Asa's story

HEre is a video I made of Asa's story. Enjoy.

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...

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...

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

• 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/

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.

This is hard...

OK, sorry for not posting for a few weeks. I really want to go all the way back, almost 2 years ago, so that you all can have a better understanding of what Asa has been through and has overcome. But, it is hard to write down EVERYTHING. So, I want to start over with this post and inform you of what is happening now with Asa. I will refer back to the past some, but what is important now is just how far he has come and how blessed I am for my friends, family, and most importantly God.

My last post left off during his first week of life. Well, let's just sum things up. Basically, we have been to pediatric neurologists, gastronologist, pulmonologist, pediatric surgeons, ENTS, pediatric optometrist, optomologist, pediatric neurosurgeons, and a pediatric genetic doctor. Asa will be two in August and so far he has had 4 surgeries, 3 MRI scans, 2 flow studies, numerous echos and EKGs, numerous barium swallow studies, 7 hospital stays for complications, 15 Emergency room visits, 2 spinal taps, and countless hours of speech, occupational, physical, and vision therapies. Yes, he has been through alot his past 23 months and all the Dr's, therapists, lab work, etc. all say the same thing...we just don't know. I got so sick of hearing these professionals poke and prick my child without any knowledge or reason of why Asa is the way he is. However, they all agreed on the same thing..."HE is just developmentally delayed." But why? I kept asking. Nothing happened during the birth, my pregnancy, NOTHING, there just has to be a reason to this. So, I insisted on a second MRI this past April. The present MRI findings showed that Asa's white matter in his brain is not growing. Basically, Asa's brain is around the range of a 8-9 month old. Usually, when this happens, it is due to a metabolic disorder. We had that blood work done. It showed nothing, however, it showed a increase "alanine" level. Which made the Dr's. suspicious of a mitochondria disorder. We were then referred back to Shands and there Asa's genetic doctor, who he has seen 3 times before, informed us that he truly does not know why Asa's brain is doing what it is doing. Nothing points to a definite mitochondria disorder nor to any other syndrome/disorder that he is aware of. So, Dr. Williams referred us to a speciality medical neuro genetic clinic in Atlanta, Georgia. It is head by Dr. John Shoffner who is world known and respected for finding the cause and treatments for rare diseases. I had to submit, along with the doctor, a 24 page packet, where Dr. Shoffner had to read and actually approve Asa before we could go. This is a private facility, it is not under a hospital name, because it is so state of the art, so everything will have to paid for becasue they do not take any state health benefit plans or special needs medicaid. Dr. Shoffner approved our visit and we are scheduled to go up on July 8-10 where Asa will go through extensive testing from a stool sample to a several biopsies which include that of the muscle, lumbar, and the actual brain itself. IT is going to be a hard 3 days. I just pray for God to give this doctor the patience, the empathy, and feel my desperateness as a mother of a child who has something she just can't fix.

With it being summer, I enjoy every week I have with him. He is so happy. HE is also going through his terrible twos. I just know it. HE is still not walking, not saying words, but he babbles, laughs, and can crawl as fast as a any baby that I have seen. HE wakes up around 7:30 smiling in his bed. I do the usual morning routines like changing diapers, getting dressed, medicines, breakfast, breathing treatments, etc. By the time I am through with all of that it is around 9 am and we always go for a morning stroll in his stroller. Gosh, he just loves it. He starts to laugh and get excited as I put his hat on and grab my sunglasses. Another thing Asa loves is books. Well, he loves to eat them but he loves for me to read to him. I have been reading to him since he was 2 weeks old.

Anyways, from this point on, I am going to talk about my day with Asa. The good parts, the discouraging parts, and the "answers to prayers" parts. I hope that you all are enjoying reading about Asa's way. Stay posted for more.

