I just don't know...

It's really hard to talk about sometimes. I wonder if there isn't more I should be doing? I have finally had to admit (to myself) that G is not going to be ready for mainstream school next fall. Not only is he super small, he just doesn't understand things other kids do. I am so tired of fighting teachers and doctors who's response is mostly "he'll be fine". You really cannot expect my child to wash his hands and get in a line without a reminder. He can't color or write his name. He doesn't even want to try because his little flexible hands can't maneuver pens and such. Then there is the whole can't smell issue...how do we cope with this? How do we teach him that other people can smell things and he never will? How do we teach other people that he has no idea what a flower smells like, or home made cookies? How did he bond to us as an infant without smelling? Did it happen later? Was he 1 or 2? Did he fall and hit his head to cause this? Was he born that way? It's really hard not to just cry for him. How can I fix this? I am trying so hard to be strong and fix everything that comes up to make life normal for him but how can I make this better? Could be worse, it can always be worse. What if there is a fire? He can't smell the smoke. Maybe we should avoid a home with gas in it, he could never spot a gas leak. How as a mom can I make this better?

He got sick over the weekend. Not sick sick just noticed he lost his appetite, well what he has of one. He went almost 24 hours without urinating. After a trip to urgent care and a rash and ER visit later we have nothing. I am hoping it was indeed nothing. Still can't get him to eat much. Do I sit on him just to shove a few bites of turkey in his mouth? I hate when people judge that you are a horrible parent based on what you feed your kid. I find it awesome you can get your kid to eat some tofu and organic juice. Mine won't even drink juice or eat vegetables. Of course now knowing he has anosmia and can't smell anything makes more sense as to why he won't eat things that are pretty normal for even a picky child. But again, how do I fix this? This could be another reason for FTT but why? Why? I just want some answers. I just want a reason. Something to point us in the right direction, a reason that will allow him some extra attention in school. I worry now even more. But I am just happy that he is such an awesome kid. Even when he should be feeling pain and discomfort he will smile and appreciate the music in his heart. I just want to make things easier for him. Just not sure how...

What percent am I?

If this is the 99% I wonder what percent I fall into? I am certain a lot of these global hipsters make more money than I do. Maybe it means 99% are laughing at them? I don't think I am by any means super smart. I don't think corporate American is evil. I am sure there are lots of companies out there, big and small, that are corrupt in some way. But things I heard today that really made me laugh and people, know what you're protesting if you expect the rest of us to take you seriously. I just see you now as jumping on the new trendy bandwagon trying to be accepted by your peers. I guess I have never been accepted so its not something I feel the need to do.

Couple humorous (to me) things heard from interviews of people at "Occupy Seattle". Pt. 1 Interviewer: why are you here today? Lady: to be heard as one of the 99% fighting against democracy and wanting to get changes made in our government. Interviewer: What do you do for a living? Lady: I am unemployed. Interviewer: who is your local congressman? Lady: Oh I have no idea.

Pt 2. Interviewer: So why are you here today? Guy: I am against the horrors of corporate America and what it stands for, something needs to be done about corporations. Interviewer: What is that you are holding. Guy: Starbucks. Oh but I didn't buy it.

It's great to want to fight for something you believe in, but maybe believe in what you're fighting for. Or at least have an idea what the words that are coming from your mouth mean. If you are against how horrible corporate America is then don't protest it while holding a Starbucks and iPhone. Or know your government representatives. Just a thought.

Medical Staff: please don't play telephone, it's a horrible game.

At my wits end with medical people. Please, please listen to the parents. At least acknowledge that we know our children. After all we do live with them. I am so frustrated with no explanations...just do this and call us later. Really? Yeah, ok and I should trust you why?

I don't know what to do but I regret this facility and the decision to come here.

They are so focused on the constipation and not WHAT is making him constipated. I feel like no matter what I say/explain or otherwise they think this is a new problem and ugh, whatever. I thought of writing a letter to them since the person in charge keeps sending messages through other nurses.

Dear ARNP,

We came to your facility looking for answers to a life long problem our child has. Since birth he has been constipated. After 2 years of making appointments, visiting various urgent care clinics multiple, more than 15 different times in less than 2 years asking what is wrong only to get blown off, they did an x-ray in the middle of the night at an ER. At all these doctor visits, pediatric specialists, urgent care doctors and nurses they all felt his stomach and told us there is no way he was constipated. We just worried too much, or thinking about it too much. Well finally we had an x-ray that said we were right ALL along and oh yeah we don't know what to do cause its so bad. So after an ambulance ride to Children's we were given instructions for oral clean out since an enema would rip his intestines apart. After a month or so of this to no avail and he was suffering stomach pain and vomiting we went to the ER again. This time I was blown off stating he is simply 2 and having tantrums. Tantrums from a dead sleep? He does not, or did not ever have tantrums. I know my child. After telling this doctor I don't accept her answer she conceded to do another x-ray to prove that he is all better from the oral clean out. She ate her words and was apologetic when she saw how impacted he was. Thankfully the wonderful Neurodevelopmental staff stepped in and rescued him by having him admitted for a clean-out through the stomach. 24 hours of intense clean out and the x-ray after showed he was finally cleaned. We were instructed to give him Mirilax every day and told from now on he will be fine.

That was 2 years ago. He still is not fine.

Our visit to you was because he isn't getting better and a teacher at his school spoke highly of the department. We were hoping for answers. We were shocked to find out he is still highly impacted. For a child that eats hardly anything, just enough to survive this cannot be good. We totally understand and complied with your instructions. After numourous back and forth calls with your people and a second xray 2 weeks later we are still almost where we were. If you have a plan it would be nice to know that. How long can he go with poop that runs like urine? When I brought up to your people that he is barely eating you say its because hes constipated...but when I say he ate more before we started this treatment I am treated like I don't know my own child. When I say he wont drink something, I am not saying that just to hear myself talk. When I say that its liquid and there is nothing solid left, please hear me. I know my child. And whey your people say that you will be able to "feel his abdomen" to see if he is still constipated I have 20 other people that said that too in his first 2 years of life. Good luck with that. I just want answers or at least someone to throw out some things, do some more tests. This has now gone on for 4 years, it is not a new issue. Please hear me when I tell you this. I haven't gone to medical school but one thing I do know, is that I KNOW MY CHILD.

