4, already?

So Tomorrow, October 1st, is Aden’s 4th Birthday. I am not sure how that has happened. I mean it seems like just yesterday that he was born and that he was a little baby wearing 0-3 month clothes and size 1 diapers. Now he is a BIG BOY. He is 41 inches tall and 30 pounds; he is wearing 4s in pants (blue jeans) and 4t/5t and X-Small shirts and big boy undies. I can’t believe that he all of a sudden got to be so big.

He is in preschool and loves it; he still 4 weeks into it wants to live there and asks every morning if we are going to school and/or if we are going to church. He loves having friends and being involved with other children his age. He has also started Cubbies in the AWANA program. He is loving learning his verses and getting to learn the sign language for all of his verses. I stand in AWE of how God works.

Every day when I pick him up he crawls into the van, kisses Zach and then goes to his seat. Even with all that Zach causes him to change and be flexible he loves him. Aden is best educator that I have ever met. He is able to tell others that his brother has a tube and that he gets tired easily and that he can’t have milk or any milk proteins. He is able to tell that he can’t have apples or watermelon and that you have to check the ingredients before he will take it and eat it. He has found sports… he loves to watch basketball and football and loves to watch it with daddy. He gets excited and cheers on the teams (He even yells at TV like Daddy). We have gotten to go to several Falcon games as well, he loves going to the game although his attention isn’t that long and with all the noise he wants to “go home and watch the game” He says that he wants to grow up and be a judge (to help say what is right and wrong) and play football, sounds like a wonderful goal!

My little boy is 4, How did that happen???

MITO AWARENESS WEEK!

Roughly 2 years we started on a journey that I didn't know would take this long, be this serious or be so full of nonanswers. I took Zach in because he wasn't nursing from one side and I noticed that the muscles in his neck were tight and he had trouble turning to that side. I totally expected to be told not to compare him to Aden, that Zach was a different child. The Ped looked at him and proceeded to check his muscle ton and do some tests... this is when our world offically changed forever. Because of the muscle tone and not being able to nurse, Zach at 2 months old was labled as Failure to Thrive. I was heartbroken to go through this again but I was confident that I could, that we could handled it. We slowly realized that he wasn't gaining and through many hospitalizations, we got an NG tube, a G tube and everything else.

Finally we decided to do genetic testing, we found out that he is missing part of chromosome 1 (1p35.2 to be exact) and we were delighted not that he was missing it but that we had an answer, then they tested me and I didn't have it, Great this is what is wrong with him. They then tested Adam and guess what he had the deletion as well, so that means that it isn't the cause of his problems. We stayed several months trying to figure out what to do and him not really gaining (he is 17 pounds barely) and begining to have major issues with muscle tone and other things. We finally decided more testing was due.

After a long wait we found out that he has defects in the mitochrondia in complex 1 and complex III. We aren't sure what it means but we do know that it shows us that all the heart ache and the issues have a name.... my sweet baby boy has MITO.

DETAILS:
The mitochondria act as the “powerhouse” of the cell to produce energy for the body to live. Mitochondrial disease is an energy metabolism disorder that affects babies, children, and adults of all ages, races, and gender. Experts agree that at least 1 in 4000 children and adults have mitochondrial disease; however, "Mito" may be under diagnosed until improvements in diagnosis and awareness occur.

Symptoms of “Mito” vary in type and severity, and may include profound muscle weakness and fatigue, seizures, gastrointestinal dysfunction, developmental delay, vision and hearing loss, and unexplained organ failure.

Today there is no cure for mitochondrial disease; treatment is focused on energy conservation and vitamin therapy.

Mitochondrial dysfunction has been related to other diseases including autism, diabetes, Alzheimer's and Parkinson's disease and aging.

FACTS:
• Every 15 minutes a child is born that will develop mitochondrial disease by age 10.

• It is estimated that of the 4 million children born each year in the United States, up to 4000 develop mitochondrial diseases.

• At least 1 in 200 individuals in the general public have a mitochondrial DNA mutation that may lead to disease.

• There are over 40 identified types of Mitochondrial Diseases and believed to be over 100 variants of mitochondrial diseases

• In the United States, more than 50 million adults suffer from diseases in which mitochondrial dysfunction is involved. Mitochondrial dysfunction is found in diseases as diverse as cancer, infertility, diabetes, heart diseases, blindness deafness, kidney disease, liver disease, stroke, migraine, and the toxicity of HIV and other drugs. Mitochondrial dysfunction is also involved in aging and neurodegenerative diseases such as Parkinson and Alzheimer dementia.

• The World Health Organization (WHO) calculates that neurodegenerative diseases, also associated with mitochondrial dysfunction, will become the world's second leading cause of death by the year 2040.

