Currently, Finnian, Christopher, and myself will be undergoing what is called a trio genetics test to look for inborn errors of metabolism or mitochondrial disease.

This genetics test is much more detailed than what he’s had previously. It will be symptom-driven and comb through his (and our) DNA for any genes that are known to be associated with the symptoms he has. We’re hoping this will lead to a definitive diagnosis that will help in his treatment and plan of care.

Our theory is that we need to continue looking for answers because he has symptoms and issues that cannot (*as of yet; see note at bottom) be linked to the 1q21.1 deletion. And if he has one rare de novo genetic change, then who knows what else could be contributing or causing other issues he has. Everyone has mutations or changes, but are they known to cause disease, are they benign, or are they a “variant of unknown significance”? It’s complex.

They will be looking at nuclear and mitochondrial DNA (nDNA & mtDNA). He has previously only had a basic microarray which looks at the chromosomes for large deletions or duplications. The geneticist feels this testing is the best course of action given that all his other testing has come back normal, aside from a possible carnitine deficiency (which could be secondary to mito or a metabolic disorder). She says it is only fair to him that we keep looking and do right by him. If there is a possible treatment based on a known gene variance then we obviously need to know what it is.

In the interim while we wait 3-4 months for results we have been given an “emergency protocol” to follow. This covers things such as illnesses that weaken him, if we need to take him to the ER, it updates his pediatrician and other specialists of this pending testing, and gives us guidelines for his future surgeries and procedures that will be done under anesthesia/sedation (which is very risky and obviously with his history we need to take these extra precautions).

What led us to this point of testing and this sort of protocol (especially regarding surgery & anesthesia) is a significant developmental regression he had immediately following his g-tube surgery in January 2018. It took him 8-9 months to gain back most of the skills he lost, and we see new things such as ADHD, increased sensory issues, behavior changes, and he still struggles with small regressions anytime he is sick. Hes in multiple therapies. He can be out of school for a week with a cold and by the end of the week cannot remember how to write his name or he regresses in his IEP goals. He cannot attend full days at school, even when “healthy” because his fatigue level sends him crashing (his anxiety goes through the roof which uses even more energy, his level of exhaustion causes his digestive tract to come to a halt and he vomits and can’t tolerate full-volume feeds which leads to more anxiety, he experiences increased symptoms of dysautonomia, etc). Obviously not things we want to see when we know how hard he works to make progress. But, it’s just exhausting for him.

Waiting on his ride to SPED Pre-K, just about falling asleep on his backpack. It was a “silly theme” day at school again so he is wearing his shirt inside out. He was so run down at this point in the year (it was early spring). He’d had multiple back-to-back illnesses and lost weight and wasn’t re-gaining, even with his new g-tube. He only went 1/2 days in the PM, 4 days a week. He received door-to-door transportation during this school year again.

BEFORE: This is how he was writing his name before Christmas break. He’d just turned 5 and was making progress. He learned how to say his ABC’s over break at home, and had finally mastered counting to 10 without skipping the number 4! These were all skills he lost after his surgery.

AFTER: This is how he wrote his name after going back to school post-surgery. He also went from a “mature” grasp back to “palmer/fisted” and the teacher noted he was not naming all letters in his name.

If you aren’t familiar with what mitochondrial disease is, umdf.org and mitoaction.org have some great information. A quick lesson: The mitochondria are the powerhouse of the cell. You probably remember learning about it in biology, but maybe not a lot because what is known even now is still relatively in its infancy. They take in and convert nutrients from the food we eat into energy molecules that our cells can use. Some cells in the body use more energy than others to function. The brain and digestive system use a lot more of our energy than our skin, for example. The brain alone uses 26% of our energy, so when something is going wrong in the production of energy the first place symptoms are usually seen is in the brain or nervous system. It can also slow down the digestive system (which causes things like vomiting, gastroparesis, and/or constipation) and cause exercise intolerance. And the more energy the body needs, such as when fighting off illnesses or when exercising or even just attending full days of kindergarten 5 days a week, the harder it can be for the body to keep up and then recover, if it can manage it at all. This leads to those mini-regressions and fatigue that lasts for weeks past when it seems he is over the actual symptoms of a cold, virus, or even a particularly busy day. We can check a LOT of boxes on the symptom lists (here’s one list where I can check off at least 22: https://www.umdf.org/what-is-mitochondrial-disease/possible-symptoms/). He has 4-5 systems involved and mito should be considered whenever there are 3 or more systems involved.

This is not something that is easy to diagnose, at all. And we’re very aware how difficult it is. He’s already been through a lot of testing with no answers, which is pretty “typical” for mito for things to come back normal in blood work. It just isn’t going to be picked up easily. He had a normal MRI, which is excellent (if something was abnormal that would not lead to a good prognosis). But that’s also what makes it so hard to pinpoint what’s causing his issues! There are muscle biopsies, skin biopsies, and other blood/urine tests, but (as in muscle biopsy) they are expensive, invasive, and sometimes require sedation (which is far riskier for someone with mito to begin with). The muscle biopsy was once seen as the “gold standard” for diagnostics, but that’s no longer the case. In 2019, genetics is the best route for getting an answer. And now we wait.

*I have heard from someone in our 1q21.1 deletion FB group that there is a study that was done, and is so new that it has not yet been published, that links a gene in the deletion to Complex 1 in the mitochondria. I’m told that the deleted gene “runs” Complex 1, so because this gene is deleted one of the complexes in the eletron transport chain doesn’t run correctly. There is also someone else in our group whose daughter was diagnosed with MELAS after she had WES done in 2018 and they found another mutation that causes that specific mitochondrial disease.

Etiquetas » Carnitine Deficiency

Present Day: The Quest for More Answers