Listen to parents.

Sincerely,
Me

Summing it up.

I stole this from a post on Facebook and modified it a little bit.

I am the child that looks healthy and fine,I was born with ten fingers and ten toes and a cute button nose! But something is different with me,and nobody really knows what this could be, and it isn't always easy for people to see. I am the child who struggles with words when I talk, who sometimes gets out of breath and in pain when I walk. (and then I begin to cough)

I'm not lazy, I'd do more if I could and I try with all my might to be like everyone else! I am the child who dreads sudden noise,it hurts my ears....making me cry and along come the tears.

I am not having tantrums but my stomach hurts really bad, that makes my family really really sad.

I am the child who tantrums and freaks,over things that seem petty and trite,lost in my own anger and fright. Perhaps there's a reason I'm made this way...some message I'm sent to share...For I am a child who needs to be loved and not misunderstood.I am different...but I just look like you.

+++++++++++++++++++++++++++++++++++++++++++++++++

All children have special needs, some are just different than others.

Labels are for underwear, not for children.

New Doctor, Same Issue

We found a new specialist and of course jumped through all the hoops to get the referral and make a new appointment. Of course weeks in advance we asked for records to be sent to the new facility so that the specialist can take a look and we won't have to repeat 4 years of medical history by memory in 10-20 minutes. Then ironically while we were speaking with the specialist the other hospital called to ask questions on where to send the referred information...really? Ugh! Thankfully they faxed a good portion, just as we were leaving. Not that it helped now but hopefully at his follow up appointment it will.

She took another x-ray of his abdomen to check to see if he had any constipation still. We figured maybe a little but since he takes medicine daily he should be fairly good. Well, I was wrong.



He has 5.5 cm of poo lodged in his rectum. It was all I could do not to cry. She decided that we needed to do an enema ASAP (at home) and gave us more instructions, and medicine lists to give him in the next few weeks so we can follow up with her in a month to see if hes any more "cleaned out".

The enema, milk and molasses. Not just for cookies. It scared me to do this but we did it. Thanks to wonderful daddy support. I could not have done that on my own. I swear this kid will need therapy one day. "When I was 4 I remember my parent's holding me down and shoving something warm and sticky up my bum that smelled like cookies." So wrong. Picking up more meds soon and hopefully he will not turn into a runny mess of poo in the next few weeks, but then again better than a stuffinyourrectum mess of poo that he has been suffering with for well, his whole life. No thanks to the many doctors at VMC that refused to listen to us, and finally one at the ER that did. Anyhow, he was rewarded with some KFC and a cheese stick. We promised to play rock band with him tonight as well. Poor kid, but it could be worse right?

Can't Smell

This week I realized that it is unlikely that my youngest can smell...anything. (Even though we can all certainly smell him!) It dawned on me when I was reading about someone else's child being sensitive to smell and I realized G has never told us anything stinks or smells good. His vision is super strong, he can see things very far away that no one else even notices. Exact opposite of myself and his older brother and sister who can't see far without glasses. His hearing is also super sensitive. He can't stand loud noises and will unplug the vacuum if you pause to move things out of the way. Thankfully he doesn't do this while the vacuum is running...but he will run into the other room. I remember earlier this year we were at the store and they had fresh flowers and I was trying to get him to smell them and when he did he seemed to blow air out not in. He now does that when I ask him to smell other things. I hadn't thought to ask him about smells again until recently.

The other night after I realized this I did various smells on napkins or right from the bottle since he cannot read. Garlic salt, onion powder, vinegar, vanilla, lemon, butternut, cinnamon, nail polish remover, rubbing alcohol. None of them had any impact. He smelled the vinegar twice until his older brother said ewe nasty so then he started saying this as well. He smelled nail polish remover right from the bottle, nose as close as he could get and no reaction. He tried 3 times. Is he just good at ignoring smells or does he just not smell anything? Hes still not great at communicating and as much as I have tried to describe smelling with his nose I don't think he understands. When I would ask him what things smelled like he would say basketball game, doctor appointment and once pop tart. Not cookie, pancake, or medicine like one would expect.

This really has me wondering about the connection to or through hypotonia and his failure to thrive (FTT) issue. If he really and truly has no sense of smell this could be part of the reason he avoids certain foods. I have been trying to search for what things taste like to a person without ability to smell but have only read a few things. One he won't drink anything but milk, or vanilla milk. Juice he has always refused. This could be because without smell the juice may just taste acidic and not sweet like everyone else tastes. This may be the same case for fruits and veggies. It may be the texture bothers him because the taste is off? Not sure but would make a lot of sense...pun intended.

I am going to be trying to get him to smell things for the next couple weeks, although he is already annoyed with me. If he cannot smell I must seem insane to him, always sticking something in his face. Hope I don't give him a complex. I have asked around and other moms have told me their kids don't seem to smell anything either. Then again they probably aren't crazy like me and shoving stuff in their kids faces saying whats this smell like?

I don't think there is anything to be done to fix it if he doesn't smell but it may be a clue to find out what he has or what is wrong with him. He has a few upcoming appointments, ENT (Which works out perfect for questions and testing), genetics (may help them find a diagnosis) and before those appointments we have an appointment with an encopresis clinic specialist. Not sure if that is their forte, wrong end of the body but won't hurt to mention it?

Like always onward and forward to find answers.

Hypotonia Survival Guide

"20 years from now no one will ask how old your kids were when they walked, talked or reached any other milestone"

Disclaimer: this may be helpful to many parents dealing with hypotonia. There is a lot of info out there but this sums it up very well. We have many of these tests/proceedure/seen the specialists. Please feel free to ask any questions.
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Hypotonia Survival Guide

What is Hypotonia?

