E
ericaj
Hi All,
It has been so hectic lately that all I have had a chance to do is skim the forum and keep all of you in my thoguhts - which you have been!! Between getting my diagnosis last month and classes and getting things set up, arranged, appts. made, appts to go too, and studying life has been hectic and
unfortunately stressful!!
But we all know that right?!
I guess since I got the dx last month (mucopolysaccharidoses type 1 scheie syndrome) I have been on automatic or so it seems. Between having MRI's and Hearing tests and Eye exams and Rheumatology appt (29thMarch) and coordinating with my zillion Drs and seeing my Lung Dr (doing on on that front)
and seeing my Cardio (ok there, repeat Echo, Stress tests, EKG's, and Lab work this summer) seeing my Geneticist and my Genetics Counselor and talking to my Caseworker out at Genzyme to get things set for the ERT (enzyme replacement by infusion) treatment going and approved by my Insurance and of course studying hard for classes too in there.
The dx is a multi system complex storage disorder involving the Alpha-L-Iduronodase gene (in the case of my dx a lack of this gene) which is important for breaking down storage material in the joints, (arthritis, CTS), nerves, Lungs. Heart, Spleen and Liver) the ERT will act as a substitite for the
mutation I am lacking and is given weekly by infusion (5-7hrs a crack) at the
local Children's hosp. the infusion of Aldurazyme will break down the abnormal storage and may improve some of my symptoms and probably slow the progressin of atleast the joint stiffness and Lung disease. The rest of organs not sure yet - as this drug has been on the market for only 2 years and MPS 1 is so rare. (About 1 in 500,000 peoploe will be affected)
The cost just for the Aldurazyme (the drug) alone is $15,000 per treatment (weekly, every week rest of my life) and this doesnt include the actual clinic visit or outpt. care given during infusion. Thankfully my Ins. will pay 100% on the outpt. part and my Drug plan will cover the Aldurazyme at a $5 co-pay once a month - will is really really amazing I am told and a good plan!! - don't know what i'd do without it. - That will be starting in hte next week to 2 weeks not exactly sure yet.
Have been feeling pretty moody lately, somedays just very emotional and frustrated, some days I think I can handle it and alot of the time very tired, and achy and sore and any other word you can think of for in pain. (probably arthritis - due to disease)
Classes are going well, I decided to just stick with 3 for this semester as there is so much else going on that I am trying to cope with and to deal with. I do enjoy the time away to be in class though a distraction. Am also looking into SSI/Disability - actually my Social Worker is.
I will try to post another update soon, all of you con't to be in my thoguhts.
Love and Hugs,
Erica
It has been so hectic lately that all I have had a chance to do is skim the forum and keep all of you in my thoguhts - which you have been!! Between getting my diagnosis last month and classes and getting things set up, arranged, appts. made, appts to go too, and studying life has been hectic and
unfortunately stressful!!
But we all know that right?!I guess since I got the dx last month (mucopolysaccharidoses type 1 scheie syndrome) I have been on automatic or so it seems. Between having MRI's and Hearing tests and Eye exams and Rheumatology appt (29thMarch) and coordinating with my zillion Drs and seeing my Lung Dr (doing on on that front)
and seeing my Cardio (ok there, repeat Echo, Stress tests, EKG's, and Lab work this summer) seeing my Geneticist and my Genetics Counselor and talking to my Caseworker out at Genzyme to get things set for the ERT (enzyme replacement by infusion) treatment going and approved by my Insurance and of course studying hard for classes too in there.
The dx is a multi system complex storage disorder involving the Alpha-L-Iduronodase gene (in the case of my dx a lack of this gene) which is important for breaking down storage material in the joints, (arthritis, CTS), nerves, Lungs. Heart, Spleen and Liver) the ERT will act as a substitite for the
mutation I am lacking and is given weekly by infusion (5-7hrs a crack) at the
local Children's hosp. the infusion of Aldurazyme will break down the abnormal storage and may improve some of my symptoms and probably slow the progressin of atleast the joint stiffness and Lung disease. The rest of organs not sure yet - as this drug has been on the market for only 2 years and MPS 1 is so rare. (About 1 in 500,000 peoploe will be affected)
The cost just for the Aldurazyme (the drug) alone is $15,000 per treatment (weekly, every week rest of my life) and this doesnt include the actual clinic visit or outpt. care given during infusion. Thankfully my Ins. will pay 100% on the outpt. part and my Drug plan will cover the Aldurazyme at a $5 co-pay once a month - will is really really amazing I am told and a good plan!! - don't know what i'd do without it. - That will be starting in hte next week to 2 weeks not exactly sure yet.
Have been feeling pretty moody lately, somedays just very emotional and frustrated, some days I think I can handle it and alot of the time very tired, and achy and sore and any other word you can think of for in pain. (probably arthritis - due to disease)
Classes are going well, I decided to just stick with 3 for this semester as there is so much else going on that I am trying to cope with and to deal with. I do enjoy the time away to be in class though a distraction. Am also looking into SSI/Disability - actually my Social Worker is.
I will try to post another update soon, all of you con't to be in my thoguhts.
Love and Hugs,
Erica
