Storage Disease

[REO]

{{{{Prayers}}}}

 

[Kim P]

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!

 

[paintponylvr]

 

[Kim P]

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!

 

[lkblazin]

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.

 

[Kim P]

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!

 

[lkblazin]

perfectly said kim

 

[Kim P]

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

 

[Kim P]

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!

 

[AnnaC]

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.

 

[Kim P]

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