Stacey’s Story (Undiagnosed FOD)
When Stacey was 18 months old, she went from being nursed to being bottle fed. It was around this same time that we began to notice some unusual things about her. She seemed to trip and fall a lot – not that 18 month old children don’t – she just seemed to be “more clumsy” than others her age. She had “Jell-O” for arms and legs – no real muscle tone to speak of. She had very low physical endurance. She also suffered from what we described as “full body muscle tremors.” She would simply stop what she was doing, sit down, stare off “into space,” and her arms and legs would stiffen and tremble.
The first neurologist we visited “observed” her for no more than 20 minutes and diagnosed her as a “migraine” baby. She said that what we had seen was a result of dizzy spells brought on by the headaches. The basis for her diagnosis was that Stacey had a “gray pallor” and ate a lot of bananas – food known to induce headaches.
We were young and inexperienced parents, so we initially went along with this. Stacey was placed on Phenobarbital – a controlled substance – with no blood or urine tests or any further investigation into the diagnosis. This went on for about 9 months before we were able to convince the doctor to do further testing.
When the blood and urine tests for finally done, it was discovered that Stacey was severely carnitine deficient. The doctor told us, “we don’t know what Stacey’s disorder is, in fact we may never know. Carnitine deficiency is almost always a secondary problem and we won’t ever know the primary problem.” She went on to say that we could have Stacey admitted for a muscle biopsy, but that it would be traumatic for Stacey, and there really wasn’t any reason to put her through it sense we couldn’t “solve the problem” anyhow. Further, we would be “bad parents” for inflicting pain on our daughter that wasn’t necessary.
Needless to say, we were devastated. What could have gone wrong with our little angel? But even more upsetting – why were we being told by a doctor not proceed any further?? Surely there must be something we could do. So we went back to our pediatrician and were referred to a second neurologist and an enzymologist who specialized in carnitine deficiency, both at Children’s Hospital Medical Center in Cincinnati.
One of the first things we learned was that Phenobarbital is a known carnitine depletion agent in the body. Without having “before” blood and urine levels, we had no way of knowing how low her carnitine levels were to begin with. We immediately began carnitine replacement therapy. She was pulled off of the Phenobarbital and started on Tegratol. The Tegratol was used because the neurologist felt that her “full body muscle tremors” were in fact some form of seizure disorder. Stacey was 2 at this time.
Her carnitine levels were monitored very closely – every 3 months she had blood and urine samples evaluated. Another odd thing began to happen. The carnitine levels rose as expected, but as the dosage of Tegratol increased; her body began to reject it. In a “normal” situation, one should be able to increase the Tegratol from the initial dosage up to the “therapeutic” level. Stacey’s body would not allow this. The Tegratol also had the side affect of making her groggy and lethargic – the more we increased the medication levels, the more tired and depressed she became.
She went in for EEG’s – 15 minute ones while she was awake. They tried to induce a seizure – strobe lights, etc. No seizures and no “abnormal” brain activity were detected. Next they tried a “sleeping” EEG. We noticed that she most often had “shakies,” Stacey’s term for them, while she was sleeping, or immediately after being awakened. Again, the EEG was unable to prove anything. But the episodes continued at home.
On a “good” night, Stacey might have 2-3 shakies. On a “bad” night, she might have as many as 15-20. Her worst night was almost 40. It seemed that when things happened that altered her metabolism, things would get worse. For example, if she was sick and running a fever, she would have more shakies. If she fasted, or had too much fat in her diet, she would have more. It was incredibly hard to get her to eat and/or drink when she was sick. She would end up in the ER just about every time she got sick for her glucose “drink in her hand.”
In the midst of the EEGs, we decided to have a muscle biopsy done. Stacey was admitted to the hospital for the procedure. It was done outpatient, and despite the comments of the first neurologist, she did well and is not scarred for life! In fact – she looks at her scar on her leg today and simply says, “That’s where the doctors took my muscles out.”
The results, fibroblasts, of her biopsy were sent to Duke University, Baylor University, Washington University in St. Louis, and some place in Lyons, France. This process took a long time to complete. In fact, I do not know if it will ever really be completed. The results again – inconclusive. She was tested for MCAD, LCAD, SCAD, LCHAD. Each time they thought they had it figured out, they would run “one more test” to confirm their findings and the test would not yield the “expected results.” They have now run out of “known disorders” to test for. It may be that she actually has a “primary” carnitine deficiency. But no one has stepped up and said that officially yet.
Back to the EEGs… When the first 2 EEGs failed to show anything, Stacey was admitted to the hospital for a “telemetry” EEG. She was “wired” to the machine for about 72 hours, in order to monitor her both in waking and sleeping hours, hoping to catch a seizure on the EEG and videotape.
While Stacey did have a couple seizures while in the hospital, they results were determined to be “inconclusive.” There wasn’t a specific location in her brain that could readily be identified as the “source” of the seizure. In fact, the video showed that the seizure had begun prior to the EEG recording any associated brain activity.
Since the Tegratol was not controlling her seizures, they switched her to Neurontin. This did not have the groggy and lethargic side affects, but replaced those with causing Stacey to gain weight. It altered her metabolism in such a way that our daughter, who had consistently been on the low side of weight for her height, gained weight at an unhealthy pace. Soon she was able to wear her sister’s clothes. Her sister is more than 2 years older! This drug also failed to effectively control her seizures.
So… we went back to the telemetry EEG unit at Children’s Hospital. More seizures were caught on tape. Again – there wasn’t a decisive amount of brain activity to say anything new. I asked if these could be metabolically induced seizures. I was told that there isn’t any way to test for that, so the answer is NO.
We changed medication again! This time to Lamictal, another controlled substance. This one made Stacey hyper! No more groggy and lethargic. No more weight gain. But we now had a child that became very active! But we still didn’t have effective seizure control. Several months into Lamictal, we were alerted by a news program that Lamictal should never be given to children!
Stacey is now almost 8 (her birthday is June 26). She is classified by her doctors as “beyond research.” She is on a combination of Tegratol and Neurontin. She is at the lowest level of medication in her life. While we were hung-up looking for the cause of the seizures, we were also still monitoring carnitine levels. Over time, she improved and her levels reached back into the “normal” ranges. Her muscle tone has improved greatly, as well as her endurance in physical activity.
Today, we continue to monitor her intake of fat, and provide her with her medication. We also try and balance her medications with nutritional supplementation. This works well when she will take it. But she is still a child, and as such, there are times when she gets tired of all these things. The medication is easy – swallow a couple pills and be done. The nutritional supplementation can slide – but for now the meds can not.
To look at her, she is a happy healthy kid. She loves life more than anyone I’ve ever met. She is so happy doing the simplest of things – walking in the woods, riding her bike, drawing with sidewalk chalk, rollerblading on the driveway.
As her parents, we know and live “the rest of the story.” We are thankful for her pediatrician – who has literally “walked through the fire” with us. He has been willing to say, “I don’t know all the answers.” He has worked with us with our “hair-brained” ideas of what might work. And he has “gone to bat” for us with other doctors – explaining that as her parents, we are more knowledgeable about her situation than they are, and that they should take the time to listen to us.
Stacey is truly a treasure from to us from God. Our lives have been blessed with her presence and her love. No disorder is able to take that away from us. The biggest battle is knowing. Once we know, we can adapt. We have done that in our family, and we try to help others do the same. If anyone has any questions for us, please do not hesitate to get in touch with us. Because of this support group, we can reach out to others, and others can reach out to us. We really are All In This Together.
Lisa and Jeff