Infant In Icu With Dysautonomia - Where To Turn?

[sadiebean]

Hi all,

The short version of our story is that our 6 month old baby has significant autonomic dysregulation, secondary to a severe Arnold Chiari II defect of the hind brain. He's been on labetalol for a month or so now, and it's helped a bunch.

He's been in intensive care since he was born, as he has central apnea and is on a vent. (We are waiting for him to be big enough to come home on the at-home vent.)

We have not been able to rely on the team of doctors at the hospital we're at for much of anything; the labetalol came after many many questions and much prodding on our part. So we're pretty much on our own. His symptoms have improved, but he still storms. And we really just want to know the right thing to do next.

I've emailed Dr. Blair Grubb but haven't heard back.

Any suggestions?

Btw - the baby's symptoms while storming are: tachycardia, bronchospasms, fevers, tremors, inability to track, listlessness, hypertension. He seems to be triggered by a full bladder, constipation, overheating (his room is often freezing cold, never above 68 degrees, and he's usually naked but for his diaper).

But this has been all our own legwork - surely we could be missing something?

Thank you for any input!!

Ann

[dsdmom]

Oh Ann,

My heart breaks for you and your family. I am sorry you are going through this.

I don't know where you are located, but it sounds like you need to find a center that will be able to help you. Have you thought about Mayo or the Cleveland Clinic? I am not sure how these places are with pediatric dysautonomia but maybe someone else can make a suggestion.

My thoughts and prayers are with your family.

[spaceorca]

I also am so sad to hear about this--it must be so hard for you and your family to bear. In addition to Mayo and the Cleveland Clinic, which dsdmom mentioned, I think that Johns Hopkins and the U of Pennsylvania both have helped some children with severe dysautonomia. But I don't have firsthand experience because my son was in his teens when he first became ill. I think that almost any major children's hospital would give you better support than it sounds like you have currently. Are you near a metro area with a major children's hospital? We'll be thinking of you, Debby

[dakota]

I am so sorry to hear what you and your son are going through, and he at such a young age. I just wanted to say what lucky parents he has, to have parents who are so observant and attentive to be able to figure out some of his problems without him being able to speak about them. I'm sure you have helped the doctors immensely in all of this. Your son is very lucky to have you and I wish you and your family all the luck in the world in finding good doctors and getting through this.

[KristinL]

Ann I can't not imagine the flood of emotions you and your family are feeling as you take care of your little one. I have no productive answers to give but to say you and your family are in my prayers!

[juliegee]

Hi Ann-

My son also suffers with dysautonomia, but his onset was at age 12. I can't imagine a baby dealing with so much. I KNOW this is an incredibly difficult time for you.

I'm not sure how involved your son's Chiari Malformation is, but I understand the spinal cord can be significantly affected. Because of this, I STRONGLY suspect that your son is dealing with AUTONOMIC DYSREFLEXIA. The fact that a full bladder & bowel set off symptoms is very telling. Below is a fact sheet from the National Spinal Cord Injury Association. There are specific steps that can be taken to prevent attacks.

My love and prayers to you, your family and your precious son.

Julie

Autonomic Dysreflexia

Autonomic Dysreflexia (AD), also known as Hyperreflexia, is a potentially dangerous complication of spinal cord injury (SCI). In AD, an individual's blood pressure may rise to dangerous levels and if not treated can lead to stroke and possibly death. Individuals with SCI at the T-6 level or above are at greater risk. AD usually occurs because of a noxious (irritating) stimulus below the level of the injury. Symptoms include headache, facial flush, perspiration, and a stuffy nose.

AD occurs primarily because of an imbalance in the body systems which control the blood pressure. The human body is an incredibly complicated and beautifully balanced machine. There are balances to each system of the body, including the blood pressure. One of the major ways the body controls blood pressure is by tightening or relaxing little muscles around the blood vessels.

