Romans 5:3-5

"We can rejoice, too, when we run into problems or trials, for we know they help us develop endurance. And endurance develops strength of character and character strengthens our confident hope of salvation. And this hope will not lead to disapointment. For we know how dearly God loves us, because he has given us the Holy Spirit to fill our hearts with his love." Romans 5:3-5

Thursday, 19 May 2011

Zachary Isaac Klassen medical diagnosis

1.     Idiopathic Hypoparathyroidism
Idiopathic is an adjective used primarily in medicine meaning arising spontaneously or from an obscure or unknown cause.
Hypoparathyroidism is the combination of symptoms due to inadequate parathyroid hormone production.  This is a very rare condition. 
Hypoparathyroidism is the state of decreased secretion or activity of parathyroid hormone (PTH).  This leads to decreased blood levels of calcium and increased levels of blood phosphorus.
Calcium affects every cell in the body. Most people usually think about teeth and nails in connection with calcium but in fact its effects are on the whole body. Low and high calcium levels produce a spectrum of physical, emotional and neurological symptoms.  Zach’s calcium levels are very unstable.  An extreme level, either high or low can be very scary for him.
Symptoms can range from quite mild to more severe. From painful muscle cramps to seizures, comma and heart failure. These are some of the symptoms that Zach deals with on a daily basis.  Tingling, muscle spasms, facial pain, muscle cramps and rigidity, weakened tooth enamel, abdominal pain, leg pain, burning sensation, hand and feet numbness and pain, hard to awaken, fatigue, weakness, anxiety, throat spasms, nervousness, headaches, depression, mood swings and memory problems.  Zach also has several kidney stones in both kidneys.
All endocrine disorders have a synthetic replacement (i.e. Diabetes/insulin).  The hormone replacement for Hypopara is being studied thru clinical trials in the U.S.  It is called PTH 1-34.
In the mean time, the therapy for Hypopara is a drug called Rocaltrol. Rocaltrol (calcitriol) is a synthetic vitamin D analog which is active in the regulation of the absorption of calcium from the gastrointestinal tract.  
  • For whatever reason (they do not know why) Zach’s Calcium levels will not stabilize.  He waxes and wanes.  He is also extremely symptomatic on this medication.  Zach’s been on this medication for one year and is already experiencing the “late occurring “side effects.  The bold marked symptoms are the ones he is already having.
  • Side effects occurring early may include:
    Bone pain, constipation, dry mouth, extreme sleepiness, headache, loss of appetite, metallic taste, muscle pain, nausea, vomiting, weakness

·         Side effects occurring later may include:
Abnormal thirst, apathy, arrested growth, dehydration, elevated blood cholesterol levels, excessive urination, extremely high body temperature, high blood pressure, inflamed eyes, intolerance to light, irregular heartbeat, itchy skin, kidney problems, loss of appetite, night time urination, runny nose, sensory disturbances, urinary tract infections, wasting of muscles or other tissues, weight loss, yellowish skin
 Zach has several other diagnoses.
2.     Gastro Intestinal Reflux Disease
Gastroesophageal reflux disease, commonly referred to as GERD or acid reflux, is a condition in which the liquid content of the stomach regurgitates (backs up or refluxes) into the esophagus.

3.      Familial Dysautonomia   
 A genetic disorder that affects the development and survival of certain nerve cells. The disorder disturbs cells in the autonomic nervous system, which controls involuntary actions such as digestion, breathing, production of tears, and the regulation of blood pressure and body temperature. It can create problems with speech, movement, swallowing and G.I. motility.   It also affects the sensory nervous system, which controls activities related to the senses, such as taste and the perception of pain, heat, and cold.  

Zach’s body does not refer the messages to his brain properly.  An example of this is his difficulty telling the difference between something that’s cold or something that is wet.  He never tells us he is hungry and has to be reminded that he “has” to eat. Zach’s body is in constant pain.   However, because his nerves do not send the messages to his brain properly, he doesn’t even really understand what pain is or how it affects him.

4.      Periodic Limb Movement Disorder 
Periodic limb movement disorder is a sleep disorder characterized by rhythmic movements of the limbs during sleep. The movements typically involve the legs, but upper extremity movements may also occur. Movements occur periodically throughout the night and can fluctuate in severity from one night to the next. They tend to cluster in episodes that last anywhere from a few minutes to several hours.  This disturbance in sleep causes excessive daytime sleepiness.  Zach is on oxygen at night to try and help him rest easier.

5.       Organic Brain Damage
At birth, Zach had hypoxia to the brain.  He stopped breathing and had to be intabated.  This        (along with several other factors)  have limited his capability to do many things.  He is bright and has a good sense of humor. However sarcasm is not something he understands.  He is very literal.  If something is “a piece of cake”....he thinks desert is on its way!

What does all this mean for Zach?
*       Zach is a tough little boy.  He has been sick all his life and has just taken it in stride.  Recently he has begun to realize that he is sick.  That not everyone has to go to the lab and get their blood taken a couple times a week or sit through endless appointments and be poked and prodded.  He gets upset because he has to miss stuff or plans change.  Sometimes the hardest part is that he knows he is sick and just can’t keep up with everyone else.  It makes him very sad.
*       We make every effort to always be positive with him.  We explain to him that our world is not perfect and neither are our bodies.  That God has a plan for him and he has already helped so many people.  Zach has been able to show other kids at the lab how easy it is to take blood and holds their hands and tells them” it’s ok” when they are crying.  He is a compassionate boy who desires to be accepted and understood. 
*       What does this mean for our family?
*       For many years now Perry, myself and our families have carried the weight of this burden both emotionally and financially.  At first you think, he will get better, this hard time will pass.  Then after a couple years you become angry and resentful because you see other families with healthy kids getting on with life. Doing things your family cannot do.  Then eventually you realize that we have no control over the circumstances in life that come our way.  That the only thing you can control in a crisis is your conduct.
*       Zach will often say things like, “I will be glad when I get to Heaven cuz then my tummy won’t hurt any more”.   This cuts me to the core.  Or watching the faces of Jake, Olivia and David as they watch Zach as he has a calcium low or an abdominal attack.  Their brother curling up and crying in pain....their scared faces.  How to answer Jake (10 years old) asking if his brother is going to die.  Telling him that everyone dies and that no matter what happens God is in control and we need to trust Him and thank Him for the grace and strength to deal with whatever comes our way. 

The next step
Perry and I are attending the Hypoparathyroidism Conference in Rockville, Maryland June 2, 3 and 4th.  The leading Doctors and researchers in this condition will be there. We are hoping to gain more knowledge on this condition.

We know that Zach is a chronically sick child.  Our goal is to look into other treatments to ease the symptoms he has and to provide him with the best quality of care we can.   The Doctors here have not been able to determine “why” Zach has these disorders. Is it Genetic or Autoimmune?   They have exhausted all the genetic testing available here.  After many hours of reading, we think Zach has a mutation in his calcium receptor gene or and auto immune disorder called APS type 1.  These questions (along with pages of other questions) are what we hope to find some answers to when we attend this conference.

1 comment:

  1. Sorry everyone. I do not know why its posting in grey????? its super hard to read and I cannot figure it out!!!! Tanis