Q & A by Those Affected
Below are some typical Questions and Answers asked by people affected by Noonan syndrome. It is IMPORTANT to NOTE that the answers are strictly the thoughts and or opinions of the person responding. Unless other wise stated these responses come from affected individuals this includes parents.
By sharing our experiences, we give hope and comfort to one another, learning how to live comfortably in spite of the effects of Noonan syndrome.
We will continue to add to this list of questions…
Questions
How can The Noonan Syndrome Support Group, Inc. help me?
Many who come to The Noonan Syndrome Support Group, Inc. are in despair, feeling hopeless, unable to understand what a diagnosis of Noonan syndrome means. We did not ask for our lives to be different. We all come here because we want and need understanding and answers.
Our members share their own experience, and inspire hope with each other. You will meet others who share your feelings and frustrations, if not your exact situation. We think of each other as family.
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Hello and greetings from the Noonan Syndrome Support Group, Inc.
Our first TNSSG, Inc. newsletter was distributed in September of 1996. We have come a long way since that time and our membership has grown by leaps and bounds. We recently mailed the 2005 Winter Edition of our newsletter, The Noonan Connection, which was sent to over 1800 people .
We now have an abridged edition that can be found on our web site at: www.noonansyndrome.org Would you like to be added to our mailing list? If so, please send me your postal address.
The Noonan Syndrome Support Group, Inc. is a newly formed group, which was founded in June of 1996. We offer support to families and professionals whose lives have been touched by Noonan Syndrome.
We also offer a “Parent Packet” that contains information relative to the various aspects of NS. If you would like to receive a copy of this packet, please indicate your desire by sending me your:
cforms contact form by delicious:days
We are a networking group. If you need to talk to someone, please give me a call (during the day or early evening), or feel free to call anyone on our contact list. We would be happy to talk with you.
We also operate a list serv via electronic mail and we encourage you to subscribe. There is no fee for this service, and you get to exchange information with others in the group whose lives are affected by Noonan Syndrome. To subscribe to our list service, send an e-mail to the following:
listserv@home.ease.lsoft.com with the command: “SUBSCRIBE NOONAN-SYNDROME”
It’s hard to express the feeling I had the first time I talked to another parent with a Noonan Syndrome child. It was like coming home. Over the past ten years I had come to believe my child was the only one with NS. This is not the case and today I can truly say I have made some wonderful new friends from all over the world.
Sincerely,
Wanda Robinson Founder & President TNSSG, Inc. PO Box 145 Upperco, MD. 21155 USA 1-888-686-2224 within the USA, or 410-374-5245
Where can I find out how to diagnoses Noonan syndrome?
I have an almost eight year old with Noonan Syndrome named Ethan. Ethan was diagnosed in Columbus, Ohio when he was about four months old. His diagnosis was based on symptoms and characteristics, as are most diagnoses for this condition. In recent years they have come up with a genetic test that accounts for about half of the noonan syndrome cases, and they are looking for other genes that would help explain it. This test is expensive, and while it can confirm Noonan Syndrome, it can’t rule it out.
I think our case was fairly typical. We never heard about NS until several days into what would become a six week stay for a serious bout of congestive heart failure. We knew Ethan was different from our older boys. Low-set ears, extra thick fold of skin on the back of the neck, droopy eyes. Ethan also didn’t have much energy, and was vomiting a lot. They had done a basic genetic workup shortly after he was born and hadn’t found anything, but on this second, longer stay, a younger geneticist did more research and came up with Noonan Syndrome.
At first we were resistant to the idea. But as we read more and more, it just seemed to fit. We haven’t had Ethan back for further diagnosis on his underlying condition. We have had him in for lots of work on the many other things that come up.
What I would recommend is that you read as much as you can about characteristics that go with NS and see which ones fit. Not all of them will. What is important is being aware of what can come up for NS kids and what can be done. This is where knowing about NS was a lifesaver for us. One characteristic that you will see listed sometimes for NS is possible mental retardation. Talking with other parents of Noonies (kids with NS) and with adults with NS clued us in that while mental retardation is possible with NS it isn’t significantly more than the general population. NS kids do tend to have some developmental delays, but with patient work they often catch up. That is what happened with Ethan. At 3 years old he tested at 18 months on just about everything, but with patient work and help of a lot of professionals provided by our school district and our county, Ethan is at average or above for his age group now.
