Friday, September 13, 2013


We have been in a comfortable place for several months. Jacob has been healthy. Jacob has been thriving. He has gone to school consistently for several months. Jacob is doing incredibly well with his speech device. He is telling us things we just didn't think his buzzing brain could tell us. Jacob is improving in physical therapy. He is again sitting up with only a little support of his shoulders. It might not seem like a big deal, but for the last years Jacob has had little to no head control. Now, he can hold his heavy head up for close to 10 minutes. 10 minutes! Jacob is batting objects again. Jacob is standing in his stander again. Jacob is a happy content boy when he doesn't constantly have to fight viruses and infections or those dreaded seizures. We don't know for sure what has changed, but we think the magical non-FDA approved drug epi-743 is part of Jacob feeling so great. Improved immune system and increased alertness are consistently reported with the use of epi. We suddenly have both. They are gifts of life, and it makes me incredibly happy to see where our boy is today.

No matter how happy we are in our little bubble at home, Jacob's mitochondrial disease is a fact and we do get reminded of it every time we sit in the doctor's office. As Jacob has outlived his prognosis with 4 years, we are again confronted with hard decisions I honestly never thought I would have to face. Decisions where there is no right or wrong answer. Decisions where the big question is to do or not to do.

Jacob is growing. He has always been at the high percentile for weight and height. As Jacob is growing, we now need to carry him sideways thru doors in order for his feet or head to not get stuck. We can't just sit holding him in a chair any longer. We need a second chair for his legs and feet to rest. My body is tired after a full day of transfers from morning til evening. Jacob's endocrinologist want us to consider stopping Jacob's growth. She can see how involved his care is, and how many transfers we have to do in a day. No hormonal treatments come without side effects, seizures being the biggest possible side effect for us. In the last couple of months, we have discussed this option with Jacob's medical core team, and the short answer is that there is no quick and easy answer. Some feel we should not rock the boat, and simply let Jacob grow. Some feel that caring for Jacob and keeping him at a smaller size is a key part of his medical care. The big question is to do or not to do?

Jacob is an obstructive breather. Jacob needs deep suctioning multiple times every day to clear his secretions. Jacob has an extensive pulmonary toileting program taking hours each day to keep his lungs clear. In the last couple of months, we have noticed that Jacob's gag reflux has weakened. This is most likely happening from us having deep suctioned Jacob multiple times every day for years...that is a lot of deep suctioning. If we can't keep Jacob's lungs clear with deep suctioning, a tracheostomy would be the only option to keep Jacob's lungs clear. We have battled this decision in the past. The question is do we continue down the road we are right now with our pulmonary toileting, since pneumonias have been far apart or should we be proactive about it? To do or not to do?

Jacob's clinical seizures are well controlled today. We execute his seizure action plan maybe every 4-6 weeks right now. Of all things in Jacob's life, uncontrolled seizures are the hardest to live with. They are dangerous to Jacob, and we so often have absolutely no way of stopping them. There is a feeling of being out of control and fear for Jacob's life. When Jacob goes into status epilepticus multiple times a day, we have no life. We basically just sit and wait for the next seizure, and debate on when is the right time to bring him to Children's. I will never get used to Jacob's seizures. To control his epilepsy, Jacob is on more seizure medications than is good for any human being. They eat at his liver, and none of them come without side effects. We have over the last couple of years been able to reduce Jacob's seizure medications drastically, but he still gets a shit load of medications every day. We're going into fall, which typically means more infections and seizures for our boy. Do we still try to reduce his medications once again or do we keep things as they are, since seizures are at bay? To do or not to do?

In times of hard decisions, I wish I could peak into the future. I wish I would have a better sense of Jacob's future, and knowing if now is the right time to act or not. We never want to do any medical intervention that is not absolutely necessary. At the same time, we know with Jacob having a progressive disorder, that there might come a time when there is too late for certain interventions. We also know that sometimes a straight-forward medical decision will open up a can of worms. Devastating side effects nobody would have ever thought would be possible...To do or not to do? It keeps my mind occupied, always wanting to do the right thing for our boy.

As I was preparing dinner the other night, Sarah and Jacob were sitting at the kitchen table both working on their homework. Gemma was helping Jacob to fill out his paper about good behaviors to use in class. Sarah was sitting next to him doing her Spanish homework, and telling her brother to pick the "not so good behavior", and of course he went with what sister wanted. It was one of those perfect moments of my two kids interacting in their own way. I am just not sure I am ready to rock the boat as things are pretty darn good.

Love, Maria.


  1. Hi Maria, I have been in the same place regarding a treatment to keep Aislinn small. It is a shitty place to be. For us it was the right thing to do until she had an acute case of delirium and higher seizure activity. She spent 8 days in the hospital without a definitive answer as to what caused the delirium. Could have also been the altitude and new environment. The thing about the hormone treatment is that it can be stopped and started again. So your decision does not have to be set in stone. Frankly, David and I are on opposite sides in beginning the treatment again. If we start again, we will take 6-9 mos to reach the dosage because it wrecked havoc on her body trying to do it in 5 weeks time. You will have the strength and wisdom to do the best thing for you and Jacob. My thoughts and prayers are with you as you make this DIFFICULT decision. Hugs, Michelle

    1. Thank you, Michelle! We should talk...

  2. Maria, I don't have the same issues to deal with as you but as you know we have had to make many hard medical decisions. Personal opinion, Seems to me that Jacob is having a life worth living right now. You all have a good quality of family life now and maybe that gives you the answers you are looking for. What needs to be done or not done to ensure this quality of life is maintained as much as possible.

    1. Thank you so much for your wise words, Janet! I know you have had many trials as well.