Gosh....again I feel guilty for not updating this like I planned in the beginning of this journey. So, I am just going to start with the latest. This Friday, April 15, Asa saw a new neurologist at Children's Neurology Associates in Atlanta, Georgia. We were previously scheduled to go back in January, but he got the flu. Then we rescheduled it for February....he got sick again. So, this has been an appointment that should have happened a while back when we left the hospital in December. However, on Friday, Asa was ready and having a great day.
The neurologist's name is Dr. Janas. The only one of Asa's doctors who is a woman. Asa took to her immediately. There was something about her that was very motherly, kind, understanding, and patient. She took up about a total hour with us, unintterrupted, which was nice. I know that she will not be able to do that all the time, but she truly wanted to know ALL of Asa and about his accomplishments and concerns. She explained alot of things that I already knew about Asa's Mitochondrial Disease. I know that the disease is different for every child. It does different things and truly only God knows the outcome and how it will affect Asa. My main concerns that I brought up was Asa's balance when walking, him leaning towards the right, oral-motor issues, overall motor planning, and especially...his speech. He has had speech therapy since he was 2 months old....and still....nothing. Yes, he understands ALOT. He can point to what he wants, express in specific sounds his likes and dislikes, and follow directions when told--most of the time. So, like I have said in previous posts-Asa's recessive language is EXCELLENT. So, with all this explained she was concerned about Asa having a speech disorder called Apraxia. Basically this disorder which is caused by his cognitive delay of his mitochondrial disease.To make it brief-there is a glinch(sp?) in his brain that does not allow the speech to come out. It is kind of like he knows what to say...but he can not get it out. There is simply a processing disfunction that will not allow the words to come out-which can lead to him feeling very frustrated. I have researched Apraxia before and this disorder does make perfect sense to me since all of his issues, since birth, have almost been connected to the mouth in some way and with processing signals. For example, when he was born he was unable to swallow, suck, chew, his epiglotis could not shut properly, aspirating, excessive drooling, etc. The speech therapist that he currently sees will do the testing for Apraxia so that we know for sure. If this turns out to be the case we must teach Asa, like we are doing now, other means to communicate. These things are like sign language, pictures, and other augmentative speech devices that will help him succeed in expressing his needs and wants.
This disorder, along with the mito, is different for every child and hopefully one day Asa will say, "Mama, I love you."....or he may not ever be able to express himself vocally. I have come to realize that even if the words do not come out of his mouth......I know he loves me, his father, his Nannie, his grandparents, etc. That I can see everyday in his beautiful blue eyes.
The other thing that the neurologist also confirmed was Asa's hypotonia. Hypotonia is very low muscle tone due to the fact that his mitochondria does not produce enough energy from the foods he eats to strenthen his muscles. Asa's muscles are kind of always in a "tired" or "weak" mode. However, you would never know it if you saw him. He seems to be going 90 to nothing these days. So, she prescribed hippotherapy which I am estatic about!!!! This kind of therapy is basically horse back riding where when the child sits and stablizes their body on a horse, they are forced to tighten and strenghten all muscles in order to stay on the horse. Asa loves horses so I believe that this is going to be a great therapy for him. I am blessed to say also that we actually have a place in Hahira, where I live, that does this sort of therapy. I am extremely excited about getting him started on this.
Lastly, all in all it was a good visit. She was very informative, straight forward, and also compassionate. However, at the very end of the visit, Dr. Janas looked at me and asked me if I have accepted that Asa will never be normal. At first.....I teared up....my mother teared up...then she teared up. I simply looked at her and said. "Yes, I have." I then giggled and said..."Hell, who is normal?"
I will keep you posted on the outcome of whether or not Asa truly has the speech disorder Apraxia and how his hippotherapy is coming along. Thanks once again for listening.
Sunday, April 17, 2011
Saturday, January 1, 2011
Encouraged to continue....
