Thanks to all who have been praying for Marcus regarding his body twitches and for our visit with the neurologist this past Monday. We were able to see Dr. Joseph Gleeson in San Diego. He is a neurologist and research scientist who has been working with families of those affected with Joubert Syndrome. We were thankful to have had the opportunity to see him. Besides Marcus waking with a 103.5 fever and vomiting on me in his office, it was a great visit. Here are a few of the things we learned: (Some of the info below is medical and may be uninteresting to read, but I’m glad to be able to write it all down for future reference.)
1. His twitches are benign.
The doctor believes Marcus’ body twitches are benign non-seizure muscle jerks. Unfortunately, he does not know the cause of them, but he didn’t seem to be worried about them. We are going to schedule an EEG to test for seizures, but based on the characteristics of his twitches, he does not think they are due to abnormal brain activity. He kind of related them to the types of twitches typical people have right before they fall asleep. We are very grateful that the doctor wasn’t concerned about this and he helped to calm our worries as well. We’re also thankful that these twitches have lessened quite a bit since first noticing them.
2. JS isn’t as rare as we think.
Although Joubert Syndrome is extremely rare, he does not believe it is as rare as people think it is. He believes that JS is highly under diagnosed and often misdiagnosed as Cerebral Palsy. The way JS is diagnosed is through a distinctive malformation of a small part of the brain called the Cerebellar Vermis. But often, this marker goes under the radar because the MRI is misread, or because an MRI is never ordered for a patient. We are extremely thankful to have gotten a quick diagnosis of JS for Marcus at an early age, even though the malformation in his brain is very mild in appearance. Since we know Marcus has JS, we are able to do yearly tests on his kidneys/liver, because some people with JS have failure in these organs. So, having the diagnosis is a blessing. Not to mention the added blessing of belonging to the awesome group of JS families.
3. I may have married my cousin. (yikes!)
Marcus is affected with JS because Mike and I both carry the recessive gene for it. And since the chances of marrying someone with the same recessive gene is so unlikely, the doctor has found that some couples have traced their family lineage and found a relation somewhere along the line. When he asked if Mike and I were related, I felt kind of funny. I mean, many people have always thought we looked alike, but the thought that we could be related never crossed my mind. Who knows, we could be!
4. The genetics of JS is VERY complicated.
There isn’t just ONE gene mutation that causes JS. The researchers have discovered 10 and their still counting. Even siblings who are both affected with JS can have it due to mutations in totally different genes and they can be on opposite sides of the spectrum in terms of severity. We have agreed to participate in Dr. Gleeson’s genetic study, so that means, Marcus, Mike and I will submit our blood samples to him. It will be free of charge (versus the $5000 we would typically have to pay) because it is for his research. However, we may not be notified right away if they find which of Marcus’ genes is affected. It may take years to find out. Part of me doesn’t want to find out, especially if he has the gene that causes kidney/liver failure. But I’m glad we can help him with his research if it means helping out other families in the future.
5. Hope for Marcus’ vision?
Whenever we ask Marcus’ ophthalmologist if he is for sure going to lose his vision due to his Retinitis Pigmentosa, his answer is pretty much a polite “yes”. When we asked Dr. Gleeson the same question, he said, “Most likely, but maybe not.” He mentioned that there is not enough study done of JS patients through the years to give a definitive “yes” or “no”. Yes, patients with RP lose their vision, but do patients of RP due to JS lose their vision as well? Only the Lord knows and only time will tell. We are earnestly asking God to sustain Marcus’ vision for a very long time, since his vision is helping him develop so much.
Overall, it was a positive visit. Mike and I agreed that the best part was talking to someone who actually knew about Joubert Syndrome. Typically, we have to educate our doctors about JS, so it was very refreshing to talk with Dr. Gleeson and have him educate us. We are very thankful!