When the muscles contract, the blood vessels get smaller and blood pressure increases. Imagine a garden hose with water streaming through it; when you put your thumb over the opening of the hose, reducing the opening for the water to flow through, the water shoots out at a higher pressure. Similarly, when the blood vessels are smaller, the blood rushes around your body at higher pressure.

When a noxious stimulus occurs, a reflex is initiated that causes the blood vessels to constrict and raises the blood pressure. In an intact spinal cord, this same stimulus also sets in motion another set of reflexes that moderates the constriction of blood vessels. However, in someone who has SCI at the T-6 level or above, the signal which tells the blood vessels to relax cannot get through the spinal cord because of the injury.

Some of the nerves at the T-6 level also control the blood flow to and from the gut, which is a large reservoir of blood. Uncontrolled activity of these nerves may cause the blood from the gut to flow into the rest of the blood system. The result is that blood pressure can increase to dangerous levels and the increase in blood pressure must be controlled by outside means.

What is "Autonomic Dysreflexia"?

Autonomic dysreflexia (AD), in the simplist terms, is the nervous system going crazy. Individuals that have a T-5, or higher, injury are the ones generally subject to suffering from AD. This is a condition that can be life-threatening and can be considered a medical emergency .

What are the indicators for the onset of AD?

Hypertension (blood pressure greater than 200/100)

Pounding headache

Flushed (reddened) face

Red blotches on the skin above level of spinal injury

Sweating above level of spinal injury

Nasal stuffiness

Nausea (secondary to vagal parasympathetic stimulation)

Bradycardia - slow pulse <60 beats per minute

Piloerection ("goose bumps") below level of spinal injury

Cold, clammy skin below level of spinal injury

What sort of things can precipitate this syndrome?

Irritants, things which would ordinarily cause pain, to areas of body below the level of spinal injury.

Things to consider include:

Bladder (most common) - from overstretch or irritation of bladder wall

Urinary tract infection (UTI)

Urinary retention

Blocked catheter

Overfilled collection bag

Non-compliance with intermittent catheterization program

Bowel

overdistention or irritation

Constipation / impaction

Distention during bowel program (digital stimulation)

Hemorrhoids or anal infections

Infection or irritation

Skin-related Disorders

Any direct irritant below the level of injury

Pressure by object in shoe or chair, cut, bruise, abrasion

Pressure sores (decubitus ulcer)

Ingrown toenails

Burns (eg. - sunburn, burns from using hot water)

Tight or restrictive clothing or pressure to skin from sitting

Sexual Activity

Overstimulation during sexual activity

[stimuli to the pelvic region which would ordinarily be painful if sensation were present]

Menstrual cramps

Labor and delivery

Other Causes

Heterotopic ossification ("Myositis ossificans", "Heterotopic bone")

Acute abdominal conditions (gastric ulcer, colitis, peritonitis)

Skeletal fractures

What can be done to manage an episode of autonomic dysreflexia?

The first thing to do is locate and remove the offending stimulus whenever possible. This will often prove successful enough to avoid pharmacological intervention. Once the source of irritation has been removed it will be a good idea to have the individual remain in a sitting up position and take frequent blood pressure checks until the episode has ended.

Typical Causes

Blocked Catheter

The most common cause of AD is a catheter that has become blocked. You will want to check the collection bag, irrigate the catheter and remove any kinks.

Bowel

If symptoms begin while digital stimulation is being performed, stop until symptoms quit. If the individual has impacted stool - begin disimpaction immediately. If digital stimulation continues to bring on the symptoms you may want to consider abdominal massage or commode-based bowel evacuation methods

Skin

Skin irritation, also a common cause of AD, is most often stopped by loosening the clothing. You will was to check for pressure sores and toenail problems.

How can autonomic dysreflexia be prevented?

Frequent pressure relief in bed/chair

Avoidance of sun burn/scalds (avoid overexposure, use of #15 sunscreen, watch water temperatures)

Faithful adherence to bowel program

Keep catheters clean and remain faithful to catheterization schedule

Well balanced diet and adequate fluid intake Compliance with medications

PUBLISHED: 2007-07-29

[firewatcher]

My prayers also go out to you and your family!