Hypotonia, or reduced muscle tone (the amount of tension or resistance to movement in a muscle), can be picked up by pediatricians in infancy or early childhood. It is not the same as muscle weakness but it can co-exist with muscle weakness. Hypotonia may be caused by trauma, environmental factors, or by genetic, muscle, or central nervous system disorders. Sometimes it may not be possible to find the cause of the hypotonia. In babies, hypotonia may present with head lag after 6 months old. Also, the baby may feel like she will slip through your hands when holding her under her arms, rather than supporting her own weight with her shoulders. While most children tend to flex their elbows and knees when resting, hypotonic children tend to hang their arms and legs by their sides. They also may have substantial weakness and little or no head control as an infant, giving them a “floppy” appearance. Symptoms may include problems or delays with mobility and posture, breathing and speech difficulties, lethargy, ligament and joint laxity, and poor reflexes. Hypotonia itself does not affect intellect. However, depending on the underlying condition, some children may take longer to develop social, language, and reasoning skills. (http://www.ninds.nih.gov/health_and_medical/disorders/hypotonia.htm)

To explain the difference between muscle tone and muscle strength, please refer to the following article: http://pages.ivillage.com/msweiner/hypotonia/id9.html

Hypotonia is just a symptom and can be caused by many different conditions.

Therapy
Few underlying conditions that cause hypotonia can be medically treated. Regardless of why a child has hypotonia, the main treatment is symptomatic and supportive therapy. Physical therapy can improve gross motor control and overall body strength. Occupational therapy focuses on fine motor tasks and self help skills. Speech-language therapy can help breathing, speech, and swallowing difficulties. Therapy for infants and young children may also include sensory stimulation programs. (http://www.ninds.nih.gov/health_and_medical/disorders/hypotonia.htm)

In the US, Early Intervention (EI) or Early Childhood Intervention (ECI) is available to children from birth to age three who are delayed in one or more areas of development. For children three and older, services are available through your local school district.
Specialists

Pediatrician
Always start with your pediatrician if you have concerns that your child may have hypotonia. He or she will most likely refer you to one or more of the following specialists.

Developmental Pediatrician
A pediatrician with specialized training in children’s social, emotional, and intellectual development as well as health and physical growth. He or she may conduct a developmental assessment which will determine any delays your child has and to what extent the delay is present.

Neurologist
A neurologist is a board-certified medical doctor or osteopath who has trained in the diagnosis and treatment of nervous system disorders, including diseases of the brain, spinal cord, nerves, and muscles. Neurologists perform neurological examinations of the nerves of the head and neck; muscle strength and movement; balance, ambulation, and reflexes; and sensation, memory, speech, language, and other cognitive abilities. They also may suggest diagnostic tests such as the following: CAT (computed axial tomography) scan, MRI/MRA (magnetic resonance imaging/magnetic resonance angiography), lumbar puncture (spinal tap), EEG (electroencephalography), and EMG/NCV (electromyography/nerve conduction velocity). (http://www.neurologychannel.com/aneurologist.shtml) If you are concerned that your child’s hypotonia may be caused by a muscular disorder, find a neurologist who is a neuromuscular specialist.

Geneticist
A geneticist specializes in genetic disorders. They will get a detailed history of your family’s background and your spouse’s family background. They will look at your child’s features and order blood tests to look at the 46 chromosomes and possibly at specific genes on those chromosomes.

Occupational Therapist (OT)
A professional who has specialized training in helping an individual develop mental or physical skills that aid in daily living activities, with careful attention to enhancing fine motor skills (hand and finger skills, eye-hand coordination and sensory integration). In a developmental assessment, the occupational therapist would assess the child’s fine motor skills, coordination, and age-appropriate self-help skills (eating with utensils, dressing, etc.). She would also look at how the child responds to and uses what he sees, hears, feels, tastes and smells. (http://www.zerotothree.org/glossary.html)

Physical Therapist (PT)
A professional trained in assessing and providing therapy to treat developmental delays, disease and injury using methods such as exercise, heat, light and massage. In a developmental assessment, the physical therapist would assess the ability and quality of the child’s use of her legs, arms, and complete body by encouraging the display of specific gross motor tasks as well as observing the child in play. (http://www.zerotothree.org/glossary.html)

Speech/Language Pathologist (ST or SLP)
A professional who is trained in assessing and treating problems in communication including: articulation (pronunciation of sounds), receptive language (understanding and processing what is communicated by others), expressive language (the ability to communicate to others), fluency (including stuttering), and voice problems (including pitch and intonation.) Some speech and language pathologists are also trained to work with oral/motor problems, such as swallowing, and other feeding difficulties. (http://www.zerotothree.org/glossary.html)

Sensory Integration Therapist
The therapist’s general goals are: (1) to provide the child with sensory information which helps organize the central nervous system, (2) to assist the child in inhibiting and/or modulating sensory information, and (3) to assist the child in processing a more organized response to sensory stimuli. (http://www.autism.org/si.html)

Nutritionist
A nutritionist looks at your child’s diet for caloric content and overall balance of nutrition. If your child has been diagnosed as “failure to thrive”, a nutritionist can offer some tips on adding calories to your child’s diet.

ENT
The Ear, Nose, and Throat doctor will be recommended if your child is having hearing issues, chronic ear infections, or frequent tonsillitis.

Audiologist
A professional trained in assessing a child’s hearing. In a developmental assessment of an infant or young child, an audiologist would look for signs of whether or not there are any hearing impairments or loss, usually by placing earphones on a child through which sounds are transmitted at various frequencies. Audiologists often work closely with speech and language specialists to address problems in communication. (http://www.zerotothree.org/glossary.html)

Ophthalmologist
An ophthalmologist specializes in vision-related conditions. An eye exam may include dilation. Depending on the issue, glasses, patching, or surgery may be recommended.

Gastroenterologist
A gastroenterologist specializes in gastric disorders. Reflux is common in children with hypotonia and can be treated with medication. If the swallow reflex is absent or if a lack of weight gain is serious, a g-tube or ng-tube may be recommended.

