Thursday, September 29, 2011

Finding A Way & The Intense Pain

I received a call today from Zachary's doctor. She has informed me that she did indeed get in touch with John's Hopkins about doing the angiogram there and discovered that the cost is $18,000 more there than it is here. She also got in touch with St. Jude and they told her that generally they do not do diagnostic work. She also wanted to know if I'd be interested in talking to a ?patient advocate? She kind of explained, but, do I need a patient advocate? Are we going to be spending that much time in the hospital?
Zachary has been complaining of an upset stomach, light headache and leg pain. I’m thinking he played pretty hard at Cub Scouts and he may have caught a little bug or something from school. I gave him 1/2 a benadryl and put his TENS unit on, with ice. He just told me that he has been using the ice packs every night since Monday to help ease the pain during the night.
I am going to track Zachary very closely to see how he does without Physical Therapy. His physical Therapist, his neurologist and myself feel that at this time there isn’t much change in Zachary’s mobility and want to see if there is any change without the PT ... “trial run”, Z and I will go in once a week to see how he is doing as far as measurements go.

Monday, September 19, 2011

A Fast for Zachary

I just wanted to let all my friends and family know that we are asking if you all would do us a favor and fast for Zachary, Sunday the 25th of September as he will be going in for a spinal angiogram which is a pretty invasive test with a 50% success rate. We have already asked our church members and close friends here to join us in this fast and would love to invite others to do the same.
Zachary has been diagnosed with Superficial Siderosis, he is the only reported child to have it. In short he has a leakage of blood and we are in hopes that they will be able to find the leak and correct it. We are also praying that he will regain the mobility he once had.
In advance we thank all who join us in praying and fasting for our son.

Thursday, September 15, 2011

Meeting Dr. Singer

Zachary and I went to our appointment with Dr. Singer and Dr. Jordan joined us, thank Heaven’s, cause Dr. Singer was talking way over my head. Some of the stuff he was saying I only understood because I did my research, lol. Thank goodness for Dr. Jordan and her ability to bring things down to a level I could understand. We are going ahead with the Angiogram, it has a 50% success rate, pretty risky, but we really want to find this “leak” I'm assured that there is another test that can be done if this one is unsuccessful. I can not remember the name of it tho ... I will have to ask Dr. Jordan about it when I see her again. I also forgot to ask her about the neurodegenerative condition. I wanted to know if the condition (the way he walks, the stiffness in his back) that Zachary is currently in right now ... is it reversible? Dr. Jordan also mentioned that a study was done from 19?? to 2006 of SS and there were only 200 known cases that had any literature written on them. She also mentioned N. Kumar I can’t remember if he did this study or if he was the one that wrote several articles on SS
Names to remember and research: Michael Levy, Rafael Llinas, and N. Kumar
Questions for Dr. Jordan
You mentioned another test that could be done if the angiogram is unsuccessful what was it again? CT Milogram
I read that SS is a neurodegenerative condition. Is Zachary’s immobility part of this degenerative condition? I mean is the way that Zachary walks and the stiffness in his back reversible? Or is this the degenerative that they are talking about? Will this get worse? These are very good questions, and to be honest I can only say I don't know, there aren't any other cases that we can base Zachary's case on, we are hopeful that the leak will be found and Zachary will regain his mobility, but we aren't able to say what his prognosis will be.

Wednesday, September 14, 2011

Walking Strangely


Zachary is walking quiet a bit differently today. 




Zachary seems to be twisting more and scuffing his feet to the ground more, also seems to be having a little more trouble climbing the stairs, almost like he squats to climb up. I’m very concerned about him and will contact his Physical Therapist and his neurologist today. 
Spoke with Zachary’s Physical therapist this morning and explained to her the tightening Zachary was complaining about and she thinks that it may be neural tension not muscular and recommended I contact his neurologist.
Called Dr. Jordan’s office and left a message for her to let her know of the changes that are occurring in Zachary’s ability to walk and the tension or pulling that he is experiencing. Also video taped Zachary on my phone this morning to show how he is walking.
Contacted Medical Records at Texas Children’s Hospital to have Zachary’s medical records (832 822 4280) forwarded to me. 
Access online at texaschildrenshospital.org
Patient Information 
fax number 831 825 9056


I seem to be having issues with getting a hold of Zachary's medical records from Texas Children's Hospital
Spoke with a friend from my DWA class who has a mother that goes to Johns Hopkins to see a neurologist there. She is forwarding me information on a Superficial Siderosis Specialty Clinic there. 



