The Lockdown of a Disease. What are mitochondrial diseases?

Mitochondrial diseases are chronic (long-term), genetic, disorders that occur when mitochondria fail to produce enough energy for the body to function properly.  Mitochondrial diseases can be present at birth but can also occur at any age.

Mitochondrial diseases can affect almost any part of the body, including the cells of the brain, nerves, muscles, kidneys, heart, liver, eyes, ears, or pancreas.

How common are mitochondrial diseases?

One in 5,000 individuals has a genetic mitochondrial disease. Each year, about 1,000 to 4,000 children in the United States are born with a mitochondrial disease. With the number and type of symptoms and organ systems involved, mitochondrial diseases are often mistaken for other, more common, diseases.

SYMPTOMS

Poor growth. Muscle weakness, muscle pain, low muscle tone, exercise intolerance.

Vision and/or hearing problems. Learning disabilities, delays in development, mental retardation. Autism, autism-like features. Heart, liver or kidney diseases.

Gastrointestinal disorders, swallowing difficulties, diarrhoea or constipation, unexplained vomiting, cramping, reflux. Diabetes. Increased risk of infection.

Neurological problems, seizures, migraines, strokes. Movement disorders. Thyroid problems. Respiratory (breathing) problems. Lactic acidosis (a build-up of lactate).

TREATMENT

There are no cures for mitochondrial diseases, but treatment can help reduce symptoms or slow the decline in health.

Treatment varies from patient to patient and depends on the specific mitochondrial disease diagnosed and its severity. However, there's no way to predict a patient’s response to treatment or predict how the disease will affect that person in the long run. No two people will respond to the same treatment in the same way, even if they have the same disease.

 

Mitochondrial Disease Organizations

United Mitochondrial Disease Foundation (UMDF) https://www.umdf.org/

Organic Acidemia Association https://www.oaanews.org/

Fatty Oxidation Disorder Support Group https://fodsupport.org/

 

 

Never Daunted

Significance of the number 40 (Anke turned forty in 2020)

I am realising more and more that the past forty plus of my sixty-eight years on earth has passed with me pausing life in more than one way, holding my breath… holding my breath

... I have a new quiet hope inside my spirit. I so look forward to continuing this sometimes-painful new let go journey I let myself into, journeying with Ardent in a direction learning to breathe more freely, still some nerves but expectant to really get to know Him in all His fullness.

I need to let go and come up to the surface, to stop holding my breath – to live and breathe fully in the knowledge that He has been my salvation, He did it all for me too, I don’t have to do anything since He knitted me in my mother’s womb. He knew me before my beginning of time (preservation/deliverance from harm/ruin/loss).

According to the Bible, forty is the number associated with waiting, preparation. Also, the Bible often resorts to the number 40 when referring to a new chapter of the history of salvation. On the other hand, forty would indicate the duration of a generation or a long period of time (of pausing one’s life – holding one’s breath?).

Forty also symbolise the death with oneself and spiritual rebirth.

According to R. Allendy, "it is the achievement of a cycle in the world, or rather the rhythm of the cyclic repetitions in the Universe".

According to saint Augustin, forty expresses the perfection "because the Law was given in ten commandments, then it is through the whole world that the Law has been preached, and the whole world is composed of four parts, Orient and Occident, South and North; therefore, by multiplying ten by four, we obtain forty. Or well, it is by the four books of the Gospel that the Law is accomplished."

Forty represent the man incorporated in the Universe and combatting the prince of disorder, according to Claude of Saint Martin.

Forty represent the complete and sufficient period to finish a work, according to Lacuria.

Forty days after birth, Jesus was presented to the Temple of Jerusalem for his legal purification, according to the established law of the time.

