https://gma.yahoo.com/ucla-researchers-a...lness.html

This is the disease my daughter has. We were excited when this breakthrough was announced and my wife and I were waiting to hear back from the Dr. who is mentioned in the GMA story. We actually received his email last night. My daughter has deletions in the TCC7a protein carried on the 2nd chromosome. It's an extremely rare condition. Like 30 cases in Montreal in the last 30 years. The breakthrough he addressed with scids is more common but even then he has treated 18 cases in California for the whole year. Dr. Kohn was really nice even to take time out of his busy day to explain to us how the procedure works and why it wouldn't work for my daughter. They have to work on restriction enzymes for years that cut the protein in the exact spot on the chromosome where they want it cut. They have to glue back the repaired gene with a tested ligase. He told us this particular gene therapy took him decades to perfect and with it being so rare it was very very hard to generate the funding even for his cases. He was not aware of anybody working on my daughters protein deficiency. It just absolutely broke my wife. We have dealt with so much over the years and then to hear this. It was so painful for me to see her have so much hope. Then the cold reality that was ultimately laid in front of us. This treatment is not for you.

I'm telling you if you looked at my daughter you would see a healthy vibrant child. Her brain function and intelligence is off the charts. She just doesn't have any intestines and lives in a bubble. It just breaks my heart. I just can't shake this feeling of hopelessness. I'm on a raft without a rudder and I know the inevitable lies ahead, but I'm still paddling against the current.

So sorry Mach. Life isn't fair no doubt, especially for a little girl in that condition. My heart goes out to you and your family.

No one with her condition has lived over 6 months. She is 6 now and will be 7 in April.

(11-19-2014 11:35 AM)Machiavelli Wrote:  No one with her condition has lived over 6 months. She is 6 now and will be 7 in April.

My son turned 7 last weekend. I cannot imagine what you are going through.

I've been praying for your baby girl and your family, Mach. My heart goes out to you guys. My baby boy turned 6 last July and I couldn't imagine life without him, or my other three. I'm sorry for the news but I'll keep the prayers going brother.

Mach.. I'm so sorry to hear this.

I'm not sure where you are as far as your spirituality or even if you believe in God or anything, but I'd like to offer up a prayer in here. You don't have to accept it, but it's the only thing I can offer you my friend.

Our most Gracious and Heavenly Father
We come to you to ask for a blessing for our friend's daughter. Lord we know there are things that happen in this world that we as humans don't understand, but You know what your plan is for this child. Lord we know that you are the Great Physician and we ask that you place Your loving and healing arms around this child if it be Your will. Lord please comfort her parents, her family, and her friends during this time. It's in Your Precious Name we pray. Amen

Thanks GDunn.

Mine is 5, turning 6 in January. I couldn't imagine having to go through this. I don't know if you are Christian or not Mach, but I will send my prayers, or if you prefer, just positive vibes.

Really sorry to hear this, Mach. Life is a hill; each step is an experience, be it triumph or adversity or something in between. We don't know how tall it rises or how far it stretches, but we know it leads us to somewhere with a better view.

Keep running up that hill, Mach. We'll be here.

I used to be religious but these episodes in my life kind of wiped that out. When I see her in pain it drives me nuts. I'm just agnostic anymore, but I'm truly hoping there is a God. I'll see my Dad again and undertsand why my family went through this. I've had two children stricken with this.

I couldn't imagine going through something like this. You are in my thoughts and prayers Mach.

(11-19-2014 11:33 AM)Machiavelli Wrote:  I'm telling you if you looked at my daughter you would see a healthy vibrant child. Her brain function and intelligence is off the charts. She just doesn't have any intestines and lives in a bubble. It just breaks my heart. I just can't shake this feeling of hopelessness. I'm on a raft without a rudder and I know the inevitable lies ahead, but I'm still paddling against the current.

Mach,

As always you and your daughter are in my prayers. I wish I could offer you something besides my belief that all things God works for the good of those who love him, who have been called according to his purpose.

Having seen my brother bury a child I know things like that can taste like bitter disregard. But I hope you understand my heart in sharing it with you.

Your daughter has enriched your life. The gift of giving love to a child is something many people will never have.

Mach - i dont want to pretend i know what its like to go through what you are. Really sorry to hear of that, and I am praying for you.

One thing that you might find encouraging is the below story by my pastor, Lon Solomon, whose daughter has had seizures since she was a kid, which has severely damaged her neurological activity. Lon’s story is probably a lot different from what youre experiencing, but I think that the lessons hes learned are valuable for anyone -

“I am convinced that Jill is in my life and our family's life because God put her there just the way she is. “ I think there is a lot of wisdom in this story.

http://www.mcleanbible.org/media_player....eID=158704

Mach... We all sometimes forget the 'personalities' behind these avatars. It is god that we are sometimes reminded of the real lives that people have to live. Even when we argue about healthcare, there is no way I'd want your daughter (or your family) to suffer as a result of it.