Endocrinologist
An endocrinologist specializes in hormone-related conditions and diseases.

Orthopedist
An orthopedist is a doctor who treats diseases, malformations, and injuries of the bones. Many hypotonic children have flat, pronating feet and may require orthotics to help them walk or improve their gait. Some orthopedists do not “believe” in orthotics, making a trip to an orthotist necessary.

Orthotist
A professional who makes supportive braces and prosthetics. Many hypotonic children benefit from leg braces called AFOs (ankle-foot orthosis) or shoe inserts called SMOs (supra-malleor orthosis) and various braces in between. An orthotist can help assess the need for braces and will manufacture custom braces for your child.

Blood Tests
Information from MedTech1.com

CBC
The complete blood count determines the number of red blood cells, white blood cells, and platelets in the blood. In addition, it calculates the total amount of hemoglobin, which is a protein that helps the red blood cells distribute oxygen throughout the body; and hematocrit, which is the fraction of the blood that contains red blood cells (different from the red blood cell count). A CBC also contains information calculated from the blood measurements, including the average red blood cell size (MCV), the hemoglobin amount per red blood cell (MCH) and the hemoglobin concentration per red blood cell (MCHC). The CBC is a standard screening test doctors use to diagnose a variety of diseases and conditions. It provides doctors with a lot of information about the blood, the level of hydration in the body, and the production and life span of blood cells. In addition, it is a useful diagnostic for detecting infection, allergies, and blood disorders. (http://www.medtech1.com/research_center/diag20.cfm/53)

Metabolic panel
This test measures levels of: sodium, potassium, bicarbonate (CO2), chloride, creatnine, glucose, blood urea nitrogen (BUN). When only the first four of those nutrients are measured, the test is called an electrolyte panel. Creatnine, potassium and BUN levels are all indicators of kidney function. Glucose is measured to diagnose diabetes. Abnormal sodium levels can indicate dehydration, heart failure or kidney disease, among other disorders. (http://www.medtech1.com/research_center/diag20.cfm?diag_id=190)

CPK
This test looks at a product from the breakdown of muscle and can rule out muscular dystrophy (MD). With MD, the number would be in the thousands or tens of thousands, so anything that is normal or even under 1,000 rules out MD. Slightly elevated can be a testing error or increases the possibility of a neuromuscular problem. Normal is normal, but it does not rule anything out except MD. This test is also sometimes called CK.

TSH
Thyroid stimulating hormone (TSH) is made by the pituitary gland. It tells the thyroid gland to start producing the thyroid hormones T3 and T4, which regulate metabolism. If TSH levels are irregular, it could signify a problem in the pituitary gland that makes it, or in the thyroid that processes it. Usually the thyroid is the problematic gland. Decreased activity of the thyroid gland is called hypothyroidism. Symptoms include fatigue, weakness, weight gain and slow heart rate. Hyperthyroidism is an increase in activity of the thyroid gland. Symptoms include weight loss, rapid heartbeat, insomnia, shortness of breath and anxiety. A high TSH signifies hypothyroidism. This is because the thyroid gland does process the TSH, so the pituitary senses a need for it, and keeps sending more. If the thyroid gland is overactive (hyperthyroidism), then it will use too much TSH, and levels in the blood will be low. (http://www.medtech1.com/research_center/diag20.cfm/199) Thyroid problems are one of few medically treatable causes of hypotonia, so every child with hypotonia should have a thyroid test.

Lactate and pyruvate
The ratio of lactate and pyruvate can indicate a possible mitochondrial disorder and a normal ratio rules this out. This test is hard to do correctly and has a lot of false positives.

Blood sugar
This test looks for diabetes.

Chromosome analysis
Chromosome analysis can be performed on blood, solid tissue, bone marrow, amniotic fluid cells, and chorionic villi. The following sections describe the samples needed for specific types of chromosome studies.
Prenatal Chromosome Analysis (amniotic fluid, chorionic villus sampling)
Fluorescence In Situ Hybridization [FISH] (trisomy detection and sex determination, oncology, amniotic fluid, newborn screening, telomere alteration)
Cytogenetic Analysis of Leukemia (bone marrow, unstimulated leukemic blood)
Peripheral Blood Analysis (routine and high resolution)
Solid Tissue Analysis (skin biopsy, products of conception, abortus tissue)
Special Stains

The above links have very detailed information about each type of chromosome test. (http://ggc.org/Diagnostics/Cytogenetics/cytogenetics.htm)
Further Tests

MRI
Magnetic resonance imaging (MRI), a painless testing procedure, takes pictures of the body, much like regular X-ray, but using a strong magnetic field instead of radiation. MRI provides detailed pictures of brain, nerve tissues, cartilage and ligaments from multiple planes without obstruction by overlying bone. Nearly 90 percent of all MRI scans are for cranial or spine disorders. However, doctors also use MRI to determine injuries to complex joints like the shoulder and the knee. Most doctors prefer the MRI for detecting brain disorders. MRI is useful in brain and neurological disorders because it can clearly show types of nerve tissue. It provides clear pictures of the brainstem and posterior brain, which are difficult to view on CT scan. Doctors also use it to diagnose demyelinating disorders (disorders such as multiple sclerosis that cause destruction of the myelin sheath of the nerve). MRI is sometimes used to avoid the dangers of angiography or of repeated exposure to radiation. The MRI scanner sends the signals to a computer, which manages the information and creates a 3-D image of the scanned tissue. The image then prints on photographic film or videotape. MRI scans can penetrate bone and provide clear, detailed picture of tissues and muscles. In preparation for the MRI, the patient lies on a narrow table that slides inside a large tunnel-like tube. The scanner then surrounds the patient with a magnetic field. A radiologist, who specializes in MRIs, examines the film or computer for abnormalities. People who are claustrophobic, agitated, or disturbed by the loud noise may be given an antianxiety medication before the examination. Infants and young children are typically sedated for the test. Sometimes hospitals use open MRI machines that are less noisy and not as confining as the closed models but have other limitations and are typically not appropriate for a brain scan. The MRI technique operates on the principle that the most abundant atom in the body is hydrogen, which is present in every water molecule. When placed in a powerful magnetic field, such as that of an MRI machine, the nuclei of these hydrogen atoms line up in one direction, just as compass needles point to the poles of the earth's magnetic field. When energy from radio waves is directed into the field of the body part that is being examined, the nuclei are temporarily moved out of alignment. When the radio waves stop, the nuclei return to their alignment, giving off their own energy in the process. The machine's computers record the duration and intensity of these signal changes and convert the data into information that produces an image showing the internal structure of the examined part. An MRI costs about $1,000 or more per examination, and the machines themselves are prohibitively expensive for small hospitals or rural areas. (http://www.medtech1.com/research_center/diag20.cfm/49)