The 40 days of fast of Jesus in the desert. (Mt 4,2). Forty days separate the Ascension of Jesus of his Resurrection. (Act 1,3)

The Flood of Noah lasted 40 days. (Gn 7,4)

Elijah walked 40 days and 40 nights before to reach the Horeb mount. He fasted during 40 days before to begin his public ministry and he remained 40 days on the Carmel mount. (1 K 19,8)

The priest Eli had been Judge of Israel for 40 years. (1 S 4,18)

Moses was 40 years old when he was called by God and that he killed an Egyptian and escaped in the desert of Midian. He kept the herd of Jethro for 40 years. He resided finally 40 days and 40 nights to the summit of the mount Sinai before to receive the Tables of the Law. (Ex 24,18)

During 40-day Goliath defied David. The children of Israel lived during 40 years in the constraint with the Philistines. (Jg 13, 1). The Hebrews wandered 40 years in the desert. (Nb 32,13)

The reign of Joash lasted 40 years in Jerusalem. (2 Ch 24,1). The people of Nineveh had to repent for 40 days. (Jon 3,4)

Isaac was 40 years old when he married Rebekah. (Gn 25,20). The embalming of Jacob was prolonged for 40 days. (Gn 50,3)

The reign of David on Israel lasted 40 years, just as the reign of Solomon in Jerusalem. (1 K 2,11 and 11,42; 2 Ch 9,30)

Ezekiel supported the iniquity of the house of Juda for 40 days.

The 40 years of repentance of Adam after his corrupt practice.

Forty is the number of chapters of the book of the Exodus of the Old Testament.

General

Jesus preached for 40 months. It is 40 years after the crucifixion of the Jesus Christ that Jerusalem was taken by the Romans and that the Temple was destroyed. The body of Jesus remained 40 hours in the sepulchre.

The 40 days of the Lent before Easter.

What does the Bible say about God's love? God's love takes many forms throughout the stories of scripture. Parts of the Bible even refer to God as love itself. Love could be explained as wanting the best for someone, and that's exactly what God intends for us. God loves you simply because he loves you. You do not have to work for his affection. You do not have to set yourself straight before God can pour out his love over you.

God absolutely loves you. It is hard to get our minds around, but it is true. This is where the faith journey starts: understanding that God loves you. If you do not have an assurance of God’s love, your faith journey will not last long. Fortunately, reading the Bible can help to strengthen your faith in God's love. There is no force more powerful than the love our heavenly Father has for us, His children. His love can move mountains, stop the roaring seas, heal broken bones and wounded hearts, transform lives, and set free those held captive by sin and shame. So great is his love for you and me that he sent his only Son to die that we might live through him.

God is not an angry taskmaster who shows affection only when you succeed. He is a loving Father who will always love you no matter what. Take time to receive the depth of his love for you today. Allow his love to heal you, transform you, free you, and lead you to the abundant life he has always longed to give. Read, meditate, and pray over these Bible verses about God's love as you walk in faith today.

 

 

  

Catastrophic Loss - 2020

 

‘Catastrophic loss’, according to Jerry Sittser in his book A Grace Disguised, is when you lose something permanently, something never to be right again.

Sittser is of the opinion that catastrophic loss leads to confusion of identity. The situation with Anke and Markus is considered to be a catastrophic loss. They will never get ‘well’; they will never become ‘normal’. Sittser further says that we understand ourselves in large measure by the roles we play and the relationships we have; we find ourselves in what Sittser calls a ‘vertigo’ when these are changed or lost forever.

Our Anke-and-Markus reality makes us function mostly on the outskirts of ‘normal’ life when it comes to life’s milestones. ‘Exclusion’ is the word that jumps to mind. We function behind the wings on life’s stage, mostly reluctant to fully step forward and participate in community. We have grown into our own warped sense of belonging over a period of 40 years.

In my head I am still a young dad, because Anke and Markus will forever be infants. In my psyche, my life got parked at age 32 on a sunny afternoon near Tarlton by the side of the tar road under a cluster of dusty blue-gum trees. I had to stop – or rather, the car rolled off the road and came to a stop – for a long time, as I was blinded by tears after the truth about my children had been told to us. We said goodbye to Anke and Markus under those trees that day. No more hopeful denial, only truth. We left our perfect, normal-in-our-heads children next to the road under the blue-gum trees and in their stead buckled up two beautiful broken little strangers into the kiddies’ seats in the back of the car.

You’d think one learns over time to deal with catastrophic loss. The reality is that you have to deal with it from day to day. You learn to navigate your normal life around it every time it hits you. Some days are better than others. On days when it really catches up with you, like yesterday, you just go into deeper isolation than usual, dealing with it the best you know how for that occasion. It, too, usually also passes, until the next time.