneys, ureters and bladder. It is referred to as "jelly on the belly" testing that is a painless examination that is most commonly used for imaging modality for children with urinary system concerns.
Renal ultrasounds are commonly used in children to detect congenital abnormalities of the urinary system and they evaluate other urinary tract concerns and since Payten has some abnormal features in her vaginal area, Dr. Swaboda wanted to have this test preformed to make sure there was not further problems we were missing. This concludes the list of things Dr. Swaboda wanted to see done in Payten's behalf.

All in all, the appointment was a successful appointment, filled with a lot of information, as you just read. Now, you may be asking yourself this, What will any of this knowledge do? How will it change anything in regards to Payten? And believe me, Joseph and I have had these same questions and the answer is, we do not know. Honestly, we do not know if it will change anything, but what we do know, is that knowledge is power and if we want a chance at helping our daughter to the best of our ability, then we proceed with this list of suggested things and we do all we can to find out what Payten's Genetic Syndrome is, if there is one to be found or rather one that has a name. Because once we figure that out, then we can know if there is anything else we can do for our daughter. But as for now, we will continue to do what we are already doing and we will continue to hope that Payten's future will be bright and we will go forward knowing that we added another awesome Doctor to Payten's medical team, a Doctor who is ready to fight for our daughter! Now, before I go, I want to leave you with this,

Though Joseph and I are seeking answers/a diagnosis, we know that Payten is much more than that, we know that ultimately, she is a person, but not only that, she is a child of God, who we love dearly and all we want is to know is how we can best help her to fulfill the mission that she has been sent here to fulfill and that is why we continue to search. So please if you can continue to pray for our daughter and ask that we may find the answers we are so desperately seeking, we would be very appreciative to you. Thank you all for your love, concern and thoughts in Payten's behalf, we feel them and we appreciate them. May God continue to bless you all and may you all have a good night.




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