Nitty Gritty Dirty Grief

Jacob- For Mitochondrial Awareness Week- by Maria

Tonight’s post is from our Vice-President and Mom-to-Jacob; Maria.

Jacob and Samantha were very similiar in thier presentations. I am often reminded of Samantha when visiting Jacob. Here is their story:

I often get the question “tell me about your son Jacob”. This is what I would tell you, if you are…

His Doctor:

Jacob has an unspecified Mitochondrial Disorder with deficiencies in Complex I and Complex IV. Jacob’s primary issues are epilepsy and his weak respiratory system. Jacob has severe epilepsy that is not fully controlled. Jacob’s seizures are divided into the following categories: Grand Mal, Complex Partial, Staring Spells, and Myoclonic Seizures. Jacob also has Oculogyrical crises, which are currently fully controlled. Jacob has several movement disorders (chorea, dystonia, and myoclonus), all of his movement disorders are controlled.

Jacob aspirates, and uses his g-tube for all food and medications. Jacob has central sleep apnea, and uses a bi-pap at night. He also uses oxygen as needed during the daytime. Jacob has low muscle tone, and needs full support of his body at all times. Due to Jacob’s weak respiratory system, Jacob uses a cough assist and vest treatments 4 times a day. Jacob gets nebulizer treatments 4 times a day, and is on Tobramycin every 2nd month to prevent pneumonia.

Jacob has global developmental delays. Jacob is non-verbal. Jacob has good hearing and vision. Jacob is not in pain. And I am sure I am forgetting several things…

His Teacher:

Jacob loves school. Jacob has always loved being surrounded by people, and kids are of course the best! The goal for Jacob in school is for him to be with kids his age. We are not looking at educational goals, e.g. reading, writing, and math. We simply want Jacob to be with other kids, and do as many things he can with his buddies.

Jacob loves music, loves having books read to him, loves going on the swing, loves doing an art project with the help of his teacher, loves playing with play-doh, and loves playing with finger paints. His new passion is Orbeez, which he very much enjoys to dip his hands or feet in!

Jacob loves when his friends take him in his chair around the classroom, to the gym or to the playground. Jacob loves playing with balls on the playground! Jacob is hoping he can be in school as much as possible during the school year, so if everybody could wash their hands carefully and stay home if they don’t feel well, Jacob can stay out of the hospital as much as possible.

His Therapist:

The only proven treatment for Mitochondrial Disorder to slow down further damage to the patient’s Mitochondria is exercise. It might be contradictive, since someone living with Mitochondrial Disorder is low on energy, and exercise will of course use up energy, but low energy exercises are very beneficial to Jacob. If you are not using your muscles for a while, you know what I am talking about. I remember how quickly I lost my muscles in my leg after my knee surgeries.

Therapy is therefore key to Jacob’s health. We want to work on Jacob’s range of motion and flexibility at all times, since Jacob needs help to move from each position throughout the day. We want to work on sitting. We want to get in the warm water pool at school each week to give Jacob as much freedom and movement of his body as we possibly can!

And speech therapy – how do you do communicate with a non-verbal kiddo? It is definitely not a challenge for every speech therapist, so we feel so fortunate to have a speech therapist, who is willing to work with Jacob on finding ways for him to communicate. We know that Jacob knows how to make choices with his eyes. Jacob also moves his lips to verbalize, and from time to time, we also get a vocalization. Jacob also has very subtle communication with how he moves his head, and how he uses his whole body to communicate if he doesn’t like a certain thing.

Jacob smiles when he is feeling good. Our speech therapist thinks outside the box, and doesn’t think that verbal communication is the only way to communication – and isn’t that true for all of us?

Our Friends and Family:

Despite Jacob’s Mitochondrial Disease, that is not the thing I want to tell you about Jacob because it is not what defines him. Jacob is the toughest and bravest kid that I know. He has a connection to life that I knew very few have. He has been close to death several times in his short life, and every time, he has decided to choose life. He has decided to fight against all odds. That is why Jacob’s illness is not defining him.

He is a kid who needs tremendous support and help in life, but he is at the same time someone who has a full life. He is very loved. Not just by his family, but by so many people around him. Despite Jacob not being able to talk, we close to him can see all the ways he communicates with us. He is a kiddo who goes to school, who works on his therapies every day of the week.

Jacob has dinner with his family every night, he plays in the pool in the summer. Jacob loves reading, cuddling, music, and yes his weekly massage! I am jealous every Wednesday morning when Jacob gets his full body massage…Jacob just sighs out of pure content.

It is Mitochondrial Awareness Week. I could write lots and lots about what Mitochondrial Disease is and what it does to a child and family living with it, but the message I want to leave you with today is that despite this disease, the basic needs of life is the same.

Independently, if you are a doctor, a teacher, a therapist, or simply a friend of Jacob and us, please try to see beyond the disease, and see the person Jacob is.

With love,
Maria HopfgartenVice-President, Miracles for Mito

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