The information on this page is presented in chronological order, starting with the start of Scott’s health problems in 2008 and going through to the present day. Jump to the latest entry here: Most Recent Health Update.
Fall, 2008 to March, 2009
Scott’s symptoms began gradually in the fall of 2008 at age 13 with blurred vision and sudden, significant hearing loss (in addition to the hearing loss that was first identified when he was three), raspy voice, and some difficulty with breath control. During January – March of 2009, there were more rapid and frightening changes, including slurred speech, difficulty with balance and walking, loss of motor control on the left side of his body, loss of muscle mass and dexterity in his left hand, marked fatigue, and loss of appetite.
His symptoms stabilized in March, 2009, followed by small improvements in voice quality, articulation, walking, and muscle mass/dexterity of his left hand. Scott has weekly speech, occupational, and physical therapy to try to improve the functionality he does have. There does not appear to be any cognitive impairment. He does not have a lot of energy or much of an appetite, but his attitude remains positive and upbeat.
Scott has had dozens of tests done in an attempt to reach a diagnosis. Almost all results came back normal, which is both reassuring and maddening.
This is a difficult situation for Scott and us. We’re grateful to family, friends, neighbors, teachers, therapists, medical caregivers, and volunteers who have expressed interest in Scott and who have offered support in so many ways.
June, 2009
Scott was first seen by neurologists at Children’s Hospital in Pittsburgh in mid-February, a few days before his 14th birthday. They initially thought he had a brain tumor or had had a stroke. MRIs of his brain and spine at that time and repeated since are clear.
The doctors then began exploring motor neuron disorders, such as ALS (Lou Gehrig’s disease). March 2009 was a very difficult month for us as we faced the prospect that Scott may have a seriously disabling or even life-threatening condition. The neurologists at Children’s consulted with Pittsburgh’s adult ALS specialist, who is doubtful that Scott has ALS. We are still awaiting the results of a juvenile ALS test.
At the end of March, Scott’s neurologists presented his case to Neurology Department members at a care conference. After performing a neurological exam and asking us loads of questions, they excused us from the room and discussed his case. The result was a list of tests (about two dozen) to look at a variety of possible conditions.
To date, Scott has had most of those tests done. Almost all have come back normal. Only two tests so far have not come back normal. One looks at nerve impulses traveling from the brain to the peripheral nerves (EMG) and the other looks at sensory impulses traveling from the peripheral nerves to the brain (SSEP). It appears there is a breakdown in communication between the brain and the peripheral nerves. But exactly where that is and what’s causing it is unknown.
Can we rule anything out at this point? Yes. Brain tumor, various neurotransmitter disorders, Vit. B and Vit. E deficiencies, Friedrich’s ataxia and various other ataxias.
What are the doctors considering at this time? Mitochondrial disorders, heavy metals poisoning, active viruses. Scott’s doctors gave us a list of vitamins and supplements, a “mito cocktail,” that could be helpful. Scott took it for several months, but not feeling any difference, he discontinued it.
Scott’s note: In a recent phone conversation with Dr. V, he told my mom I’d undergone the most genetic tests ever at UPMC (University of Pittsburgh Medical Center) labs!
It seems we are no closer to a diagnosis, despite many doctors’ appointments and tests. Scott has tested negative on virtually all the tests that have been done on him to date. His doctors have backed away from ALS, fortunately, although that remains a possibility.
Last December, we traveled to Philadelphia to see a specialist at CHOP (Children’s Hospital of Philadelphia). In the end, he suggested a rare neurological disease, which turned out to be a dead end. In March of this year, Scott was seen by one of the doctors in the Medical Genetics department at Children’s in Pittsburgh. We were very encouraged because he enthusiastically said he wanted to take a fresh look at everything and he seemed confident he could find some answers for us. After several months, he finally said there wasn’t much he could offer. He doesn’t think Scott has a mitochondrial disorder, even though that’s what the neurologists think.
Scott’s latest neurologist appointment was in August and we were advised that there isn’t much to be done except wait and see what happens. His doctor said Scott may not have a degenerative condition, which is good news. In the meantime, we’re concerned we are missing opportunities for treatments, especially since he is still growing and because it may be more difficult to treat his symptoms the longer this all goes on.
Scott’s insurance company has been denying his therapy sessions, saying they are not medically necessary. We have spent time writing letters to the insurance company, getting Scott’s PCP to call and make the case for more sessions, and working with the therapists’ office to submit strong proposals for additional sessions. Last spring, we went to a grievance hearing at the insurance company’s office in Pittsburgh to try to get another round of Scott’s OT sessions approved. We took him with us. His physical condition speaks volumes and fortunately, the additional sessions were approved. Now (December) we’re getting pushback on his PT sessions and may have to make another trip in to the insurance company with Scott in tow.
We are currently working with rheumatologists at Children’s Hospital in Pittsburgh, who are considering whether Scott’s symptoms could be caused by an autoimmune condition. They are doubtful, but are still considering the question and possible treatments.
Scott is happy that he hasn’t had overly nasty tests this year. He’s had his fill of MRIs, EMGs, blood draws, spinal taps, and slit lamp eye tests.
