Here is the brief rundown about what Alpers is and how it occurs from www.alpersawareness.org, a website we’ve found to be very helpful…
Alpers Syndrome is an inherited genetic illness that affects the production of energy on a cellular level. Alpers is one of many mitochondrial illnesses and can be diagnosed with a DNA test of the POLG gene. Parents of children with Alpers do not develop the illness because they carry a dominant, healthy POLG gene. However, they also possess a mutation of the gene which can be unknowingly passed on to their child. Alpers occurs only in children who receive the recessive gene from both parents. For parents who both have the recessive gene, there is a 1 in 4 chance of a child having Alpers. Sadly, there is currently no treatment or cure. Alpers has a frequency of about 1 in every 50,000 live births. As many as 1 in 110 individuals may be carriers of the Alpers gene. Many affected children die before an accurate diagnosis is made, so the true frequency remains an estimate.
There are 3 classic symptoms:· Seizures that are very difficult to treat
· Loss of developmental milestones
· Liver disease
Children develop normally for a period of time with 80% developing symptoms within the first two years of life. Although liver disease is often unnoticeable in the early stages of the disease, it may appear at any time as acute liver failure. During the course of the illness, the amount of mitochondrial DNA in the cell (its “powerhouse”) falls below a critical threshold of about 35% of normal. When this happens the mitochondria become sick and begin to misfire, severely affecting the body’s organ systems by denying them the energy needed to function properly. This leads to mental deterioration and liver failure.
Since this is a degenerative condition and transplant is not an option, our biggest concern is Logan’s liver and how it is functioning. We will be following up with the Pediatric Gastroenterologist that saw Logan in the hospital to closely monitor his liver function. This should give us a better idea of prognosis and how much more time we might expect to have with our sweet boy. We will also meet with a Geneticist to go through some genetic counseling and to do some tests on Griffin, Jeff and me.
From a treatment standpoint, we are still working to find the best combinations of medications to control the seizures, while minimizing the vomiting and upset stomach he’s been struggling with. Since his intake of food and fluid is continually decreasing (and it’s easy to understand why, given the previous statement), we are looking into having a feeding port put in. This way we will know he is getting the nutrition and calories he needs, and his quality of life will improve if we don’t have to continue torturing the poor thing with medications that make him sick.
In the meantime, we are doing everything we can to stay positive and enjoy the time we have together. There are so many little blessings we have experienced on this journey, and our mission is to focus on those. While it’s not always easy, I refuse to waste any time or energy on being sad and depressed. God has given me an unexplainable peace about our situation. He has provided a comfort for me that has allowed me not to wonder why or question Him. Don’t get me wrong… this sucks, and I wish more than anything that He would take it away, because I know He can. But he may not, and somehow I’m ok with that. We will make it through this, like many families have before us. We will come out better for it, too. I know my sweet boy was not created for this world. He came into it to bring great joy to me, his dad, his brother and anyone else he came in contact with, and, I believe, to allow us to witness to others that God’s plan is bigger than any of us.
We are so thankful for every prayer, text, card, Facebook message, prayer list, meal and kind thought from all of you. I’ve said it before, but the community around us has been the most powerful thing I have ever witnessed. We are strengthened daily by you all and will never be able to say thank you enough.
We hated to use such an impersonal means of communication to spread such heavy news, but sharing the whole story over and over would be too time-consuming and emotionally draining. Please don’t hesitate to reach out if you have questions or thoughts that I didn’t cover here. We are more than happy to talk about it and answer any questions.
All our love…
Karlee, Jeff, Griffin and our little Logan