To my surprise, a letter came from the Mayo Clinic last Saturday. Thankfully I have some medical knowledge otherwise it would have looked like a foreign language. Basically there were some findings from his skin fibroblast test that are concerning for a mitochondrial disorder. Our geneticist called the Mayo Clinic Neurologist last week and then this letter came. The Mayo doctor said that she spoke with our geneticist and learned that Logan has had significant changes in his health since she last saw Logan in August 2011.
There is a genetic mutation that was found in Logan's mitochondrial DNA. The letter discussed the possibility of this being passed through my genes or a pathological mistake. I can have genetic testing done to find out if I have the mutation as well. If I have the same amount of mitochondrial DNA with problems and I am asymptomatic then they would most likely rule it out as being the cause of Logan's problems. If I have a smaller degree of it then it may be the cause.
The second finding was related to polymorphisms. I have no idea what this means!! If someone gets this please let me know! Apparently he has more than the normal amount of polymorphisms in his mitochondrial DNA which could also explain his problems. There is a gene that could account this problem and the letter says that there could be other genes that are implicated. Baylor College (where his testing has been done) has a test that can look at a dozen or so genes. In the fall, there will be another test capable of analyzing over 400 genes involved in mitochondrial function.
So at this point the plan is for Logan to have an MRI on Friday and Mayo has asked our geneticist to add on MR spectroscopy that will look at chemical levels in his brain, more specifically his lactate level. They are also going to draw some lab tests and do a more detailed analysis of his chromosomes. The MRI is specifically going to look at changes in his brain. The letter states that if the chromosome testing is negative, she would suggest further testing of his genes.
Readers, are you reeling like me! In March I received a call from Mayo stating the results were normal and did not get any calls back when I pursued talking to the physician. Now, it is June and we hear that the results are not normal. Logan has had some significant changes in his medical condition since he was seen last August which the Mayo physician did not know. I know that results also have to be compared to the clinical presentation of a patient and maybe his presentation did not match up with the results she was seeing and therefore did not find them significant. I am just reaching for a reason at this point. It does not excuse the lack of communication.
How unfortunate that we had to wait three months to find out what really came of his skin fibroblast testing and that it came in a letter. I am upset and frustrated right now. I am also very scared and I know Joel is nervous too. We have been waiting for answers and now that we have some nuggets of information to go on, the worry of what we will be told is front and center. I have been trying to prepare myself for the worst and we have always known that the chance for a cure is slim to none. Now the worry is what we will be told related to his life expectancy. Sometimes it is easy to go blindly day to day. Answers will pose more questions and more uncertainty. This path we are on is a roller coaster. I just have to remind myself every day to cherish the here and now. You never know what tomorrow will bring.
I will keep you all posted on how he does on Friday. Logan is so strong and resilient!
If anyone is interested in some good reads related to parenting a special needs child check out these books I have read:
Expecting Adam by Martha Beck
The Boy in the Moon: A Father's Search for His Disabled Son by Ian Brown
Fragile Innocence: A Father's Memoir of His Daughter's
Courageous Journey by James Reston Jr.
(I am reading this one right now)
Dear Rachel and Joel...My Mother was Benita's sister Rita. I have been following your blog and Logan's progress. Please know that I hold you all close in my daily thoughts and prayers. I do know that the unknown is very frightening and but answers can be scary also. Our middle son has been visually impaired since birth. Doctors told us that he would not be able to hit a baseball, shoot a basket, ride a bike independently, and that by the time he was high school senior he would be completely blind. Well he is 27 years old and I forgot to tell him he couldn't hit a baseball, or make a basket, or ride a bike...he has done all of those things for many years. He does have a learning curve for all of that but he does it. Today he still has a good portion of usuable vision and in fact was able to work with a great set of doctors to make some improvement to his vision which allowed him to get a driver's license (talk about scary for me as he commutes into Washington DC daily for his job!).
ReplyDeleteI guess my point of telling this to you is this; Doctors give you the facts as Logan is right now. Things, as you well know, can change in an instant....good or bad. You have the choice to let the fear of a special needs child define his childhood or you can take a deep breath and work hard to make every day as normal as possible and work hard with Logan to help him develop to HIS fullest potential. (And by "Normal" I do not mean what the world tells us is normal...I mean what Logan's normal is!)
I do know that had I treated Justin like he would loose his sight by the time he was a Senior and limited him to what he could do he would not be where he is today. Had I listen to what the doctors had said I would not have pitched him the baseball, or bought him that basketball! I had to figure out how to teach him all the things that came so easily for his brother and sister. I spent hours and hours sitting with him to get his homework done when they did not give him large print. I had to give directions in a different manner than I did the other two. I had to take a deep breath and let him try to get somewhere alone, try to crack the egg in the bowl, use the stove, or pour a drink (I cleaned up a LOT of liquid spills!) At times if was frustrating, and I can not tell you how many nights I cried when I was alone! But that was our "Normal".
Now I am in no way comparing Justin to Logan. I know the road ahead is uncertain and scary. Just try not to let the fear lead you.
Justin has taught me so much about myself, about being a parent and about being a better human being! As hard as some of those days were, I would not trade them for anything. I, of course, wish he saw 20/20 and could pick out the details in life, but that isn't in his cards. Looking at life through his eyes has made me appreciate life a bit more.
I know God has a special plan for Logan. God has been my rock and carried me through many bad days and I am sure he is your rock and carries you when you are to weary to move forward.
As I have reread what I have written I am uncertain if I have put in to words exactly what I wanted to say to you. I don't know if I was able to convey it correctly?!? I half want to delete this but I will send it to you anyways.
I am holding you close and lifting you up to God. I hope the doctors do better with their communications with you...and it is okay to tell them they are doing a bad job communicating! You are Logan's best advocate!
Thank you for posting and sharing his story! You are a special mom and it takes so much strength to share his story and not hide under a rock!
I wish you all the best!
Love and prayers, Rita Alexander