We’re all hoping 2011 will be the year we get some answers and some treatments that will help Scott.
After two or three years of resisting a muscle biopsy, Scott finally agreed to have the procedure done in December of 2011. The reality was that there wasn’t anything more Scott’s doctors could do with the test results they had. The muscle biopsy was the next logical step.
The procedure was not as bad as Scott had feared and got him out of school for a couple of days right before Christmas break. Researchers sequenced his mitochondrial DNA, which looked normal. They did, however, observe excess DNA in the mitochondria. What the heck does that mean?
We subsequently saw a neurologist at Children’s Hospital in Pittsburgh who is also co-director of their Mitochondrial Disease clinic. She explained the excess DNA as the mitochondria being “all revved up.” For some reason, the mitochondria are working really hard.
Tentative diagnosis. This finding, her observation of Scott’s clinical symptoms, and research on her part turned up a motor neuron disease called BVVL (Brown-Vialetto-Van Laere), which is extremely rare—so rare, that since its identification in 1894, only 59 cases have been reported in the medical literature. Unlike other possible diagnoses that have been considered over the years for Scott and then rejected, BVVL encompasses both sensorineural hearing loss and neuromuscular problems.
Scott’s neurologist is pretty sure this is what Scott has, although we’d all like to have it confirmed with genetic testing. A researcher at University College London has identified two genes associated with BVVL. A lab here in the U.S. tested Scott’s DNA for the first gene, which turned out to be negative. There is no commercially available test for the second gene. However, the researcher is interested in performing his own test on Scott’s DNA for both the first and the second gene. So, just last month, we sent a sample of Scott’s blood, as well as our own, to the researcher in the U.K. It will probably be several months before we hear anything.
BVVL appears to be caused by problems with riboflavin transport into cells, including mitochondria, which are the energy producers in our bodies. Some patients with BVVL have made improvements with megadoses of riboflavin. Scott tried this treatment beginning in April of 2012, but noticed such a little difference that the results are inconclusive. This was a disappointment since some patients have been able to regain some hearing and improve their mobility with the riboflavin.
We will continue to pursue the BVVL theory unless something else that could be a possibility comes along. For many rare diseases, there is no active research going on; we feel fortunate that there is a researcher (perhaps the only one in the world) who is looking at the genes associated with BVVL.
In other medial news, Scott was evaluated for a cochlear implant in December, 2011. His hearing with his aids is just good enough that he doesn’t qualify for an implant. We were at first disappointed, because we have talked with people who have cochlear implants and their ability to hear is amazing. But, if Scott’s hearing problem is with the auditory nerve and not the hair cells in the cochlea, an implant wouldn’t help him significantly. And, an implant could damage the hair cells he does have, which means we could actually make the problem worse. So, the cochlear implant is not under consideration for the time being.
Scott also had various breathing studies done this year. Daytime breathing is within normal ranges, which we were happy to hear. However, a sleep study identified apnea without snoring, mild carbon dioxide retention, and hypoventilation. The pulmonologist hypothesizes that Scott is not maintaining REM sleep, which is not good. We are getting Scott set up with a BiPAP machine and mask, but are concerned about how faithfully he will use them.
The weakness in Scott’s left leg and foot results in foot drop on that side. To improve his ability to walk, we considered a WalkAide device for him in 2011. We subsequently decided to try a leg brace first. He did well with that brace and earlier this year, was fitted with a new leg brace. Overall, he feels like he’s walking better than before he used the braces. So we don’t plan to pursue the WalkAide at this time. One factor in our decision was the price—around $5000—which is not covered by insurance.
Scoliosis is another physical condition Scott has wrestled with since about the age of 10. He’s worn a wrap-around back brace at night for years, until a few years ago when he just got fed up with having to wear the thing every night. Despite our unrelenting efforts to get him to wear it in recent years, he seldom did. His orthopedist believes that Scott has gotten all the benefit from a back brace that he can, so he is no longer wearing one. He definitely has a curve to his spine and we wish he had worn the brace more consistently all these years. Fortunately, the curvature doesn’t cause him pain.
A recent trip to Scott’s dentist revealed that all four of his wisdom teeth are impacted. The oral surgeon we subsequently visited says that all four need to be surgically removed. Due to Scott’s breathing issues, there is some concern about the general anesthesia that would be used. We are still investigating that.
We are waiting for the results of genetic testing to confirm Scott’s neurologist’s clinical diagnosis of BVVL. A sample of Scott’s blood (as well as mom’s and dad’s) was sent to Dr. Henry Houlden, a researcher with University College London more than six months ago. The lab will be looking at three genes: SLC52A3, SLC52A1, and SLC52A2. As far as we know, Dr. Houlden is the only researcher in the world working to discover the genetic causes of BVVL.