Here's the info from JHH website

Superficial Siderosis Clinic
Superficial siderosis (SS) is a neurodegenerative condition caused by chronic hemosiderin deposition in the brain and spinal cord.
This rare disorder presents with hearing loss, balance problems, and difficulty walking. If you have a diagnosis of superficial siderosis, you need to be seen by a specialist to find the source of bleeding and potential therapies to stop the bleeding and reverse the damage.
To make an appointment, please call our medical office coordinator at 410-614-1522, option 3.
To reach Dr Levy directly, email him at nmo@jhmi.edu or call 443-287-4412.
Ongoing Clinical Research Studies:
Deferiprone in SS. Testing the safety and efficacy of a lipid-soluble iron chelator. 90-day trial. Recruitment of 10 patients for this pilot study has been met. We are not recruiting any more patients. Start date: Spring 2010. End date: Fall 2010.
Future Clinical Research Studies:
Deferiprone in SS, expanded. Based on the preliminary success of deferiprone in our pilot study, we are planning an expanded study to include more patients and use the drug for 1 year. Expected start date: Summer 2011.
Dr. Michael Levy at Johns Hopkins he runs the Superficial Siderosis Specialty Clinic
Appointment Line: 410 614 1522
Direct Line: 443 287 4412
Left a message on his voicemail, letting him know that I'm interested in finding out more about this disorder and seeing if there is anyone who can help Zachary, I also let him know that I have been told that my son is the only child known to have this disorder and that he is experiencing mobility issues in his back and legs. 

I did receive a call back from Dr. Jordan she simply said that yes she is sure that it is neural tension related to superficial siderosis and says that doing the physical therapy may help loosen things. What we are doing for pain is what we can do there isn’t any other therapy.

Zachary went to Physical Therapy today. When I picked him up from school he seemed to be walking a little better. After Physical Therapy he seemed to be closer to his normal walk. His physical Therapist found that his calves were pretty tight did some work on them and did some exercises with Z to help loosen things up. Z seemed a lot happier after his visit today. Also his PT recommended that we use the TENS on his calves to see if that would help with any pain that Z might be experiencing. 




From: Michelle Huguley <mhuguley@bellsouth.net>
Date: Thu, 15 Sep 2011 07:08:15 -0500
To: <nmo@jhmi.edu>
Subject: A Child with Superficial Siderosis

Dr. Levy,

Hi, my name is Michelle Huguley and I am trying to find ways to help  
my son Zachary, he is 9 years old and has been diagnosed with  
Superficial Siderosis. He has mobility issues in his lower back  
causing pain and tightness in his legs. I have attached his medical  
records and his Medical journal in hopes that you would be willing to  
go over them and help me to help my son. I have been told that he is  
the only known child case with this disorder and I am interested in  
finding out all that I can about this disorder and how it may affect  
my son. His immobility concerns me because he still has a lot of  
growing to do and with the neural tension he is experiencing I am  
concerned that he will lose his ability to walk.

With Gratitude,
Michelle Huguley

Hi Ms Huguley,

I know your son's case well. Dr Jordan contacted me several weeks ago about him and we have been corresponding ever since. I know about the pain in his back with stretching, the pain in knees, the spinal tap and MRI results and I've discussed my thoughts on all of these issues with Dr Jordan. Your son's case is complicated but you are in good hands at Vanderbilt. 

Superficial siderosis is an extremely rare condition. There are no more than 50 diagnosed cases in the US and Zachary is the only kid I know of with it. My second youngest patient is 19 in South Africa. The reason it's not found in kids is because it takes a long time to develop. Likely, the symptoms Zachary has in his back now are not due to the superficial siderosis but rather to the inflammation associated with bleeding into the spinal fluid, which is also the underlying cause of the superficial siderosis. I expressed to Dr Jordan the importance of finding the source of bleeding and stopping it as the best possible solution to both the current symptoms and the long term superficial siderosis. Dr Jordan and I are friends from our time together at Hopkins so she knows she (and you) are always welcome to ask for advice on your son's case.

