The missing link......

After a year of genetic testing we have an answer. Ever since Eln was diagnosed with hearing loss we have been trying to find the reason behind it. In March, when she began having seizures the need to find some sort of syndrome or diagnosis of any kind became even more important. Well I'm relieved to tell you that all our genetic testing has revealed our answer.

Elin has a chromosomal abnormality. She has a 1q44 deletion. This means she is missing about 11 genes on part of one of her first chromosomes. I don't know if you remember much of biology but basically everyone has 13 pairs (or 26) chromosomes- one from dad and one from mom. With Elin's abnormality what they think happened is somewhere during the initial divide and multiply stage of her development (remember a baby starts as 1 cell and divides to 2 then to 4 then to 8 etc...) a copying error occurred. So very early on in the pregnancy her cells that would eventually make up the entire little miraculous person we have today didn't copy correctly.

What this diagnosis tells us.
When the specific genes that are not present in Elin are absent common symptoms are seizure, motor delay, intellectual disability, hearing loss, corpus callosum abnormality and few other things.
So basically every medical issue Elin has can be explained by this deletion. It also gives us peace of mind knowing that she really doesn't have anything else up her sleeve per se. What we see is what we get.

What the diagnosis doesn't tell us.
How Elin will develop. There is a spectrum once again from somewhat normally functioning people with this particular deletion to some who can never live independently.

How do we "treat" Elin?
Same as we always have. Make sure she has her various therapies- (PT, OT, speech/language, feeding, etc) and believe she can accomplish everything in her own time.

We don't know what the future holds but we are looking forward to finding out who Elin can become.