A large family, homeschooling, adoption, special needs, whatever strikes my fancy, sort of blog.

A large family, homeschooling, adoption, special needs, whatever strikes my fancy, sort of blog.

Saturday, February 28, 2015

Luke's Genetic Test Results


We have Luke's genetic test results.  We recently met with the folks at the MIND Institute to interpret those results.  Turns out, Luke is one in a billion.  He has not one but TWO rare genetic disorders.  So rare, in fact, that neither one of them turns up on one of the "connect with other rare disease parents" websites.

We're calling it Lukey Syndrome, since there's no syndrome name for this combination.  The first variant causes developmental delay with little to no progress throughout childhood.  This comes as a bit of a blow, since Luke has actually been a little more interactive since we've gotten his seizures under control.

The second variant gives us insight into what form of epilepsy Luke has.  That's still a hard word to type.  Longtime readers may remember me having a hard time with the autism label about a year ago.  This is similar.  For some reason, seeing "seizure disorder" under his list of diagnoses doesn't bother me, but the full on epilepsy label is a little harder to take.  This type of epilepsy is often associated with developmental delays, as well, so poor Luke really didn't stand a chance.

There's something very sobering about having someone tell you it's not going to get better, there's nothing we can do, you can come back in a year if you want to.

I've been spending a lot of time researching online, and the line between "seeking information" and "obsessing" is starting to blur.

The largest study I've found of Luke's primary condition had a whopping 23 participants.  I think the reality is that due to modern technology, we're just starting to accurately diagnose different conditions.  100 years ago, Luke would have been labelled "feeble minded" and that would have been the end of it.  Even now, if parents are unwilling or unable to push through the decidedly user unfriendly medical system all the way to the end, kids get a more generalized diagnosis.  For instance, Luke qualifies for an autism diagnosis.  "Autism" covers a broad spectrum of issues, and has no single known cause.  I'm inclined to think now that Luke is NOT autistic, because we know what his condition is, but Luke displays many autistic behaviors.


Really, what difference does it make?  People are going to see him in his wheelchair and ask, "What's wrong with him?"  Should I have the big, "He has a rare disease" talk with them, or would it be simpler to just say, "He's autistic," and move on?  Does that do a disservice to other people with autism diagnoses?

Sometimes answers just bring more questions.

We are still waiting on an appointment with Luke's impossible to get in to see pediatric neurologist to get the results of his muscle biopsy, MRI, and spinal tap (you know, from October and December, sigh).  But I'm not expecting any earth shattering news from those, now that we have the genetic test results.  Either one of Luke's variants could have caused his delays, quirks, and seizures.  Both together just means it's beyond unlikely that his development will improve.

This is it.  We have the diagnosis we've been chasing for the last 20 months, and it doesn't really help.


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44 comments:

  1. Even when you know something is wrong, it HURTS to see it in black and white. Praying for peace for you.

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    1. Thank you, Meg. I've been looking at info on the first condition for a couple weeks, but still having someone say, "yup, that's it" is a grim confirmation.

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  2. I'm glad that you finally know something, but it must be quite a blow to know that the conditions won't improve. I'm sure you're wondering where to go from here. I'll be praying for strength for you, Luke, and your family.

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    1. Thank you, Melissa. Hard conversations happening here.

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  3. Agreeing w Meg. We have our own Luke (but his name is Phineas, LOL) and yes, it hurts like heck to sit in a room and be told that there's nothing to be done. But at the same time, I have found it somewhat freeing. Do not grow weary, sister. God is still on the throne.

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  4. Praying for peace, hope, strength and joy as you move forward with new information and a new sense of direction, though you may not know what that direction is yet. God does and He is directing you. Praying.

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  5. Well that's big news. I just wish it were better news. Keeping your family in prayer.

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  6. Thinking of your family, I'm glad you know something, but wish the knowledge had brought more answers with it. I'll be praying for your family.

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  7. You are awesome! This little guy is so lucky to have such a loving Mum.Your family is amazing and full of love.

