Different Is Beautiful

The Diagnosis

Lilly was diagnosed with a rare genetic disorder when I was about 10 weeks pregnant with her. She has an unbalanced translocation of chromosome 8 and chromosome 10. While a typical person should have 2 copies of each chromosome she got 3 copies of her 8th chromosome and only 1 copy of her 10th chromosome. Each getting attached to the other.

Complications include:

Hydrocephalus (she has a VP shunt)

Hearing impairment (she wears hearing aides)

Eye abnormalities (she wears glasses)

Feeding issues/Failure To Thrive

Sensory Intergration Disorder

Small stature

GERD

Central sleep apnea

Congenital Heart Disease

Congenital Kidney Disease

Grade IV Kidney Reflux

Hypocalcaemla

Hyperkalemia

Acidosis of her blood

Global Developmental delays

Surgeries so far:

VP Shunt placement May 2010

VP Shunt revision December 2010

Bilateral Ureterostomy December 2010

Chromosomal translocation From Wikipedia

In genetics, a chromosome translocation is a chromosome abnormality caused by rearrangement of parts between nonhomologous chromosomes. A gene fusion may be created when the translocation joins two otherwise separated genes, the occurrence of which is common in cancer. It is detected on cytogenetics or a karyotype of affected cells. There are two main types, reciprocal (also known as non-Robertsonian) and Robertsonian. Also, translocations can be balanced (in an even exchange of material with no genetic information extra or missing, and ideally full functionality) or unbalanced (where the exchange of chromosome material is unequal resulting in extra or missing genes)

Hydrocephalus From Wikipedia

Hydrocephalus, (pronounced /ˌhaɪdrɵˈsɛfələs/), also known as "water on the brain," is a medical condition in which there is an abnormal accumulation of cerebrospinal fluid (CSF) in the ventricles, or cavities, of the brain. This may cause increasedintracranial pressure inside the skull and progressive enlargement of the head, convulsion, tunnel vision, and mental disability. Hydrocephalus can also cause death. The name derives from the Greek words ὑδρο- (hudro-) "water", and κέφαλος (kephalos) "head".

VP Shunt From Wikipedia

Cerebral shunts are commonly used to treat hydrocephalus, the swelling of the brain due to excess buildup of cerebrospinal fluid (CSF). If left unchecked, the cerebral spinal fluid can build up leading to an increase in intracranial pressure (ICP) which can lead to intracranial hematoma, cerebral edema, crushed brain tissue or herniation.^[1]The cerebral shunt can be used to alleviate or prevent these problems in patients who suffer from hydrocephalus or other related diseases. Shunts can come in a variety of forms but all of them consist of a pump or drain connected to a long catheter, the end of which is usually placed in the peritoneal cavity. The main differences between shunts are usually in the materials used to construct them, the types of pumps used, and whether the pump is programmable or not.^[2]

Gastroesophageal reflux disease (GERD) From Wikipedia

Gastroesophageal reflux disease (GERD), gastro-oesophageal reflux disease (GORD), gastric reflux disease, or acid reflux disease is chronic symptoms or mucosal damage caused by stomach acid coming up from the stomach into theesophagus.^[1] A typical symptom is heartburn.

GERD is usually caused by changes in the barrier between the stomach and the esophagus, including abnormal relaxation of the lower esophageal sphincter, which normally holds the top of the stomach closed; impaired expulsion of gastric reflux from the esophagus, or a hiatal hernia. These changes may be permanent or temporary ("transient").

Another kind of acid reflux, which causes respiratory and laryngeal signs and symptoms, is called laryngopharyngeal reflux(LPR) or "extraesophageal reflux disease" (EERD). Unlike GERD, LPR is unlikely to produce heartburn, and is sometimes called silent reflux.

Hyperkalemia From Wikipedia

Hyperkalemia (hyperkalaemia in British English, hyper- high; kalium, potassium; -emia, "in the blood") refers to the condition in which the concentration of the electrolyte potassium (K⁺) in the blood is elevated. Extreme hyperkalemia is a medical emergency due to the risk of potentially fatal abnormal heart rhythms (arrhythmia). The prefix hyper- means high (contrast withhypo-, meaning low). Kal refers to kalium, the Neo-Latin for potassium, and -emia means "in the blood."

Normal serum potassium levels are between 3.5 and 5.0 mEq/L;^[1] at least 95% of the body's potassium is found inside cells, with the remainder in the blood. This concentration gradient is maintained principally by the Na+/K+ pump.

Acidosis From Wikipedia

Acidosis is an increased acidity in the blood. (i.e., an increased hydronium ion concentration). If not further qualified, it usually refers to acidity of the blood plasma.

Acidosis is said to occur when arterial pH falls below 7.35 (except in the fetus- see below), while its counterpart (alkalosis) occurs at a pH over 7.45. Arterial blood gas analysis and other tests are required to separate the main causes.

