So now we have a name for it (genetics/epilepsy content) -- LONG POST

[BartmanPDX]

I debated for a while about whether or not to post this, but I have a lot of friends here and I think getting more information "out there" helps in the long run. Also, I've been pretty open about what's been going on with my daughter, particularly with respect to her service dog Shenandoah.

Well, for nine years the big question has been: “What’s wrong with Kira?” Some of you may know that my daughter has had a very bad case of epilepsy from a very young age. She has been hospitalized many dozens of times with refractory (difficult to control) seizures and seizure clusters, some of which became status epilepticus episodes (state of constant or near-constant seizure for over 30 minutes). Additionally, she has a moderate-to-severe developmental disability and is on the autism spectrum. However, despite a huge number of tests which have been done on her, including virtually every type of brain scan and hundreds of blood tests, as well as trips to Seattle Childrens’ Hospital and finally to the Cleveland Clinic, we have never been able to find any underlying cause of the seizures and disability. Basically, every single test came back negative or normal. Kira obviously had severe problems, but no one had the slightest clue as to why she did. Neither of our families had any history of epilepsy or developmental disorders. All this came completely out of the blue.

One of the doctors at Cleveland recommended we undergo a series of new genetic tests. One of them is a very new test for an extremely rare condition and while they thought it was highly unlikely that she would test positive for that condition (given the lack of any epilepsy in either of our families), my wife pushed hard for that particular test because of Kira’s symptoms. That test came back showing that Kira has a “DNA sequence variant of unknown significance” but which is “very likely pathogenic” according to the computer models. In other words, she has an anomaly (in her case, one they’ve never seen before) on a part of her DNA that is strongly connected to a critical function – cell-cell adhesion between brain cells. In her case, it’s on a protein called Protocadherin-19 (PCDH19), on one of her X chromosomes. It’s a very rare case and likely originated from a random mutation. It’s possible that there are quite a few more girls out there with this condition than have been yet identified, as the test is brand new (only 2 years old) and they only linked this condition to de novo (not carried by the family but newly present in the child) mutations in a March 2010 journal article. So it’s probable that there are some other girls with this condition who (like us) had a diagnosis of idiopathic (unknown origin) epilepsy with developmental delays or something else but haven’t had this one particular (very new, obscure, expensive) genetic test yet.

The poorly-chosen technical name for her condition is “Epilepsy (Female-restricted) with Mental Retardation”) -- EFMR. I say poorly-chosen not merely because it’s not “PC” to use the “R-word” these days but also as there have been cases where affected individuals have had seizures but no developmental disability whatsoever. I have also seen it very occasionally referred to as Juberg-Hellman Syndrome after the authors who first described it. Sadly, Kira is toward the bad end of the spectrum of EFMR. We had recently come to believe that she might have a very closely related condition known as Dravet Syndrome (DS), but when she tested negative for that particular genetic problem, My wife lobbied for the test for PCDH19 problems and they discovered the DNA variant. It’s called “female-restricted” or “female-limited,” because males appear largely unaffected though they can be carriers – which means it is possible that the defect originated in me.

While DS is rare, affecting only around 1 in 40,000, EFMR is considerably more rare. A Yahoo search for “EFMR epilepsy” turned up a mere 500 or so results, and we could find only a handful of medical journal articles that have ever been written concerning this condition, and not a single one of those studies originated in the US. However, we have found a tiny group of seven moms who have girls with EFMR. Their kids seem to have many of the same issues as our daughter. We have also been in contact with the leading person working in the very small field, who works with a group in Australia. They are interested in having us participate in some studies, and while we anticipate that these studies will most likely never result in any treatment or improvement in Kira’s case, we hope that the data they gather may help some family in the future whose daughter might be similarly afflicted.

We pretty much suspected that Kira’s condition was almost certainly incurable and that regardless of what we discovered, that she would require constant, lifelong care and supervision. This basically confirms all that, so it has been a bit of a tough thing to absorb. But at least now we know what is actually causing the condition in Kira’s case. It wasn’t anything we possibly could have known about or prevented; she just had a horrible, random genetic mutation. Really, really, really, really bad luck. Kind of like the opposite of winning the lottery. Kira is one in a million, perhaps literally.

The one bright spot is that although EFMR is an extremely rare diagnosis and thus obscure and not the subject of much research, the prognosis for an affected girl is slightly better than that for Dravet, which was what we had strongly suspected she suffered from. One study reported that many girls with EFMR stopped having seizures at a mean age of 12 years. So we at least have some hope that she might outgrow them, which would probably not have been the case with Dravet. The downside is that some patients with EFMR have showed developmental regression – not good news given that Kira functions at the level of a 2-year-old despite turning 10 this month.

Anyway, we’re managing all this as best we can. I continue to take care of Kira full-time, which is becoming more difficult as she gets larger and stronger. My wife continues to work full-time and is an incredible advocate for Kira – it was her idea to pursue this test and she has been tireless in trying to get more information and contacts with experts throughout this whole ordeal.

I also have a great ally in Shenandoah, Kira’s amazing service dog, who continues to be an incredible help. The dog has also bonded more closely with Kira, who has started really seeking her out and wanting to cuddle her when she’s feeling bad. She also won’t go to sleep without her dog. Kira has been treating Shenandoah better recently and sneaking her various treats, so Shenandoah is spending more time hanging around her. I couldn’t go shopping with Kira these days without the dog – she calms her down and keeps her from running off. It’s getting harder to manage Kira as she gets larger and stronger while I just get older. Shenandoah is pretty big and strong though and I’ve had to use her as a fuzzy “anchor” or to “sled dog” Kira away from a bad situation when she is tethered to Kira, LOL.