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    1. I'm not feeling very awesome, but thank you.

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  8. You just had some very hard words thrown your way so take time to grieve. Prays coming your way.

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  9. I get how how frustrating it is...though I do though feel guilty even complaining...but she is autistic....but compared to Luke, she would be a cakewalk for you. I feel so humbled that you walk through a harder road and are still standing. Which I think is amazing!! But I get how your feeling...its like...is my life and my families life as we knew it over? Will I live out the rest of my days caring for this child? The fear, uncertainty, grief of missing the old life is consuming....and I have come to my own resolution. I am uncertain about her future with us...but I am going to give it my best and see how much time and attention helps her...I am going to pray hard, love her unconditionally and just see if/where God takes us...and in the end...I.have given it my all and Gods going to have to work out the outcome as its all.in Gods hand anyways...no matter how hard I try to change it. We cant change the choice to take our kids...but we can choose how we procced or not in the future. Hard choices need to be made....and we will need to tap into raw emotions and do whats right for us and our families. You have hung in there...and say you kept going...wow....but if you throw in the towel..wow...I still am impressed with you! Just remember as you let his diagnoses set in and digest within your family...no matter what happens in the future...YOU are going to be blesed because you are strong! You are writing,.talking, standing, breathing....dont let the weight of the world crush you...you didnt ask for this..but you are still surving..barely maybe...but your still IN it....your strong Shecki...way strong and both of us are going to work this out....we WILL.....and the outcome doesnt matter...but We matter and God isnt going to leave us

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    1. Your unwavering support means so much to me. I feel like you really get the affect this has had on our family. Thank you.

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    2. Shecki,
      I really do get it..and I think about you every single day because we both face similar paths. I wake up daily and check your blog...I want to hear about Luke because I need to know how you are doing. I pray about the effect this is having on you emotionaly. I can see by your blog, the heart you have always had for kids. You do ALL these things for so many and yet you question...I am sure... how your life ended up this way...especially to someone like you who loves kids but now sees your life sidelined forever with longterm care. I know you never planned this or wanted this, you get up and go to bed nightly in pain wishing things could go back to the way it was and then beat yourself for not acting on the red flags in China. You struggle with loving this child I feel too because loving him would cause you incredible pain. I get that and feel similar because How does a person love someone they cant talk too...or love someone eho has little to no ability if at all to love us back? Then theres the overwhelming.pain.and grief of.....I cant live my old life, I can't move back or even go forward,.I can't evrn help this child!!!!! Its like watching a childs full life disappear. All your dreams and theirs diappear. See in my case, I know what happens in our family needs to be lead by God. I have come to love my daughter, I really do, but I just know if I can't help her, or the rest of my family and my.marriage begin to crumble...we will then begin to discuss how to proceed for the future. Our decisions NEED to reflect what is right for everyone. Hubby and are in the same page. Our daughter improves very slowly but shes going in a positive direction. Our new son to be is either going to do nothing for her or help her. But irregardless of her outcome, he needs a home and really its the best chance shes got to stay with us tio. Frankly, she needs a playmate and we want a child...because we at times feel like we are still.waiting for the daughter we feel like we never got. Selfish...maybe....but its human nature to want to love someone and have them love you back, you know? My girl can love in a more limited way and I love her so darn much it hurts...me. I mean it can break my heart so bad that it literally has left me sick....and I get I couldn't feel this way forever and I am getting better...thankfully. But the impact this creates is mind bogging and just plain sad.As Moms we want the best for our kids and want happens when our best for them isn't possible? When our other kids cry and bargain to God for their precious sister to be healed? Ya it grows our faith and love for all in similar situations..but the depth of pain our families feel and our Mamas heart just wants our babies whole...disbelief wondering why? I don't know what your plan is for Luke..but if it gets to the point of you needing to make hard decisions dont let anyone make you feel bad. You deserve understanding, cimpassion and support....and I stand with you as you decide what you need to do going forward. I continue to pray God shows you love and peace in this storm you are in and pray too that Gods gives you peace in what you need to do next.