Update

So yesterday I took Zach to a marathon appointment day... we went and dropped Aden off and school and headed out to the the Emory Clinic for both a GI appt and a Neurology appt. Here is the mini update, if you want more details please ask me!

GI appt: He got a new button placed it, there was lots of blood when they pulled the Mic Tube though, there is lots and lots of irritation as well. They are having me give a double dose of Nexium for 5 days to see if we can help with the healing of all the tissue that is irritated and angry. I also have to go by the pharmacy and pick up a cream, it appears that inside the stoma he has a yeast infection, how that happened I do not know. We are also going to be doing some clean out today, I know not the best thing to be doing but if it keeps us out of the hospital then I will do it.

Neurology: This appt is one that has no answers really... It was a hard appt for me and one that I wish that I didn't have to go to. Although I know that it could be worse and that many others have situations that are worse, this is my son and it is hard on me. We talked about his legs turning in and about the braces that we can't seem to figure out what to do to help him. I was told that it is very very very common for mito individuals to have this, that anything we do is going to be a temporary thing. So we are getting 1 new specialist.... an Ortho. They want Zach's hips and spine to be looked out, just to make sure there is nothing wrong with them. If there isn't there is nothing that we can do for his leg/foot turning in everything is a temp fix. Kinda glad to know just heartbreaking in a way.

We talked about Zach's low grade temperatures and she looked back at his blood work and all and so we are getting our 2 new speicalist an Immunigiolost. I don't know what this will entail and I am amazed that we are getting 2 more doctors.

She also said that I needed to look at getting a new wheelchair for him (his old one is only 6 months old). I am going to look to see if I can get his chair modified, I am not willing to accept this yet. The reason why is that his muscle tone in is chest has decrease so much that he has chunks of time that he needs to recline, our chair has now tilt at all. He is struggling even with the harness to sit in it at times. I didn't know that he would need it and they didn't either till now. As hard as that is they also are putting me in contact with a social worker (she says I never should have been doing all this alone). We have to get the whole deeming waiver thing started. Sigh, my heart is crumbling. Needless to say I didn't sleep well last night, with thoughts of medicine that we need to buy but can't afford, new doctors, etc. My mind needs an off switch.

So prayer for those of yall that pray, which please don't stop praying for us:

• Zach's medication, we need to figure this out so we can start it and not push his MITO appt back.
• Aden, please pray that his birthday doesn't get over looked with all the things for Zach, his birthday is Oct 1.
• All the new appts and that I can get it all together
• That the resources will come available and clear so we can provide all the things and support that we can do the boys.

MEDICATIONS SUCK

So one of the things that help with MITO is a drug, well the FDA considers it a supplement called CoQ10. Many people take it as a supplement at roughly 100mg per day. The script that Zach has is for 800mg per day and I just got a call back that says that they can't get the brand that the Mito Doc wants and that the only way that they can do it is to get a powder and compound it up, I asked how much that was. He got off the phone with me and figured it out and then called me back... anyone ready for this, no seriously are you really ready for this it is going to be $400.00 a month for that one drug that insurance doesn't cover. Keep in mind that this isn't a liquid form (which has been shown to absorb better) that is compounded.

So I am overwhelmed to say the least! I had been told that it was expensive and I knew that going in that insurance probably wouldn't cover it but 400 a month is beyond what I could even have imagined.

If you are one that has been praying for us, please please please pray for this. Hearing this today is hard since Zach is stumbling and falling, feeling miserable and running a mild fever. It makes it all so real and hard for me. Yes I know that it can/could be worse but right now for me it is hard.

Speciality Appt

So today we had an appt with the MITO PA. She is the most wonderful person that works for a doctor’s office, I mean the best one out of all the medical office people that we deal with ( I love her and our PT). I mean she is nice, loves Zach and is wonderful at explaining things, she answered all of Adam's questions and all of mine and even asked Zach if he had any questions. She used to be Zach’s NEURO PA and we lost her to this MITO doc. While I will miss her I am so thankful that she will be explaining things to us and that she is there to help other families through this journey.

I know that God has been in this whole thing but now it is all setting in and I am beginning to wondered how in the world. I mean I know that it will work out but on the same hand it makes my head spins.

So here is the update for those that were waiting on the Specialist appt. update. Zach does have MITO we aren’t sure what type but he does have the diagnoses as MITO, we are waiting for some more of the tests to come back to see if we will know or if he will always have plain MITO. Having this diagnosis may open up some doors for some assistance but we are still waiting to find out, it does mean that he qualifies for EI next year when he turns 3. I am not sure what it means but I am sure that I will find out more as we go. Finally getting this doesn’t change how we treat Zach and honestly it doesn’t change what we do for him. The main thing that this diagnosis does is it allows us to know that we aren’t fighting something that we don’t know about. Although a lot is unknown about MITO and all the things that go with it, at least I know that I am pushing him for a reason. It also allows all the comments that people say to now roll off, although I will hear them they will no longer hurt as badly cause we do know that Zach has a medical issue and that we are doing all that we can do for him and that we have been doing all that we can for a long time.