Thanks for the reminder to keep you all in my prayers.

(11-19-2014 11:33 AM)Machiavelli Wrote:  https://gma.yahoo.com/ucla-researchers-a...lness.html

This is the disease my daughter has. We were excited when this breakthrough was announced and my wife and I were waiting to hear back from the Dr. who is mentioned in the GMA story. We actually received his email last night. My daughter has deletions in the TCC7a protein carried on the 2nd chromosome. It's an extremely rare condition. Like 30 cases in Montreal in the last 30 years. The breakthrough he addressed with scids is more common but even then he has treated 18 cases in California for the whole year. Dr. Kohn was really nice even to take time out of his busy day to explain to us how the procedure works and why it wouldn't work for my daughter. They have to work on restriction enzymes for years that cut the protein in the exact spot on the chromosome where they want it cut. They have to glue back the repaired gene with a tested ligase. He told us this particular gene therapy took him decades to perfect and with it being so rare it was very very hard to generate the funding even for his cases. He was not aware of anybody working on my daughters protein deficiency. It just absolutely broke my wife. We have dealt with so much over the years and then to hear this. It was so painful for me to see her have so much hope. Then the cold reality that was ultimately laid in front of us. This treatment is not for you.

I'm telling you if you looked at my daughter you would see a healthy vibrant child. Her brain function and intelligence is off the charts. She just doesn't have any intestines and lives in a bubble. It just breaks my heart. I just can't shake this feeling of hopelessness. I'm on a raft without a rudder and I know the inevitable lies ahead, but I'm still paddling against the current.

Hey Buddy..Hang in there.

My 7 year old son has a significant brain injury from a car accident and cannot speak.
There are times when I despair and feel my son will be institutionalized. There are nights I stay awake wondering who will care for him when I am dead and gone.

Then something comes along to give me hope. My son spelled his own name for the 1st time yesterday. I cannot tell you how happy that made me.

Never give up hope.

I had a great aunt that I was very close too. She was very elderly and had buried her husband, her only son, and her only grandson. They had all preceeded her in death. Yet, she used to tell me. "I don't know how to explain it, but everything always turns out the way it is supposed to." I can not tell you how many times her words have soothed my troubled mind.

Never give up hope.

Mach and Bull sorry to hear this about your kids. Certainly puts life into perspective. Best wishes to you and your family.

Mach, so sorry the miracle your daughter and family needs isn't yet forthcoming. A parent's love for their child is maybe the most powerful emotion we have and both you and your wife are obviously heartbroken that your hopes have been dashed.

I'll say a prayer for your little girl and your family - it's not much consolation. God will help give you the strength you need.

Just love her every day for all you are worth.

Thanks for sharing that No Bull. I have no idea why we are tested the way we are. It would be so much easier to stomach if it didn't happen to somebody so innocent.

On a side note. My daughter has to get an IVIG every two weeks and because she is immuno compromised her transfusion happens in the pediatric cancer wing where they have elite standards of care and cleanliness. This is the wing where they are prepped for Bone Marrow Transplants. So every two weeks I have to go through a hall where I am watching 2-17 year old kids get chemo therapy. At first I dreaded it but then I got to the point where I would look forward to it. These kids whose lives have been dealt the crappiest of hands smile, joke, laugh. PLAY!!! I'm always amazed when I get out of there. These kids live life. Whenever you see a co worker who is having a miserable day and then they in turn try to make your day miserable. I think of these kids. I don't have problems. These kids give me the perfect model on how to live life.

Mach and No Bull, you and your children and your families are in my prayers.

I'm so sorry that you and they have to go through this. They are very blessed to have you.

Mach, very sorry to hear this, but glad I was give the occasion to read about your little girl. You've alluded to this in the past, but this truly puts things in perspective. I can only offer a quiet prayer and confess to my lack of understanding how or why we/you, all are tested in this way. Except that it is all part of something larger than each of us individually. Not to make this about me, but I've only got this as perspective. I am currently in the "process" of losing my Mother. It is a slow, painful descent into confusion, paranoia and basically hallucinations. Dementia.

She has lived a pretty great life, traveled the world, lived to see her 3 boys all grow up and enjoyed time with her grandkids. What makes it more painful is that she's aware of what's going on. But it's what we do- offer our comfort, lend a hand, take care of them, and that which only a parent or child of an adult can do- we're there for them.

I wish you, your daughter, wife and any other family members all the best, and though we all spar and rib around here on occasion, as you say perspective is key. Sometimes we get it whether it's welcome or not. Hang in there.