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    3. Ps. Sorry about all the typos and spaces....the phone I am typing on keeps moving the line I am on and its frustrating as I try to keep typing and then ending up on another line...ugh...

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    4. I think you're so brave to adopt again! I know one should never say never, but I really can't imagine us adopting again. The situation would literally have to fall in our laps, as we won't be looking for it.

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    5. It is such a leap...and this time...we didnt sign with an agency but instead found him first and went with that agency. I don't think I would ever again sign and have them find referrels for us. I can clearly see how, at least for us why things went wrong. Our agency was good...but the program director never adopted, was desiring to keep the line moving and though they didn't seriously pressure us, still it did feel bad when we said we weren't sure and she gave us every reason why this child was a good choice. I mean the red flags were everywhere! DH told me us picking our child, he feels is best for us....we could pick and choose what kids clicked with us, get their file and make a decision ourselves..no 72 hours to decide, no pressure or deadlines,.no director who has a line waiting for us to choose already. I can't tell you the freedom it was to do things at our pace. So far in one months time..we have gotten tons of pictures and videos...four Seperate updates...we didnt ask for but get regularly. This is their partership so they have constant communication with them. It is easy to see our soon to be son..how he is progressing,etc. Its really better for him and us to have that open communication with his orphanage...this orphanage also has good comments made at how well they prepare the kids. I feel like there is so much more peace going in with him then there ever was with our first adoption. And ya, Its important to make sure adoption still isnt in our hearts before closing that door. Hubby says he has no idea how the future will go with our first...but knew he felt an enormous sadness not having at least one after our oldest kids.....but we sort of looked at kids on lists and keeping an open mind..but thats it. But this child was a game changer and we knew it. And boy do I fear...still.but I have to at least leap...and if we get to china and see a very different child then we can handle..we have decided we will get on the first plane home...no more leaping....after that. We can move forward and be empty nesters and I will move forward knowing I tried. Never for me....just turned into a RIGHT NOW. Shocking..right? I agree! LOL






      ..but to not try again I feel would plague us the rest of our lives. IF this fails...we tried. So yup..never say never cause I am NOT








      brave..not even close...I am taking ONE more chance...after that I am done. And if I still want more kids...well then the biological route is still open. I just refuse to be branded unlucky due to circumstances. As a Christian I fai

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    6. seriously..this phone chopped and cut the whole conversatiin to pieces....hope you got some of that..

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    7. Sounds great! Which agency are you with?

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    8. The agency is Heartsent...I saw they had bad reviews too...but so far our experience with them has been exceptional! I feel like our child is getting great care and thats whats most important to us. I feel like the ladies there are so easy to talk too and amazing. So far...so good!!!

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    9. I haven't heard anything about them. I know a couple of the agencies that have partnerships, that's why I wondered. Best wishes for a speedy process!

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    10. They are a smaller agency and since getting our ONE girl...I knew IF we ever went back the next time(s) I wanted boys only. It would take an amazing girl to consider a female again. I just thought one and done..from the day we accepted her referral....LOL
      I think I must be in the minority of people who would prefer boys and since its easier to find a boy more...well makes adoption simpler. Crazily....I admit I would love another boy IF it was right for our family..but after our daughter...I am taking it one step at a time!

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    11. When my kids were little, I wanted girls. They seemed sweeter, and were more fun to dress, but as my kids have gotten older, the more drama downside of girls has become apparent. There are pluses and minuses to both, and I'm glad I've been able to experience both. I feel very safe when I'm walking between two of my boys that are taller than me, lol. :)

