Sunday, April 24, 2016

Possible Diagnosis and Updates

Kreed has been in the hospital, for the most part since February. He first presented with an inability to walk. Followed by a seizure. Followed by more raging and screaming, no sleeping and a slew of other issues. Kreed's breathing began to be affected and doctor's couldn't figure out why. We finally got a resident to think outside the box and he slowly but surely put together the specialists and got them to talk to each other. Ultimately it was decided Kreed's issues were caused from pain, which we agreed with. He was in immense, unrelenting pain. Kreed has been screaming for months in pain. It's been heart breaking to witness and be a part of. His body is constantly hurting, with activity making it worse and he's going hypoxic as a result.
Neurology came to do a larger work up and determined he most likely has Small Fiber Neuropathy along with his larger neuropathy. The small fiber neuropathy is far more painful and affects so much of the autonomic system. What they don't know is WHY he has small fiber neuropathy. It can be congenital or acquired. If it's acquired and they can find why, he will go back on IVIG. If it's congenital then it means it will continue to progress and he will continue to lose function and we are left with only controlling his symptoms and pain.

At this point in time, pain management is the focus of treatment while they work on finding the cause and can do more targeted treatment. Kreed's pain management is compounded by the vast allergies he has and adverse reactions to many. We have trialed activist for two days and both days he raged in pain. Last night in particular, we let him go around on a scooter and take a walk downstairs. Within 30 minutes of our adventure, he was in horrific pain for the next hour and a half until he got a rescue medication. He finally fell asleep in the early hours of the morning exhausted from pain and activity.
I can write all of the above and not shed a tear. But the reality is our life will never be the same. Kreed's life will never be the same. He could end up in a wheelchair for the majority of the time due to his extreme pain when walking, if they can't control it. They could find the cause and then we will have multiple IV treatments a month and hope it stops the progression. Most agree however, that Kreed's days of carefree hopping are over. We have to be vigilant over his activity levels and always be prepared for pain breakthroughs. Kreed is now a patient of chronic pain. Most normal adults have difficulty with ongoing pain and this has happened to our 18 year old active boy who doesn't understand that activity causes him massive pain. I'm trying to figure out how I can possibly explain this to him. Once he isn't in as much pain, I'm hoping we can resume home schooling and our first subject will be about the body.

Most of all, I told the doctors, we have to save his hands. He cannot lose feelings in his hands because that is how he talks. I will move heaven and earth at that point to make sure he doesn't lose his ability to use his hands to talk. Our life has become a nightmare of hospitals, doctors and pain. Our sweet boy suffers so much and it's not fair. I envisioned an active life with Kreed with many hours of hiking in Colorado and so many other activities.
I will post more later. For now, Kreed has small fiber neruopathy and they are trying to find the cause and decide on a treatment. In the meantime, at this time, Kreed cannot be active without causing himself unrelenting pain. It is unknown how long we will be in the hospital, but I would imagine another week at the minimum.

15 comments:

  1. I can't believe how similar he is to my son. He has many of the same issues and we too saw a neurololgist for small fiber neuropathy a couple of years ago due to stomach pain triggering many tonic clonic seizures. We still have gotten little answers here. I agree with the IVIG. That is the next step I am looking into as well as there are really so few solutions. Have you ever looked into chelation through a DAN doctor? Wondering if the metal overload sitting there is also causing issues. Pleased keep us all posted. I feel so bad for him and all kids going through this horrific pain and these regressions.

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  2. Also, will they determine that it is congenital as opposed to acquired if nothing shows on their testing? Can I also ask if the pain is less if he just sits all day? Does the pain only happen during or after physical activity or is it constant? My son can barely move his legs if he sits for too long so it's a catch 22. Not that it helps (I know!) but please know there are people out here who get the nightmare of all of this.

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  3. Omg...I cannot begin to imagine what it has been like for you and your family and Kreed. I can only offer my support and prayers. God bless all of you! You are in my prayers...

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  4. My goodness. No words, just hope. 💖

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  5. This truly breaks my heart. Having a diagnosis, one the one hand, is somewhat of a relief, it cannot be comforting in it's long term meaning. I pray for Gods intervention and guidance for you AND his medical staff.

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  6. I am NO DOCTOR...but the first comment by anonymous...at first I thought, yeah, right...I'm kind of a cynic...but then I thought of my son's godfather who died of hemachromatosis. They thought he was an alcoholic, and his liver was failing him. Turns out, the alcohol eased the pain and he had a genetic inability to rid his body of iron that was slowly poisoning him. His children had genetic workups done, luckily none of them inherited it. This is a very complicated world.