Michael Levy

Tuesday, September 13, 2011

Pulling

Zachary came to me after school complaining that something felt like it was pulling in his legs. I gave him Benadryl to relax his muscles and put the TENS unit on him. 

Monday, September 12, 2011

A Trip to Vanderbilt

Over the past week or so Z has had minimal pain he occasionally has had to use his TENS unit I would say maybe twice in a week or so. Today when I went to pick him up for Physical Therapy he was in some pretty bad pain and wanted the TENS unit put on I picked Z up from school around 2:45 and his PT starts at 3:30. Once we got to PT his therapist noticed that he was looking tired, showed concern and then asked him if his eyes were hurting him and he said that his left eye was bothering him. She went to test his neurological function by having him track her finger, she noticed that one eye wasn’t tracking properly and went to contact Dr. Jordan to see if it was something we should be concerned about. While we were waiting Z started complaining of his stomach and his head hurting. His therapist then checked for fever, there was none. She was able to get a hold of the answering service for Dr. Jordan, they said they would call back at my number, as we were leaving Z experienced a sharp pain down the front of his left leg (from his knee to his foot) we went back to see what his therapist thought and she felt that with this disorder being one that is very rare and that Z is the only child known with it that it would be wise to go on to the emergency room for observation, just to be sure everything is okay. So away we went to Vanderbilt Children’s hospital while in route Zachary's muscles started to tighten up in his arms and legs 



he was able to speak and let us know that he was in some pretty intense pain. This lasted about 10 minutes including the time it took for his hands and feet to relax and go back to normal, we arrived at about 7:00 checked in and were taken back to a room around 8:00. Zachary seemed to be relaxing and only complained about his eye, head and stomach. Then a pediatrician came in and I explained to her all that had occurred through the day, then she did some basic exams and went to consult with the attending. She came back and informed us that they wanted a neurologist to come in and check Z, then another doctor came in and did another neurological exam, she says Z seems to be tracking just fine. We continued to wait for the neurologist. At about 9:30 one of Dr. Jordan’s colleagues came in to check on Z he also checked Z’s neurological functions and said that everything looked fine and said that if there were cause he would push for the angiogram tonight but Z looks good. He also said that if Z was having trouble tracking he would still be having some trouble with it. Something like that doesn’t just go away it usually takes weeks or even months to return to normal. I drove our son to Vanderbilt because I was scared, my biggest fears are that his sight or hearing will be jeopardized because of this disorder. I will do everything in my power to be sure Z gets the proper care that he needs. I’m aware that this disorder is very rare and that Zachary is the literature being written, and there's no comfort in this at all.

Thursday, September 1, 2011

Understanding the Disorder

12:15 Robert, Zachary and myself went down to Vanderbilt Children’s Hospital today by request of Dr. Jordan to meet and talk with Dr. Singer who is a neurosurgeon who specializes in blood vessels to the head and spine. We met with Dr. Jordan first and she examined Zachary and talk to us a little bit about Z’s condition. From what I understand she said that the brain and the spinal cord are surrounded by the Dura Mater, which is the tough fibrous membrane that envelops the brain and spinal cord. Within this space there are traces of 


old and new blood. The goal is to find out where the new blood is coming from and try to stop whatever it is that is causing the leak. Once that is done the body should be able to reabsorb the old and the new blood and hopefully the blood surrounding the nerves which seems to be causing the nerves to “stick together”. The blood surrounding the nerves is what’s affecting Z’s mobility to his back and his legs. So? we didn’t really get any new news, just a little better understanding of what’s going on within Z’s little body. While we were at Vanderbilt Robert and I decided we would get copies of all of Z’s medical records so that we could add it to his medical journal. My hope is to be able to help someone else, maybe another child who has this disorder, maybe an adult who has it, or even a doctor. We didn’t get to meet with Dr. Singer at all today, unfortunately there was a scheduling muff up at his office, they’re rescheduling the appointment 2 weeks from today. Seriously? Can I just hang my bucket of nerves and concerns out to dry. I’m tired of carrying them.
Z attends Physical Therapy three times a week, as far as mobility he has had very little, to no change. Measurements are about the same, however things are stable and not getting worse.