Wednesday, November 20, 2013

So you think your child may have Dysautonomia?

Though I am not promoting self diagnosis of your child, I do support empowering parents with knowledge and knowing how to move forward when wondering if their child may have Dysautonomia.

Dysautonomia affects the autonomic nervous system (ans).  Dysautonomia can be presented differently in each person that has it, even for identical twins and between parent and child.  The information I present will be based on my daughter's reactions and some of the most common reactions that can occur.  Dysautonomia is not a diagnosis on its own, but a consortium of diagnoses for conditions related directly to the ANS.  Having one or two of these issues does not point toward having Dysautonomia, but having several can lead you in the right direction to a specific diagnosis.

It is very rare for children to have Dysautonomia and never diagnosed prior to the teen years.  Only recently has my daughter's doctor started diagnosing children as young as nine years old.

We knew that our daughter was different as a new born, but could not connect these differences to anything in particular.  As far as we knew, she was perfectly healthy and had symptoms that other babies could have.

Sleeping Through the Night
Our first clue that something was different was that she was sleeping for four to six hours as a newborn. The doctor complained about her sleeping more than a couple of hours at a time and the need to wake her up and feed her.  It was difficult to wake her up and when she did wake up, she would eat very little or not want to eat.  I knew that this was not right, but she was hitting all of her growth and weight milestones.  Well, weight was an issue as she was in the 10 percentile, but the doctor said not to worry as she was gaining weight.  As she got older, she began sleeping up to 15 hours a day.  This was not the normal pre-teen/teenager stay up late and sleep all day.  She would sleep all night and all day.  This was diagnosed as Hypersomnia.

Blue Legs When Held Up Right
Our second clue was that she had blue legs when held upright.  As soon as she was returned to a non-restrictive recumbent position, the blueness went away. At first I thought that people were holding her too tightly and cutting off her circulation.  However, it happened even when I held her.  I quickly learned to always hold her (as a baby) in the recumbent position.  As she got older, we lost track of her legs being blue, but about the age of 10 we started noticing it again and realized that it was the same issue as when she was a baby.  We have come to know this condition as Acrocyanosis.

Projectile Vomiting
Another prominent problem was projectile vomiting. No matter how she was fed or what she was fed, she always vomited her food clear across the room. Even as she grew older she continued to have vomiting after she ate. By the time she was three, it was in better control, it did not happen with every meal; however, we never knew when it would happen.  As a baby, she was test and diagnosed and treated for Pyloric Stenosis.  When she was older, she was diagnosed with Gastroparesis.
Early Satiety
In conjunction with the vomiting, our daughter had an inability to eat a normal amount of food, this is called early satiety. She could eat a very small amount and would stop. If she ate too much, she would have stomach cramps and begin vomiting.  We were turned into DHR when she was a year old for child abuse because she ate so little. This was one time that DHR did an investigation and found no signs of abuse because she was on the plump side and well cared for.  This was related to the Gastroparesis mentioned in the previous paragraph.

Frequent Infections
Our daughter had frequent bacterial and fungal infections that affected her ears, her urinary tract, her digestive tract and her skin. She frequently had mouth ulcers, ringworm, and upper respiratory infections.  She has had the flu twice, once when she was three weeks old and the second time when she was seven years old. However, though being heavily exposed to the flu on several occasions she has not had it in the last eight years and she has not acquired the chicken pox.

High Heart Rate
A child's heart rate is much higher than that of an adults.  For a girl, it is typically around 140 when born and for a boy slightly less.  I did not notice any issues in her heart rate as a baby; however, when she was seven or eight, I started taking notice that her heart rate was not coming down.  It was a couple years later before I started asking the doctor about her heart rate.  At the time, they would tell me that it was at the high end of normal, but still normal.  Each time they took her pulse she was sitting down.  About a year later, I found out about POTS and asked the doctor to take her heart rate both sitting and standing.  The nurse that took her pulse could not get it while my daughter stood up because her blood pressure dropped.  Once she found the heart beat could not believe that it was so high and declared that the equipment was broke.  I reminded her that she could take a pulse manually.  She did, again and declared that nothing was wrong.

Low Body Temperature and Low Blood Pressure
Our daughter maintained a low body temperature around 96 degrees.  She also maintained a low blood pressure (90/50 average).  We really did not know about this until she was in her preteens when the doctors we visited started recording them by our request.

Leg Pains (Not Growing Pains)
From the time that she could stand and walk, she always wanted to be carried. She complained of her legs hurting.  She never wanted to go anywhere for fear of being there a long time--standing. Everywhere she went, she was slow, always last and took forever. We thought she was being social or too chatty. It turns out it was always a delay tactic. Delaying the inevitable, standing and walking.

We were somewhat oblivious to there being a problem as she began dancing at two years old and continued for years. She was always active. One day when going through pictures from our church's VBS program, I noticed one picture in particular where she was outside at a table with one of the leaders working on a project while the rest of the group was playing competitively in the adjoining field. I asked her about it and she could not explain why. That is when I started worrying what was wrong.

At this time I started noticing more of her complaints regarding her legs, her sitting down more often, avoiding trips to the store, and taking breaks at dance.  By the time she was eleven, she struggled in dance and began spraining joints regularly. This is when we started taking her to the doctor to figure out what was wrong. By the time she was twelve, she was in a wheelchair. Her dreams for dancing were dashed.  When she was in her teens, she received a diagnosis of Orthostatic Intolerance.

She was early for all her milestones except walking. Though she was not terribly late walking, it was the last one attained and late compared to all the others.

No sweating
Most babies don't sweat and usually don't start until around puberty.  Our daughter never did sweat, even as a competitive dancer who practiced for six hours a week.  We later found that she had Hypohydrosis.  It was specifically because of this condition that we eventually found out by our daughter having Dysautonomia.  For others, there can be an issue with excessive sweating, in our case, it was the opposite.

Other Possible Clues
I don't know if these are clues of her condition; however, they were very unusual. She was very alert as a baby, even in the first few weeks, it was like she was studying everyone and everything.  She did not cry very often and was very easy going.

Just and FYI -
There are many more conditions and symptoms related to Dysautonomia including migraines, passing out, sensitivity to sound and light, muscle weakness (floppy baby syndrome), etc.  Research everything you can and if you believe that your child has Dysautonomia don't stop going to the doctor and getting the right answers.  We only found out when realizing that my daughter's diagnosis for Cholinergic and Cold Urticaria did not address all of her problems and kept telling the doctors that she did not sweat.  It took 12 years to get their attention and a confirmed diagnosis and an additional three years to get a successful treatment for many of her issues.

My daughter not only has Dysautonomia (Orthostatic Intolerance and POTS), but also has Cholinergic Urticaria (Exercise and Heat Induced), Cold Induced Urticaria and Ehlers Danlos Syndrome III.

No comments:

Post a Comment