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  10. I haven't been following your entire journey, but saw your update on FB and followed over. First, all I see is an amazingly beautiful boy. When I see kids with special needs, I never wonder what's "wrong with them" -- at all. I think things like "I wonder how he/she would like me to interact or communite with them today?" As families become more able to openly discuss these things, I see that most people are starting to understand that a hard diagnosis is not necessary for most daily interaction. We know the little guy is special, and the medical term is not vital to loving him (or even anyone's business.) So happy to see that he has such a large, loving family to care for him and whatever needs he has along the way. You are inspiring to share all this on your blog. I have 6 kids, but so far, no special circumstances such as this. I don't know if I'd be as strong. I'd obsess, but I don't know that I would be as helpful. We'll pray for you and also for your kids to know the best things to say to people who ask about your son's condition, but honestly... aside from the struggles you'll have that are pretty private.. from the outside world, there isn't much you have to say. What a cutie!!!

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    1. Thank you. We are choosing not to share specific diagnoses at this time, and I appreciate hearing that I don't owe everyone an explanation.

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  11. You are loved, dear Shecki, and the battle you have braved has not been for the faint of heart. May the Lord continue to guide you and your family as you walk this journey with Luke.

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  12. HI, I imagine that the "no improvement" bit is the worst. My husband and I once bought a very in-debt veterinary practise. Part of the recovery plan was me working without pay to keep our wages bill down. When it started, I could see the logic - and I was doing it for our long term good. So, yay me! But after several years of working for no direct pay, it really wore on me. I felt less worthy, less competent and less professional (despite an honours degree and a lot of experience). I know that's nothing compared to your situation - Luke is your child and this was only a job. But it gave me an insight into how demoralising it is to work hard for no clear gain. And for us, there was an end to it. I feel so much sadness for you that this diagnosis has not given you an end to aim for - just lengthened the tunnel. Sending love and encouragement. You're doing a great job and all your kids are wonderful. ~ Fiona

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    1. Oh wow. Thank you Fiona for understanding. I think your example is something more people can relate to.

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  13. I am so sorry. ((hugs)) Praying for you...

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    1. Thank you. The prayers of my friends, both IRL and "in the box" are all that's kept us going sometimes.

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  14. Sorry to hear you've got news and it is not good. The only "upside" of a rare disorder is that the smaller numbers means outliers might not have showed up yet. All genetic diseases have varying degrees of penetrance (how much the genes affect the person), so I think you should remain positive about the advances Luke has made since his seizures came under control.

    Whilst it is depressing to get a diagnosis with little hope, at least the uncertainty and the (not very pleasant for Luke) testing is over? And I am guessing based on his lack of improvement over the time he has been home, I suspect you were coming to the realisation that unfortunately he wasn't going to get much better already?

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    1. One of the notable things about one of his diagnoses is how remarkably similar the progression is in all patients, so there's really very little room for hope there.

      It is nice to be done testing. But however much you suspect something, it's pretty grim to have it confirmed.

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  15. Oh Shecki, I am praying for you. Regardless of what you say, you are an amazing woman, because you have Christ in you. He is working through all of this, horrible as it might be. Know our family keeps you in our prayers. Love you, dear friend.

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    1. Thank you. I so appreciate all the prayers.

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  16. I know exactly how you feel about the seizure disorder/ epilepsy diagnosis. I felt the same way. Knowing that his condition will likely not improve is a hard thing to accept and I am sorry God is asking this of you and your precious little guy! I will never understand til the day I die and can ask Him face to face why God allows some of our precious children to suffer. I can only hope that some day we will know and understand and that it will all have been for a grand and noble purpose! Thanks for joining us the linkup, Shecki! I'd love for you to become a regular!

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    1. Thank you. Since I'm not homeschooling a special needs kid, I probably won't have much to contribute, but I'll certainly link up when it would be appropriate. :)

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  17. I'm not sure how I found your blog, but this story sounds so much like my children's. Especially the study of 23 children. My boys have a mutation on the CASK gene. If Luke has the same thing I'd love to connect!

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    1. Thanks for stopping by! That's not what Luke has, but I certainly understand the urge to connect with other parents in similar shoes. I finally stumbled upon a facebook group for Luke's main issue. You might try searching there, if you haven't already.

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