EEG
Electroencephalogram (EEG), or a brain wave test, is a measure of the brain's electrical activity. It is used to help diagnose seizure disorders, confusion, head injuries, tumors, degenerative diseases, and other conditions that affect the brain. In a comatose patient, An EEG technician performs an EEG test. Sixteen to 25 flat metal disks (electrodes) are placed on the scalp as the patient reclines. Wires connect the electrodes to an amplifier and a recording machine. During the test, the recording machine converts the electrical signals into a series of wavy lines, which are then drawn onto moving graph paper. A doctor then interprets the results of the test to find any medical abnormalities. (http://www.medtech1.com/research_center/diag20.cfm/62) Some hypotonic children also have seizures and an EEG would be performed to confirm or rule out seizure activity. While having electrodes placed on the scalp may annoy a baby or child, the test is otherwise painless.

EMG
An electromyogram (EMG) tests electrical responses of muscle at rest and during contraction and is used in the diagnosis of muscle and nerve disorders. (http://www.medtech1.com/research_center/diag20.cfm/55)

Muscle biopsy
A brief surgical procedure to remove a pencil eraser sized piece of muscle, usually from the thigh, to then examine under the microscope. They study the structure of the muscle and look for changes and abnormalities in the muscle tissue. A muscle biopsy is the only way to fully diagnose neuromuscular disorders.

Other tests may include hearing tests such as the ABR, tympanogram, and/or sound booth or vision exams.
Diagnoses (http://freespace.virgin.net/bch.hypotonia/)

Neuromuscular disorders

These are disorders which affect the muscle itself. Diagnosis is made through a muscle biopsy which shows abnormalities in the muscle fibre. A few neuromuscular disorders have a genetic test that can rule the disorder in or out, but the muscle biopsy is the route for diagnosis for most. Neuromuscular disorders vary in their pattern of inheritance and severity. The muscular dystrophy organization, http://mdausa.org covers a long list of neuromuscular disorders including congenital myopathies.

Chromosomal disorders
Some disorders involve the duplication or omission of one of the 46 chromosomes. However, there are many involving abnormalities in the chromosomes such as micro-deletions which are not usually detected in a routine chromosome test—a specific test is needed. Examples include:

· Prader-Willi Syndrome—(chromosome 15 involved) Under 6 months, hypotonia, sleepiness and feeding difficulties. Then, hypotonia becomes less, feeding difficulties stop and hyperphagia (over eating) begins, usually between the ages of 2 and 4. http://www.pwsa-uk.demon.co.uk (US: http://www.pwsausa.org)

· Williams Syndrome: a sporadic congenital syndrome due to a microdeletion of chromosome 7 (7q11, 23) at the elastin gene focus. There is a typical facies and global developmental delay. http://www.williams-syndrome.org.uk (US: http://www.williams-syndrome.org/)

Metabolic diseases
There are some 1,300 identified inheritable genetic disorders in which errors of metabolism occur involving a block where a catalyst or enzyme is absent or malfunctioning. This defect results in the build up of chemicals on one side of the metabolic blockage and a deficiency of vital chemicals on the other. This causes an overdosage of one or more, often toxic, chemicals and the shortage of others which are essential to normal body functioning. http://www.climb.org.uk

Mitochondrial cytopathies
Mitochondrial cytopathies are a group of disorders caused by abnormal function of the mitochondria. Mitochondria are the powerhouses of the cell and convert food into energy. Any failure of this process causes a lack of energy in the cells and this will severely impair the working of organs such as the brain, heart or muscle. http://www.climb.org.uk and http://www.umdf.org/

Connective tissue disorders
Connective tissue disorders, such as Ehlers-Danlos Syndrome, consist of several types of genetic connective tissue disorders. In general, these are due to a collagen (a naturally occurring protein) abnormality. Common characteristics include abnormalities of the skin, ligaments and in some instances internal organs. Problems include fragile and/or stretchy skin, bruising, scarring, poor wound healing and loose joints which are prone to dislocation and subluxation. http://www.ehlers-danlos.org http://www.ednf.org . Hypermobility syndrome involving loose joints is also a connective tissue disorder. http://www.hypermobility.org.

Cerebral hypotonia, brain-based hypotonia
Cerebral hypotonia, brain-based hypotonia—the hypotonia may be the result of damage to the brain (trauma, lack of oxygen, development in utero) which may or may not be visible on a brain scan. It is not clear how this is diagnosed when there is no visible damage on a scan. However, if the child is diagnosed hypotonic cerebral palsy, then see http://www.scope.org.uk.

Benign Congenital Hypotonia
It is not clear if this is a separate condition or whether it is simply a term used when a child has gone through all tests and all tests have proved negative. Generally, for true “BCH” diagnosis, the delays are mainly motor-based (this can include oral-motor muscles affecting speech). Certainly, there are children who appear to “grow out of” the hypotonia—although they may never become great athletes. But there are also children diagnosed initially with BCH who turn out to have more specific conditions—such as those listed above—diagnosed later on.