Having the Noonan Syndrome diagnosis simplified getting that help. Knowing that NS males tend to have un-descended testicles helped us keep an eye out for that, and that did prove to be a problem that was corrected in a timely manner.
I don’t know where you are at with doctors and a diagnosis. Below are some links on the internet that have information about NS and what you can do as a parent to make sure your child has a full life. The first is the support group, which you probably already have. The second is a page of links to other sites with information, and the third is a page that lists characteristics in a clear and simple way.
I haven’t answered your question, in that I haven’t given you a tool for diagnosing NS, but I hope I have explained how having the diagnosis was a handy thing to have in our toolkit. If you have any other questions, please let me know, and I hope that all goes well for you and your little one.
http://www.noonansyndrome.org/home.html
http://ibis-birthdefects.org/start/noonan.htm
http://www.specialchild.com/archives/dz-033.html
Good luck,
L. D.
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Malignant Hyperthermia and Noonan syndrome?
Hello Jennifer brings up a good point. One that is very controversial in our Noonan world.
Some, not all, of the groups doctors say there is the possible relationship with Malignant Hyperthermia and Noonan syndrome.
I had an e-mail from an anesthesiologist at Children’s Hospital of Philadelphia last week asking me to remove any reference to Malignant Hyperthermia and Noonan syndrome from our web site. He also stated that he had talked to DR. Noonan and she agreed with him that there is no relationship, between Noonan syndrome and Malignant Hyperthermia.
I talked to Dr. Noonan 2 weeks ago, but, that was not something we talked about.
On January 16th, 2006 I posted an e-mail (see copy below) asking anyone on the list who was diagnosed with Noonan syndrome and
Malignant Hyperthermia to please get hold of the medical records with this information documented and forward it to TNSSG. One person responded and said it was so long ago and they could not remember where it was diagnosed.
We have 300 people on this list, and not one person has been able to provide any documentation that shows a relationship between Noonan syndrome and Malignant Hyperthermia. So, again, please if you can provide this information send it to us.
Just so you know I am on the same page as Jennifer when it comes to my daughters care when she has needed anesthesia, as a matter of fact during her recent week long stay at Hopkins (which did not require anesthesia) the admitting doctor stated Malignant Hyperthermia and Noonan syndrome as part of her medical history!
I think it very important to respect doctors, but, it is OK to have a difference of opinion.
WW
——————————————————————————–
Here is my response to the doctor at CHOP
[ Thank you for getting in touch. First I am not a doctor, just a mom. Did you see the papers below? I talked to Dr. Noonan early this week (about something else) and she did not bring this up. Also talked to Dr. Njoku at Hopkins yesterday, you might want to talk to her about this.
If the literature still reports this as an issue, I think it would be a disservice to remove it from our web site. Additionally we have families with affected members who report MH and Noonan syndrome. If you have any information about research that is being done in this area please let me know and I will include it on our web site.
Spinal Deformities in Noonan Syndrome A Clinical Review of Sixty
Cases
http//www.ejbjs.org/cgi/reprint/83/10/1495?eaf
Anaesthetic management of emergency caesarean section in a patient with
Noonan's syndrome--case report and literature review.
Magboul MM.
Department of Anaesthesia, King Saud University, P.O. Box 7805, Riyadh
11472, Kingdom of Saudi Arabia. magboul@ksu.edu.sa
Patients with Noonan's syndrome present a multiplicity of challenges to
the
anaesthetist, particularly with regard to cardiovascular, spinal, and
airway
abnormalities. Anaesthetist may have to deal with an increasing number
of
these patients presenting to anaesthesia departments requesting
analgesia
and anaesthesia for surgery of labour. Early detection and planing
between
obstetricians, midwives and anaesthetists will help successful
management of
these patients. Alternative methods of management should be discussed
fully
with patients. Regional anaesthesia, although may be difficult in these
patients, is a safe alternative compared to expensive general
anaesthesia.
