# Storage Disease



## Kim P (Feb 16, 2015)

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.


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## Riverrose28 (Feb 18, 2015)

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


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## Kim P (Feb 19, 2015)

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.


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## Riverrose28 (Feb 20, 2015)

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


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## Kim P (Feb 20, 2015)

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.


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## Riverrose28 (Feb 20, 2015)

so adorable.


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## paintponylvr (Feb 21, 2015)

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!!


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## Kim P (Feb 21, 2015)

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.


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## lkblazin (Feb 21, 2015)

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.


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## 7fluffyfriends (Feb 23, 2015)

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.........


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## Ryan Johnson (Feb 23, 2015)

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


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## Kim P (Feb 23, 2015)

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


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## paintponylvr (Feb 25, 2015)

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~!


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## Kim P (Feb 25, 2015)

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!


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## chandab (Feb 25, 2015)

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.


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## Kim P (Mar 13, 2015)

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!


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## Kim P (Mar 19, 2015)

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.


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## KLM (Mar 19, 2015)

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


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## Marsha Cassada (Mar 19, 2015)

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


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## lkblazin (Mar 20, 2015)

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


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## REO (Mar 20, 2015)

{{{{Prayers}}}}


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## Kim P (Mar 23, 2015)

Wonderful news. We went back to the specialist today. He brought in a genetics specialist. They think that she has moriou syndrome. I did not spell that right. I am leaning toward maroteaux lamy. They sent off for about 15 test on her blood. Should have those results in a couple of weeks. They have referred us to the Shriners Hospital for her hips. That is about it! We just wait for new appointments and results. God is good!


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## paintponylvr (Mar 25, 2015)




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## Kim P (Apr 7, 2015)

More good news. We have an appointment at Shriners on the 10th. I am a member of another forum for people with conditions like Bayley. Just so happened that a lady on there was from my area and knew the doctors I was talking about. She is a nurse. She emailed a retired doctor who specialized in this field and helped diagnose her grandson! He is willing to help us with Bayley! I am elated!


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## lkblazin (Apr 8, 2015)

Great news Kim!!! I'm very happy for you. Im tearing up, litteraly. I hope he can give you a definate answer and add more good news.


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## Kim P (Apr 9, 2015)

Me too, Rebecca! It was really odd getting a personal email from a specialist whom is well known and retired. I feel like we are knocking down concrete barricades and taking shortcuts to win the first place prize of a diagnoses ,first time flying! The right doctors just give you such a piece of mind. Even if we still have to do more testing for other things. At least they know what to look for and where!


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## lkblazin (Apr 9, 2015)

perfectly said kim


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## Kim P (Apr 10, 2015)

Well we are at Shriners. Hopefully I will have something good to post later. At least a correct diagnosis .


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## Kim P (Apr 11, 2015)

We met two new drs. We have to go back for a MRI. They made a mold of feet for a set of braces that we will get in about 3 weeks. Her ankles roll. Saw an X-ray of her hips. That was not good. She has such a small ball(I could not even see it) that is why she has hip problems. We get to see the specialist in June. He writes books about this. They use his books! They say he is the best! I am so thankful for the lady who talked to him and asked him to help us. I left feeling really good!


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## AnnaC (Apr 11, 2015)

Have only just read this Kim, but want to say that I will be saying prayers for your sweet Bayley, the family and the Doctors who are going to do all they can to help her.


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## Kim P (Apr 20, 2015)

Dr. Called. She does not have Morquio. I feel like it is SED, Kniest, or maroteaux. I did not think she had that anyway.


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