Updated January 25th, 2015
This site was created by John. John is the Father of Ashley, 21 and Jacob, 18. We are fortunate to live in the beautiful Pacific Northwest. Some things that Ash and Jake enjoy doing with are traveling, snowskiing, and supporting our favorite College football team, the Oregon Ducks.
We first learned of CTX in March of 2004 shortly before Ashley was diagnosed with the disease. Leading up to the diagnosis, there were many signs that she had something going on in her body. From birth, Ashley was afflicted with chronic diarrhea. We had her primary care physician investigate what the cause could be and he reassured us that she would grow out of it. By all other accounts she was a healthy child, during her infancy she was in the high percentiles on height and weight. We had figured that as long as she was thriving that we wouldn’t worry too much and we just learned how to deal with the diarrhea problem. This meant changing a lot of diapers before she was potty trained and was an inconvenience on road trips or when we would vacation to Disneyland. It is very frustrating to be standing in a line for a ride and be near the boarding platform to have to get out of line and take your child to the bathroom.
As Ashley got older and wasn’t growing out of it, we decided to start pushing to diagnose what was going on with her. I should note that Ashley’s weight had declined somewhat, however she was still somewhere in the 60th percentile for height and weight, which was still considered normal. However I should also mention that she had a voracious appetite, which in an average person would probably have resulted in a significant weight gain. We just assumed that she was eating like she did and not gaining significant weight because the diarrhea depleted her system of nutrients and that she had a high metabolism. By this time, her PCP was unable to offer any kind of diagnosis, so we decided to investigate a gastroenterologist.
We had some difficulty with this in that there are no local Pediatric GI’s near where we lived at the the time and none of them do any invasive tests. There is some restriction, whether it’s official or just an undwritten understanding that, in our state, that most non Pediatric GI doctors won’t even touch a child who is under 12 years old. Angie shouldered the majority of the load of pushing for the GI consults. She was laughed out of the office of the first specialist. He simply didn’t believe her when she said Ashley had runny stools upwards of 8 times a day.
Eventually her persistence paid off and we found someone who would see Ashley. He started with most of the basic blood and urine tests, all of which he said looked normal. In retrospect, I am suspicous of how thorough the testing was as it’s documented in many CTX studies that someone with the disease has markedly higher bile alcohol levels in their urine.
Over the course of a couple of years, more tests were run, including those for Celiac Sprue, Chron’s disease and others that I’ve since forgotten, all with no positive diagnosis. It took a long time of convincing this GI that she had a problem, again he thought we were overexaggerating her condition. It was when Angie pushed for a 3 day stool test, that he accepted there was something going on.
Over the course of a few years, the GI doc ran numerous tests on blood, urine, stool and could not come up with a diagnosis other than a generic IBS. He prescribed Loperamide to help slow down her GI tract. It worked for a time but within a few months it lost it’s effectiveness and we were back to where we were before it all started. We tried numerous other things including changing her diet and general allergy tests. All of which yielded no good information.
Some time passed and in late 2003/early 2004, we had noticed that she seemed to be sitting closer to the TV, and holding books closer to read them. Sometime in February, we took her in for an eye examination at a local optometrist shop. We were concerned when he diagnosed her with cloudy lenses and referred us to an opthalmologist. I knew right away that it had to be cataracts, there was really no other possibility. Now it was a matter of getting to what caused them. We took Ashley to see Dr. Charles Bock.
He did a very thorough examination and confirmed our fears that she did indeed have cataracts. We were particularly alarmed because she had tested with 20/20 vision about 6 months previous to the cataract diagnosis when she tested at 20/90. They had developed very quickly which was unusual. He proceeded to tell us the possible causes of them, one of which was diabetes. Her blood had been tested and retested for all types of things so we were able to rule out it as being the cause. Upon further examination, he determined that the cataracts were metabolic in nature and referred us to a genetic specialist. We were about to venture into the unknown and needless to say had several concerns.
