You have a diagnosis. Now what?

In February 2015 there were 19 confirmed cases of people who have PACS1 Syndrome. As more children have Exome sequencing, we have grown to 32 (known) families. In a year. Thanks to this blog, I am sometimes the first point of contact for the newly diagnosed. It is a role I cherish yet at times feel sad that I cannot provide the answers they may be looking for.

Welcome to the PACS1 family! Now what?

It makes it difficult in talking to a new family. Because we do not have the answers. We cannot tell them if their child will be independent (or even toilet trained). We don’t know if they will have vision problems or bowel issues. All I can tell a new family is that PACS1 will impact your child’s life, but it will not limit it.

Thanks to science, doctors can tell us that THIS chromosome is mutated or damaged. That is the problem with a rare syndrome.  That is all they can tell us. We looked at the published research and it was limited to two boys who lived in Europe. There was so many medical issues that the boys had that did not fit Bridget’s mold. First that she was a girl, so no issues with her testicles. Second, while she had myoclonic seizures as a newborn, our neurologist felt at the time (and to this day) it was more due to her brain’s immaturity than typical seizures.

It wasn’t until I found the other families that I realized something important: when you have a child with a rare syndrome, parent experience trumps medical degrees. Sadly other parents of PACS1 children can provide more information than your doctor. Untrained and non-medical we always remind new parents that we can only tell you what worked for our child and hope it works for yours.

I know how disappointed that new parent is, having gone through the process just a year ago of thinking YES a diagnosis, now what?

Through our discussions with other families, we realized what “might” be PACS1 and that other quirks might not be. Our children are all at different stages of development. They have different potential.

Just like a typical child.

Having the diagnosis of PACS1 gives us the answer to why she has challenges. It just doesn’t an answer to her future.

That is the hardest part of being a parent of a child with a rare syndrome.

Which isn’t too different from being the hardest part of being the parent of the typical child.

And that is the message I hope every parent of a newly diagnosed child with PACS1 understands:

Their still your child, they just have a diagnosis.

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4 thoughts on “You have a diagnosis. Now what?

  1. bethbreden

    Perfectly said… You are a great keeper of the gate!!! Kelly has had the PACS1 diagnosis now for two years…. what now……now its time to share info that we have, continue to reach new families and work to spread awareness and pray for research to be done. With more people, we will have more of a voice… with more of a voice and more connections, someone will eventually be interested in research and then the fund raising will come in.

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  2. Farhad Quassem

    As parents we often have or want a “mould” or “template” or “dream” of what our child will be like, what we wish our child to be like: crawling, walking, talking, playdates, pets, homework, art, hockey, soccer, swimming, skating, piano, dance, drama, cake, teenage angst, first romance, first job, college, grandkids..

    When you know they’re different and are looking for a diagnosis, you hope and pray it’s not this… it’s not that… not this either… oh my god I hope it’s not THAT! As each one gets ruled out, you heave a sigh of relief. The thing is, those “other” conditions come with a template, a mould, a set of new dreams that other parents have dreamt and lived. There is a “plan” of some sort.

    With something as rare as PACS1, you really don’t know what’s next – like you said, now what? Any permanent diagnosis is difficult, but when there are no answers to be had, good or bad, You are forced to go through a mental shift… learning to NOT plan… to NOT look for an odd shaped hole for your odd shaped peg… to embrace the NOW and not over-think about tomorrow… and to learn about the world through your child’s eyes instead of teaching your child what you see through yours.

    It’s difficult, there are tears, there are questions, rage, grief, pain and bewilderment… then there is joy. A deep, satisfying, calming joy when you finally realize it’s not about the destination, it’s about the journey.

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  3. Pingback: Never doubt the power of parents | (Un)Diagnosed and still okay

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