Wow! I can't believe it has been so long since I have posted. I almost feel ashamed to even say I have a blog because I have been so inconsistent with it. However, over Christmas break, my grandmother told me that I should continue posting as much as possible, even if I really do not have any updates on Asa. She encouraged me to continue and explained that my postings could one day be an encouragement to mothers who may be experiencing the same things that I have with Asa.
Gosh...so where do I start...ok..Asa turned 3 this past August and started to attend special ed pre-k three days a week from 8-12. He has really enjoyed going to his school and everyone there has fallen in love with him. Asa is receiving his therapies there also. Asa is walking, marching a little, and can feed himself small snacks at times. We still are having difficulties in the chewing and oral motor department, so his foods usually have to be around a "Stage 3" baby food type so that it is easy for him to move the food around in his mouth. We continue to use g-tube to give him daily meds like Prevacid, Multivitamin, CoQ10, and others as needed. We also use the g-tube button to burp him and to supplement his meals by giving him Pediasure, etc. this is to make sure he is getting the right amount of nutrition necessary. We have recently taken him off gluten-completely and are possibly seeing some positive signs from doing so.
Asa is still not talking...not imitating sounds...or even attempting to communicate. He continues to do alot of babbling and can point to some things he wants, but this is at times inconsistent. I know all of Asa's wants and needs, so it is very easy for me to know when he is happy, sad, and frustrated....I will continue to pray for the day that he will say my name....mama
We did have sort of a scare a few weeks ago. Andy and I noticed that Asa was walking and then suddenly losing his balance alot...we blamed it at first on him being more tired than usual because of us being out of town for Thanksgiving. The balance issues continued. What I mean is, when Asa was walking, he would fall to the side for NO reason...we even noticed some other strange behaviors but are hard to explain in words...let's just say that we knew something wasn't right. To make a very long story short, we ended up at Scottish Rite hospital and saw Asa's neurosurgeon who admitted him for some testing. He had a CF flow study done and another MRI completed. The exams show that there was some dysmyelination represented in the study. The doctors said that this is probably because of his Mitochondrial disease progressing and therefore are causing difficulties with his motor skills. We will be following up with his neurologist on the 5th of January.
I know this is alot of information...and Ieven left some of it out...if you can believe that. So, this is where I am now...I have tried to be in control of this since Asa was born! The thought of this disease taking away my Asa's ability to walk creates a feeling inside me that is unbearable to comprehend....but, it was God's way of telling me "Carolyn, give it to ME....just love Asa"
That is what I will do.....
Gosh...so where do I start...ok..Asa turned 3 this past August and started to attend special ed pre-k three days a week from 8-12. He has really enjoyed going to his school and everyone there has fallen in love with him. Asa is receiving his therapies there also. Asa is walking, marching a little, and can feed himself small snacks at times. We still are having difficulties in the chewing and oral motor department, so his foods usually have to be around a "Stage 3" baby food type so that it is easy for him to move the food around in his mouth. We continue to use g-tube to give him daily meds like Prevacid, Multivitamin, CoQ10, and others as needed. We also use the g-tube button to burp him and to supplement his meals by giving him Pediasure, etc. this is to make sure he is getting the right amount of nutrition necessary. We have recently taken him off gluten-completely and are possibly seeing some positive signs from doing so.
Asa is still not talking...not imitating sounds...or even attempting to communicate. He continues to do alot of babbling and can point to some things he wants, but this is at times inconsistent. I know all of Asa's wants and needs, so it is very easy for me to know when he is happy, sad, and frustrated....I will continue to pray for the day that he will say my name....mama
We did have sort of a scare a few weeks ago. Andy and I noticed that Asa was walking and then suddenly losing his balance alot...we blamed it at first on him being more tired than usual because of us being out of town for Thanksgiving. The balance issues continued. What I mean is, when Asa was walking, he would fall to the side for NO reason...we even noticed some other strange behaviors but are hard to explain in words...let's just say that we knew something wasn't right. To make a very long story short, we ended up at Scottish Rite hospital and saw Asa's neurosurgeon who admitted him for some testing. He had a CF flow study done and another MRI completed. The exams show that there was some dysmyelination represented in the study. The doctors said that this is probably because of his Mitochondrial disease progressing and therefore are causing difficulties with his motor skills. We will be following up with his neurologist on the 5th of January.