Publication Types
a.. Case Reports
PMID 11330216 [PubMed - indexed for MEDLINE]
http//www.ddhealthinfo.org/ggrc/doc2.asp?ParentID=5195
http//www.neuro.wustl.edu/neuromuscular/syncm.html
Congenital Myopathy with Muscle Spindle Excess18
a.. Epidemiology Single case; No family history
b.. Clinical
a.. Onset
a.. Birth
b.. Hypotonia
c.. Arthrogryposis
b.. Weakness
a.. Diffuse
b.. Respiratory failure
c.. Areflexia
d.. Face Frontal hollowing; Flaccid cheeks; Triangular mouth; High
arched palate
e.. Arthrogryposis
f.. Cardiomyopathy Atrial tachycardia; Heart failure; Hypertrophic
cardiomyopathy
g.. Organomegaly
h.. Neuroblastoma Congenital; Adrenal
i.. Course Death at 14 months
c.. Laboratory
a.. Normal metabolic studies
b.. Brain MRI Enlarged subarachnoid space & ventricles
c.. EMG, RNS & NCV Normal
d.. Muscle pathology
a.. Scattered atrophic muscle fibers
b.. Muscle spindles Excessive number, 1 or more per fascicle,
especially in deltoid & quadriceps
d.. Other disorders with muscle spindle abnormalities
a.. Myotonic dystrophy Excessive number of intrafusil muscle fibers
per
spindle
b.. Noonan’s syndrome Increased number of spindles
c.. Over-expresion of NT-3 (Mice) Excessive number of spindles
Obstetrics & Gynecology — Abel and Grotegut 101 (5) 1146
A family history was significant for a first cousin with Noonan
syndrome,
and three relatives all had a history of malignant hyperthermia. …
www.greenjournal.org/cgi/content/full/101/5/1146 [Found on Google]
References for Noonan syndrome-1 with the MeSH term
Malignant
Hyperthermia
PMID and date. Follow the link to see the corresponding entry by
PubMed
1113229 Mar 1975
4041573 1985
3895929 Jul 1985
3812408 Mar 1987
9677061 Jul 1998
As I said I am not a doctor, and I will not pretend to understand the first thing about this issue, as a group we report the experiences that parents and those with Noonan syndrome share.
Thank you for getting in touch, ]
——————————————————————————–
Hello list members, as a group we try to provide information that is valid.
As many of you know a controversy exists about Malignant Hyperthermia and
Noonan syndrome. In order for us to ‘prove’ that a connection does or does
not exist to Malignant Hyperthermia and Noonan syndrome, we need documented
cases of people diagnosed with Noonan syndrome and Malignant Hyperthermia .
That means if you/your child have been diagnosed with Noonan syndrome and
Malignant Hyperthermia you need to send me the documentation. Most likely
the Noonan syndrome diagnosis would be made by a genetics doctor, and the
Malignant Hyperthermia diagnosis would have been made by an
Anesthesiologists.
You will need to sign a release form asking the doctor(s) to forward the
documents to TNSSG, C/O NS/MH Study
P O Box 145, Upperco, MD 21155
Thank you in advance for your help and support.
Wanda
Wanda Robinson
Founder & President
TNSSG, Inc.
PO Box 145
Upperco, MD. 21155
USA
1-888-686-2224
within the USA,
or 410-374-5245
The Noonan Syndrome Support Group, INC.
Web page.
http//www.noonansyndrome.org
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Who are the members of The Noonan Syndrome Support Group, Inc.?
Our members are people just like you and me–people who, have, or, have been affected by Noonan syndrome. They are adults, parents, children, spouses, partners, brothers, sisters, other family members, friends, employers, employees, and coworkers. No matter what our specific experience has been we share a common bond: we feel our lives have been affected by Noonan syndrome
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What is the potential for insurance discrimination?
There is the potential for insurance discrimination with a diagnosis of Noonan’s syndrome, but it’s a trade off. You may need services for medical and learning issues that may require the diagnosis to receive.
The issue is mainly one of obtaining private insurance. If you obtain health insurance through a parent’s (and later your son’s) employer, the insurance companies cannot discriminate or refuse to insure your son. If you have had continuous insurance coverage from a previous employment and it is not allowed to lapse, they cannot refuse to cover Noonan related medical issues as pre-existing conditions. So it’s very important to maintain your employer provided insurance, and make sure to pay the outrageous COBRA payments if you switch jobs or experience a period of unemployment. There is a danger of losing insurance coverage if the period of unemployment lasts longer than 18 months (that’s how long COBRA will cover). In these days, with the economy the way it is, that can happen, so it’s something to consider.
It’s not that you can’t obtain health insurance for your son, but if you are forced to seek private insurance you may have to get it through your state’s “high risk pool” and it can be VERY expensive. However, every state in the US participates in programs to help cover uninsured children at reasonable costs, so there are alternatives if you get in this situation with a child. Not, unfortunately, with an adult.
