Shortly after I read through Jayson's MRI report we received on March 16, I sent an email to Jayson's genetic counselor. She and I had done some emailing back and forth over the past few months regarding Jayson's headaches. We asked her if Dr. V ever requested to have our Whole Exome Sequencing re-evaluated looking for migraine genes such as CACNA1A. GeneDx reported that had no common migraine gene mutations. Once I had read a little about Jayson's new diagnosis of Rhomboencephalosynapsis, I was curious to know if this was a condition other kids with his MN1 mutation shared? Or could this mean Jayson has another genetic mutation at play? Do we need to look into Whole Genome Sequencing for more complete answers? If so, we know it can take a while and were interested in getting started soon. She had mentioned in her previous email that Dr. V has been wanting to see us again, so I also inquired when we should try and schedule an appointment. I was not expecting to get a phone call from Dr. V's schedulers requesting that we see him in just TWO WEEKS on April 17th!! That doesn't happen in genetics land. Most people are scheduling out at least a year with genetics. We were so fortunate to get an appointment so soon! It made us wonder if Dr. V had some news for us about the MN1 mutation paper. We were told it was in review status and were anxious to learn about the other MN1 families!!
As we came in for our appointment, we really didn't know what to expect. I wrote down a lot of questions about MN1, a couple of questions about rhomboencephalosyanpsis and genetic causes, and if there was time I wanted to ask him about Jayon's MRI results and if he is aware of any communication behind the scenes or what it all means.
We first met with our genetic counselor, JP. She was totally prepared and came in with printed doctors notes about Jayson's MRI results and discussions happening behind the scenes before we could even ask her! She read us notes from our neuro ophthalmologist's conversation with a team of neuroradiologists. They said,
"I reviewed this imaging extensively with neuroradiology for over 20 minutes-- we found that he had tortosity of the optic nerve, empty sella and flattening of the glove and some venous narrowing on the right (all signs of increased intracranial pressure) in 2018, but these were similar to 2016 and 2014. However, in 2012, the Optic Nerves were not tortuous.
An LP (lumbar puncture) with opening pressure may be helpful in determining wheter ICP is elevated-- so I would recommend: LP with OP, protein, glucose cells (to be sure no inflammatory changes) -- while under sedations, he could have a dilated eye examination with Dr. J if he thinks that is appropriate."
Dr. D
My heart sank. I knew our ophthalmologist told us that Dr. D and the neuroradiolgists found evidence of ICP, but hearing it laid out with the different findings in J's imaging made it so much more real. I took a deep breath and said it was helpful to know what was found and why they believe there is ICP.
Next our genetic counselor gave us a peer reviewed research paper on Rhomboencephalosynapsis. She told us some things we already knew like that it was very rare and there wasn't much research on it. She said this was the most informative study, but it was already four years old. I appreciated her knowing us well enough to know that was exactly what we were looking for! I prefer reading authentic medical research papers, but not all of them are available online. There are many only available to medical professionals or for purchase.
A little while after she left, Dr. V came in. He mentioned that he was aware we had seen a lot of specialists recently and that Jayson has been struggling with head pain. He acknowledged that Jayson was now communicating with an ipad and how exciting that was. He stated he read that Jayson had been pushing on his eyes, and that was not a common behavior if there was not pain or vision issues. Before ever approaching the topic of MN1 he asked, "Have you guys seen the MRI images?" I responded, "No, we have only read the report." He replied, "Okay, I haven't looked at it either, so let's take a look together."
We were thrilled that we were finally going to see Jayson's images and gain a better understanding of what is going on in his brain and why his doctors are suspecting intracranial pressure. Typically this would be the job of our neurologist, but for unknown reasons he had YET to call us with results and explanations.