Scott continues with the riboflavin treatment, increasing his dosage from 200 mg/day to 600 mg/day to his current dose, which is 3000 mg/day. He has noticed subtle improvements, which could be attributed to the riboflavin. These include reduced problems with eyesight (fluctuating vision, blurred vision), no more dry eyes (which was probably caused by his eye lids not closing completely at night), and increased appetite. He has been on the high dose only since the middle of February, so we hope to see more improvements as time goes on. His neurologist says it could take a year for improvements due to the riboflavin to show up. In the meantime, the riboflavin may be preventing further degeneration. I can’t help wondering if Scott’s age and the number of years he has been experiencing symptoms has something to do with the lack of improvement. Young children who begin the riboflavin protocol can show marked improvement very quickly. Dr. Houlden’s lab may be looking into additional treatments. The fact that there is research going on for BVVL and possible treatments for the disease is extremely heartening.
Scott has been using a BiPap machine for several months now. Although he has trouble keeping it on all night, he says he does feel more rested and energetic. So, that’s good.
Scott’s most recent hearing check showed a slight decrease in his hearing at higher frequencies. This is concerning. We don’t want him to lose more hearing (he doesn’t have much left to lose) and we are fearful it means there is degeneration going on in other body systems. He will have his hearing rechecked in June.
Scott’s speech continues to be slurred and seems a bit worse to me in recent months. He is probably 70% intelligible most of the time and when he speaks carefully, can up that to 90%. He works with a speech pathologist at school to help keep that number up. They have also been working on practice phone calls. Using the phone is very difficult for Scott, given the hearing and speech issues.
October, 2015
All three of us (Scott, Mom, Dad) have had blood drawn for whole genome sequencing, which will be done by the geneticist in London. We shipped the samples off on the 12th. No idea when we’ll get the information back since this is being done a research basis. Scott says it could take five years.
A new diagnosis! We met with a biochemical geneticist at the Clinic for Special Children in Strasburg, Pennsylvania. This was a game-changing appointment!! Based on the doctor’s sophisticated analysis of Scott’s acylcarnitine profile and other tests, he believes Scott has a mitochondrial disorder that mimics BVVL. The was not a complete surprise since we weren’t getting anywhere with the BVVL diagnosis, but still unexpected and absolutely fantastic news! And the even better news: the doctor is optimistic that a “mito cocktail” can prevent any possible degeneration in the future and may even reverse some of the neuromuscular symptoms Scott has been dealing with since 2009. It seem almost miraculous.
The doctor gave several reasons why he thinks Scott has a mitochondrial disorder. Among them: the timing of Scott’s deterioration (at the beginning of puberty) fits with a systemic mitochondrial disorder and a mitochondrial disorder would better explain the asymmetric nature of Scott’s symptoms. He also thinks that the plateauing that occurred at the end of March 2009 (approximately six months after deterioration began) was due to the high-stress period of puberty coming to an end.
It’s possible the mito cocktail could improve some of Scott’s neuromuscular symptoms. Nerve death occurs when the mitochondria die and it’s possible in Scott’s case that there is mitochondrial dysfunction rather than death. The doctor said it is possible for the body to repair nerve damage, although this can take years.
The doctor also said that he believes Scott will eventually be diagnosed with a known mitochondrial disorder, although it is possible Scott has a completely unique mutation.
The mito cocktail needs to be taken faithfully for at least three months before any changes (clinical or otherwise) would be observed. The doctor told us that many patients begin to feel less fatigued at the three-month point. It will take 18 months to two years for the mitochondria to look normal, but clinical changes could be seen before this.
So Scott will immediately begin the following vitamins and supplements–his mito cocktail:
- B50 vitamin. 1 x daily
- Vitamin E 200 IU. 3 x daily for a total of 600 IU/day.
- CoQ10 150 mg. 3 x daily for a total of 450 mg/day.
- Vitamin C 500 mg. 3 x daily for a total of 1500 mg/day.
It’s amazing to me that a few over-the-counter vitamins and supplements could improve Scott’s condition, but how wonderful it would be it actually worked for Scott!
We are thankful for smart, dedicated doctors and researchers in the world. The doctor spent almost two hours with us and was extremely thorough. Scott says the mito diagnosis feel right to him, in part because of the statistical and scientific methods the doctor uses.
I was nearly euphoric after the appointment, but of course, only time will tell if we are now, finally, on the right track.
It has been about year since Scott received the mitochondrial disorder diagnosis. Although no genetic mutation has yet been found, we feel this is the right diagnosis because Scott has noticed the following improvements:
- Within a few weeks of beginning the mito cocktail, began to feel more energetic and more like himself.
- Improved walking and balance.
- Improved hearing. He began noticing it within a few months after starting the mito cocktail and it was confirmed with an audiogram done by his audiologist. Hearing retests have remained stable and perhaps improved a bit.
- Improved upper body control.
- More dexterity of his left hand and fingers.
- Better diaphragmatic breathing.
- Overall, a feeling of well-being.
We are so happy for Scott and hope the improvements continue.
His metabolic doctor has tweaked the mito cocktail. In addition to a B50 vitamin, vitamin E, CoQ10, and vitamin C, Scott is also taking a daily multi-vitamin, carnitine, and Prozac. The later was prescribed because it can induce new neuronal development and therefore help to stimulate recovery of Scott’s nervous system.