I know that your little one's cause is Chiari, but Riley-Day (Familial Dysautonomia) also strikes infants, so the treatment center at New York Hospital might give better insight:

Riley-Day Familial dysautonomia

They may be able to guide the doctors in treatments and dosages.

Keep us all posted, you are in my thoughts and prayers!

Jennifer

[potsgirl]

I really can't add much to what's already been said, except that going to a specialist would probably be for the best (they've been mentioned previously), and that my heart goes out to you and your family. I will be keeping you all in my prayers.

God bless~

Jana

[tinkerbella]

Nothing pulls at my heartstrings more than a child being sick. My thoughts and prayers are with you. I've just requested the Heavens above for a healing for your little one, as I believe in miracles.

blessings and love,

bellamia

[Maxine]

So sorry to hear about your little boy's health problems. My heart goes out to you, and my prayers will be with you and your family----especially your son.

I do know hind brain stem compression can cause his symptoms, especially the central slepp apnea.

This is something that I deal with as an adult, and I can't imagine it with a child this young, as the symptoms are very serious.

Hopefully, you can find a physicain who is familiar with chiari II, and dysautonomia.

Here's a couple of websites that have listings of physicians who may be able to help.

http://www.asap.org/

http://www.pressenter.com/~wacma/

BIG HUG

Maxine :0)

[yogini]

That is heartbreaking. I applaud you for being so proactive in your son's care. I know nothing about hte particular issues, but maybe you can try contacting Mayo Clinic or Chiari Institute. Also, you may want to try Dynakids which is a support group for kids with dysautonomia. I hope your precious son gets the care he needs!!

[MightyMouse]

If you would like, I can put you in contact with a mom of 3 kids with familial dysautonomia. They currently live in FL, but used to live in NY. They are very much in the know with regard to which doctors know what info. I think they use Dr. Axelrod in NYC.

[sadiebean]

Wow, thank you all for your support and information.

@Mack's Mom - Thank you for this fact sheet! I've printed it from the Nat'l Assoc site and it's now in Paul's bedside chart. In fact, Paul was storming yesterday and I just had a hunch it was somehow related to diaper rash (concurrent w/onset of symptoms) and lo and behold, skin irritation ranks w/constipation and bladder issues!

Paul has spina bifida so he DOES have a spinal injury, it just seems to relatively mild (he moves his toes and feet) but with everything else, now I'm sure it's involved. Also, he has a large syrinx. I'm wondering if we need to treat that aggressively. His chiari was decompressed in January, a risky surgery in hopes of relieving the apnea. It helped, but not completely.

(my computer's battery will run out soon, may not be able to respond to all posts before then...)

@firewatcher - the Familial Ctr at NYU flat out said no, because Paul doesn't have familial dysauto. I'll go knocking thre again if I need to though.

@mighty mouse - yes yes please I would love to finally be in touch wiht another parent going through this. Thank you!

@dsdmom and others - will check out Mayo, Cleveland, JHopkins & UPenn - thank you!!

@spaceorca- Paul was at Boston Childrens from birth till 2.5 months before coming to Hartford. They were preoccupied with 7 surgeries, prematurity and major apnea, so I hope that if we turn to them they'll delve further into the dysauto/dysreflexia than they did. We may well transfer Paul back there, but it's 1.5 hrs from home and we have 2 and 5 year old boys.

must go before comp crashes. THANK YOU!!!!!!!!!!! Ann

[Guest humanb4monitor]

I am so so sorry for your fear and pain. With all my real love and the universe and god and all divinities watching you....that your son will grow to be a wise and wonderful soul who may change the word.

[Guest humanb4monitor]

How are things? How is baby and everyone?

BIG HUGS coming from here.

[sadiebean]

Paul is doing well, thanks!