First week of Asa's life (August 14-21, 2007)

So I made it through the c-section and heard Asa's cry for the first time. As soon as I heard Asa's cry, it was sound and a feeling that I will never forget. As soon as I heard him, I just started crying and breathing so fast because I was relieved that he was alright. IT was like I have been holding my breath for the past 9 months and when he was finally taken out of my body, I finally let it out. IT was a great feeling. So, Andy brought him over to me quickly, just fast enough for the doctor to take our first family photo, and then Andy, the nurse, and Asa all went into the nursery like normal. So after the nurses and doctors sewed me up and cleaned me off, I was taken to the recovery room. I was with 2 nurses at the time. They were monitoring my vitals. I heard them whispering to each other back and forth but my mind was completely on Asa. I kept thinking to myself, "I didn't get a good look at him.", "where is my mom?", "where is Andy?", my thoughts were going 90 to nothing from 12:43pm until 2pm that Tuesday afternoon. After recovering in the recovery room, I was soon wheeled down back to my room where Andy had already placed 2 dozen long stem roses. No one in my family was in the room yet. I did not think much about it though because I had peace of mind knowing that they were just oohing and aahing over my sweet little Asa. Finally Andy came in the room shortly after and he told me that they wanted to give him a bath but when they laid Asa down flat on the table, his heart rate goes down, his pulse ox goes down, and when they pick him up, he is fine. Andy then told me to not worry. I said, "So, when will I see him?". Andy said, "Just as soon as they bathe him." He then kissed me on my forehead and told me how wonderful I did and he said he would be right back and that he was going to go check on Asa. The nurses came in and gave me some pain medicine and I was soon fast asleep, but for a very short time. My family, Andy's family, friends, etc. soon followed after. Then, Andy came back in with a look that I will never forget to this day.. I have seen my husband frustrated, mad, happy, and embarrassed and I know his looks like my own, but this one was different. It was a look of shock and confusement. I knew immediately that something was very very wrong. He told me that they had to move Asa to the ICU because they can not get his heart rate to stop dropping when they tried to bathe him or lay him down . He said, they have called the pediatrician and he is own his way to see Asa. This was around 3:30 that day.

After Andy told me this, my blood pressure went through the roof. It was like 220/160. I am not kidding. My lips began to swell. I started to breathe fast. I had 10, 000 questions going through my mind. This was the first time I truly believe that Satan tried to get in my way of my special assignment. He was already trying to weaken me. I didn't know that was him at that time, but I do now, more than ever!!!! My family was soon whisked away out of my room and a sign was placed on my door that showed "NO VISITORS." The doctor came in and gave me some medicine and stabilized my blood pressure. I was soon knocked out from all the meds and stress of the day. I never saw my Asa on his birthday, maybe for just one second, but I never held him, kissed him, looked at his toes, NOTHING. The thought of this brings me to tears as I am writing. It was not suppose to be like this.

I soon awoke early the next morning around 2am when the tech came into give me meds, check my blood pressure, the whole thing...I felt the pain of the c-section then more than ever! I asked for something to drink which she soon brought and as she lifted my bed to help me drink, I started to cry. I could not even take one swallow. I will never forget this lady. She was a black woman, around 50 or so, and she was sort of heavy set. She had a comforting way about her. She called me sugar and baby, which reminded me of my mother. When she saw me crying, she then asked why. I told her that I have not seen my baby yet. I want to see him. I know its 2am in the morning but is there anyway I can be wheeled down to the ICU to see him? She then looked at me puzzled and said" What do you mean you haven't seen your baby? Gosh, yes woman! I will take you down there myself. That is your baby! They should have taken you down to see YOUR baby!". She soon helped me get out of bed into a wheel chair. She wheeled me down the many long hallways until I reached the ICU. She buzzed me in and I heard her say " I have Asa Dow's mother." WOW! I thought that was so cool! I was his mother! IT was great. They soon let me in and around the corner of the room laid the most precious thing I have ever seen in my entire life.....at that very moment, as I moved the wheelchair as close to the incubator as I could, I felt a weight on my shoulder like someone was behind me, but now I know it was Asa's angel who was going to help me be Asa's mother..