Storage Disease

[Kim P]

Has anyone heard of this disease? My son has a baby with a girl who brought 2 precious little girls with her into their relationship. They are the only ones who call me Memaw. I love it! I have been pushing for them to get the oldest to a specialist to get a diagnosis. You can look at her and tell she has some medical issues. Blood work came back today and dr called and said they he thinks they are on the right path and said she has storage disease. Going back for urine sample this week. I have been on the internet all day looking this stuff up.

 

[Riverrose28]

I have not heard of this but I'll ask my duaghter if she has, she works for a doctor.

 

[Kim P]

I just found out that the doctor told them that she had one of the worst kinds of the disease. That most die before they turn 17. If they survive they are usually in a wheel chair. I will just take that info with a grain of salt. We will give this over to our mighty God and he will decide what it is going to be. I will be going to the next doctor appointment with them.

 

[Riverrose28]

Daughter works for an gastro doc. she never heard of it. Sorry, sending prayers

 

[Kim P]

Thank you Riverrose. It is a rare disease. This is our little Bayley. This was last Easter. She picked her dress out. She is 8 years old.

 

[Riverrose28]

so adorable.

 

[paintponylvr]

You have a beautiful granddaughter!!

I'm sorry to hear, I've never heard of this disease. Let us know how it goes.

Prayers and cyber hugs for your family!!

 

[Kim P]

Thanks Paula. Just found out that the specialist who diagnosed her does not specialize In this. He is going to refer her to another specialist. To me that is good bc there is so much about this disease. It is bad but maybe it is not as bad as he thinks it is. It is going to be a long road finding all the right doctors and I am sure that there will be surgeries to try to correct some things. I have joined a couple of groups who have this so we are going to be getting some first hand information and guidance. I just hope that they get the exact one the first time. Found a doctor that specializes but can't take anymore patients. He is willing to consult with other specialist. There is going to be some traveling. Some of these doctors are not close. I have just jumped the gun. As soon as we get with a specialist I have all kinds of stuff to run by him, including the names and phone numbers of these other doctors. I am rambling on again. Thanks again for the prayers.

 

[lkblazin]

I hope everything goes well and you find a good doctor. I have never heard of this disease. Your family will be in my thoughts. Please keep us updated.

 

[7fluffyfriends]

Prayers and hugs from one grandmother to another. Your granddaughter is beautiful.

A friend has a verse she sings sometimes..........He hasn't brought me this far to leave me now.............

It is hard to step into the unknown but He is always there ahead of us.........

 

[Ryan Johnson]

Hope everything works out and that you find all the answers you need , will be thinking and praying for you

 

[Kim P]

Thanks guys! We really need prayers. Bayley needs to be lifted high. I know prayer works.

 

[paintponylvr]

Kim - please let us know what is going on with your granddaughter as you find out. We all can offer support too, even if we haven't experienced this same thing (a type of support group,

).

I did some reading up and was amazed at all the "new" diseases (first "storage" type disorder was diagnosed in 1881 - if im reading info correctly - WOW). Some interesting BUT very heavy reading. Didn't know before what I think I'm grasping now. There appear to be many variants - none of the well known ones (that I read about so far) would appear to be what your granddaughter has simply because she's older than the ages that are indicated where I was studying. OOPS, that may be depressing. Sorry. It did help me to understand another families issues with their daughter (I sold them a pony a few years ago - how I met them)... There wasn't as much info (and I didn't know how to search for it) on the internet then as there is now.

Just know that we are here to give a listen to you. Take care of yourself, too!! Can't have you "fallen apart" girlie~!

 

[Kim P]

Yes Paula, there are so many and it is rare. I too studied them. iPad in one hand and phone in other looking up words that I have never heard! You are right, Bayley has made it past some of those really bad ones. I feel a lot better. I joined a group that is for SED and other related diseases. I had originally searched a while back looking for answers, thinking that it was some sort of dwarfism. I had joined one group, when I told them what dr recently said, I was invited to join another group. They are giving me lots of info. I think I am on the right path. Several told me that they were originally diagnosed with storage and given glum outlooks and then finally diagnosed with SED. It is still not good and there are different types of that too. I have met several people who are living fine. May have to have a few surgeries in life. Mostly hips. I am keeping a positive outlook. I will keep everyone informed. Weather has been bad so they have not got out of the house with kids. Going to try and go tomorrow to give urine. Then we will have to wait for results. Then go back for another appointment. I am going to go to next appointment with them. I am going to be ready and loaded with questions. I also have names of drs who specialize in SED, GSD and I need to get to a dr who specializes in skeletal dysphasia. I am going to help the drs. Find the right ones to refer us to. He has already said that he does not specialize in this and is going to have to refer us to someone else. It is a lot Paula. My vocabulary is definitely going to expand. Thanks again Paula. It seems like I don't get out much now a days. I spend most of my time just with my family. I am beginning to think the only friends I talk to are on this forum and the new one about Bayley! Lol. Thanks again!

 

[chandab]

Kim, I don't get out much either, but then I'm 40 miles from the closest town, and 65 miles from the town we usually shop in. Most of my friends are on-line and a few are in that town 65 miles from here. My mom is in the closer town, but I don't really have any friends there, maybe a few acquaintances. Will be headed to the further town tomorrow to pick up some stuff; stuff for the grain trucks, a walk-thru gate for my panels and a few other things. Next week, I have lunch with Mom and get a haircut.

Hope you can get your questions answered with your next few appointments.

 

[Kim P]

We got results back from test. Dr said that she does not have storage disease. That is great. We have to get to a dr who specializes in skeletal dysplasia. I really feel like she probably has a form of SED. Which is fine, may have to do some surgeries on her hips or something. We can give this dr a little more time. I think that we just need to get to the Shriners Hospital soon though. I think she is going to be just fine. Just going to be a little person! Thanks for the prayers!

 

[Kim P]

Doctor called back yesterday. We have an appointment to discuss Bayley with a new dr tha he is bringing in. He said the results are inconclusive. So guess what, I am armed and ready. I have the questions and information all together.

 

[KLM]

Prayers for your beautiful granddaughter. Shriners are fabulous if you end up with them!

 

[Marsha Cassada]

A list of questions is good! At first, we never know what questions to ask.

 

[lkblazin]

I hope get more answers soon. Thank goodness she does not have storage disease , and you are one step closer