That is what I will do.....
Thursday, July 22, 2010
Sunday, May 2, 2010
Im ready to talk now....
As you can see, I have not written for the past 6 months. To be honest, I have not felt the need because I truly did not know what else to write about. I thought, well, I got his diagnosis, now what???? And that is what I have been thinking these past 6 months...NOW WHAT??? So, on the funny side of things, I have spent my computer time on FARMVILLE! I am not kidding!!!! It is something for me to just zone out and a place where I can think about nothing! It was truly addicting and still is. However, I had to do something because I found myself everytime I got on the computer searching about things for Mitochondria disease and it was not doing me any good. Some of the things I saw were kind of like Asa but most of the things just truly made me worry even more. With that being said, I have done pretty well about not getting on the Internet about that.
What else has been going on? ALOT!!!!!!!! During these past 6 months, Asa has started walking. HE started back in November. He was 2 years and 3 months. It was the most amazing thing ever and still is. HE is still on the uncoordinated side, but he is WALKING and getting faster everyday. He is still not talking or saying any purposeful words, but he is making new sounds and making his mouth move with the sounds. He has begun to feed himself with a spoon. He is still not chewing very well, but we are still working on that. Also, Thank you God for his g-tube because without that, he would have been hospitalized for dehydration. There has been a couple of times this past winter when Asa got sick. I mean sick!!! We were able to get fluids to him because of his g-tube. I continue to pray for the day when he says "Mama."
I am constantly asking myself the same question everyday though. I find myself asking "now what do I need to do...? This past weekend, April 24th to be exact, Andy and I went to a mini-symposium that was given by a new foundation called The Foundation of MItochondrial Medicine. Asa's doctor, Dr. Shoffner, put it together to give parents a more detail description of mitochondria disease, the disease's management, and also information about some clinical trail studies going on right now pertaining to Mitochondria diseases. I learned a great deal while we were there. As far as this disease and how it will affect Asa in the future is still unknown. What I mean is, with Asa's mitochondria disease, it is primarily cognitive. His primary organ that is involved is the brain which is why we have had such developmental delay and continue to struggle with those obstacles. Will Asa ever be age appropriate? Probably not....and yes, that is a hard thing to swallow....but I'll take him however God gives me to him. I am blessed to have him.
I have also learned these past 6 months, that the chance of this happening again is 50/50 if it is a boy and 25% if it is girl. So, I feel very sad about my hopes of having another child. There are times Im okay with that and then there are times when I get really sad, but I think that is pretty normal. I just could not imagine growing up in a household without my sister and I so wanted to give Asa a sibling. I just did not like them telling Andy and me that.
Overall, I say these past 6 months have been a blessing and a true learning experience for me. I find myself at times very happy and other times very lost. With that being said, Andy and I truly appreciate the prayers, sweet comments, and support from our friends and family. I hope to write more frequently on my blog. I am not sure if I ramble too much and if I ever make any sense. I will continue to do everything I can for Asa and for my family. I have to remember that it is ok for me to cry and that I dont have to pretend like I have it all together all the time. I have to remember to take care of myself too so that I can take care of my family. I have to remember to thank God for the blessings he has given me with Asa. I have to remember not to compare Asa with other children. I have to remember to stay hopeful, take one day at a time, and remember to find Asa's way through all of this....thanks for listening...
