Welcome to Allison's Web Page. It has been provided to keep people updated about our Child. Allison has a Genetic Disorder called Mucopolysaccharidosis(MPS)1. For her treatment, we chose an Enzyme Replacement Therapy (ERT) called Aldurazyme. Allison gets a synthetic version of the enzyme she is missing by I.V. Her infusions last about 4 hours and are done weekly. Sundays are her usual infusion days! She will have these infusions every week for life or until there is a better treatment.
Journal
Sunday, August 10, 2008 1:39 PM CDT
We Are HOME!
Well ~ It was a long week! We started Tuesday with Developmental testing ~ Good news there, Allison is still doing great! There are some areas that she has gone down in, but those have to do with fine motor testing. Overall, Allison is still testing out at an age appropriate level! Dr Shapiro and Dr Bjoraker are still perplexed by Miss Allison and are unsure why she has not regressed :? I for one am very happy that they are confused :lol:
Next we saw Pulmonology : Good news there too. I love hearing the word STABLE !
ENT: Dr Rimmel felt like taking out her Tonsils and Adenoids was too big of a risk with not enough benefit to justify the risk. I was very happy that he was so matter of fact with us about this! He said with most children, doing a T&A would help with the sinus and ear infections, but for MPS kids, there were too many that had major complications, some deaths resulting from airway issues, and not much benefit. Many have continued to have the same ear and sinus issues after the T&A because of the MPS build up in their sinus cavities and ear canals. So, Dr Rimmel is going to make a few recomedations in his write up of our appointment, He wanted to see how the sinus CT and the placement of new "T" tubes in her ears went before he made concrete recomendations. We also did a hearing test, and it looks like her hearing is a little bit worse :frown:
Neurology: STABLE! Yeah! Allison looks pretty good again from the neurologist view. We did ask about why Allison has been walking on her toes so much lately, and he felt that it is NOT due to spinal cord compression, so that is wonderful news! Dr. Charnas feels there may be an orthopedic reason for her toe walking, but it is NOT neurological!
Wednesday: Allison started with Opthalmology: Allison's vision was STABLE at 20/50 in each eye. Pretty good! Her degree of corneal clouding is also STABLE! While Allison was under on Friday, Dr. Bothun did another eye test to check for Papaladima (SP?) and found no sign of it! Her optic nerves look great, no pressure!
Next she did a CT scan of her sinus. Alli was a trooper and held fairly still during the CT scan. She pretended she was a statue! :D
EKG/Echo/Cardiology ~ Allison's heart walls have DECREASED in thickness again!! When Allison started ERT her heart walls were 9mm in thickness, last year we were at 6mm and this year...5mm YEAH! incredible! I understand that 5mm is in the upper end of "normal" :bounce:
Wednesday night we got to have a little fun! We had a little BBQ with Terri & Jenny Klein and Terri's friend Mike! It was so nice to get a chance to have some down time with another family! :thankyou We had a wonderful time, and loved hanging out with you guys!
Thursday ~ We saw Dr. Schwender for Orthopedics. Allison's spine looks great. Her kyphosis and scoliosis are stable, and very very mild. Dr. Schwender feels like she should not have spine issues in the near future :bounce: On the down side, I thought that Dr Schwender still did hips, BUT he does not! He did recomend a Dr in Minneapolis who does, but that Dr was out of town, so we did not get any help with the questions we have about her hips....
Thursday we were able to meet Erica, Terri & Jenny Klein, and Karen(from Genzyme) for lunch! We ended up staying a couple of hours and making Erica late for her next appointment! :lol: Sorry Erica ~ But it was FUN!
Now Friday is where the Not so good things happen.... We took Allison to the hospital for her sedated tests. The anethesiologist came in, and it was NOT the one that we had requested. I asked him a few questions and was not very confident. We NEEDED to have a Cardiac Anethesiologist, and he was NOT. I called Allison's Cardiologist, and she came down and got a different Anethesiologist ( a cardiac anethesiologist) to work with Allison. We were delayed by the fuss I caused and running late...Oh well..making friends that morning was not high on my list of things to do :roll: I made sure that the new Anethesiologist read the notes from last years intubation and understood that he needed to use fiberoptics and an LMA...I explained all of the issues that Allison has and made sure he understood how careful he must be... I know he thought I was a nut and that I had no business telling him how to handle a patient...BUT I doubt he thinks I am crazy now. Anyway. I went in with Allison and stayed until she was sleeping. I left making sure that they knew to call me in the waiting room AS SOON AS she was intubated. I went to the surgical waiting room and sat....it took 30minutes before a phone call came, I was about going crazy! Then the nurse on the phone told me that they were still trying to get her intubated! They had not been able to secure an airway after a half an hour, but they were still trying. OMG I was so scared! :cry: It took another half an hour after that phone call before they called again to say that they had finally been able to get her intubated! That was HORRIBLE! The tests went fine, and she got new ear tubes. I will hear about the MRI sometime this week. Allison came out of anesthesia OK, but is wheezing terribly. I know that her throat must be raw, and she is complaining about a sore throat, but it sounds like the wheezing is lower.. Anyone have experience with this? Last year Allison wheezed the day after she was put under for her testing, but not like this. We are using an albuterol inhaler every four hours, but it does not seem to help much. If anyone has some insight on this, I would love to hear it! I plan on taking her to her pediatrician tomorrow morning to make sure there is not something other than irritation and swelling going on...
There is the update folks, now I am going to try to destress for the next week. I am so glad that Allison's annual appointments are done, and I don't have to worry about this again for another year!
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