He gets overheated on pretty much a daily basis, but it and the other associated symptoms are more manageable since labetalol.

He's medically complex, trached and on the vent due to central apnea and lung disease of prematurity, and he has a g-tube. He was intubated at birth, and tho his breathing has improved he still desats off the vent. All related to his severe Chiari. It's been so, so scary, to the point of despair before the labetalol. His HR has gone as high as 245bpm, etc etc.

Somehow I have much more faith that we'll be able to manage at home, though I don't think too much on the details. We'll save a lot in heat I guess!

We also have a 5 year old with spina bifida, though with none of these lifethreatening and rare complications. Paul is very, very rare. We've never heard of another baby with these symptoms, have yet to find another family dealing with this. Even his neurosurgeon in Boston, which is ranked #1 in both pedi neurosurgery and pedi neurology, had never before treated a child who was born not breathing and who experienced these symptoms. Truthfully, I don't know who will follow Paul once we're discharged, since no one now is even officially treating this.

I've followed up with Dr. Blair's office again, and will be getting back in touch with Boston (again, we transfered to CT to be closer to home when Paul was 2.5 months old) to see what they recommend.

As for coming home, Paul needs to be 8kilos to try the at-home vent, and is 6.6 kilos and gaining very steadily (as in, 1/2 kilo a week these days!) so hopefully sooner than later. But it's been a long haul.

I'm so glad I found this message board though. It's been our first lifeline on this subject after much searching.

Ann

[sadiebean]

Oh, one more thought I had re: auto dysreflexia - Paul has an extensive spinal syrinx, and I wonder if this is coming into play, since dysreflexia is really mostly seen with trauma to the upper vertebrae. So this is one lead we will be following up in with Boston.

[juliegee]

Oh, one more thought I had re: auto dysreflexia - Paul has an extensive spinal syrinx, and I wonder if this is coming into play, since dysreflexia is really mostly seen with trauma to the upper vertebrae. So this is one lead we will be following up in with Boston.

Hi Ann-

So happy Paul is doing as well as he is. I pray he'll be able to come home soon to be with his loving family!

I'm certainly no expert on autonomic dysreflexia, but God works in mysterious ways. One member had recently posted a thread where we were asked to list incorrect DXes that doctors had come up with in an attempt to figure us out. AUTONOMIC DYSREFLEXIA was one of mine. The night before your post, I just happened to look over a blurb about it prior to writing my reply. When I later read your post & all that your boy was dealing with, I easily recognized the symptoms....but never would have been able to if I hadn't just re-acquainted myself with the condition.

I hope Paul's doctors had already figured that much out. You, as a Mom and advocate!, had put all of the pieces together by noting that his flares occurred with bowel & bladder distension, lower extremity skin issues, etc. I hope they are treating Paul more proactively by trying to prevent those flares, rather than dealing with them after they occur.

I would guess that the spinal syrinx is most definitely playing a part in all of this. Please keep us posted on his progress. I keep Paul, you & your whole family in my prayers. You are a fantastic Mommy and Paul is very lucky to have you. Try to take care of yourself as you care so exquisitely for your sweet baby.

Hugs-

Julie

[sue1234]

I am sorry your little one is having so much to deal with, as you are as parents.

There is a forum that deals with brain/neuro issues that might be a resource for you like this one, so that you can get all the angles on what you are dealing with. It is called "Braintalk"--just google it. The talk all about Chiari an syrinx(?) and all that stuff. I had been at their forum looking up stuff about creaky/bad upper neck vertebrae and possible POTS symptoms. They might answer any specific "brain" stuff you might want to know about.

[tinkerbella]

Sending LOVE, LOVE, LOVE....<3 Bellamia~*

[Guest humanb4monitor]

We are all here baby PAUL!

We love you. You all stay srtong and get enough rest and laugh when you can.

(((LOVE & SUPPORT)))

[Guest humanb4monitor]

(((Baby Paul)))

It's almost your 1st summer soltice season change! And happy father's day daddy