What else has been going on? ALOT!!!!!!!! During these past 6 months, Asa has started walking. HE started back in November. He was 2 years and 3 months. It was the most amazing thing ever and still is. HE is still on the uncoordinated side, but he is WALKING and getting faster everyday. He is still not talking or saying any purposeful words, but he is making new sounds and making his mouth move with the sounds. He has begun to feed himself with a spoon. He is still not chewing very well, but we are still working on that. Also, Thank you God for his g-tube because without that, he would have been hospitalized for dehydration. There has been a couple of times this past winter when Asa got sick. I mean sick!!! We were able to get fluids to him because of his g-tube. I continue to pray for the day when he says "Mama."
I am constantly asking myself the same question everyday though. I find myself asking "now what do I need to do...? This past weekend, April 24th to be exact, Andy and I went to a mini-symposium that was given by a new foundation called The Foundation of MItochondrial Medicine. Asa's doctor, Dr. Shoffner, put it together to give parents a more detail description of mitochondria disease, the disease's management, and also information about some clinical trail studies going on right now pertaining to Mitochondria diseases. I learned a great deal while we were there. As far as this disease and how it will affect Asa in the future is still unknown. What I mean is, with Asa's mitochondria disease, it is primarily cognitive. His primary organ that is involved is the brain which is why we have had such developmental delay and continue to struggle with those obstacles. Will Asa ever be age appropriate? Probably not....and yes, that is a hard thing to swallow....but I'll take him however God gives me to him. I am blessed to have him.
I have also learned these past 6 months, that the chance of this happening again is 50/50 if it is a boy and 25% if it is girl. So, I feel very sad about my hopes of having another child. There are times Im okay with that and then there are times when I get really sad, but I think that is pretty normal. I just could not imagine growing up in a household without my sister and I so wanted to give Asa a sibling. I just did not like them telling Andy and me that.
Sunday, October 4, 2009
now i know...
Ok, after 2 years and almost 2 months, I finally got a answer about Asa. In my last post, we had some extensive testing done this past July to test for a multitude of disorders. This past week, I got my answer...Asa has mitochrondrial disease......I know....you probably have not heard of it and if you have, it is so complicated that it will leave your mind going 90 to nothing wondering what the hell it actually is. IF you want to find out more about it, just type it in your search engine and it will pull up a whole bunch of things that will scare the crap out of you. Right now, I do not have the energy to explain it. Every child is different, the symptons are different, it attacks different organs in your body differently, it is truly complicated, and in all the parent forums, websites, etc. that I have been to, the parents are feeling the same way....exhausted, confused, and frustrated because with this disease there is no cure...It is almost like we have to suck it up and have our children bow down to it and just pray for a miracle... Well, I have had no choice but to jump in head first and start asking questions that no parent should ever have to ask...How long will my Asa be here? How long do I have until it really starts to degenerate? When will I know? Why am I asking myself these questions over and over in my head is because I simply do not know the answer and I did not know them before the diagnosis either, but I did not know a reason, cause, or diagnosis to go along with these what ifs in my mind. How am I suppose to feel? My baby's brain is involved... I simply do not know how to breathe...my heart is so full with the unknown that I simply want to just curl up and hold my baby and forget about the world around me.The news is too hard to comprehend, too hard to understand, and just too painful all together. I can barely type these words without the tears rolling down from my cheeks dropping on the keyboard.
I know that this is way to BIG for me and Andy to do alone, I know this. I don't want to do it alone!!! I need you God now more than ever! I need to now why Asa? What did I do? I will do better God,,, I also know that Satan has put all this fear, doubt, and anger into my heart because he does not want me to follow through with this special assignment. I know that is the reason I feel such pain right now...but, I will wipe away my tears.
If you don't know me you would never know the pain I feel inside. I will smile at you, I will laugh at your jokes, and I will go about my day as I am the happiest person on the face of this earth...for that is how I am. I try to hide behind my pain, worry, and doubt. I must take everyday one at a time. I must take each day as a gift with my son and pray for the strength to do this for Asa. Right now, as you can tell, I have so many feelings and thoughts that I probably do not make a lick of sense to those who are reading this. However, I know if you are reading this, you are my friends and family who care for me, Andy, and Asa very deeply.. Let me reassure you all....................I will be ok, Asa will be ok, and no matter what happens, Andy, Asa, and myself know how much we are loved by so many...I also promise you and most of all, my precious Asa, that I will always, NO MATTER WHAT.... FIGHT FOR HIM UNTIL THE DAY I DIE! i will not give up hop....ASA....thanks for listening...
