There’s even more??

Micah had his Genetics follow up on Wednesday to discuss about DiGeorge/22Q and teach us about what the future might/will hold for our sweet little boy. Well it turns out there’s even more that I hadn’t understood properly the first time they told us about this Dx in May.  I knew about the 22Q11.2 Deletion Syndrome and then they had also mentioned something about an extra gene that gives him more probability of having ADHD. Well, it turns out that’s not the full extent of it. They actually found a 2nd chromosome abnormality called 15Q13.3 Duplication Syndrome. There’s a part of his chromosome 15 that is copied. He has extra. This is a brand new medically observed condition so not much is known about it. It was discovered only in 2009 and nobody really knows what it entails except for what they see in the young kids who now have it. Nothing about adulthood and such. But the big question marks for that one are:

  • Feeding and growth – infant feeding problems and/or overeating in some older children. Growth may be affected.
  • Delayed development – occupational therapy can help with difficulties with motor
    skills; not all children are affected and fine motor skills (handling objects etc) may be more impaired than gross motor skills (walking etc)
  • Learning (intellectual) disabilities – learning support may be necessary in some
    children, with a range of support needed depending on the level of learning disability.
  • Communication difficulties with speech delay in some children – speech and
    occupational therapy are beneficial.
  • Behavioural/emotional disorders – Autistic spectrum disorders, emotional instability and/or sensory processing disorder are described in some children, requiring extra support at home and school.
  • Sleep – Insomnia is common and often quite severe, requiring medication and/or sleep training.
  • Epilepsy – seizures can be a feature requiring regular brain monitoring and
    medication.”Chromosome 15 is a hotspot for deletions and duplications (Fig. 1). On chromosome 15, at 15q13.3, we see deletions or duplications of varying sizes in patients with neuropsychiatric disease. Often, these changes will include the same genes. However, we observe the genetic phenomenon of variable expressivity among patients, with the same genetic changes manifesting as different neuropsychiatric conditions (e.g. ASD, bipolar disorder, epilepsy), and at different levels of severity.Additionally, these changes also exhibit incomplete penetrance, with not all individuals carrying the deletions or duplications having neurological disease.”

“By reviewing the literature, we determined the traits that are associated with different numbers of CHRNA7, suggesting that the gene is sensitive to how many copies are present (Fig. 2)Rare individuals with zero copies of CHRNA7 have the most severe condition consisting of severe intellectual disability, seizures, and changes in brain morphology. More commonly, we identify individuals with one copy of CHRNA7 deleted, which we term 15q13.3 Microdeletion Syndrome. These patients have intellectual disability, seizures, and language impairment. Duplications and triplications (having 4 copies total) of CHRNA7 have much milder neurological manifestations, with mild learning problems, ASD, ADHD, and mood disorders such as bipolar disorder or depression.

Although the pathogenicity of 15q13.3 duplications encompassing CHRNA7 have a lower estimation of penetrance (0.87) than most other genomic disorders,6patients with such microduplications exhibit various clinical symptoms such as developmental delay/mental retardation, autism, muscular hypotonia, and a variety of neuropsychiatric disorders.15However, the relationship between birth defects such as oral clefts and microduplication of 15q13.3 involving CHRNA7 has not been previously explored.”

You can actually see that all of those are already things part of 22Q. But the 15Q13.3 Dup contains the extra CHRNA7 gene (from 1 to 4x copied. Micah has it 1x) that is the one they were telling me about. Those who have this gene are more likely to have Neuro/Behavioural issues. Well then… Now we might have a reason for MY past issues (I have a few of those listed above too… sleep, growth, ADD). Now we need to get tested for this. If one of us carries this extra chromosome abnormality/gene, then Sam and Eli will need testing for it. Eli most likely might have this from his seizures, sleep troubles, possible ADHD, etc. Fun times ahead! I am glad we are getting this done now though and will have more help for the future. It does not change anything in the way I view my kids. They are my world. They mean everything to me and I will continue to fight for them every single day, even if it means getting mama bear out there and putting up the gloves…

For the testing, we have had some bad news at the same appointment though that there were issues with our lab testing in June and nothing was sent off. What??? Grr!! So now we must redo them. But I’m glad because we now are adding the 15Q testing and everything else possible to the list. We checked off the box to give us the info of ANYTHING they might find. Genetics Counsellor will call us back as soon as she gets the results (we are going for the tests this week) and then we will meet up again and discuss a plan for all 🙂

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