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  7. Heartbroken for your family♡ Promise my prayers.

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  8. praying for you and your family. From someone who walks a very similar walk.

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  9. @using...fyi a lot of kids on the spectrum have heavy metal overload, not iron overload which is what you are talking about. Not sure what you're so cynical about. Unless you know extensively about Biomed, vaccine damage, etc. try not to be cynical.

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  10. I am so sorry to read this, and in awe of your strength, even though you probably don't feel very strong right now. No matter where the diagnosis lands on the spectrum, we all have to be the advocates for our children, and I hope you can take some comfort from knowing that there is a sisterhood of autism moms out here who ache for you. And families who know how tough it is for all of you. Hugs to you, the family, and especially to Kreed.

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  11. Oh, Erin. I'm so, so sorry. I don't even know what to say. I'm sorry. Sharing your status to raise awareness. Prayers sent your way.

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  12. I sorry you have to go through this hope it gets better soon.

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  13. I am also not a doctor, but I read alot. I'm sure you have heard it all and know more than anyone, including the doctors, but what about his thyroid? Would removing it not perhaps help stop the small fiber neuropathy damage from progressing? Just a thought. Thinking of you two every single day xxx.

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  14. Hi Erin:

    Has the hospital looked closely enough at his Mitochondrial issues? If they think this may be driving the breathing issues Dr. Mark Korson is the best in the industry regarding Mito. I am assuming Kreed has been on all the various Mito. supplements/coctails over the years but maybe Dr. Korson, or someone else, can look deeper at this if that is the problem. I realize he has several separate issues but the Mito. may be the reason behind the breathing instability.

    "Abnormalities in breathing patterns are described in advanced mitochondrial disease (Flaherty, 2001; O'Brien 1998; Piper, 1994). The development of such patterns is gradual and intermittent and may initially appear during periods of increased oxidative stress (e.g., infections, following significant exercise, or during significant emotional distress), resolving as the patient recovers. The patterns may become more permanent as the disease progresses.

    Significant fatigue can affect the respiratory muscles in the chest wall and diaphragm (Flaherty, 2001). This can result in tachypnea and/or a subjective inability to catch one's breath, associated with discomfort or anxiety. A drop in oxygen saturation may occur. The voice can change becoming hoarse in character. Rest and/or sleep usually help alleviate these symptoms. In more advanced disease, the symptoms can become permanent.

    Disordered breathing during sleep including obstructive apnea is not an uncommon feature for patients with significant muscle weakness or fatigue or hypotonia. This can result in snoring, mouth-breathing, restlessness during sleep, a lack of feeling refreshed upon waking, and/or daytime somnolence. Aside from muscle fatigue (chest wall or upper airway), other contributing factors can include aspiration or impaired ventilatory control mechanisms due to brainstem involvement by the primary disease process (O'Brien, 1998).

    Early signs of respiratory failure in the form of central hypoventilation are often seen at night during rapid eye movement (REM) sleep in individuals with neuromuscular disorders. The resultant hypoxemia contributes to depression of the respiratory drive and difficulty with arousability (Piper, 1994).

    Tachypnea and/or dyspnea can occur with cardiac disease or active gastroesophageal reflux.

    Weakened trunk muscles put these patients at high risk for pneumonia and its complications. With severe respiratory infections, patients may require weeks to recover to their baseline levels of function. In addition, chronic hypoventilation may lead to pulmonary hypertension and right-sided heart failure (Chinnery, 1997).

    Patients whose phenotype includes significant biochemical abnormalities, particularly during periods of acute decompensation (as with intercurrent infections or seizures), may show tachypnea as a physiologic response to metabolic acidosis or hyperammonemia. In these cases, one would expect to see associated acid-base abnormalities. A primary metabolic acidosis can be associated with a secondary respiratory alkalosis; significant hyperammonemia can be associated with a primary respiratory alkalosis and secondary metabolic acidosis. Note that respiratory muscle weakness is more likely to be associated with primary respiratory acidosis and secondary metabolic alkalosis."

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  15. I'm so sorry for your loss. You are a great mother. You gave your son everything you could give. I could hear the pain in your writing as the days you spent in the hospital, desperate for answers, increased. Few can understand such frustration and fear. I'm sorry doctors couldn't figure out what to do for your son. I'm sorry you had to stand by and feel so helpless. Your son is blessed to have you as his mother. There, by his side, always fighting. He will not be forgotten. Hugs from San Diego from another autism mama.

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