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My brother's daughter, my four year old niece, was thought to have a common form of epilepsy due to seizures she's been having off and on over the past year.

Yesterday after returning from a Fall break vacation in Florida we got news that her gene test came back from Emory, and it was determined that there is a 99% chance that she has a genetic disorder called late-infantile neuronal ceroid lipofuscinosis:

Late infantile NCL (LINCL, or Jansky-Bielschowsky disease) begins between ages 2 and 4. The typical early signs are loss of muscle coordination (ataxia) and seizures that do not respond to drugs. This form progresses rapidly and ends in death between ages 8 and 12.

This has been devastating for our family. My brother and his wife are still in absolute shock, so much so that I worry about their state of being. They have a perfectly healthy 7 year old boy to take care of but I just don't know how he can go to work every day and take care of the family while knowing any given day could be his last day with his daughter.

There is no cure, there is no treatment. Pain and suffering is a certainty. They're simply told that their daughter's situation will get worse over the next few years and probably go blind by the time she is 6. She isn't expected to live past the age of 12.

I can't imagine going through something like this. This is a horrible, and extremely rare, genetic disorder which most of us never hear about.

I no longer consider myself a religious person, but given the situation I couldn't help but wonder what value religion could have in times like these.

Kevin - I am so sorry that your family is having to face such a horrific ordeal.

I do think that religion can sometimes give people comfort during these sort of situations. People believe their loved one will "go to a better place" and finally be happy and pain-free. And prayer gives people a sense of some hope of control over a situation that simply is beyond our control. Life is really hard sometimes, and I don't begrudge people any tool they can find to help them cope.

Very sorry, you're in my heart. I'm lost of words I don't know what to say.

Best wishes to your family.

That is devastating news. I am so so sorry.

Kevin Graham wrote:My brother's daughter, my four year old niece, was thought to have a common form of epilepsy due to seizures she's been having off and on over the past year.

Yesterday after returning from a Fall break vacation in Florida we got news that her gene test came back from Emory, and it was determined that there is a 99% chance that she has a genetic disorder called late-infantile neuronal ceroid lipofuscinosis:

Late infantile NCL (LINCL, or Jansky-Bielschowsky disease) begins between ages 2 and 4. The typical early signs are loss of muscle coordination (ataxia) and seizures that do not respond to drugs. This form progresses rapidly and ends in death between ages 8 and 12.

This has been devastating for our family. My brother and his wife are still in absolute shock, so much so that I worry about their state of being. They have a perfectly healthy 7 year old boy to take care of but I just don't know how he can go to work every day and take care of the family while knowing any given day could be his last day with his daughter.

There is no cure, there is no treatment. Pain and suffering is a certainty. They're simply told that their daughter's situation will get worse over the next few years and probably go blind by the time she is 6. She isn't expected to live past the age of 12.

I can't imagine going through something like this. This is a horrible, and extremely rare, genetic disorder which most of us never hear about.

I no longer consider myself a religious person, but given the situation I couldn't help but wonder what value religion could have in times like these.

How sad. Is the family Mormon? I am a Christian, an evangelical believer, and I know with a certainty that God can heal. While I know this suggestion will most likely be rejected, I think the child needs to be taken to an evangelical church (Calvary Chapel, Assembly of God, Charismatic, etc.), and be anointed with oil in the Name of Jesus Christ for a healing. The Gifts of the Holy Spirit are still in the Church, and if I was the parent of this poor child I would certainly avail myself of those gifts. I know Mormons think our church is apostate, etc., but trust me, God heals, and often does so through anointing with oil in Name of Jesus and the Laying on of hands. I have been healed myself, and I've seen healing miracles take place with different friends and family (one time when my grandson was severely ill and the doctors were concerned he might die)! My prayers are with this family.

I'm sorry to hear about this Kevin. Someday there may be a treatment. If there is a genetic test, then there is a genetic cause, and amazing things are happening in biomedical research these days. But certainly there won't be a treatment within this child's sadly truncated lifetime.

You mention religion. I guess something like this could be a watershed moment for the parent believer. Either it would make a person throw him/herself more into his/her religion, as a refuge of sorts. Or it would make the believer ask the hard questions about good and evil in nature and the emptiness of magical thinking.

Personally, I believe there is a lot less mental anguish without God. False hope in evangelical "cures" only extends the pain and suffering. Better to know the universe as it really is. Everyone ends. All the suffering comes to an end.

some research is ongoing, by people who don't put their faith in oily hands and muttered prayers:
http://www.ncbi.nlm.nih.gov/pubmed/24997880

Kevin Graham wrote:I no longer consider myself a religious person, but given the situation I couldn't help but wonder what value religion could have in times like these.

I've had family tragedy in the past and wondered about this also. It would be a great comfort to "know" you're going to see your niece again, and that she'll be with your brother again. It's especially hard when it's something you fully believed in the past. I don't have an answer on how to deal with things like this, but my thoughts are with your family.

That is just awful news.

I don't think religion is either a positive or negative in times like this. It can be a source of comfort, or just as easily lead to a sense of betrayal by God; at the worst there can be a feeling that some tragedy is a punishment for wrongdoing. It depends on the people and religion involved.

I'm sorry, Kevin. This is indeed sad news.