Still, that should not be your only consideration in getting the diagnosis, because there are many other concerns. Besides the potential to access services and benefits for medical and learning issues through public programs, it’s important that there is medical awareness of the diagnosis. Noonie’s can sometimes develop a type of leukemia in their first five years, and there are other bleeding disorders that can develop at any time. Noonie’s should take precautions when they have surgery for Malignant Hyperthermia, which can be a life threatening response to certain classes of anesthesia. Noonie’s should be followed by a cardiologist, because hypertrophy of the heart muscle can occur at any time, even if your child was not born with heart defects. If you don’t have the diagnosis of Noonan’s , these probably won’t be flagged and considered in your child’s medical treatment.
I thought long and hard about all of this myself, and decided that having the diagnosis was the better course for us. I have Noonan’s too, and for me it is even a greater gamble, because I am self employed and if something ever happened to my husband’s employer provided insurance I would be SOL. He has had periods of unemployment that have cost us a fortune to pay the COBRA—more than our mortgage every month! But I have been turned down by private insurance companies for other health reasons—the Noonan’s is just one more excuse for them. Still, the peace of mind of FINALLY knowing what all these signs and symptoms meant and the hope that when my little one (now 5) is ready to start a family she can do it armed with all this information has made the diagnosis worth it to me.
Good luck with your decision.
J. S.
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What is the DDAVP - Challenge?
The Stimate (which is the brand name of DDAVP - the generic name) challenge
can be done with a spray up the nose, and a 1/2 an hour of time (maybe a
little more if the office is really busy). They may still use the words
"DDAVP challenge" (I don't know), BUT STIMATE is the name you need to use to
get the proper *bleeding* medication.
DDAVP is the name for the drug that is used for enurisis (night time bed
wetting), and is not effective for bleeding. I learned this a couple of
years ago through a mistake I made using the name DDAVP. DDAVP and Stimate
have the same active chemical, but they are different dosages, and are used
to treat different disorders. If you don't use the brand name "Stimate" you
are not getting the proper dosage of desmopressin acetate mg/ per ml that is
effective to treat bleeding episodes. Desmopressin Acetate mimics the brain
chemical Vasopressin (which stems from the pituitary). It is a dieuretic
(sp?). If the improper mg per ml is used (as is the case with using the
name DDAVP) then the bleeding will not be able to be controlled effectively.
I'd have to go look at the bottle to be sure of the proper mg. per ml. If
you want write me back, and I'll look to see what the proper dosage is. I
recently filled a emergency room doc about this that didn't know... So I'm
sure there are other docs out there who are unaware of the significance in
using the proper name for the proper amount of drug in the nasal spray. It
used to be that DDAVP came in pill form only. I don't know why the switch
to spray (unless it's more convenient). In the past because DDAVP was only
available in pill form there was no way to mess up the appropriate dosage.
Now there is a way to mess it up, and of course I found it! ha lol So just
make sure you are aware that using the two different names are really two
different treatments (dosages), and will not stop bleeding if you use the
form of the med. called DDAVP.
Even though a BT (bleeding time) can be used to *help* in dxing a bleeding
disorder it is really an antiquated procedure. von Willebrand's disease is
a bleeding disorder that occurs in the intrinsic pathways (inner) which
results in bleeding (more frequently) in the mucosal linings of the body.
The only "outward" mucosal linings of the body are the mouth, nose, vagina,
and rectum. Most of the mucosal linings of the body are inside. So in
other words it (vWd) is hard to detect for another reason (other than the
blood changing with time, and external stimuli possibly changing the results
of the tests). I, personally, don't see a need for a cut on the arm of a
child that can and possibly will bring on anxiety or sadness to try to
detect vWd. It's antiquated, and an ineffective means to determine a
bleeding disorder that does not originate from skin surfaces). Having been
through a bleeding time (with myself, Brenda, and Glenn), and knowing more
than I did back then - I'd argue the true efficacy of a bleeding time in
this dx. today...
Brenda responded positively to the Stimate challenge. She did show flushing
of the ears (which is a normal finding), and then she was prescribed
Stimate. In the prescribing they should go over, in detail, the risks, and
benefits of the drug. Some of the info. is as follows: The drug should be
refridgerated because it does extend the shelf life. When a dose of Stimate
is given for the following 24 hours the liquid intake has to be monitored.
