Galactosemia Seizure Discussion
Medical Disclaimer: This is my experience, and some of my emotions and what we do as a family for our Classic Galactosemia child. Always consult with your medical team about treatment and diet for Classic Galactosemia. The contents of this website, such as text, graphics, images and other material are intended for informational and educational purposes only and not for the purpose of rendering medical advice. The contents of this website are not intended to substitute for professional medical advice, diagnosis or treatment. Although we take efforts to keep the medical information on our website updated, we cannot guarantee that the information on our website reflects the most up-to-date research.
My daughter was just diagnosed with Focal Seizures, possibly from the right occipital lobe. The neurologist said that it was unrelated to classic galactosemia. I am obviously not a Dr, nor do I have all the medical school, and real life experience. I could be wrong to question, but I have lots of doubt with people who are not medically immersed in helping galactosemia. When the Dr says our daughters’s galactosemia and seizures are not related, it is unsettling to me. It makes my stomach hurt that I do not believe the Dr. It’s too much of a coincidence for me. With this disorder being so rare I get caught up in who I can trust with my baby.
As a nurse, I was suspicions of these staring spells for some time, and people around me kept reassuring me that it was nothing and that is not what they look like. I often doubt myself because being a parent to a rare kid feels like a helicopter parenting.
ALWAYS trust your parenting gut and never apologize for it!!! I know I am trying to do my best, and so are you.
Thank god for our therapy team. Our occupational and speech therapist, independently of each other said something was up with her staring spells. It validated my suspicions. They recommend, I get her checked. I brought her to primary care, who sent me to the genetic team, and they immediately referred us to Neurology. The Dr validated my suspicion and agreed with the possibility of absence seizures, but…(the big but), she says it is not related to Classic Galactosemia. How could this be? Are we just that lucky she has galactosemia and a separate seizure disorder? The Dr says it is a population statistical occurrence that some patients who have galactosemia might also have a seizure disorder. Just like they could have asthma. As a medical professional I understand what she is saying but my mom gut is not on board.
Absent seizures are like someone taking a remote and pausing the person. My daughter can’t processes her surroundings. She has no idea what is happening, and cannot hear you. She will miss everything that I say to her. She also has automatisms, movements that look like purposeful movement. This makes it difficult to interpret her pausing as a seizure vs just staring out of space. She smiles a lot during these episodes and will even continue to walk forward, which also is deceiving. She had an EEG which confirmed seizures, on the hour, every hour, and sometimes multiple times a hour. She stops and starts all day long. Her brain turns “off” and “on” in less than 10 seconds. However, the EEG looks more like a focal seizure than an absence seizure. The whole brain lights up during an absent seizure. She looks like an absent seizure but presents on EEG as focal seizure in one area of the brain, the right occipital lope. We are now schedule for an MRI in March(hello??!! covid-19 we still haven’t had our MRI). I am sooo curious about what this will show. Edema? Hyperintensities?(which are found commonly in galactosemia and surprise, surprise, seizure disorders, that cannot be a coincidence.)
I asked the neurologist if she knew of any specific brain disorders or damage that accompany classic galactosemia. She told me she didn’t. I had already read studies which demonstrate profuse white matter changes in a classic brain. The Dr’s response is so frustrating. In rare disorders this a common part of rare life. You will probably know more that your Drs. Why as practitioners, do they not look up the disorder and do more research, or even give me a solid reason why its not related. Or even say, hey I don’t know but I will call someone who is familiar with the disorder.
Practioners, you are responsible, even when rare to know your patient and find out more. As a nurse and yes I am brining it up, not to toot my own horn, but as a demonstration. My first ever rare patient as a nursing student, was a young child around 8, who had Very long-chain acyl-CoA dehydrogenase deficiency. (VLCADD) He was not the last of rares I have helped. The parents only found out they were carriers, after their first born died shortly after birth. I asked, looked up and researched everything I could to take better care and be their for this family.I spoke with the mother and let her tell me her story and journey. Whenever I have a rare patient, I would ask, and ask, and research. I would have great discussions with my co-workers and really, everyone would look it up and share their info. I have worked with some amazing nurses, and I did not realize how great they were until after my daughter became a patient. Very rarely do I find someone who will go out of there way to look up research data for galactosemia. We are approached like a textbook patient but we are not textbook and we have very limited research and funding for cures. Or we are approached like fake-it-till you make-it type attitude, and they act as if they know everything. Rare diseases and disorders do not get the same treatment as everyone else and it is a lot to overcome when advocating for your little ones. And I get it, there is no cure so really there’s only symptom management for a better quality of life. In addition I know how overwhelmed the medical community is with patients, politics, and everything else into between.