Related conditions:

Dyspraxia
Also known as clumsy child syndrome: perceptuo-motor dysfunction: minimal brain dysfunction: motor learning difficulty. Children with dyspraxia have problems with motor planning. Some children with dyspraxia have low tone, some children with low tone are dyspraxic. http://www.dyspraxiafoundation.org.uk

Sensory integration dysfunction
Many children with low tone have sensory issues. This means a problem with the body’s reactions to different sensory experiences. So a child with SID might over-react or under-react to stimulation—may crave swinging or going on roundabouts—or may avoid it. May freak at loud noises or may thrive on noisy places. May benefit from deep pressure such as being wrapped in a blanket. May react extremely to the same situation on different days, in different ways. Read The Out of Sync Child to learn more.

Developmental delays, learning difficulties
Developmental delays, learning difficulties can go hand in hand with the hypotonia (though remember that children can have delays and learning difficulties without having hypotonia). They may arise from a specific condition of which the hypotonia is one symptom. Or the hypotonia can lead to the difficulties—this is clearly the case with motor delays. Even with a diagnosis, the degree of difficulty can vary from person to person. It is hard to make a prognosis early on as to the kind of difficulties a child with hypotonia will face in the future, though predictions may become easier as the child matures and difficulties either resolve or become more obvious.

Prognosis
So your child has hypotonia. What you probably most want to know is “What does the future hold for my child? Will he or she ever catch up? What challenges will my child face?” Having a firm, medical diagnosis may help bring insight to many of these questions. Unfortunately, there are not a lot of answers out there for those children without a diagnosis, and even with a diagnosis, prognosis may vary greatly from child to child.

All parents of hypotonic children wish for a crystal ball into which they can look and see their child’s future. What the parents tend to learn is to take life one day at a time and to celebrate progress, no matter how big or how small. They also learn to look at their child’s development in relation to itself, rather than the norms. A hypotonic child who walks by age two may be doing fabulously based on his own timeline. Most hypotonic children will “get there” with therapy and time. By age five, they may not be the fastest child on the playground, but many will be there with their peers and will be holding their own. Some children are more severely affected, requiring walkers and wheelchairs and other adaptive and assistive equipment. The goal is to help your child to become as able and independent as he can possibly become.

Grieving and Other Feelings
A process that parents of a hypotonic child must go through is one of grieving. All parents who are expecting a child either from birth or adoption dream of the “perfect” baby and envision themselves as the “perfect” parents. When first told that their baby has problems, all parents experience a myriad of feelings. Many are shocked, although some feel validated if they have been noticing their child missing milestones. All are, to one degree or another, terrified. The parent’s expectations of what it would be like to have a baby are suddenly shattered. At some point, self blame enters the picture. Did I keep her in the stroller too much? Should I have nursed rather than bottle fed? Was is the half a glass of wine I had at my brother’s wedding? WHAT DID I DO WRONG??? The answer to this question is nothing. None of us did anything to cause our child’s hypotonia.

From there, a process of grieving begins. Feelings of sadness, anger, depression and anxiety often overwhelm parents for a time. During this time, parents often feel very upset to see their child next to typically developing babies of the same age. The grief is palpable and it is necessary in order to say goodbye to the “perfect” baby that every parent dreams of and to come to love and accept the beautiful and wonderful but hypotonic baby that the parent has. For some this process runs its course in a reasonable period of time. For some, the grief is overwhelming and can lead to depression and anxiety that can affect how the parent functions day to day. Any parent who feels that they are overwhelmed by depression or anxiety should seek medication and/or counseling. Your family doctor is a good place to start.

Another challenge that parents face is figuring out where they and their special needs child fit in. The world of typical children can be a difficult place for a hypotonic child and it is tempting to isolate one’s child. It’s hard going to a playgroup of toddlers when your child’s latest milestone is getting from the floor into a sitting position and the other children are running across the room. It is difficult to go to the mall and have a well meaning stranger ask how old your child is and react in shock when you say “eighteen months.” Friends and family, especially at first, may make unhelpful comments such as “all children develop at their own pace” and “well, maybe if you just played with him more, he’d start to sit up better!” The sad reality is that the world at large does not understand what it’s like to have a hypotonic child and the parent of a hypotonic child is usually too emotionally exhausted to teach everyone she meets how to respond appropriately.

However, it does neither you nor your child any good to hide from the world. It may be challenging, but it is important to find friends with whom you feel comfortable, even if their children are typical and developmentally leaving your child in the dust. Friends who can listen empathically and celebrate your child’s victories, no matter how small, should be cherished! Some EI programs offer playgroups where you may have a chance to meet parents of children similar to your own. And it’s important to get out and take your child to the mall and the zoo and anywhere else you would typically go. It takes time to develop a tough skin, but at some point parents of hypotonic children learn to turn a deaf ear to the well meaning but stupid comments of strangers.

Been-There/Done-That Advice From Parents

“The best thing I heard from Mattie’s PT was this (and I must force myself to repeat it to myself during those frustrating times)… He is on no-one’s schedule but his own. He will do things when he is ready and to put labels on him is unfair to him, it sets a different standard for him than he may need, it lowers the bar so to speak. Just one day at a time.” ~Jeanne Ambrose, mom to Mattie, 15 months, hypotonia in trunk muscles, dev delays

“It is possible to have a dx....we do only after 8 months after we first went to a neuro. But it is uncommon...and we are lucky to not have to search anymore.

I hope this is helpful and gives you hope.

When Georgia was first dx with hypotonia, before we had ANY tests done....her first neuro said that Georgia would grow out of her hypotonia eventually and long term would be ‘fine’. Although I do NOT have a crystal ball...everything is looking that way and we are OVERJOYED at that.

My husband and I made the decision that we wanted to explore all the possible reasons WHY Georgia has hypotonia. We wanted to believe that the neuro was right - she would be ‘fine’...but we wanted the assurance of all the tests to prove that.

