On Monday we had our first appointment with the Metabolic Doc since we received the Diagnosis.
As Rich said you could see us transition from diagnosing to CARE. This was a little hard for me to accept.
I mean we have been caring for her everyday and just because they put a name to her condition, doesn’t change how we CARE for her. The docs may be smarter than us in knowing what to expect but I will not settle for that. I will not just wait for the symptoms to appear. I plan to help Daphne defy the odds and have the best possible life she can.
Ok…I’ll try to hold my anger back a little.
I actually was not too angry during the appointment. It was the first time I actually liked this Doc. He seemed to have more compassion and cared about Daphne.
They watched her laugh and giggle the entire appointment and she even drank a bottle in front of them. She likes a quiet place for eating, including meals, she is easily distracted.
They said she seemed more interactive and happier than before. Which we agreed.
We discussed the next steps.
It appears we will now be seen by the Neurometabolic Clinic which is a group of specialists all needed to care for Daphne.
Neurologist, Dietitian, Nutritionist, Social Worker and Metabolic Docs to name a few.
We asked about current supplements she is on as well as other supplements we have read about or heard other mito kids are on.
Our metabolic doc is not too knowledgeable on supplements, so I hope the Dietitian or Nutritionist will be.
We asked about emergency preparedness plans, general treatment plans because mito kids are different and cannot take some antibiotics and if there is an incident of anything we will know exactly what bloodwork to run and what IV fluids to use (the norm does not work for mito kids, it can actually make them worse), next MRI, bloodwork, testing for Rich and I and the skin biopsy.
The Doc said we can wait approx 1 year for another MRI (unless she has a change) so Daphne can have time to produce more Myelin (the white matter in her brain). Apparently some newborns do not have much Myelin which is why they have Parkinson like symptoms and kids produce most of their Myelin by age 8 but can continue producing it until age 20.
We will take a skin biospy sample from Daphne in the new clinic once we get an appointment which will help them better understand how her body is functioning. SO they say and they better be right for me to agree to punch a hole in her.
Rich and I will get tested for the genes that Daphne has to one see how our family will be impacted and to help them understand more about Daphne. After Rich and I are tested then our parents will get tested.
Daphne not only has the two mutated EARS2 genes which is rare but 4 other genes that are rare but luckily she does not have the pair to make them a problem. This information is pretty unreal!
There is a National Symposium in Seattle starting today that Rich and I were talking about attending but decided not to this year. He wanted the science portion and I wanted the family stuff and we did not want to travel with Daphne and have a lot going on here so we are sitting it out this year. Our San Diego Doc and our Genetic Counselor are both going so I hope they bring back information for us. I know it will not be the same as if we are attending but it will have to do for now.
There are two great websites full of more information than you could possibly want:
UMDF has a mito_first Handbook that explains Mitochondrial Disease
MitoAction has a good Mito 101 Handbook as well but I cannot find it again.