I walked out with a script for CoQ10, which is a supplement/medication that they want him to be taking, it sounded like they wanted us to get it as soon as possible. This sounds easy but I am having to figure out what to do, where the nearest compounding pharmacy is and then I am going to have to take the script see if insurance will cover it and if not, we have to find the money to pay for it. There is a chance that this CoQ10 will not only help with his energy levels but there is a chance that it will also help with the pain that he is having. Besides the amount that it costs the other drawback is the time that it takes to be effective. They cautioned us that it could take up to a full month to be effective.

I also walked out with a script for Syringes which the home health people won’t deliver because they say they don’t carry the small ones. I have to come up with a system to give him all his meds and get the times all down. Since he now has medications that are given 4 times a day. So this is also one of my battles that I have to figure out and win… how do I make sure and keep up with all of the medications that I have to give Zach?

Honestly my head is spinning so I am going to put the prayer request now for those that I have told to look here….

• Pray for Adam and I as we learn about MITO and teach Aden and all those involved.
• Pray for insurance covering this medication (CoQ10) or for the money for getting it
• Pray for money for the med-alert and for the services involved
• Pray for money for the foundations that will allow us to be connected to others with this condition

I am sure that there is more but my head is spinning so much I can’t think of all of it now.

So I am not crazy....

So all along I have thought that I was crazy, well I knew that I wasn’t but I wondered if Zach’s condition was in my head. I heard people saying so many things that I doubted if I was doing the right thing. I felt (feel) led to do all the things that we are doing: OT, ST, FT, PT, and play therapy. I saw him having trouble walking, not saying words appropriately and all that, be tired all the time, running low grade fevers. However, when you hear other things from people it makes you wonder if you just missed the boat somehow. The other day I read a status update off of Facebook and I started bawling, I mean I was delighted about the growth and the positive things that were in the status but I was so sad that at 6 months things her little one was weighing what he was and doing so well (please don’t read that I wanted him to be doing poorly) and was close to outdoing Zach on several things. I know that Zach is different and that God blesses him differently but that was the 1st time that I saw something and it hit me that Zach has his own timeline that is going to be different from everyone else’s.

This week as been hard…. well this past week I should say. We had something that we were doing for Zach everyday so we were busy a lot. We had a great PT session at the park, a great ST session and FT session, and a wonderful Music Playdate as well as a Play therapy session. We were blessed by the Starlight Foundation to go to a Falcon’s Game, taking the boys with us. They each got their own shirt and their own seat. It was AWESOME. However, Zach has been paying for it every sense. He screamed all night Sunday night, he has decreased bowel sounds and he was miserable. Today he has a fever, all from muscle fatigue. He is fighting to put his braces on because they touch his legs; he is fighting to change clothes because it means he has to move to help me put them on. He isn’t able to sign because he is tired. Last night he was so tired he couldn’t eat or even cry. Ever been so tired that you couldn’t communicate because it took too much energy?

So going back to me thinking that I was crazy… I have been told for so long that I haven’t been doing enough for Zach. That I am not going to the right doctors or getting the right tests done cause if it was their child they would know and they would demand for it to be done. It is hard to know that people think that you aren’t taking care of your son. This year we got referred to a doctor that was our last chance, he made sure that we knew that we were doing what we needed to for Zach and that we were doing everything right, which was nice to hear. He also made sure to let me know that it wasn’t my fault and that we were doing all the things that he would be telling us do. Roughly 11 weeks ago we took Zach to get some tests run, they did a number of things like taking blood, skin samples, spinal fluid and muscle tissue samples and they were running things on them. We finally got preliminary results that show that Zach has defects in the mitochondrial (complex I and complex III) as well as a few other abnormal things. They are still doing more tests but the short and easy answer is…. we have an answer…. Zach has MITO.

We don’t know what that means for him, it will be something that we deal with all the time and it is something that we will be learning how to handle for the rest of his life but we have an answer. He has been on one of the medications given to help this for about 10 weeks and it has been helping so much, I can’t begin to even explain how much it has helped. There is another one that they want him to start on and it is something that we are going to have to fight to get covered or we are going to have to pay out of pocket for. It is expensive and it is something that is supposed to help and the docs want him to be on it. So after Labor Day we will be finding out what we need to do to get it covered for Zach. I also need to set up appointments and try to figure out what things we need to do now. We don’t know what it means for school or anything like that but I feel like the world has been lifted off my shoulders and that I am not crazy and I am not a bad mom.