A Tough Day for Z ...

I'd like to call this one of my most difficult and heartbreaking days. Today we sat our son down and explained the ins and outs of Superficial Siderosis. We explained what was going on in his tiny little body, what exactly it was that was causing his hearing loss and what the future holds for him. I've had to go through and do a lot of hard things but I can not think of anything that comes even close to this. As we sat and talked and discussed these things I could see him trying hard to hold back the tears. I watched as they welled up in his eyes. When the conversation was done and his questions were all answered. We hugged it out and he went off to do his chores. I went down shortly after him and noticed he had taken his clean basket of clothes into his room. When I opened his door he sat knelt over the basket with his head in his clothes crying. I went in sat closely next to him and just held him for a while. Then I told him how special he really is. I told him that his Father in Heaven loves him and is always with him. I told him that He never brings him to something without bringing him through it. And I reminded him that he has family and friends who are all pulling for him and praying for him. He just wept, it absolutely broke my heart. 
I'm thankful for the love of our Father, who knows our strengths and our weaknesses. He knows what we can and can not handle. I felt His warm embrace as I sat there with His son in my arms crying at the reality of his disease. HE LOVES US and is ALWAYS WITH US and for this I am truly grateful.

The Sound is Back

Today is the day Zachary gets fitted with hearing aids his appointment is at 9:00. Dr. Smith is letting us use a trial pair for a little while. 

The Audiologist appointment went ... well, I won't say great as great would mean there would be no bad news. We took the donated hearing aids to the doctor to see if they could be used but unfortunately they are to powerful for Z right now and could damage the hearing he has left. The doctor advised we hold onto them as Z might could use them at a later date. We also found out that Zachary's hearing has gotten worse. The right ear more so than the left. 

We are very grateful that hearing aids will still be helpful to Zachary, however, we are concerned that his hearing will continue to decline.

A moment I never want to forget, the moment when he hears himself breath, priceless!

I took a video of Z clicking his tongue, very cute, but can not get it to load.

All the clicking and tapping continued all the way home. He played with his jacket zipper, tapped on a football, scuffed his feet across the floor, waved his hand about, knocked on doors and objects, even threw things in the air and hand smacked them. He is amazed at all the different sounds he has missed. We aren't sure when his hearing started to go away we only know when it started to affect us here at home (Sept). Zachary's teachers haven't noticed anything and his grades haven't changed at all. He is a very smart child to be able to keep up, even though his hearing was falling behind.

We are so blessed! 

Zachary has been given a pair of loaner hearing aids to try out for a little while. 

Even though our trip to the Audiologist came with some good news there was sad news to be reported as well. We found out that the hearing in his right ear has taken a plummet to the bottom of the hearing chart and that change occurred in only a mere 7 weeks. But watching our son hear himself breath for the first time was priceless. We are so grateful that Zachary is able to hear with the aids. What an amazing blessing that is. 

I'm learning that with every trial there are blessings that follow, maybe not the kind of blessings we would ultimately hope for, but blessings they are and I'll take what He is willing to give.

I called the school today and spoke with the guidance counselor about setting up the FM System for Zachary at school. Left him the Audiologists number so that they could get together and set up the FM System for Zachary. I also let him know that Zachary would be in school tomorrow with hearing aids on. 

An Answered Question

I wrote Dave Hill (runs the SS support group) a letter to get an idea of how quickly the loss of hearing goes. 

Well Dave,

I'm not just any other American, lol. I've got a lot going on with this fundraiser for Z and an interview this week with a local paper to express my concern that Superficial Siderosis is under diagnosed and I want to bring awareness to it so that more research can be done to find a cure.
When I spoke to Z's Audiologist she had never heard of it and spent 15 minutes researching while we waited to be called to the back for our appointment. She mentioned that there are a lot of children who are going deaf without any explanation. I believe SS could be one of the reasons.

The only thing I have right now is Z's online fundraising efforts which is located on his blogspot.