Friday, July 10, 2009
Asa's visit to Medical Neuro genetics in Atlanta, Georgia July 8-10, 2009
First of all, I do not even know where to start... These past few days have been a mixture of information, anxiousness, and at times, a mixture of "why Asa?". However, I will do my very best to explain what we are now looking for in Asa.
Dr. Shoffner met with us for what it seemed 3 minutes, but really was 3 hours. He is a very brilliant doctor and showed much empathy in helping find what is going on with Asa. I was very impressed on how he already knew Asa's medical history down to how many ultrasounds I had. I did not have to remind him of one procedure, sickness, emergency room visit, or medication. Dr. Shoffner definitely did his research on Asa's medical background. It was very refreshing knowing how he was already so prepared on our coming to Atlanta.
I will not go into what was actually discussed, but I will summarize the main points. On Thursday, Asa had a muscle biopsy on his left thigh, a skin biopsy, a lumbar puncture biopsy, blood and urine drawn, and a RMR. Along with an extensive evaluation by Dr. Shoffner. Overall, these biopsies were chosen for these various disorders listed below that Dr. Shoffner is suspicious of. I have no idea which one it will be, or which two it will be, or if it will be any of these at all. Dr. Shoffner felt like there was a 70% chance of Asa having one or possible a mixture of, these disorders. The tests will show. It will take 6-8 weeks for the results to come back. He did inform me that of all these disorders that he is testing for, he does not see anything at the time that would be catastrophic for Asa. However, some of these disorders do have shorten life-spans, but he instructed me to not focus on that and to stay off the INTERNET!!! I have..trust me...
LIst of disorders Dr. Shoffner is testing for with Asa
As of right now, I am in Macon with my mother and family. Asa is with me. We have some doctors appts. here on Monday. HE did great during the procedures and during the anesthesia. He has been more irritable and groggy than the surgeries before, but they told me at the surgery center that is probably due to the amount of spinal fluid that was taken yesterday. I appreciate all of your prayers, encouragement, and words of advice. This is going to be a long 6- 8 weeks. I know it is. I know that during this time I will be tempted to do my own research on Asa's case, I will be tempted to speculate, to assume, to have my hopefulness turned into fear for my son...I know that this is in my future, especially in the next couple months. However, I must remain strong, for Asa, my family, and I must not let anything, any emotion, any thought, or Satan, get in the way of my special assignment. I thank God for giving bringing Dr. Shoffner to Asa. I thank him for what I know now and I thank him for what is to come...thanks for listening...
I have posted some information about mitochrondrial diseases. There are several hundred different types of mitochrondrial diseases. The following is the website to the clinic/doctor that we were at these past few days. It has some helpful and confusing info on there too! http://www.medicalneurogenetics.com/
Dr. Shoffner met with us for what it seemed 3 minutes, but really was 3 hours. He is a very brilliant doctor and showed much empathy in helping find what is going on with Asa. I was very impressed on how he already knew Asa's medical history down to how many ultrasounds I had. I did not have to remind him of one procedure, sickness, emergency room visit, or medication. Dr. Shoffner definitely did his research on Asa's medical background. It was very refreshing knowing how he was already so prepared on our coming to Atlanta.