For the past 8 months Georgia has had the tests that were relevant to her situation. Georgia’s main symptoms are that she has mild to moderate hypotonia and a delay in speech. She is 2 now. AT MY REQUEST, Georgia has had several bloodwork, urine analysis, and an MRI. We were told that we would find nothing..that all tests would come back normal. All the tests came back normal except the MRI.

So the MRI gave us a real diagnosis. The MRI showed that Georgia’s area in her brain, the cerebellum, (means: we move) controls movement, muscle tone, coordination, and some aspects of speech) has a small part on the left side that did not develop fully. Which explains EVERYTHING that Georgia has issues with.

Is this dx scarier or more serious than ‘hypotonia’ that we first received?? Initially...because it SOUNDS scarier...yes. But now, 2 months after we have received the dx?? NO, not anymore. We have talked with multiple specialists. And they all give the same prognosis as when we first had the hypotonia dx. ‘She will grow out of it eventually....she needs loads of therapy...she should be fine...never will be a star athlete’...although Georgia’s brain abnormalities won’t change..her therapy will help her permanently compensate for that.

Now we are at the same place we were when we first heard the hypotonia word. We are stronger with the information we have from the tests, BUT I am ragged and recouping from the stress and agony that the tests have put me through!!!

Our dx is broad....migrational abnormalities...but Georgia is still the same as she was before all this. We are still giving her physical therapy and speech therapy etc...BUT we have peace of mind that she does not have anything progressive. I am the one who needs to find peace and acceptance in that..and STOP comparing her to other 2 year olds.” ~Alexis & Georgia 2 (migrational abnormalities & speech delay)

“I’ll share the best advice given to me by our PT, Kathleen Tyson at All Children’s Specialty Care Center in Tampa. She gave me this advice during our very first session, when Ellie was only 6 months old and I was full of questions and desperately wanting those ‘crystal ball’ answers. This is what Miss Kathleen told me, ‘Does ANYBODY ask us as adults when we walked and talked?’

And no, no one has ever asked me or my brother that. For the record I talked abnormally early (11 months for words; 12 months for sentences), and my brother didn’t walk until almost 18 months. Now, he's the big high muckety-muckety computer guru and I am the broke a** jobless one!

So, that is the advice I’d give all newbies — sit back, relax and enjoy this ride as much as possible, because 20 years from now no one will ask how old your kids were when they walked, talked or reached any other milestone we see as life altering and earth shattering right now. I just try to think of it as Ellie being a baby longer.” ~Amy and Ellie — 8 months old in a 14 month old body
Resources

Medical links: http://pages.ivillage.com/msweiner/hypotonia/id3.html

Love this! but a thought...

I read this article by Stefanie Wilder Taylor regarding her daughter. Its a great article, but my thoughts are what if this was a boy instead of a girl? I don't think parents would be as apt to let their young 3 year old wear a tutu or some sparkly Sketchers. Not saying this is right or wrong but it is something to think about.

http://blogs.babble.com/babble-voices/stefanie-wilder-tayler-baby-on-bored-electric-boogaloo/2011/09/19/my-shopping-spree-with-chaz-bono/

Research Study

When we discovered Graydon had a flat head, misshaped in a big way we started seeing specialists. I know I have mentioned it before but he was fitted for a helmet when he was 6 months old. He was to wear it for 4-6 months 23 hours a day. At our initial visit at Seattle Children's Hospital when our baby was just 3 months old the ARNP we saw said he had plagiocephaly and brachiocephaly. She initially thought he had torticollis and referred us to physical therapy for him immediately. It turns out that he did not have tort but had overall hypotonia. After the ARNP wrote the referral she asked if we would like to be part of a research study for children and infants with plagio and brachio. We agreed and signed up. We figured if nothing else they may figure out what is wrong with him and possibly give us more resources. He went to several visits over 3 years and had one MRI relating to the study. (He had another MRI later for medical reasons.) They would send us updates and so on but never really heard the results. I belong to a group on Facebook that is for people with hypotonia. It is a great support group. Many people from all over the globe sharing stories and advice. I wish I knew about this years ago instead of just a couple months. There is a mother there that was denied helmet therapy for her child and while I was looking for links for her to campaign to her insurance company to show its medically needed and not cosmetic I found a link from an article detailing the research study Graydon was in. He was one of the 472 babies in the study, obviously not part of the control group. I know initially we were told he was the first child with plagio that had a successful non sedated MRI. Thankfully it was clear and showed nothing wrong. All of his Bayley tests showed significant global delays. 6-12 months behind "normal" children. It was the urging of Dr. Brent Collett that made me push to have Graydon retested for speech delays, after the initial one showed he didn't need speech therapy. A copy of that Bayley test from a high ranking professional at an acclaimed children's hospital held merit when I waved it in front of the people who said my child didn't NEED speech therapy. They suddenly agreed he did. Anyhow...this is the link.

I am so glad to share and hopefully some good came from the study and it gives other parents more of an edge to fight for their children when professionals refuse to listen.

Another link to a similar story.

hostgator

I R Suck. Update and Update.

Seriously the blog thing has not been happening like I would like. I have lots to say but really not sat down to write it out. Here is the mini update for the year.
Finished college in June just 2 days before my youngest turned 4. (Where did that time go?) I got a degree and 2 certificates. Of course I didn't have to worry about finding a job, because I always had one. One I might add that I am very grateful for. Everyone gets along, usually. They understand needs to leave for medical appointments for my child with hypotonia and other medical issues, specialists and ongoing speech therapy. But it is good to be done. I *thought* I would have a ton more time for stuff like blogging, and ebay...HAH! Yeah no...not sure how I coped before with homework and everything school, work and family.

Moving on...G turned 4. He is doing pretty well progressing with his delays. Still not on the level of other kids his age but not too noticeable to others that meet him. Potty training is the big frustration now. He can pee every time, usually. But pooh is another story. He freaks out, tells me he doesn't know how, runs, hides...UGH! It is hard to tell whether he is internally damaged (Thanks to the wonderful doctors that wouldn't listen) or just fearful, or maybe a little of both. We hope that he makes progress before next fall when he is supposed to start kindergarten.