I do have a question tho ... I know that once hearing loss starts it goes fairly quickly. Do we have an estimated amount of time from start of hearing loss to complete hearing loss? Are there any of the members who might could share their experiences with us? 

Yes, it used to be said in medical SS write-ups that SS was not a child's thing but I think one day they'll clearly change their sayings.

If  I asked your question to Dr. Levy I know clearly he would say everyone is vastly  different, and we sure are. I can't even remember now how quickly I went down to minus  zero as my CI audiologist said I went to. My estimates are though it would be only a few months. Look back in early versions of newsletters for an accurate account from me.
Dave

I called the Audiologist in Goodlettsville and asked about testing Z again. She said that typically they don't test this quickly, right after testing, but I expressed my concern so they will be performing another test. I'm feeling like the Cochlears are going to be a part of Z's life a whole faster than we thought.

I try to make everything alright in my head, but this all stinks!! The feelings a person gets when she loses something precious is still there. Z is such a trooper and I thank my lucky stars that he is as laid back as he is. I feel like I'm having all the emotions of loss for him. My baby is quickly losing his ability to hear my voice.

Sharing Big News

Hey there, Dave!

We hope that you are doing well and are keeping your spirits up. I wanted to give you an update on Zachary, as you already know he is now in dire need of hearing aids. Our family is large and the medical bills are mounting pretty high so I am putting together a fundraiser for Z, so that he can receive the hearing aids he needs. There is a link on Zachary’s blog spot, http://hug-z.blogspot.com. I already have a possible 3 interviews set up (they aren’t confirmed yet) with the local media and I will be sharing as much information as I can about Superficial Siderosis. The big news is that ... I'm planning to open up a foundation for Superficial Siderosis to bring awareness to a disease that I feel is very much under diagnosed. So if the funds over exceed the goal amount the extra will be applied to helping others with Superficial Siderosis and toward research to find a cure. As soon as Z is all set with his hearing aids I will be focusing my time and energy toward that.
Z is doing very well, he’s just happy that there is no pain affiliated with losing his hearing. Our family is taking an American Sign Language class together to prepare Z for the future of possibly needing the skill.

We pray that a cure will come very soon and this can be a disease of the past.

Michelle

You are doing marvellously well Michelle with great ambitions. Other Americans have claimed to be starting up similar but they never seemed to do so. If you have more details please send them on as I'll pen up something for the next newsletter.

Well done that lady

Dave

Dr. Levy Clears Things Up

Hi Ms. Huguley,

The spinal fluid is made deep in the brain and circulates around the brain and spinal cord, as you said correctly, and then ultimately gets resorbed into the veins at the top of the skull. The total volume of spinal fluid is turned over 3 times every day so you can imagine the circulation is fairly brisk. That's why a bleed anywhere in the spinal fluid leads to exposure of the whole nervous system to the blood. As the blood breaks down, the blood iron products precipitate out and eventually settle down by gravity to the back of the head while sleeping and to the bottom of the spinal cord while awake. The reason hearing is affected is because the nerve that goes from the ear to the brain spends the majority of its time in the spinal fluid. All other nerves that come directly off the brain have < 1 mm of surface exposed to the spinal fluid. So the nerve to the ear is vulnerable to blood products circulating in the spinal fluid. Since that nerve has a large surface area relative to the volume of the nerve, a large percentage of the nerve is exposed to the iron. That's why hearing is usually the first symptom of superficial siderosis. 

Michael Levy, MD, PhD
Assistant Professor, Johns Hopkins University
Director, Neuromyelitis Optica Clinic
1800 E. Orleans St.
Pathology 509
Baltimore, MD 21287
443-287-4412 phone
888-523-4168 fax

What is Superficial Siderosis? And a Letter to Dr. Jordan & Dr. Levy

This information is located earlier in this blog, I'm adding it again for those of you just visiting this page. It's a real quick overview of what Z has and what possible side effects he will endure in the future. 