The term acidemia describes the state of low blood pH, while acidosis is used to describe the processes leading to these states. Nevertheless, the terms are sometimes used interchangeably. The distinction may be relevant where a patient has factors causing both acidosis and alkalosis, wherein the relative severity of both determines whether the result is a high or a low pH.

Hypocalcemia From Wikipedia

In medicine, hypocalcaemia (or hypocalcemia) is the presence of low serum calcium levels in the blood, usually taken as less than 2.1 mmol/L or 9 mg/dl or an ionized calcium level of less than 1.1 mmol/L or 4.5 mg/dL. It is a type of electrolyte disturbance. In the blood, about half of all calcium is bound to proteins such as serum albumin, but it is the unbound, orionized, calcium that the body regulates. If a person has abnormal levels of blood proteins, then the plasma calcium may be inaccurate. The ionized calcium level is considered more clinically accurate in this case. In the setting of low serum albumin (frequently seen in patients with chronic diseases, hepatic disease or even long term hospitalization), the formula for corrected calcium is: CorrCa = Measured serum Ca + [(4.0 - measured serum albumin) * 0.8]. Thus, if the albumin is low, the measured calcium may appear low when in fact it is physiologically within normal limits.

Bilateral Ureterostomy From Wikipedia

A ureterostomy is the creation of a stoma (a new, artificial outlet) for a ureter or kidney.

The procedure is performed to divert the flow of urine away from the bladder when the bladder is not functioning or has been removed.

There are two basic types of urostomies. The first features the creation of a passage called an "ileal conduit." In this procedure, the ureters are detached from the bladder and joined to a short length of the small intestine (ileum). The other type of urostomy is cutaneous ureterostomy. With this technique, the surgeon detaches the ureters from the bladder and brings one or both to the surface of the abdomen. The hole created in the abdomen is called a stoma, a reddish, moist abdominal protrusion. The stoma is not painful; it has no sensation. Bilateral ureterostomy. This procedure brings the two ureters to the surface of the abdomen, one on each side.

Central Sleep Apnea From Wikipedia

Central sleep apnea (CSA) or central sleep apnea syndrome (CSAS) is a sleep-related disorder in which the effort to breathe is diminished or absent, typically for 10 to 30 seconds, either intermittently or in cycles and is usually associated with a reduction in blood oxygen saturation.^[1]^[2] It is a collective term referring to two breathing disorders: Cheyne-Stokes respiration and periodic breathing.^[3] CSA is usually due to an instability in the body's feedback mechanisms that control respiration.^[4]

Sensory Integration Dysfunction From Wikipedia

Sensory integration dysfunction is a disorder characterized by a neurological sensory integration deficit.^{[citation needed]} The more current diagnostic nosology(Miller et al., 2007) uses the term sensory processing disorder to describe this condition.

Sensory integration dysfunction (SID) was first studied in-depth by Anna Jean Ayres. Ayres describes sensory integration as the ability to organize sensory information for use by the brain. An individual with sensory integration dysfunction would therefore have an inability to organize sensory information as it comes in through the senses.^[1]

Hypotonia

Hypotonia is a state of low muscle tone^[1] (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is not a specific medical disorder, but a potential manifestation of many different diseases and disorders that affect motor nerve control by the brain or muscle strength. Recognizing hypotonia, even in early infancy, is usually relatively straightforward, but diagnosing the underlying cause can be difficult and often unsuccessful. The long-term effects of hypotonia on a child's development and later life depend primarily on the severity of the muscle weakness and the nature of the cause. Some disorders have a specific treatment but the principal treatment for most hypotonia of idiopathic or neurologic cause is physical therapy and/oroccupational therapy for remidiation.

Hypotonia is thought to be associated with the disruption of afferent input from stretch receptors and/or lack of the cerebellum’s facilitatory efferent influence on the fusimotor system, the system that innervates intrafusal muscle fibers thereby controlling muscle spindle sensitivity.^[2] On examination a diminished resistance to passive movement will be noted and muscles may feel abnormally soft and limp on palpation.^[2]Diminished deep tendon reflexes also may be noted.

Lilly's Favorite Things Right Now

Bathtub magnets
Spinning
Baby Einstein Pandora station
Yo Gabba Gabba DVD's
Walking-Hopping-Running in her hot pink gait trainer
Everything in her sensory box
Pushing the button on her farm magnet game
Sitting on the dryer
Opening and shutting drawers
Watching tv close up
PeekABoo through the slats in her crib
Watching Mommy clap and sing karaoke
Listening to her teacher Anna sing into her microphone
Playing in her 'rice box'
Plucking ornaments off the Christmas tree
Cruising around in her walker (gait trainer)
Any food involving apple sauce
Apple juice from an open cup...yes, a little messy...but totally worth it
Being tickled by her daddy
Books!
Chica....'nuff said
Mommy's Iphone
Napping in the car
When her therapists put their coats on....signaling that they are leaving