I will not go into what was actually discussed, but I will summarize the main points. On Thursday, Asa had a muscle biopsy on his left thigh, a skin biopsy, a lumbar puncture biopsy, blood and urine drawn, and a RMR. Along with an extensive evaluation by Dr. Shoffner. Overall, these biopsies were chosen for these various disorders listed below that Dr. Shoffner is suspicious of. I have no idea which one it will be, or which two it will be, or if it will be any of these at all. Dr. Shoffner felt like there was a 70% chance of Asa having one or possible a mixture of, these disorders. The tests will show. It will take 6-8 weeks for the results to come back. He did inform me that of all these disorders that he is testing for, he does not see anything at the time that would be catastrophic for Asa. However, some of these disorders do have shorten life-spans, but he instructed me to not focus on that and to stay off the INTERNET!!! I have..trust me...
LIst of disorders Dr. Shoffner is testing for with Asa
- MItochrondrial Diseases
- Rett syndrome mutations (X-linked disorder)
- Cerebral folate deficiencies
- MCT8 Gene Mutations (X-linked disorder)
- Disorders of creatine metabolism
- Fragile X Syndrome
- X-linked mental retardation (there are several different types of gene mutations that were explained to me. )
As of right now, I am in Macon with my mother and family. Asa is with me. We have some doctors appts. here on Monday. HE did great during the procedures and during the anesthesia. He has been more irritable and groggy than the surgeries before, but they told me at the surgery center that is probably due to the amount of spinal fluid that was taken yesterday. I appreciate all of your prayers, encouragement, and words of advice. This is going to be a long 6- 8 weeks. I know it is. I know that during this time I will be tempted to do my own research on Asa's case, I will be tempted to speculate, to assume, to have my hopefulness turned into fear for my son...I know that this is in my future, especially in the next couple months. However, I must remain strong, for Asa, my family, and I must not let anything, any emotion, any thought, or Satan, get in the way of my special assignment. I thank God for giving bringing Dr. Shoffner to Asa. I thank him for what I know now and I thank him for what is to come...thanks for listening...
I have posted some information about mitochrondrial diseases. There are several hundred different types of mitochrondrial diseases. The following is the website to the clinic/doctor that we were at these past few days. It has some helpful and confusing info on there too! http://www.medicalneurogenetics.com/
Wednesday, July 1, 2009
What a day...
Today the pre-op nurse called from the Surgery Center where Asa will be having some of his procedures done next week. I was on the phone with her for almost an hour going over past medical history, medications, etc. about Asa for the anesthesia. During the conversation with the nurse, whose name was Sherry, I had an unwelcome visitor come into my mind that made me feel so frustrated, doubtful, sorry, and anxious. I became easily frustrated with this pre-op nurse who was only doing her job, but I get so tired of answering the same questions over and over again, that I start to think that NO ONE (meaning doctors, nurses, etc.) read Asa's charts, notes, medical records, etc. I mean, sometimes I get so frustrated with the actual process and routines that sometimes I ask myself if these people really know what they are doing. Is the reason why Asa does not have a true diagnosis because these doctors don't read anything that they ask for me to send them. Anyways, as I mentioned earlier I said that I felt an unwelcome visitor come into my mind that made me feel this way. We all know who that was...the stupid devil!!!!! I hate him with a passion!!!!! He is always trying to get in my way and bring me down. HE filled my head with negative thoughts today and got in the way of my special assignment. It really pissed me off!!!!!!!!!!!!!!!
So, after the conversation with the pre-op nurse and several others, I became very nervous about the week ahead of us. I am just dreading it really, I truly am...I just am dreading what he will have to endure next week. I went out and bought him a doctor's kit, the old-fashioned kind, and I played doctor with him. HE does not mind the stethoscope, but he hates the thermometer, blood pressure pump, and the play syringe. HE was not very interested though in playing with the tools-besides he has seen enough of the real ones already. I know I seem to ramble but on days like today when I do get down and out, I have to remind myself that there is absolutely nothing I can do but what I am doing right now with my Asa. I must not get frustrated with the process because it is all for Asa. Yes, it is repetitive...Yes, it is strict...Yes, it is costly....and Yes, it is tiring at times....but like I said before, Asa is my destiny and for that I will continue doing everything I can for him. Thanks for listening.
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