What is Superficial Siderosis

Superficial siderosis (SS) of the central nervous system is a rare brain disorder resulting from chronic, and repeated, slow haemorrhaging into the subarachnoid space, and if accurate international figures were obtainable, would most certainly prove to be evenly spread amongst all nations around the world – the small country of New Zealand does appear to have more than its fair share of diagnosed survivors however. People diagnosed with SS range in age from just a couple of years old, right through to their 80s, though the most common age bracket is the 50s and 60s.

Despite being known for over 100 years, it is only in the past few years that SS has been widely acknowledged and studied. Previously known by several titles it was only in 1985 a definite title was applied to the disease. The disease is unusual in that it carries so many side-effects that a sufferer may experience. The symptoms are still being discovered, but currently number over 30, only some of which are common to all, or most, known survivors of the disease.

Prior to the introduction of MRI machines, diagnosis of the disease was carried out on the autopsy table.

Side effects and symptoms

• The most common side effect is the lack of hearing, with 95% of those affected. What hearing may be retained, if any, is generally of no value. The hearing does deteriorate extremely quickly with SS and hearing aids provide only short term assistance. Cochlear implants currently appear to be the only permanent life buoy for this side effect.
• Ataxia (lack of balance) and loss of co-ordination are the next most common and frustrating side-effects for those diagnosed. Around 85% of all cases are affected with these two debilitating side effects. Mobility aids, such as walking poles or canes, wheeled walking frames, and wheelchairs provide valuable assistance. Many with the ailment advance to a stage where they are bedridden.
• Bowel and bladder complications are also commonly accepted complaints.
• Side effects vary right down to only two known cases of the 8th cranial nerve being covered in hemosiderin, stopping the survivor from feeling any pain in their teeth.

Known SS symptoms

• lack of hearing
• imbalance
• poor co-ordination
• early dementia
• bladder complications
• bowel complications
• headaches
• migraines
• severe tiredness
• short term memory loss
• loss of smell
• loss of taste
• muscle cramps
• double vision and other vision complications
• cranial nerve palsies
• imaginary pains, smells, tastes and sounds
• permanently bed bound
• failure of the senses
• one pupil larger than the other
• double sciatica
• mini strokes
• seizures
• speech difficulty
• nystagmus
• numbness and pain in parts of the body, especially feet
• swallowing difficulties
• failure to feel pain in the teeth
• ‘Parkinsons’ type leg and hand wobbles
• inability to control emotions – anger, sorrow, etc.
• intolerance and uncertainty to heat and cold; may feel roasting hot, but are actually cold
• failure of sexual organs – inability to arouse an erection, or no feeling of satisfaction for females

Understanding How SS Affects the Hearing

I wanted to be able to understand more about how SS affects hearing so I wrote a letter to Dr. Jordan & Dr. Levy to get their expertise on the subject. 

Dr. Jordan and Dr. Levy

I’m sorry to be such a burden. I just want to be sure I'm understanding the CNS and the CSF flow correctly. I’m seriously trying my best to understand all of this. Just when I think I’ve got it, I don’t.
I understand that iron is being deposited on Zachary’s spinal cord. What I don’t understand is how does that affect his hearing? I guess I’m confused by the details of Superficial Siderosis and it's affects on the hearing. How does the iron affect his hearing? I want to know exactly how SS affects the hearing. Does it destroy the inner ear somehow? I don’t understand this part of it and because this seems to be the reason for Z’s hearing loss I’d really like to know more about how SS wreaks it’s havoc on this part of the body.
I would be most grateful if you could help me to understand. I’m all about researching and if there are reliable places for me to do this that you can send me to, I’d be greatly appreciative. I would really like to be as educated, as a mother who has a child with SS can be.

I'm trying to understand the flow of the Cerebrospinal Fluid ... Is it true that it is produced in the center of the brain and then travels to the ventricles then down the spinal cord and back? I just want to be sure I understand that it does go down the central canal of the spinal cord and then back up again to the brain, which means it must pick up some of that deposited blood/iron at the base of Z's spine and it drags it back to the brain, right?

Thank you so much for your time
Michelle Huguley