Lovely Quotes

Even if you do not make a sound, God hears you.
Sometimes, the smallest things take up the most room in your heart.
God bless the broken road that lead me straight to you.
A happy heart is good medicine and a cheerful mind works healing.
Even amid your distress, trust that God loves you & that God loves those you love even more than you do..
Be full of life, so that there is no space for anything but happiness within you.
There's a way forward. To find it, start moving.
A wise man is he who does not grieve for the things which he has not, but rejoices for those which he has.
Today is the day the lord has made
I fall, I rise, I make mistakes, I live, I learn, I've been hurt but I'm alive. I'm human, I'm not perfect but I'm thankful.
If you have trust in God, you have no need to worry, for he who has his heart open to God, is also open to miracles.
Strength does not come from physical capacity. It comes from an indomitable will.
I felt like a hindu goddess, holding a sword, a pen, a spoon and a magic wand in my four powerful arms. I knew, even then, that this was no ordinary daughter. And that I would need those four arms to mother her.
Consistent effort, no matter how small, sparks magic, fills sails, butters bread, turns tides, instills faith, summons friends, improves health, burns calories, creates abundance, yields clarity, builds courage, spins planets, and rewrites destinies.
‎We all live with the objective of being happy; our lives are all different and yet the same.
Happy moments, Praise God. Difficult moments, Seek God. Painful moments, Trust God. Every moment, Thank God.
The truth is better than perfection.
Too many times, we talk to God about how big our mountains are when we should be talking to our mountains about how big our God is.
‎Keep your face to the sunshine and you cannot see the shadows.
Humor is mankind's greatest blessing.
Every day holds the possibility of a miracle.
I am neither an optimist nor pessimist, but a possibilist.
‎One day you will realise that material things mean nothing, all that matters is the well-being of the people in your life.
I know where I'm going and I know the truth, and I don't have to be what you want me to be. I'm free to be what I want.
Any fool can criticize, condemn and complain; but it takes character and self control to be understanding, forgiving and loving.
Go as far as you can see; when you get there you'll be able to see farther.
‎Happiness is derived from the way you see life, it depends on your thoughts, not on what you have or what you do not have.
Laughter is higher than all pain.
Allow your family to be what it is rather than what you think it should be.
I didn't think it was possible to feel that kind of pain and still live. I'm here to tell you, it is.
Somedays I feel blessed and some days I feel paralyzed with heartache.
To keep our faces toward change and behave like free spirits in the presence of fate is strength undefeatable.
Life has no other discipline to impose, if we would but realize it, than to accept life unquestioningly.
Lord, bless our week. May we recognize that the simple things in life are the most extraordinary.
‎'The longer I live the more beautiful life becomes.
We either make ourselves miserable, or we make ourselves strong. The amount of work is the same.
Today, live with confidence that God has a wonderful purpose for your life, a destiny that is filled with promise and hope.
Let her sleep for when she wakes, she will move mountains.
There are moments of interaction and progress that will steal your breath. Hugs and kisses are unbelievably precious. And you will understand why this little soul was given to you. It’s because you are a perfect match for one another. And that is what sustains you through everything else.
You are God’s most prized possession. When He made you He stepped back and said, “That was good.”
Life doesn't get easier, you just get stronger.
Courage doesn't always roar. Sometimes courage is the quiet voice at the end of the day saying, I will try again tomorrow.

Life Lessons For Lilly

A problem is a chance for you to learn.
Don’t pray when it rains if you don’t pray when the sun shines.
What lies before us and behind us are tiny matters when compared to what lies within us.
Don’t dwell on the past or worry about the future for too long. Right now is life. Live it.
No matter how many mistakes you make or how slow you progress, you are still way ahead of everyone who isn’t trying.
You never know how strong you really are until being strong is the only choice you have.
Don’t forget to enjoy your journey!
If you want to feel rich, just count all the great things you have that money can’t buy.
You have to fight through some bad days to earn the best days of your life.
Perception is reality.
No matter how much progress you make there will always be the people who insist that whatever you’re trying to do is impossible.
You’re stronger than you think you are.
However good or bad a situation is now, it will change. Accept this simple fact.
Follow your heart. Don’t waste your life fulfilling someone else’s dreams and desires.
Be curious. Don’t be scared to learn something new.
Every mistake you make is progress.
Laugh when you can, apologize when you should, and let go of what you can’t change. Life is short, yet amazing. Enjoy the ride.
Be who you were born to be.
Be respectful of others and make them feel good.
Don’t worry too much about what other people think about you.
Accept and embrace change.
Commit yourself to making lots of mistakes.
Don’t compare yourself to others. Instead, let them inspire you.
Don’t try to please everyone. Just do what you know is right.
Say, “Please,” “Thank you,” “I’m sorry” and “I love you,” when you should.
Always have a plan. But never expect to stick to it.

Different Is Beautiful

Saturday, May 5, 2012

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