Shocked

Since 2013 we have struggled through pain, trauma, loss, mourning, and sadness as we have parented Oksana through some very hard times and done everything in our power to help her and find answers for her only to have nothing help.

If you have followed this blog you know that back in November we became very concerned with some significant regression in Oksana that we had seen happening since very early in the year.  It was recommended that we go see a geneticist.  The geneticist did whole exome sequencing, an extensive type of genetic testing that can take up to 6 months for results.  She told us then that she felt confident that Oksana has a neurodegenerative disease.  She thought Tay Sachs or Niemann Pick Type C.  Over the next month or so we saw almost all of Oksana's primary doctors....pediatrician, physiatry (this is the doctor who manages her CP), psychiatry, and GI....every single one of them said it was clearly neurodegenerative.

I have waited and waited and agonized over the results of the genetic testing. Some days I thought I couldn't possibly take the wait any longer.  I was sure we would finally have an answer to years of questions.  Over the time waiting I did a lot of research and I could totally see why the geneticist suspected the diseases she mentioned.  She fit Niemann Pick Type C really well.  At one point I remember thinking to myself "There is no way this ISN'T Niemann Pick!"

All of my waiting came to an end yesterday.  I finally got the call I was waiting for.  The first thing she said was "I'm sorry but they found nothing that explains what is happening to Oksana".  I just sat there in total silence.  I had no idea what to say.  I could hardly believe it.  She told me that they did find an abnormality on a gene that points to a syndrome, but it is clearly not the syndrome she has.  Basically she told us we just keep watching her symptoms and they will re-test her DNA in 18 months to see if anything has been discovered in that time that might explain what she has.

We are literally back to square one.  After severe mental illness including psychosis, and regression that includes almost complete loss of the ability to walk independently, loss of ability to do any self help skills including dressing and eating, slurred speech that is very hard to understand, and a number of other smaller concerns we still know nothing.  No one knows what will happen from here.  They still think it is degenerative.  They still pushed her wish through for Make a Wish on a rush so she can go as soon as possible (We are leaving for Disney on May 25).  But outside of that all we can do is wait and watch. 

Oh the emotions that ran through me when I got that news.  Shock, sadness, ANGER, lots of ANGER.  You would think that learning that your child has a fatal disease would be the worst news possible, but for me it the worst news possible was no news.  Unless you've been in these shoes that might be hard to understand.  I didn't just want an answer for her, I NEEDED an answer.  I needed to know what caused my child to assault me daily for years.  I needed to know why she suddenly can't do all of the things she could do before.  I needed to know what her future would be like and what I could do to help her.  And as a side note I'm not responding well to "Christian-eze" right now so phrases like "God has a plan.  Trust him." make me want to pull my hair out.  I'm just being honest. 

 In other news, Anya was diagnosed with ADHD yesterday and is now on medication.  If you know Anya at all you will be saying "Hallelujah and praise the Lord!"  We are hoping that she can finally function in the world because her impulsivity and hyperactivity had gotten out of control.  All the behavior therapy in the world wasn't helping and it was finally to the point that it was affecting her education and her life so we took the next step.  She's only been on meds for 24 hours and we are still messing with doses to find what works best for her but we are already seeing a change.

More updates coming.  Off to give Oksana a bath.

A Good Report!

This is going to be all good news.  It feels so good to be giving good news!

Oksana has been home now for almost 2 weeks!  It has been going SO well!  I'm in shock at how smooth things have been.  She has had 2 rough moments since she has been home.  Not 2 a day, or 2 an hour, or 2 that lasted 2 hours, but 2 moments in 11 days!  She is so happy to be home.  She is so happy to have accommodations to meet her physical needs.  She is so happy to be experiencing some of her favorite things again.  Most of all, she has no desire to ever be at residential again.  I think this time might have been a good dose of reality for her.

It's not just Oksana who has adjusted well to her return.  We all have.  Everyone is enjoying having her back.  She involves a TON more physical care now, and a TON less emotional care.  That is a trade that everyone in this family is happy to make.  I worried most about Anya and I think the girls have a better relationship now than we have seen in a LONG time.  I really think Anya sees the difference.  She loves helping to care for Oksana, and she loves taking rides on her wheelchair :).  We call it "The Loraine Train".

When Oksana first came home it was absolutely exhausting caring for her with the other kids.  We have worked hard to find what is working and what isn't and adapt whatever we need to in order to make life easier for all of us.  That has paid off.  It's still exhausting but not near as bad as it was. 

We learned this week that insurance approved her new wheelchair and we are now only a week or 2 from getting it!  She is SO excited.  It is pink and will have her name embroidered on it.  She also got new glasses last week that are pink and we just ordered wrist splints....I bet you will never guess what color she wanted ;).  Pretty soon you will know she is coming when you see the big ball of pink coming at you!

We heard from Make a Wish that Oksana definitely qualifies for a wish!  It took a bit longer than usual because she doesn't have an official diagnosis yet.  They said that happens sometimes and they just need to talk to the medical team in more detail to be sure she still qualifies.  She does!  We are waiting now to hear from our 2 volunteer wish granters who will interview Oksana and find out what wish she wants.  We are so excited for her and for our family! 

I called genetics this week.  Tuesday marks the 3 month point from when we started the genetic testing.  They said that it would take a maximum of 6 months.  I have had such a hard time waiting so I called just to ask if they knew of any progress.  She told me that most tests are coming back in the 2-4 month range right now.  She feels like we might hear something this month and definitely by May.  She also said that all of the tests coming back at 2 months are negative.  The fact that we haven't heard anything yet tells her that they may have found something. 

I haven't been great about taking pictures lately but I will try to get some up here soon.