KC did another summer at theater camp (maybe that is where my time went?). She LOVED it. She even had a lead role with a singing solo. I certainly would love to get her some lessons and maybe get her involved in more theater stuff. It costs money which is scarce these days thank to a certain person that refuses to help with things that...well never mind. Tay spent the summer at my parents working as a laborer. He also helped other family members out and earned some cash. It was good for him. He turns 18 in a few weeks. CRAZY. I am so not old enough for him to be my kid. He has a lot to do this year. He needs to pick a college, we need to do some senior pictures. He has some super hard classes, calculus...physics. ACK! KC is taking algebra in 6th grade...I am not smart enough to help with homework anymore.

I also came to a realization that maybe I knew but never really sat down to ponder. My oldest will be graduating from high school on June 13. The day before his baby brother turns 5, yes FIVE! This means one graduates and another begins. HOLY F()
Speaking of the above mentioned grandmother, we also lost her this year as she left to join my grandfather. She had a broken heard for the last 4-5 yrs. My mother, bless her heart, took care of her until the day she died. Spending nights with her at home and even in the hospital till she took her final breath. There is another story to this I will tell later.

The rest of the year will be busy too. My son turns 18, my daughter will be 12 in a couple months, then Christmas....oh my.

But for now I am going to sign off. More to come!

Wordpress: Fail

I attempted to make the switch to Wordpress and I just can't figure it out, or really have the time too. The box to type the blog in doesn't look right. So here I am, back to my good old reliable blog that I neglect far too often. If its not broke, don't fix it.

My Personal Magic Kingdom

I have been busy. But I am almost done and will be moving on to other projects long forgotten about. But for now I am posting an essay I wrote for a class I am taking. Let me know your thoughts. I am sure what I wrote is not at all what my teacher expects.

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Q: I would like you to write a 1-3 page double spaced reflection paper on your future career or job. In this paper you should discuss your dream job and how you are going to make that happen. Also integrate the other areas of your life and talk about the ideal of what the next 5, 10, 15, 20 years can look like.

Walt Disney looked at an everglade in Florida and saw a magic kingdom, by following these simple principles: Dream, Dare, Believe, Do.

I want you to create your personal magic kingdom.
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Self Assessment 9

I have been thinking of what I should write for this. Of course there are dream jobs but I am a bit more realistic. I also don’t have regrets. When I first came to GRCC I was on the edge of losing my job with a company I had been at for nearly 7 years. I had learned with the company, grown and possibly even became a little outdated. My field is marketing and design but as the economy tanked, so did the company. The owner put me in the bookkeeping/accounting position as well as my regular duties that were dwindling because of our budget cuts and no money for advertising. He had a hard time finding someone he trusted so he put me there and trained me as I had no real experience in accounting other than working as a teller years before and the ability to balance my checking accounts to the penny.

A year after mostly self learning, and having the mindset of saving the company money anywhere I could, which is much different than the advertising mindset, I was doing very well. Then the owner died suddenly. I was faced with this uncertainty of the company, even more than just the bad economy. I thought about my options, I am not one to dwell on the bad. I am more of the take action and make things work mindset. So with the company slowly going under because of the death and family squabbles because these people had no clue about the company business, I decided to check into making my accounting skills more official. Only a few months after starting school the company closed, but I was fortunate enough because of my connections to find another part time job in the industry I was coming from. The company knew me and my capabilities already and being versatile helps. I have been there almost 2 years now and love it. I really don’t think much about a dream job. The economy still scares me and you just never know.

I could write a paper about how my dream job was to be a great photojournalist or a personal assistant to someone high up. Both of which I feel I would be good doing. But I really don’t know for sure if that would be my dream job. I guess what I am trying to get to is I am already doing what I like and at the same time on a path where I am continuing to grow and learn. I know eventually I will move on to another company for some reason or another because nothing is permanent. To say where I think I might be in 5, 10, or even 20 years is not something I can honestly predict with any accuracy. Looking back I am not where I would have at all guessed I would be even 10 years ago. Especially 20 years ago.

Right now my focus is on doing well and taking care of my family. I don’t think I could write about my dream job because I already have it within my current life and family. Maybe if I were asked this question 20 years ago, I would have a whole different answer for you, but I am being realistic and the dream job I may have had then, is not something I would be happy with now. So I am happy to say I am living my dream and I have no regrets. I believe if I at least continue to appreciate life and take things as they come whether they are planned ahead or come up by surprise, no matter where I end up I will be happy. That to me is the only point to life. That is my magic kingdom.

New year?

So far it blows. Big ass chunks. I am about to fail Excel. Seriously excel. I did awesome in all my other classes but excel will be my Achilles heal. I think everything is falling apart. My child has been getting hives, was diagnosed with asthma, my grandmother died, my best friends nephew passe away. I am planning a seminar for work, have tons to do, Have doctor appointments, choir concerts, I don't know what to do. I can't keep my house clean, dishes done. Laundry washed and folded. I know these things are trivial but when my house is messy I just feel more chaotic and in turmoil. I just had a panic attack because there is no way I am going to finish these 4 more assignments by noon. Its almost midnight. I have to be up at 6 to get the kids ready for school, take my daughter to choir in the morning then get to work. I am beginning to not care if I finish school but that will mean it will hurt me later, like if I need a new job. I have to finish these 2 classes. Take a typing test, and do 2 more non accounting classes. So sad that if I don't finish it won't be because I can't handle accounting, it will be because I can't perform detailed whatif functions and scenarios. It will be because I cannot correctly make tables in HTML. Or pass a typing test because of chronic tendinitis. I know there are worse things to be worrying about. I am just so unbelievably stressed and sad that I don't know what to do. I really just want to go to sleep. Oh sleep I miss you. I don't ever get to sleep in. I never really have a day off. I felt guilty for going shopping this weekend. I should have stayed home and cleaned.

I miss fun. I miss hanging with my family. I miss friends that I probably don't have anymore. I just suck at life.

Sorry I am always venting to you.