The liquid intake is based upon weight of the patient, and dosage of
medication. If more liquid than is suggested is taken in in a 24 hour
period it is important to understand that it can cause hyponatriemic (I know
I spelled that wrong, but I'm trying to get out the door!) seizures) can
occur. With increased usage of Stimate the effectiveness of the drug can
diminish. In other words the body does become accustom to using Stimate,
and over time more usage can make the drug less effective.
There are other drugs out there than can be used in combination with Stimate
if a patient is finding they are using it more, and using other drugs in
concert with Stimate will help to lessen the risks of it becoming less
effective. Amniocaproic Acid is another drug that we use, in conjunction
with Stimate, to treat Brenda's bleeding. It is also known as Amicar.
Although Brenda has the dx. of vWd and concominant platelet dysfunction her
bleeding (even with her starting to menstruate) has never been a huge
problem. From what I understand (through talking with others) it's a
possibility that it will become more problematic in the future (because some
people don't experience a problem in the first year of their period, and the
second year the bleeding becomes worse.). So I'll let you know if we
encounter heavier bleeding next year~! We're prepared - so that helps...:0)
There are also other drugs (intravenous, and other forms) that can control
bleeding... So don't worry just yet...:0) if the Stimate challenge doesn't
work. If they don't understand that the Stimate challenge can be done with
a spray up the nose instead of an IV I think I'd find another facility~!
The less needle stick - the better for everyone involved...:0)
I hope this helps, and Good luck~!
Nancy --->mom who is always late~! lol
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What is a tethered spinal cord?
Hi all — I have not written in a while, although we have had a lot of news lately with Hadleigh, namely with her tethered spinal cord. I’m not sure where this thread first showed up, or who is having the issue (if any), but I thought I’d add our experience.
Hadleigh has a sacral dimple and she did have a tethered spinal cord, along with gross motor delays. I put off having her MRI for many reasons, namely that she wasn’t showing any of the typical symptoms, which Theresa mentions below. However, last spring her left foot started turning in, and I knew she probably had a tethered cord, although I hoped not. We went to an orthopedic surgeon, who recommended a neurologist, who recommended an MRI (which Hadleigh had to have under general anesthesia because she has had problems in the past with the typical meds used for sedation), which did show a tethered cord. We went to a neurosurgeon and she had the tethered cord released. That is another story, as it is supposed to be a simple procedure, 2 days in the hospital max, and we were there 11 days because of complications which ultimately resulted in her having to have the surgery re-done. That was in early November, and she is fully recovered at this point.
Her foot has not turned back out and we are going to see an orthopedic surgeon next week. Her neurosurgeon thinks that she is a candidate for tendon lengthening surgery because her calf muscles on her left side are in a state of contracture, which means that no stretching or bracing will help. This contracture could, ironically enough, be what is causing the in-toeing, not the tethered cord. I am cautiously hopeful that this orthopedic surgeon will be able to give us an answer and a solution as to why the foot is turning in (which has already caused bone deformity on that foot). We have seen 2 other orthos. in her life and they have been of limited help, and not able to give us any guidance on whether bracing helps, why she toe walks, what could be wrong, etc.
I know that many NS kids have foot/walking issues. Has anyone had a helpful experience with an orthopedic surgeon that they would like to share? One of the biggest problems that I have found in working with PT/orthotists/orthoped. docs is that they all approach the problem with a completely different perspective, and each discipline seems to have little respect for the effectiveness of the other. As a parent trying to ascertain what is best for her child, this conflicting advice is maddening.
S. C.
How to help language development?
There are several things that we did when Idrees was starting to talk that, I believe, helped to accelerate his language development. Let me preface this by stating that Idrees was only mildly delayed with mild hypotonia and no oral-aversion. At 18 mos. he could say 2-3 words and had 10-15 signs. I enrolled him in a music class, known as Music Together, where parents and kids under 4 participate in music and movement. For each session (10 weeks, once/week) they had a CD of original music to go along with the classes. Their stuff is great…some of the songs had no words but only one syllable (dum, dum, dum or dee, dee, dee) that was repeated in a pattern. It was terrific for any kid just learning to make different sounds. I played those CD’s constantly, at home and in the car, and Idrees became quite familiar with both the music and movement, He started humming along in class and before too long, was singing the words too. Music Together is a nation wide program with well-qualified instructors. You can look them up at www.musictogether.com Once Idrees was able to say a couple of words, I bought a video series called, Bee Smart Baby Vocabulary Builder. The videos introduce familiar subjects using the written word as well as spoken word. It is set to classical music. I found this one at www.babybumblebee.com I think Baby Einstein may have a similar product. Anyway, after watching the first video for a few days…sure enough, Idrees starting saying the word for the object on the screen.