I just think it’s just such a shame that we come across so many brilliant minds and they don’t have more open discussions on other options, or theory’s. Help us think outside the box for better treatment and outcomes. I know you have ideas.
I will be getting a second opinion(which is really a 3rd) through Boston’s Children’s Hospital. Dr Berry our most famous classic galactosemia geneticist works through Boston Children’s. He has made strides in understanding and researching classic galactosemia, so I trust his opinion. I need to trust someone so I can rest at night knowing we are doing everything for her.
Link for Boston’s Children’s Hospital second opinion. It cost $675 and they will retrieve your medical records, give their opinion and often times, add minor or some major changes to your treatment. I know it is a lot of money for someone, but if its possible to save I would try. Even try a GoFund me for the $675.
In the study, “The Natural History of classic galactosemia: lesson from the GALNet registry”, they say 29% of all neonatal studies had Encephalopathy. There was a total of 52% of neurological complications divided into, tremor 31%, general motor abnormality 27%, ataxia 12%, seizures 8.1% and dystonia 7.5%(Rubio-Gozalbo 2019.) The Timmer’s research article suggested that the abnormal signal intensity might be due to a primary abnormality in the biochemical structure of myelin secondary to deficient galactocerebrosides (Timmer’s 2015.) Lower neurite density in patients with classic galactosemia could be an indirect result of abnormal myelination. (Timmer’s 2015.) Mylein helps electric signals to move along the nerves. This myelin help normal motor function, sensory function, and cognition. The article correlates much of the abnormal development in classic galactosemia to structure disfunction in some parts of the brain. Although DWI cannot directly assess myelin, a reduction in myelin will result in lower NDI(neurite density index). In turn, this reduced density could lead to less coherently organized axons, and thus to increased ODI(orientation dispersion index) (Timmer 2015.) With this result they think there could be fine grain damage in some parts of the brain so tiny, that they cannot see through MRI studies. They still suggest a further, larger study of brain imaging. Other studies have observed widespread white matter abnormalities in these patients, with a tendency to be clustered around the lateral ventricles (Nelson et al 1992). Lateral ventricles help with cushioning the brain, cycling nutrients, while removing waste. In my mind these structures could be on overload with all the toxic galactose. The first extensive study on magnetic resonance imaging (MRI) appearance revealed signal hyperintensities on T2-weighted images in the majority of patients’ peripheral cerebral and cerebellar WM(white matter) (Nelson 1992.) Further, mildly enlarged lateral ventricles (in 33 % of the patients) and signs of cerebellar atrophy (in 13 %) were observed. All this information and I just cannot believe that this seizure disorder is not related.
Why the big deal? Well, my husband and I need to make informed decisions for our daughter and we need the correct diagnosis. We started her on a antiseizure drug and its not going well. Our poor two year old is drained, it increases her sensory processing issues, and just regresses her behavior. We also need to monitor her labs because it can effect her body. If we don’t treat her seizures they can lead to further progression into tonic-clonic or even grand mal seizures. This is where I find conflict, there is a trial for AT-007 which will lower toxic levels of galactitol. If her seizures are cause by high galactose levels then wouldn’t this trial be a better option. We never thought of participating in the trial because she has been doing so well. If the seizures are caused by galactosemia, we want to prevent any further brain damage and want to participate. I need medical to go the extra mile and really assess her situation. No one has even talked to us about the possibility of AT-007. But, if she really is just a normal statistical occurrence then participating would not help. As a result, we would not participate in the study. I will update our results after our MRI and consultation with Boston’s Children Hospital, hopefully in a Month.
EDIT***
Since I wrote this article we were see by our expert Dr Berry.
We were given a written expert opinion. I have to say when my family read the summary of her first few days, it was shocking and we cried. I was in the hospital everyday . She had a crash cart out side her room waiting for her. It traumatizes you. She was as close to death as you get. Its hard to see that on paper. Anyway..
He summed up we really can’t figure out if the seizures are caused by galactosemia vs her trauma from the metabolic crisis vs she just has them too. She was so far gone she had severe bouts of hypoglycemia that can cause encephalopathy in return seizures. He said that many kids with CG even at birth have abnormal EEGs and it does not necessarily cause seizures. He also said that in all likelihood it is the galactosemia, but gave the “disclaimers” that seizures are rare and she still had a dramatic 8 days of life. All those factors can go into cause of seizures. No one will really knows what is causing her seizures but the overall onion is to focus on controlling the seizures. Uncertainty is the reason why funding for research is so important. Please donate to the Galactosemia Foundation.
Side note: we will participate in the study and I am still curious to see if her seizure activity will change. She is still not well controlled. I will update you after our experience.
