Sunday, March 9, 2014

LITTLE BOY WONDER

When we first learned of Caden's brain injury we were devastated. When we were told he was at risk for developing cerebral palsy, we were heart broken.  But when we were told that cerebral palsy is non progressive and that Caden's abilities would not regress, we were relieved.  Matt and I believed that with dedication and hard work, Caden would develop and reach milestones, although at his own pace.

Caden's development was slow; much slower than anticipated.  His many hospitalizations and illnesses created set backs we were not anticipating. However, a year and a half ago, when Caden was two, we began to see some progress.  By age two and a half, Caden had good head control, was able to stand and sit for short periods of time, was taking a few steps with help and had an eight word vocabulary (car, bug, hug, go, again, etc.).  His physical therapist believed he would be walking with a gait trainer by age four.  We had hope.  We believed.

Caden is three and a half today and he can no longer hold his head up, sit, stand, take steps and can only say "yeah" and "hi".  He went from being very spastic, requiring Botox injections and medication to relax his muscles, to very floppy with little tone.  When we put him in the sitting position, he literally folds in half with his head between his feet.

Caden also once had a very strong personality.  If he didn't like something he would let you know by crying and screaming.  If we left him alone on the floor he would scream until we came to get him.  Now, he just lies there, motionless and unaffected.

This is not to say that he never expresses emotion but his emotions are erratic and without stimulation.  He will laugh for hours for no apparent reason and then suddenly start hysterically crying.  It's as if the wiring in his brain has gone haywire. Something is clearly wrong but no one, including doctors, know why.

This week in particular, Caden's physical and neurological well being has taken a nose dive.  Some medication changes have been made but none that would send him spinning out of control, yet on Friday Caden had over a hundred myoclonic jerks (sudden uncontrollable jerking motion that could indicate seizure activity).  This is more than he has ever had in one day, so his Neurologist at the Children's Hospital of Philadelphia (CHOP) did an emergency admission so that Caden could have an EEG done to check for seizures.  As with most tests and studies done on Caden, his EEG was normal.  Well, actually it was far from normal, but it did not show any seizures.  His EEG showed many irregularities.  His Neurologist wants to put him on seizure medication to see if it can help regulate some of his brain patterns.

Caden has also been vomiting more and has had an increase in intestinal and abdominal pain over the past month.  His G.I. wants to start him on Reglan which has many concerning side effects.  At this point, we have not started either medication because the Neurologist and G.I. doctor are arguing over which drug is more important to try first.

So here we are, settled in for another hospital stay (number eleven, I think).  Caden will be here through the week as they continue to try to figure out what is going on with him.  This is a game we have played for the past year and we don't expect an answer will come easy.  During this stay, doctors are looking in to the genetic possibilities, along with any neuromuscular or mitochondrial type disorder.  For the first time, doctors are agreeing with us that Caden has more than just cerebral palsy.



The plan for the week includes the following:

*Exome genetic testing (first one ever to be done at CHOP) which will check for any genetic defects or mutations.

*EMG (Electromyography) which will check for any muscular disorder.

*Salivagram which will check to see if he is producing too much saliva which is causing him to gag and vomit.

*Endoscopy which will check for any damage to his stomach and esophagus

*Shunt revision surgery where they will clamp his shunt to see if he improves neurologically due to his shunt possibly overdraining.

And of course a ton of lab work.

Caden's surgery is scheduled for Thursday and if all goes well (Caden has a history of making a short visit into a very long one) we will be home Friday.

I often ask anyone I come across (FedEx guy, pizza delivery guy, etc.) for any ideas as to what's going on with my son.  Doctors can not figure it out but who's to say a "regular" person can't be the hero who diagnoses my son.  Any information that anyone gives me, I investigate.  I know that a diagnoses does not mean a cure, but it is hard to manage his care and find support when we have no answers.  Here is a list of Caden's symptoms, both chronic and acute.  Please feel free to comment with any ideas and please share this post.  One of the reasons I started this blog was in hopes to find someone out there who would be willing to take a special interest in helping my son.

