I should get to work, especially since Jacob is running a low grade fever tonight. It might mean that we're heading in to Children's tonight or tomorrow..especially since he has had more secretions in the last two days. Time will tell as always.
I should, but my head is full of Mito. We had a very long appointment in the Mito Clinic today. It is good that we don't go more than once or twice a year. They are always intense long appointments. We left home shortly after 10 am today, and we were home shortly before 4 pm! Long day!
We did talk about the Jacob Gene. Jacob is missing one tiny enzyme, and that is screwing up his DNA from converting/translating into protein. One tiny very important enzyme. Dr. v. H. is working on replacing Jacob's bad copies of this gene with good copies. That is the final proof needed to be able to publish this new disease. Time is of essence, so they have partnered with a lab in Montreal who does this all the time. They know that two other Labs are trying to prove the same thing right now, and they want to be the first ones! They are hoping to have it all ready to be published in 2-3 months from today. We don't know what gene it is, but we did find out today that the gene has the same name as a movie. In Dr. v. H's opinion it is a "pretty good movie". So, we're now pondering what movie it could be??? Any good guesses? We asked him if he was planning on naming the disease after himself, and it was a clear no. Dr. v. H. is keeping his name for the day he comes up with a treatment. He said that the most common names for new diseases today is the actual name of the gene, especially since this one is also the name of a movie! He did say they would consider Jacob as well, if we wanted that.
Jacob's machinery "the translation function of DNA to protein" is broken. This means that we should not "bang on the machine" or "overuse the machine" more than necessary. This led to us now getting a long list of medications that Jacob should never have...This also contains common antibiotics, so we will see how this will be implemented in practice. This is a 4th letter that now needs to go with Jacob at all times.
This particular broken enzyme involves both Jacob's brain and liver. Dr. v. H. said that there are related enzymes that have recently been discovered, and they do see brain and liver issues in all patients. Jacob's liver function is ok, but there is something with his albumin that is off. We will see a liver doctor for research purposes, and he will also enroll Jacob in Mitochondrial Liver Disease studies.
We also found out that there is a future clinical trial for Mitochondrial treatment that Dr. v. H. will keep us informed of. Right now, it is only open for Leigh's Disease, which Jacob doesn't have.
Everyone was very happy to see how Jacob is doing today, and some of the things he has started to do in terms of communication and intentional movements of his arms. They love to hear that he has been able to go to school, and has had less respiratory infections and seizures. They love to hear about Jacob's friends, and what he loves to do when he is not visiting in the Mito Clinic!
Dr. v. H also wants to research what happened when Jacob took amino acids. For you who might not remember, Jacob took amino acids as a supplement, since his formula was low on amino acids. It resulted in Jacob going into status epilepticus daily for weeks. It was one of the most stressful times we have had with Jacob. When we stopped amino acids, so did the seizures! It was unbelievable. Dr. v. H. wants to see exactly what form of amino acids Jacob got, so tomorrow he will receive the last can of amino acids we have for simple research purposes. I am gladly giving the can away!
We are also going to see if we can remove or reduce one of Jacob's big gun seizure meds...It is a 37 weeks wean plan...Yes, you heard me - 37 weeks! As Gemma said, it doesn't make her nervous if we go that slow, since you can after all cook a baby in that time!
It was a good visit. We got to find out a bit more about Jacob's Gene. We got to share where Jacob is today. After our doctor's visit, we also talked about how Miracles for Mito (www.miraclesformito.org) and the Mito Clinic can continue to collaborate. They were ecstatic that Heather Schichtel and her Courage Classic team Summits for Samantha today on Samantha's birthday reached the goal of $50,000 for Children's Hospital.The money will go directly to the Mito Clinic. It is fun to see doctors being really happy!!! They are excited what the money can do in terms of support for families and Mitochondrial research. There is still time to donate to the Summits for Samantha team at: http://www.couragetours.com/2012/team/summitsforsam
After a full day of Mito, there is one thing that is very important to me tonight. It is to simply remember Jacob's twin sister Samantha who would have been 6 years old today. She was a red haired little girl who was deeply loved by everyone around her. She had many medical complications and diagnoses, but her family could always see passed that, and focus on the lovely little girl she was. My favorite memory of Samantha is her watching a Disney princess movie with Sarah on our living room floor. Two kids hanging out together on a blanket on a summer afternoon. Samantha taught me to not get too hung up on all the scary Mito medical things she and Jacob shared, but to truly see beyond the disease, and to cherish each little moment with these very special kids.
Much love,
Maria.
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