Shenandoah is also trained to track and find Kira when she escapes from the house, but we usually stay locked in our house and thus are able to prevent her from running off (except for one terrifying time when she disappeared at a ski resort and we hadn’t brought the dog with us!).

We’ve been very lucky in having no seizures since early May, but we have no idea if Shenandoah is going to be able to alert for the seizures before they happen since the training opportunities have been (thankfully) so few and far between. I’m pretty sure she’ll get it if we go through a rough patch again though.

That’s about it for now. We’re now doing what we can to find out more about all this. I’m basically trying to take a crash course in molecular biology and genetics, which is a bit of a reach for me as my specialty was African History, LOL.


Bart

[warwick.hoy]

Bart,

This is indeed bittersweet news. On one hand you have an answer and on the other that answer only leads to the next of what has to seem endless steps.

This has also been a powerful jolt to reality for me. While I'm ranting and raving about my "problems" they now seem insignificant compared the struggles that you face and the strength and compassion you and your family display everyday. As always I wish you and your family the best and send you good vibes from the Inland NW,...and make sure you give Shenandoah a scratch behind the ear for me.

~James

[IconBasser]

best of luck to you, Bartman. I think it's fantastic that you're willing to put up with clinical trials and tests to further our understanding of genetic disorders, it's a true service to mankind. I recall going through a few of them as a child to help figure out my Tourettes, and it wasn't fun. I think it's entirely possible that medical science will be able to help these kinds of problems with gene therapy within my lifetime, and it wouldn't be possible without decent folks like yourself. On behalf of humanity (even though I'm hardly a good representative of the human race), I thank you.

[tombowlus]

Bart:

I really appreciate that you are willing to share your experiences with us all. This is bittersweet, indeed, but at least you have a frame for discussion, now.

I will certainly keep you and Kira and the family in my thoughts and prayers.

Tom.

[Fran Diaz]

kudos to you and your wife, Bart.

Hang tough and never lose your hope. A cousing of mine had her son diagnosed for an early dead and he's a teenager now. you'll update this thread in a few years to let us all know that the seizures are gone.

[MyWifeBoris]

Tell your daughter that, from a fellow person on the spectrum, that she has my support.

[bongomania]

Hey Bart, I think of you and your family often, even though we've never met "in real life". I don't have anything particular to say about this new development, but just wanted to let you know that I care; I send you and your family good wishes now and often; and I appreciate you sharing your life with us--as hard as it is.

[algernon]

Man, you're so much better than me... I sincerely wish you to have the strength to carry on and all the best to you and your family! Don't lose hope!

Regards,
Adrian

[MJ5150]

Well as much as it sucks to find this out, Kira is still going to come out a winner. I can't imagine there are two more loving, caring, concerned, and devoted parents than you and your wife. Y'all have a plan in place which will go a long way in your family remaining successful.

She has a winning team in her corner. Now go out there and take on the world! Kira FTW!!!

-Mike

[Kelly Lee]

One answer leads to many more questions.

Bart, I pray (and I'm not the praying type) that your daughter outgrows this and she and the rest of your family can move forward. Thanks for sharing with us.

Regards,
Kelly

[tombowlus]

Originally Posted by MJ5150

Well as much as it sucks to find this out, Kira is still going to come out a winner. I can't imagine there are two more loving, caring, concerned, and devoted parents than you and your wife. Y'all have a plan in place which will go a long way in your family remaining successful.

She has a winning team in her corner. Now go out there and take on the world! Kira FTW!!!

-Mike

+1 Well said.

[Chef]

Bart: know that y'all are in my bedtime thoughts each night.
Thanks for the update...

[MonetBass]

I have followed Kira's story with interest since I have a nephew with autism. It's always good to know what the cause of something is, which won't make your road any easier, but at least you know. You have great strength -- more than you think, given your circumstances.

Having cared for my nephew only a few hours at a time, I can't imagine what it would be like if you throw seizures into that mix. (He's nine and functions at a 3-year-old level.) Even though I'm not a geneticist, I have always believed that all conditions are genetically related, either directly or by contributing factors. Kudos to your wife for pursuing this route.

[chondro776]

I can hardly get through your posts.
I am so sad for you and your daughter, but so incredibly thankful that you have your pup to help out.
Best wishes.

[jady]

Sending up lots of prayers for you and your daughter. Her dog is a great gift from God!!!!!!!



That is the sweetest pic I have seen in a long time!!!!

[Hollow Man]

You and your wife really are heroes for putting so much effort into not only making Kira's life as happy as possible, but also into providing information for other families who might be in the same situation.

Cheers to you and your wife for your tireless work, and best wishes for Kira.

[Joeykun]

Originally Posted by MJ5150

Well as much as it sucks to find this out, Kira is still going to come out a winner. I can't imagine there are two more loving, caring, concerned, and devoted parents than you and your wife. Y'all have a plan in place which will go a long way in your family remaining successful.

She has a winning team in her corner. Now go out there and take on the world! Kira FTW!!!

-Mike

+1 I couldnt have said this better.

Bart, Reading this thread is very moving and informative. And, it really shows how lucky Kira is to have such wonderful caring parents.

Kira is so precious. I look at that picture and see a beautiful child. My thoughts are with her and your family, Bart!

Joey

[L-A]

Bartman, I think your level of love and dedication are just as rare as her condition. Of course it's a sad story, but I think she couldn't have fallen in better hands.

[Kawai-chang]

I can't add anything except +1 to all of the above posters' feelings.

[lgrankin]

You're a good man Bart! I've been following your threads for a few years now.

Keep the faith!

LR