Prayers for my nephew...

nooshinjohn

His name is Luca, and he was born a week before my son. He was born with a very rare condition called PKU. It is an in incurable genetic disorder that interferes with his body's ability to process proteins. The nasty part of this is that without a very restrictive diet for his entire life, cognitive development and muscle control issues will develop that lead to severe mental and psychological issues that could have a profound effect on his life. No child should have to go through life with issues like this.

Asking that you guys keep him in your thoughts and prayers. My wife is heartbroken for her sister while she is quickly becoming the amazing mother I knew she would be....

daddyjt

Damn... I'm sorry to hear of this. He will be in our thoughts and prayers.

gmcman

Wow, definitely sad...prayers for the little guy and the family and friends.

tonyb

Absolutely John, pains me to see a youngster start out with a crap sandwich like that. Any alternative therapy stuff they can try, stem cell ....anything ? Before permanent damage takes hold ?

mrbigbluelight

Prayers, John, for relief for your nephew and continued success for your son.

boston1450

Thoughts & prayers sent to Luca & parents & family. God Bless you all

vmaxer

Praying for him John.

nooshinjohn

The only tool they have in the box for this condition is a single drug therapy and a diet so restrictive that a would not last a day on. Can't even eat a peanut, much less any kind of meat. If they get him on it, he can have a normal life without the damage the proteins would cause. Protein intake would come from a dietary supplement free of the types of protein his body cannot process. Timing of this diet is critical and must begin by the end of the first month or long term damage will occur.

I knew nothing of this disease until a week ago... never heard of it. Now it's something that scares me. My son was tested for this at birth as well. I am thinking of having him tested again if this runs in my wife's family.

txcoastal1

Yikes John prayers out to the lil' guy.

Jimbo18

Very sorry, John. I hope the diet and therapy work. Perhaps the restrictive diet won't be as bad for someone that never knows what they are missing.

Legender

Sorry to hear about this John. No family, baby should have to endure this. Prayers offered.

nooshinjohn

Jimbo18 wrote: »

Very sorry, John. I hope the diet and therapy work. Perhaps the restrictive diet won't be as bad for someone that never knows what they are missing.

Hard not to know when you can smell baby back ribs a mile away. They have another doctor visit at City of Hope to figure out a treatment plan for him. Hopefully it will be one of the easier forms of this disease. I am curious as to why PKU is not something more widely known. My wife and I had never heard of it until a week ago, and she is a clinical pharmacist.

littlewoodboats

Come Sunday I will light an candle for the little guy and pray for the best possible outcome.

mhardy6647

PKU (phenylketonuria) is one of those congenital (hereditary) diseases that has awful consequences -- but is, thankfully, easy to diagnose. All newborns are tested for it (at least in the US), because (to the best of my understanding) if it is caught in the earliest stages of life, it can be pretty much ameliorated by diet -- not to trivialize the disease, nor the cure, but I think that in most cases in 'the modern era', the prognosis is usually fairly good.

That said, it's got to be tough on the whole family, and our prayers will include them (you) all.

mrbigbluelight

Doc Hardy may have some knowledge (seriously) of this condition. A while back, he shared some info on blood clotting factor that spoke of Protein C having an effect on the clotting cascade sequence.
Not to say that he/anyone knows everything about medical conditions influenced by proteins, but you never know.

mhardy6647

PKU is one of those things that "everyone" (who takes biochemistry) learns about in the first semester, when he or she studys biosynthesis of amino acids. PKU, as it was taught to folks like me, is one of those big 20th Century public health success stories -- but I don't know anyone with PKU, so I don't know how it actually plays out for a patient.

http://www.babysfirsttest.org/newborn-screening/conditions/classic-phenylketonuria-pku

voltz

Thought & Prayers for the young one.

mrbigbluelight

A link from Mr Hardy's link looks rather interesting and encouraging:

https://npkua.org/

kharp1

Prayers and best wishes sent your way.

dkfreebird

Prayers sent your way.

steveinaz

Prayers little buddy that the therapies work for you.

Mike Reeter

Wishing only the very best for your nephew and his family.

nooshinjohn

The power of prayer always amazes me and today is one of those days. The diagnosis of PKU for my nephew has been based on blood work only at this point, and after the initial panel was run, there have been two conflicting tests. We are still waiting on DNA to come back, but today's trip to City of Hope shows that those conflicting tests were drawn under conditions that would naturally result in false positives.

They still are standing by the original PKU diagnosis, but are backing away from it being the classic form of the disease. If anything, it appears he has the rarest form, which is benign and requires only monitoring until he reaches 8 to 10 years of age.

You guys are an amazing group, and I am humbly honored to be a part of this forum. My deepest thanks!

lightman1

Boooyaaaa!! Great news, John!

vmaxer

Awesome news John.

Continued prayers.

mhardy6647

Statistically, it's not uncommon for diagnostic tests are designed to give false positives in preference to false negatives; this approach ensures that a rare but serious condition (like PKU) will get caught by the test. It's better to do two tests (we're not talking about the cost, now! ) than to miss a diagnosis of something serious with a false negative result from a test.

Jimbo18

Great news, John.

tonyb

nooshinjohn wrote: »

The power of prayer always amazes me and today is one of those days. The diagnosis of PKU for my nephew has been based on blood work only at this point, and after the initial panel was run, there have been two conflicting tests. We are still waiting on DNA to come back, but today's trip to City of Hope shows that those conflicting tests were drawn under conditions that would naturally result in false positives.

They still are standing by the original PKU diagnosis, but are backing away from it being the classic form of the disease. If anything, it appears he has the rarest form, which is benign and requires only monitoring until he reaches 8 to 10 years of age.

You guys are an amazing group, and I am humbly honored to be a part of this forum. My deepest thanks!

Great news John, a level of hope anyway. Is there any type of gene therapy available for this condition ?

[Deleted User]

My mother is terminally ill, so I know how you must feel. I will include Luca in my prayers. Stay strong brother.

nooshinjohn

My mom's cancer is advancing as well. I will keep the prayers going for your mom as well.

txcoastal1

nooshinjohn wrote: »

My mom's cancer is advancing as well. I will keep the prayers going for your mom as well.

Will she get a chance to see her new grand babies?