by Anniel 7/9/15
Most of the time patients or their parents misunderstand how diagnoses are actually made and how cures come about. I knew so little about what is important. Like most other people I thought that every symptom we came up with tells something about the condition that will help in finding a cure. The symptom may help in diagnosis, but only if the doctor is listening. That it might help in finding a cure may not be true at all.
One day at the Ronald McDonald House I was sitting in a chair knitting and listening to my daughter, four other kids and two parents who also have Pseudotumor, discussing their medical options. Suddenly one of the girls began to hiccup in an extremely violent manner. All the people there laughed because they knew that people with PTC/Chiari have such horrible hiccups they feel like their sternum and clavicle, or even their ribs, will break with each spasm. One of the mothers told a story of her most frightening and embarrassing bout with hiccups, then the kids all told their stories about the same issue. I finally asked if anyone had told the doctors about this symptom, which all seven of them shared. Everyone looked at me blankly, then one of the kids said, “Why would we? No one really listens to us.” That shocked me because I thought they all talked to and loved their doctor.
A few days later I asked Cate’s main doctor if he knew of the violent and painful hiccups his patients have. He shrugged his shoulders and said, “So they get high CSF pressure on a nerve that causes hiccups. What about it?” That was the end of the discussion. Just as an aside, about five years later a group of mothers was having a conversation when one of them said, “By the way, Doctor A told me today that he’s come up with a new symptom, violent hiccups.” Yeah, well . . .
A question I am frequently asked, even by friends who have watched our whole journey is: Why don’t you just get a new doctor? Really? Do they think we haven’t looked around? There is a reason almost everyone who has the same condition as our daughter winds up at the same hospital with the same doctor. We all know what happens to each other. One need only Google The Chiari Institute in New York City to see what some of the problems are. The story of the Chiari Institute is even more sordid when you know the people involved.
In addition to Chiari and Pseudotumor, some of the patients develop many autoimmune disorders and other conditions. Our daughter, for instance, has been diagnosed at different times with: Systemic Lupus Erythmatoses; Ehlers-Danlose Syndrome, Hypermobility Type; Eosinophilia; Narcolepsy with Cataplexi; Slit Ventricle Syndrome; Hashimoto’s Thyroiditis; Hashimoto’s Encephalitis; Empty Sela Syndrome; Angular Chelitis; Sjogren’s Syndrome; Retroflexed Odontoid; Optic Neuritis; Torticullis; TMJ; Reynaud’s Syndrome; Palinopsia; PCOS; Barratt’s Esophogitis, and she has had many bouts of Chemical Meningitis from blood in her CSF.
Whew! And that’s the short list. She has renamed that portion of her condition as PERVASIVE AUTOIMMUNE DISORDER, which says it all.
I had maintained from the beginning that most of her problems were thyroid related. No one was listening, everyone was getting tired of hearing me say so, and even insulting me, so I quit speaking of it. After several years Cate began going in and out of mini comas. She finally fell into a profound coma and we were invited into the ER room to hold her hand while she died. Her Glasgow Score was near the death score of three and the docs were ready to intubate her when they decided to give her a blast of Narcan to see if it would shock her awake. It did.
When I said it was my family’s thyroid disease creating the problem the docs finally listened. Perhaps I need to further address this disease because of what is happening now about her anti-thyroid antibody levels and what might actually be going on with her. This is a condition personal to Cate, but it may clear up some misconceptions about things that are actually possible, and because of what it showed me. I’ll write about it as a separate article, only if it’s necessary.
I have said before that symptoms alone won’t tell a doctor how to find a cure. After considering how the hiccups had been dismissed I put my mind into figuring out what things need to be answered that might actually be relevant in the search for a cure for PTC.
Pseudotumor is classed as a form of Hydrocephalis, known to some as “water on the brain.” I have met a few people with what I suppose could be called “regular” Hydrocephalus, although there are other forms. This condition causes CSF to collect on the outside of the brain and central nervous system, creating high pressure between the brain and the skull and pushing outward against the skull and spine. The high pressure on the brain causes enlargement of the head and other problems. In 1949, after the death of his own child from Hydrocephalus, a gentleman named Philip Holter, one of the unsung heroes of America, invented a spinal shunt which drains excess fluid from the Central Nervous System. Shunting is also used in the treatment of Pseudotumor, but with less success.
After Cate’s diagnosis it seemed as though we met and spoke with Hydrocephalic patients in very strange circumstances. We learned that shunts could be placed in tiny babies as soon as they are diagnosed with Hydrocephalus. Drainage tubing several feet in length is tunneled into the abdomen of very little children and unwinds as they grow. I met one beautiful 14-year-old girl who, at 5’10”, had finally “outgrown” her tubing and was having a new shunt and tubing installed for the first time since her birth.
I cannot tell you there are never problems with shunts in Hydrocephalus, but not as many as in Pseudotumor. In Pseudotumor the pressure is not on the outside pushing against the skull, but the CSF is pulled inwards and the pressure works almost separately against nerves and structures within the brain and spine. When I asked why this pulling inward happens the answer was, “No one knows.” An answer to that question was one I thought would be of great help in curing the disease.
The other problem I isolated in my mind as very important is why the shunts fail so often in Pseudotumor. Sometimes a shunt will fail within days, or even hours. They get clogged by what the kids who have the condition call “goop” or “slime”, as in, “My shunt was slimed shut.” Patients and physicians alike know that they are in a holding pattern until another shunt revision is needed or the tubing draining into the abdomen becomes blocked so it needs to be rebored (yes, just like it sounds, from the shunt site in the brain or the spine through tissue down to the abdomen or elsewhere). I cannot count the number of shunt revisions Cate has had, either from infections, slime, blocked tubing, or all of the above. I did ask what the “goop or slime” was and was told it is “protein and other matter.” Protein from what, and what is the “other matter?” I was told I didn’t really need to know.
Doctors are also divided as to whether the problem of fluid build-up is from overproduction of CSF, or from failure of the Arachnoid Villi to drain the fluid efficiently. The Arachnoid Villi is a webbing wrapped around the brain and spinal cord, which is highly concentrated at the top of the brain, through which the CSF is thought to be drained.
This brings us to EXTERNAL Lumbar Drainage, which is done by performing a lumbar puncture and placing a drainage tube into the CSF surrounding the spinal cord. The fluid drains outside the body into a plastic bag, with the amount drained controlled by weights on a pole. Before a shunt is installed, a new patient is put on External Lumbar Drainage for 72 hours to determine if a shunt will actually help. If they respond well and feel better, then a shunt is placed. A big HOWEVER here, while the patient may feel great on External Drainage, as soon as the shunt is placed most of the symptoms return, and, of course, the “goop” begins to cause problems. Cate’s doctors have finally admitted that she produces far too much CSF, but she might have a problem of both production and drainage.
So, here are the questions I have thought for a long time needed to be answered:
First, why does the pressure pull inward, inside the brain and CNS, in Pseudotumor?
Second, what action of the brain causes too much fluid to build up? Is too much made, or is it failure of drainage that causes the problem? Or are both involved?
Third, what is the “goop” that clogs the shunts?
It seems like these questions are basic to finding the causes of Pseudotumor.
MORE TO FOLLOW in Episode 4. • (916 views)