I don’t want anyone to think that these things are quick fixes, especially if your child has a motor issue, but I think that these programs accelerated Idrees’ language development and it was something that I could do besides the normal talking, singing, reading activities that we already did.
My 2 cents!
T. M.
What is Arnold-Chiari Malformation?
Hello, You are born with ACM. You can live with ACM your entire life, and not know it (no symptoms occur). You are less likely to have severe repercussions (symptoms interfering with life activities up through symptoms causing life threatening problems) from ACM if you are asymptomatic (have no symptoms). There is no treatment for asymptomatic ACM. People with asymptomatic (not experiencing symptoms) should be carefully followed though because early treatment usually has a better outcome. Once a person with ACM becomes symptomatic is when you need to be proactive in figuring out if Chiari might be at fault because it is a progressive degenerative disease /disorder (I’m not sure which to refer to it as because it fits in both categories). Once the progression of symptoms start they do not go away on their own. Symptoms can *wax and wane* (become less noticeable intermittently), but the eventually escalate over a period of time to become severe (thus the categorization of the disease as “progressive and degenerative”.). Symptoms can remain relatively mild, and you can live with it - but it always progresses eventually. In some patients symptoms progress rapidly. When symptoms progress more rapidly is usually when there is real trouble.
There is no known cure for Chiari. There is only a treatment. Some people with ACM are decompressed (have surgery), go back to living life, and never again experience symptoms of Chiari. Some people are more complex, and have to have repeat surgeries.
Development of symptoms (with ACM) can occur at any time in a persons life. The most commonly described timing is from the 30’s - 50’s, but even children can have symptoms. It is a very variable disorder. It can mimic other disorders. Trauma can trigger symptoms to start to occur. It is not a well known disease/disorder, and patients with it are often mis-diagnosed.
People, and physicians may not be aware of what symptoms go along with the disorder. Also it is very difficult for a child to verbalize what is going on with their body when they know nothing different. For example: My daughter (with NS, and ACM) did not know it was not normal to have a headache every day, be perpetually dizzy, and suffer from gastro symptoms consistently until I sat down with her to explain these symptoms. She just thought it was normal. She lived like that accepting it, and not verbalizing anything was wrong - until she was decompressed or in other words had surgery to take pressure off of her brain (and finally had relief of those, and many other symptoms), and then realized how sick she was. She was 9 years old before we discovered her Chiari, and realized what kind of negative impact it had on her life. I lived with escalating symptoms of Chiari (into my 30’s) because I was so focused on helping my daughter overcome her medical/education/physical problems until we got my daughters dx of ACM, and I had a light bulb moment. I had minor symptoms since I was a child that were blown off, and “rationalized”. My symptoms started to really escalate after I gave birth (birth is a trauma to the body).
Anyone with a child with Noonan Syndrome should be aware that there seems to be an increased risk for ACM. This occurrence (NS & ACM found together in the same patient) has not been formally studied. However, in my mind (and some of the groups physicians agree), there seems to be too many patients with the overlap in such a small group (TNSSG, INC.) for there to be absolutely no connection. If there are symptoms of ACM in a patient with Noonan Syndrome they should have an MRI. There are approx. 10 people in this small group to have been found with the overlap.
Link to a paper written on the coincidence of NS/ACM (unfortunately not published publicly):
http://genetics.faseb.org/genetics/ashg00/f93.htm (You may have to cut and paste this into your browser. Computer genius I’m not!)
The most common symptom of Chiari is headache, but not everyone with Chiari experiences headaches. It effects everyone who has it differently.
