A person with Mitochondrial disease may have different sets of symptoms and will have varying degrees or levels of their symptoms. No two patients are exactly alike. Each one is different. Doctors cannot predict what mito symptoms a person will have and when, unlike other types of diseases where it is more or less predictable. Everything is always wait and see.
On a daily basis, Sabina is given what they call a vitamin cocktail as part of "treatment". Not a guarantee, but vitamin supplements are given to help with the energy and metabolic deficiencies she may have. She also takes sodium bicarbonate to prevent high acidity levels in her body which could be very detrimental.
Sabina at 2 years 9 months, is like a 5-6 month old baby. Mito has caused her to be severely developmentally delayed. Both her gross and fine motor skills are affected. Although she is almost 3, Sabina cannot stand, or walk, much less sit unsupported. She always needs to be held or else she topples over. Food is also mashed as chewing is also not developed well. At her age, Sabina also cannot talk. She does not babble. She makes some cooing sounds and grunts but nothing more. Mito has affected cognitive skills and emotional responses too; so she hardly cries or laughs/giggles or responds like normal babies/toddlers do. But when she does cry, or laugh or giggle, it is sweet music to my ears and a sound to behold. Those instances are not often, so when it happens, they are treasures to remember and savor.
Sabina's day is quite the routine. Very little will change what happens within her day. (unless there are doctor's appointments, visits to family or the occasional swim or trips out of town) Here's a schedule of what Sabina's day is like.
8:30am - wake up, take vitamin C and carnitine,
8:45am - go out with the stroller to take in a little sun and fresh air
9:00am - eat breakfast that contains vitamins that are pounded -- Thiamine, COQ10, Riboflavin.
10:00am - try to poop
10:15am - drink Keppra, the anti seizure meds, dissolved in water while watching Playhouse disney/Nick Jr. or a sesame street video while playing blocks with mom or going through picture books (these 3 activities Sabina enjoys. She will smile and her eyes light up)
10:45am - prepare for her bath. (2 people need to give her a bath. One to hold her and help support while the other bathes)
11:30-12noon - drink Sodium Bicarbonate mixed in milk and prepare for nap.
2:00pm - awake from nap, take Carnitine again.
2:15pm - eat light lunch that contains again COQ10, Vitamin E and Riboflavin
3:00pm - Physical/Occupational Therapy session (this is 3x/week done at home) (on days there are no therapy, I may do a few exercises with her, or I use it to play with her and read or do flash cards. Or now that its summer, we may go out for a swim)
4:30pm - Rest from therapy and drink milk with sodium bicarb
5:00pm - out with the stroller again to get fresh air and sun
5:30pm - Watch Baby Einstein or videos, or help her play with toys. Take carnitine.
630pm - Eat dinner mixed with COQ10, Thiamine and Water with Keppra once more.
7:30-8:30pm - Sabina's time with Daddy, Sophia and Mom together. We interact with her and try to make her laugh and smile.
8:30pm - Prepare for bed, take carnitine and Vitamin C.
9:00pm - Milk with Sodium bicarbonate
4:30am - even when asleep, milk is given with sodium bicarbonate. (We cannot miss giving this. So our alarm clock goes off at this time)
And at any given time of her day, Sabina gets her seizures which have now become a normal part of her everyday life. When she does have a seizure, it zaps the energy of out her and she gets very very tired. With the deficient energy that her body is able to produce, seizures take the little that is left.
But all in all, we've learned to capture the good moments, to enjoy hugging her, kissing her, catching those smiles and cheering at her laughs, and just finding the joy in having Sabina communicate with us in her own special way. It's sure a different life from a typical family, but for us, it is our portion and our cup, and for now our season in life.
Acts 17:26b-28 "....and He determined the times set for them and the exact places where they should live. God did this so that men would seek Him, and perhaps reach out for Him and find him, though He is not far from each one of us. For in Him we live, and move and have our being."