I will say that I cannot thank Dr. Bock enough for what he did for us. We had been fighting this battle for nearly 10 years and we finally had a shred of something to go on, little did we know that he would be the one to steer us in the right direction to finally find out what was wrong. It’s apparent now that the cataracts where a blessing in disguise, had Ashley never been diagnosed with them we might have never have gotten the CTX diagnosis until it had progressed into a debilitating condition. If you ever need a top notch opthalmologist in the State of Oregon, I cannot recommend anyone more highly than Dr. Bock.
In addition to his normal duties as a doctor, he went above and beyond to learn about the type of cataract that she had. He also communicated regualarly with the genetic specialist to find out any additional information he could. He was always available to answer questions and made sure that if we had a question that he couldn’t answer that he would research to help us out. Even when we told him we had no more questions, he still asked if we had any more, just to be sure. He showed a concern that most doctors forgot how to do long ago. There are many doctors who could learn something from Dr. Bock.
About a week later we met with the genetic specialist, Dr. George Anadiotis. He did a standard physical evaluation of Ashley, checking some basic motor functions, balance, etc. He proceeded to tell us of various conditions that can cause cataracts in a juvenile, some not so bad, some not so good. He scheduled her lab work so that we could start looking for the cause. He didn’t want to give us too much information so as not to worry us too much. We went to the lab and Ashley gave samples.
The testing that was being conducted required special equipment that was not locally available. It turns out it had to be sent to New Jersey to a doctor who specializes in the type of testing that needed to be done. So the bloodwork was sent off for analysis. As each week passed Angie would call to see if the test results had come back. Each time we were told that it needed more time. After about 3 weeks of this, we were finally told that the individual(s) who were to be testing the samples were gone to a medical conference and it would at least another week before there would be any results. We were getting ready to go on vacation and wouldn’t have the results until we got back. We went and tried to have the best time we could but were still anxious as to what the diagnosis could be.
In mid May 2004, after arriving home from vacation we got the results back. These results turned out to be inconclusive, the suspected reason was that by the time the samples were tested, they were nearly a month old. They now wanted new samples for testing, so it was back to the lab. We were still in the dark as to what they were testing for. When Angie took Ashley back to the hospital to draw more blood, she, being her persistent self took the doctors paperwork when he was out of the room. It had all of the tests that they were running and gave us some information to go on as to what these types of tests were looking for. This information did not sit well, they were looking for some seriously devastating conditions.
I immediately got on google and started looking up these conditions and their associated symptoms. One by one we were able to eliminate a lot of them, which put our minds at ease a little. During this time we had also learned the name of the doctor in New Jersey who was looking at Ashley’s blood chemistry. It turned out to be Dr. Gerald Salen. Dr. Salen is a Clinical Professor of Medicine and Chief of Gastroenterology at the New Jersey Medical School. As I was doing my research, I started to notice Dr. Salen’s name appearing on a lot of studies associated with cholesterol related disorders and CTX. As I learned more about CTX and that it was treatable with a medication called Chenodeoxycholic Acid(CDCA), some of my worry that she had one of the other very serious disorders had subsided. I also discovered that Dr. Salen was conducting a clinical trial on the effects of CDCA in the treatment of CTX. We also learned that CDCA was no longer manufactured in the United States and is not available via a prescription like you would be able to get from your primary care physician.
The reason for this is that CDCA was originally created as a gallstone medication back in the 60′-70’s. It causes a host of side effects in those patients because it is essentially giving the body an overdose of the acid, which is what is lacking in CTX patients. Since then pharmaceutical companies have created a better medication for gallstones making CDCA unprofitable to manufacture for only the handful of known CTX patients. As a result the only place to get it is outside of the United States. We don’t yet know the full impact of this, in particular how long the medication will be continued to be manufactured as we don’t know the full list of conditions that it treats, as far as we know the only uses for it are gallstones and CTX. As drug manufacturing improves in these other countries, the question looms as when the primary use of CDCA becomes obsolete and its only purpose is CTX treatment.
Although we didn’t have a diagnosis yet, the symptoms of CTX matched Ashley perfectly. As a parent you never, ever, even think about wanting your child to have a certain disease, but in researching some of the other conditions that were being tested for, CTX was the least of all evils and we found ourselves wanting her diagnosis to come back as CTX.