Some of the more commonly talked about symptoms: numbness weakness low muscle tone choking sleeping difficulties slow growth or lack of growth speech problems (articulation, acquisition, slurred speech) clumsiness (falling over, tripping, and/or bumping into things) drop attacks (where a person just falls to the ground with no apparent reason) syncope (fainting - there is a different reason for syncope & drop attacks. A person can have both.) dizziness visual disturbances (floaters, gray outs, blurred vision, swollen optic nerve) fine motor skills & gross motor skills difficulties ringing in the ears, fullness feeling, and vertigo nausea facial paralysis pituitary differences (empty sella - flattened pituitary or seemingly non-existent pituitary on MRI) - which can impact growth, sleep, menstruation, and/or puberty) pain (non-specific persistent, can happen anywhere in the body depending on how the brain is compressed) seizure
Syringomyelia (can occur secondarily to Chiari. Syringomyelia - pronounced: seer- in- go- my - eel- ya is a disease process which allows a cyst (named syrinx pronounced: seer-inx) to grow in the center of the spinal cord. If the syrinx inflates or dilates severely it can negatively impact the nerves in the area of the spinal cord in which it grows, and eventually can end up paralyzing a person who has it. An article concerning a patient with NS & Syringomyelia was the first clue to the puzzle of NS & ACM years ago (in the 90’s) before Dar Robinson was dx’ed with ACM. Syrigomyelia can happen anywhere in the spinal cord. It is most commonly found in the cervical area (neck), but don’t let someone tell you that if it is not in the cervical area it can not start lower in the cord. It can, and has been documented to happen anywhere in the spinal cord.
The average place the spinal cord itself ends is between L1 - L2 (lumbar vertebrae #1, through lumbar vertebrae #2 - anywhere in that area it can end and be considered normal). If it ends lower or higher it should not be considered a “normal variant”. There has to be a reason for it to end in a different place. It is possible that it ends somewhere else, and it causes no medical problem(s). A tethered spinal cord can happen *anywhere* in the cord (including cervical). It is more commonly described in the lower portions of the cord, but can literally happen anywhere in the cord. The meaning of tethered spinal cord is that the *cord* is trapped by something (that something could be bone, or soft tissue). A normal spinal cord is free floating in the sac that encloses both the brain and spinal cord called the “dura matter” (dura is often used as the shortened version).
I’m sorry if this offends anyone, but one of my biggest pet peeves with the medical /education communities are the words: “normal variant”, and “clinically insignificant”. According to whom? What was their education? What type of problem are we talking about (normal average problem or complex misunderstood problem)? We have experienced many medical problems, and the words “normal variant”, and/or “clinically insignificant” have been used. In our circumstances those words were used wrong. The bottom line is that those words (and the understanding of the medical problem(s) we experienced) were unusual to begin with. The physicians /educators/psychologists *opinion* helped to further the subjection we were already experiencing to their understanding (or lack thereof) of our medical / educational problems. We were already subjected to a strange medical/ educational problem, and then I had to dispute a professionals *opinion* because they choose to use the words [clinically insignificant / normal variant], and not understand the crux of the problem(s), not research an answer, not understand the suffering… It is difficult enough to have to deal with strange medical / educational problems - it is infinitely more difficult to have to do so when the problem is dismissed due to choice of wording, lack of understanding, and minimilization of a problems existence. Again - sorry if I’ve offended anyone. You can now have the soap box back…. I’ve dismounted it… For now anyway…
I’m an investigator by nature, and am a hard to please medical consumer (No comments from the peanut gallery - please! LOL) - so it may just be me. However, I don’t stop until I find the answers because I feel that a mother is the best advocate anyone can have. I think it’s IMPERATIVE that mothers of children with medical/educational issues *learn how to become advocates* if by nature of their personalities (shy, introverted, or not educated on the topic at hand) don’t naturally allow advocacy to occur. I feel fathers can also be good advocates as well, but unfortunately or fortunately (depending on how you look at things) they are too often stuck in a position of bread winning to do so effectively. Another social ill…for another topic of conversation…
When you are specifically looking to see if a person has ACM the MRI needs to be of the brain and cervical region. If you just get a “brain MRI”, and the MRI consists of lets say *Circle of the Willis* up to the crown of the head - you will not be able to see if a person has ACM. Saggital view is the best view to determine if a person has ACM. Even with this (the perfect view MRI of brain/cervical region) ACM can and has been missed or dismissed (depending on the length of herniation).
I don’t think everyone with NS has ACM, or vice versa - but I think it is important to check out considering how many in this small group have been found with the overlap. I don’t wish having ACM on anyone (It’s difficult at best~!), but if you are found to have ACM and you want help …
N. N.
What to do my child needs surgery-Advice re the operation:-
We live in Brisbane, Australia so are a long way from you and no doubt the medical systems are very different, but perhaps alike in a lot of ways too.