Dr. V took an entire HOUR to go over Jayson's MRI imaging with us. He brought up all pictures of his current images and well as accessed previous images to compare them to. Although not a neurologist or radiologist, he seemed very comfortable and confident in reading images. He stated clearly that what neurosurgeons would be looking for in Jayson's imaging-- if he needed a shunt. We had wondered this. Both Jayson's chiari and craniosynostosis can cause a need for a shunt. With the fluid collecting behind Jayson's eyes, I wondered if this was a concern for hydrocephalus or a reason for a shunt. Dr. V. explained that they were looking for a build up of cerebral spinal fluid and a Lumbar Puncture could give us good answers. He explained that sometimes there is a build up of storage material in the ventricles that causes the CSF to build and it does not always show up on an MRI, the ventricles stay the same size. The build up in the ventricles makes the membrane thick and can cause it to lose elasticity, so it isn't elastic enough to show evidence of the pressure. He contrasted it to a balloon-- if you blow in a balloon, it enlarges. But if you blow into a rigid object like a hard ball, it won't necessarily enlarge. So if we were to do a lumbar puncture it may show evidence of pressure even if ventricles aren't overly enlarged. He said that if the neurosurgeons see an opening pressure over 30 in addition to the signs and symptoms and behavior changes Jayson is demonstrating, that they will often decide to place a shunt. He also said that one of our neurosurgeons may be able to avoid a shunt by putting in a probe and clearing a way for spinal fluid to pass through. It's a newer procedure that can sometimes be done to avoid a shunt.
He explained there are changes in the optic nerve in the images. He explained that usually the optic nerve will thicken if the pressure increases in the brain. He explained in MPS, you may not always see optic nerve swelling with increased pressure. He said, "So I think you're in the same boat as in MPS, trying to diagnosis when something is wrong as parents and physicians don't have a clue what they're talking about but you know there is something different about how he is doing and that he's usually very well otherwise, and know that something is wrong as parents."
He described several parts of Jayson's brain that looked different, or abnormal, but he couldn't definitively state what was abnormal. We had no idea that Jayson's brain had so many abnormalities as no one has really ever gone over imaging like this with us before. We took a look at the eyes and he pointed out impressive amounts of fluid behind the eyes. He pulled up a past image to compare and show us how Jayson's optic nerves have changed. He analyzed the nerves and said they look tortuous. We reminded him that is what Dr. D had said as she analyzed his images with a team of neuro radiologists. He asked if we knew what caused optic nerves to completely twist like that? Pressure. Typically lots of pressure. He said the nerves, even tortuous, were quite unusual. He questioned if one of the nerves was even completely turned sideways, maybe even kinked. He described one eye with a nerve coming in at an unusual angle and splitting off. He said it appeared the fluid gathering in that eye was even pooling slightly into the brain. He called the right eye a little convoluted. He said it may be worthwhile to get an orbital MRI to look at the optic nerve in detail.
He explained Jayson's brain anatomy is a little different in several areas and he believed it was it's quite compressed. He claimed it's going to take someone thinking outside of the box to determine what we are seeing exactly.
We noticed that Jayson's pseudomeningocele that had been seen in previous MRI's is now drained and there was an empty hole in part of his brain where the fluid used to be. Dr. V asked if we were certain it was a pseudomeningocele and not an arachnoid cyst. I told him we had only heard it referred to as a pseudomeningocele, and some denied it was even there, and no one could answer our question about how or when it was formed considering it was not present right after Jayson's last cranial surgery. It seems this is still a big question. What was it and where did it go, and why is there a hole in his brain where it used to be?
Dr. V printed out a few pictures of Jayson's brain where he thought it highlighted the most obvious abnormalities and also printed out a similar image of Jayson's first brain MRI that looked more typical to compare it to, and show how it has changed over time.
Dr. V also noticed some swelling around Jayson's right eye on the side of his face. I had noticed it too and I had taken some pictures of his face to try and ask about it, but it is so subtle I never brought it up. Dr. V noticed and thought it might have been related to his eye problems and brain pressure.