In early June 2004, Ashley was scheduled for her her first of two cataract surgeries. She did remarkably well but did have one slight complication. The incision that was used to perform the surgery wasn’t sealing as expected and she had a slight amount of aqueous jelly leaking from her eye. In the majority of cataract surgeries, the stitching that she had would have been adequate. However, it was suspected that her different body chemistry might have contributed to the lack of the wound sealing itself. She was scheduled to go back into the OR to have a new stitch put in.
Nobody was thrilled that she had to go back in, least of all Dr. Bock. He was just beside himself and was at a loss as to why it would happen. It was was just one of those unknown things that none of us could have anticipated. Dr. Bock spoke of being kept up at night thinking about the situation and Ashley. He was very apologetic, of course we never once felt he was at fault for the complication, again an example of how good a doctor he is. About a month after her first surgery she was completely recovered and went in to have her second eye done. Within a month of that she was recovered and was seeing 20/20 with a very mild eyeglasses prescription. Since lense implant patients lose the ability to focus on things up close she has bifocals built into her glasses and has learned to use them well and it’s now second nature to her. In all, the cataract surgery was a huge success.
During her recovery period of the first surgery, we finally got a diagnosis from the blood chemistry, it was CTX. However there was an anomaly in her results. The way it was explained was that there are certain spikes in the results that indicate certain conditions. With Ashley’s results, she had the spike that showed CTX, however they also showed another spike in another area that had a possible indication of another condition in the Leukodystrophy family called Smith-Lemli-Opitz(SLO) syndrome. This conditon makes CTX look like a cakewalk. When we first heard this we immediately started doing research into SLO. Ashley had none of the symptoms of SLO so we were puzzled as to how her results could indicate this. In the time leading up to the diagnosis we had learned that the testing is very sensitive and can show false positive results so we still weren’t sure what could be going on. Here’s an abstract that was written about Ashley and her unusual presentation of possibly having both SLO and CTX.
It was this point that Dr. Anadiotis ordered genetic testing on the entire family to find out if any of us were in fact carrying the SLO gene and also to test Jacob to see if he may be affected by CTX. Even though he had no symptoms we wanted to make sure he did or did not need to start treatment himself. After several weeks of analysis it was determined that Ashley did not have SLO but for some reason the CTX was affecting her slightly different than had been seen in other patients. It determined that none of us were carrying the SLO gene and that Jacob was also not affected by CTX which was good news.
With the diagnosis confirmed, Ashley was immediately enrolled in the clinical trial being conducted by Dr. Salen and was started on CDCA therapy. He would continue to monitor her progress, ordering the tests needed to assess the effectiveness of the medication and the study would cover the cost of the medication.
After her surgeries and recovery, sometime in August of 2004, Ashley was slated for a battery of tests including EEG’s, MRI’s, and various bloodwork. Her MRI was normal, which was comforting knowing that the disease hadn’t yet impacted her brain severely. Her EEG was another story, it showed a myriad of abnormal results from increased electrical activity, which was evident when Ashley had a seizure during the test. We had never known her to have a seizure at any time and were shocked and concerned. Dr. Salen confirmed that seizures are not uncommon in CTX patients, particularly during an EEG where the patient is sleep deprived and they flash a strobe in the face of the patient, two things that can make someone more susceptible to seizing. This didn’t offer much comfort but at least we knew that it wasn’t unusual.
In January of 2005, about 8 months after Ashley started CDCA therapy, she was ordered to have another MRI and another EEG. We were presented with positive news that indicates that CDCA therapy has a beneficial effect on CTX patients. Her MRI was again normal and her EEG showed marked improvement, there were still some slight abnormalities and the EEG technician tried to induce a seizure but was unable to, this was very positive news for us. We will continue to monitor her progress to gauge the effectiveness of CDCA in the treatment of CTX.
Through our advocacy efforts I was invited to join the board of directors of the United Leukodystrophy Foundation(ULF) and am still on the board today. They have been instrumental in helping us help Ashley as well as others to continue to have access to the life saving CDCA and for that we are very grateful. I endorse the organization wholeheartedly and look forward to working with them for many years to come.
As we follow her progress, I will make updates to the front page of the site. Keep an eye on it to see what the latest developments are.