Our now 9 month old Thomas had a catheter and then open heart surgery in August this year. The catheter failed to open his PV successfully. In the open heart surgery, they closed a large ASD and a small PDA and opened his PV as much as possible without removing it. Unfortunately the pressures in his right chamber are still too high so he will be having open heart surgery again in April 2006 and we expect his valve will then be removed. He is also having surgery in February 2006 for undescended testes.
Advice re the operation:-
1. Try and have something to do whilst you are waiting for Carter to come out of surgery. I had to express my breastmilk every 3 hours so that was a welcome diversion.
2. There will be lots of tubes and wires and drugs and everything coming out of your son when you first see him in ICU after the operation. We were warned lots about this and given a tour of ICU and shown other babies etc. I was told nothing prepares for seeing your own child that way though. That is true but the way I looked at it was that all those tubes and wires etc were helping him. We have pictures of Thomas in ICU that I can send you if you would like (but they can be a bit upsetting). Our hospital had a photo booklet showing the procedure etc.
3. Be prepared for Carter to look quite swollen afterwards. Thomas looked a lot bigger than he usually did.
4. Try and keep Evelea’s routine as normal as possible and don’t hide what is happening. We kept Joshua in his childcare (which luckily he loved) and had him visit the hospital before Thomas’ operation and once he was out of ICU but not when he was in ICU. Luckily they had a wonderful toy room at the hospital so he was pretty impressed with that and once he saw Thomas in his cot, he just wanted to go and play. It may however be a little harder with a slightly older sibling.
5. Try to have just one family member/friend that you update so they can pass on news to everyone else (or send a global update email when you get a chance). The whole process is really exhausting and you just don’t seem to have the energy to talk to anyone when you do get a break but family and friends are, of course, eager to know how things are.
6. Visit the hospital beforehand, ask heaps of questions - even those that seem trivial so you know what to expect. Ask about where you sleep/ eat etc. Be prepared to not be able to stay with Carter, as Jill Thursdale noted. No doubt hospitals differ, but when Thomas was on the ward prior to the surgery, we were able to have one of the few private rooms (probably because I was breastfeeding) and I got to sleep on a fold out couch in his room. However, once Thomas had his operation and was in ICU I had to stay in another building (in old nurses’ quarters that family could stay in). Once Thomas was out of ICU and back on the ward (but in the High Dependency Unit of the ward) I could sleep on a fold up couch in the Toy Room and then when he came out of High Dependency and was back in a private room I was back on a fold up bed in his room (all very confusing). It was all very confusing to me at the time and it would have helped me if I knew exactly what to expect. They did give us a booklet with some details in it and I think we were meant to have a Ward Orientation but they were SO busy when we were there I think some things got overlooked.
7. Ask if parents can be provided with meals. I was, but only because I was breastfeeding.
8. It may seem trivial but I turned up at the hospital with heaps of nappies for Thomas and later found out that the hospital supplied the nappies.
9. Ask about parking and any discount parking that might be available for longer periods.
10. Take a small notebook to note questions for doctors and addresses/phone numbers of people you meet that you may what to stay in contact with.
11. Ask the anaesthetist about the risk of malignant hypothermia (can be a higher risk for NS patients) - they can use different drugs to avoid this risk as I understand it. I will never forget asking our anaesthetist about it and he said, in a demeaning way, “you’ve been reading the fine print at the bottom of articles haven’t you”. I regret that I was too stressed and too tired to have a good response. As wonderful as our doctors and nurses were (saints at times) it can become very “everyday” stuff for them whilst it is the most important time in your son’s life. Try to be prepared to be ready to speak up if you feel you need to. I am a professional intelligent woman but looking back on things I am surprised at how reticent I was at times.
12. Take a camera and take some photos of Carter and his experiences. My husband has since prepared a booklet of Thomas’ experiences in hospital incorporating the photos he took (I can email it to you privately if you would like it) and I think it is good to be able to look back on it all when you are a bit less tired and stressed.
13. Remember that if you are the one mainly staying at the hospital and your husband is the one coming and going and looking after Evelea and everything at home it is probably even more exhausting and stressful for him. We were lucky in that we lived in the same city as the hospital but it was still at least a one hour round trip for my husband to the hospital and he had normal life to contend with as well.
A lot of these things seem trivial but I think it makes a big difference if you know how the little things work, particularly if you are new to these experiences.
I must sign off now (I am so tired I am no doubt being far too verbose). If I think of any other things, I will let you know.
Our best wishes are with you and family.
Regards
S. T.