He reminded us that he would be meeting with neurosurgeons and radiologists to discuss these images, the changes over time, and the many abnormalities we saw. He told us he definitely recommended a Lumbar Puncture to check opening pressures and he saw a lot of potential evidence of pressure in Jayson's brain. Even more important than the Rhomboencephalosynapsis diagnosis was figuring out if there was pressure and how to relieve it.
We finally got around to discussing MN1. I figured this was the entire purpose to our appointment. I anticipated he had some update for us or had read the research paper and could tell us some new information. But there was next to nothing. He had no update. He knew the paper was in review status a while ago and thought it should have been published by now. He suspected that it may have needed some revisions. When I asked if he had read it and knew any new information, he chuckled a little and responded, "I'm an author. I helped write it. Of course I've read it." It then became obvious he could not tell us explicit information because it wasn't published yet, not because he didn't know any more information. He did go through the brain and skull findings of the other children. Jayson was definitely the most complex child when looking specifically at brain or skull. Another child or two had a couple of fused sutures or suspected craniosynostosis, but that was not a common finding among the patients. Some children had conditions similar to a Chiari, but none seemed to have had as complex brain conditions as Jayson. It appeared that there were now TWELVE children instead of SIX, so that was double the numbers in the past year!! That's tremendous growth in identifying new patients. Dr. V explained that each of the patients was very different, although they were all developmentally delayed. They didn't look too similar and they all had different variations of conditions. The doctors and researchers involved are still feeling confident this is a disease causing mutation, but they believe they need to find MANY more patients before they can identify common trends with this syndrome. He explained that it's possible that peer reviewers may not think they have proven this mutation is significant since there is such variability among patients.
He did not think it would be worthwhile to look for any other mutations at this time. He thought it was important to wait and see if they have more patients with this mutation come forward. He thought it may be worthwhile for an interested researcher to do more studies on zebra fish injected with the MN1 mutation. But he felt we were doing everything we can at this moment and the best thing we can do is look for more families. So I guess that is exactly what we will try to do!
We left that genetics appointment feeling very heavy hearted and overwhelmed, but at the same time relieved and full of peace. Mike and I are parents who NEED information. We have to know the facts. We need to see imaging and talk about what we are potentially looking at and what our next steps are. We can NOT be left in the dark. We walked out feeling so grateful and appreciative that our geneticist and staff know us well enough to know what we need. Not many parents would want to go over imaging for an hour and talk about research papers on conditions that many cannot pronounce. But we do. For us, there is power in knowledge and we want as much information as possible to help us make the best decisions possible for Jayson. We heard a lot of bad news, it seemed, in our appointment, but we left feeling more at peace and confident because we were better informed. We had a plan. We had some answers. We knew where to focus our energies. We were very grateful.
As we drove home I couldn't help but feel overwhelmed with gratitude. It was so apparent to me that our Heavenly Father was mindful of us. Genetics is nearly impossible to get an appointment with, yet THEY called US and scheduled one for just two weeks later. We thought that was because they had an update on MN1. Well, they didn't. So why did they even call us? Why did they get us in so quickly? Because God knew we needed this geneticist, his time, his patience and his knowledge at this particular time. Was it coincidence that he was supposed to meet with neurosurgery and radiology later that afternoon? No, I don't believe it was. It was God reminding us we are not alone. He is aware of our struggles and He will not leave us comfortless. Was it just chance that the geneticist wanted to go over imaging, actually knew what rhomboencephalosynapsis was, and was friends with the national expert? No, I don't believe it was. We were in the right place at the right time with the right person, and that was just the answer to our prayers that we desperately needed.
There have been a couple of times now where our geneticist was the answer to our prayers. He is an invaluable member to our team. We are hopeful that we will hear from him again soon about the discussion he intended to have with neurosurgery and radiology. We are hopeful we will hear an update soon about MN1 and the paper. We are hopeful that his connection with the expert in Seattle will be beneficial. We are feeling a little more comfortable about this difficult place we are finding ourselves in. Hopefully soon we can take another big step forward in finding answers for Jayson.
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