Caden's symptoms:

*Brainstem crowding
*Capillary fragility
*High blood pressure
*Vomiting
*Intestinal pain
*Constipation
*Swallowing issues
*Severe chronic hiccups
*Adducted thumbs
*Foot deformity
*Teeth grinding
*Excess body hair
*Barely moves or responds when upright but more vocal and active when laying flat or upside down
*Spontaneous laughter
*Very high pain tolerance
*Sleep disturbance
*Low tolerance of heat
*Increased sweating
*Has lost weight over past year (only 25 pounds, same as many one year olds)
*Has not grown in a year (34 1/2 inches, four inches shorter than his identical twin brother)


I am overjoyed by the amount of support we have received thus far.  I've had so many more page views than I had ever imagined.  Thank you for being a part of Caden's journey and coming along for the ride.







37 comments:

  1. Hello, My name is Amy Fields and reading your son's symptoms reminded me of my daughter and her symptoms. They have pretty much the same things going on. I would love to talk with you more about our kids and what our specialists have shared with us. You can find me on Facebook and I blog at Many Kinds of Families. Please feel free to contact me. I will be praying for your little one and you guys:).

    ReplyDelete
  2. Hi Jill,
    I'm so sorry for what Caden and you all are going through. I'm a pediatric nurse and have a few contacts with peds specialists, and I'm happy to run your list by them. I have a "zebra" illness and know how hard it was for me to get diagnosed, and I can only imagine how much more difficult it is when it's your child. I will email you and we can chat more, I had a couple of questions that I wanted to ask so I can make sure I forward this to the contacts I have. God bless you.

    ReplyDelete
    Replies
    1. Sorry for the very delayed response. I have to get better at that part of blogging. I appreciate your input and help and would appreciate any information you could give me. We are really looking for pediatric doctors who are familiar with Ehlers-Danlos, the connective tissue disorder Caden has. It seems there aren't too many pediatric doctors familiar with the syndrome because most symptoms don't present themselves until much later in life. Apparently Caden is the exception.

      Delete
  3. Hi Jill,
    Sorry I couldn't email you (for some reason I thought there was a link). Anyway, I think you're wise to ask for genetic testing, and they might want to consider metabolic testing as well as testing for mitochondrial disorders if they haven't yet done this. Some of your little man's issues may be due to his prematurity and CP (such as reflux,which can be quite common, esp. if he's not really upright as often). Have they tested for VLCFA (very long chain fatty acids) or adrenoleukodystrophy? I might also ask if a FISH test (type of genetic test) is also appropriate. I would see if CHOP would get the geneticist to consult (just to make sure all appropriate tests are done in one shot). I will share on my FB page also to see if anyone has input or specialist contacts. All the best to you and your little man

    ReplyDelete
    Replies
    1. CHOP did an exome study and rules out any type of muscular disorder. I looked into the others you have mentioned and some are possibilities. Caden's geneticist is out of Cincinnati Children's (we did not like the one's at CHOP). I think we may need to take another trip out there if we don't get any results from the exome study. Thanks for the ideas.

      Delete
  4. My prayer's ALWAYS for this little guy! <3 <3

    ReplyDelete
  5. Hi Jill. I remember seeing Caden at Children's Specialized Hospital in the OT/Pt gym. My child was finishing up OT as you came in with Caden. I often wondered how he was doing. I will pray for you and your family. I hope they find the answers you are looking for. I have a feeling by reading his symptoms that a geneticist would be able to get to the bottom of it even though it would take a while. God bless Caden and your family.

    ReplyDelete
    Replies
    1. Thank you. Caden has a very good geneticist out of Cincinnati Children's Hospital but we may end up going to see the best Ehlers-Danlos geneticist in the world. He's out of Chicago. I agree, a geneticist may be the best person to help us find answers.

      Delete
  6. May God bless Caden and his loving family.

    ReplyDelete
  7. since you are at CHOP, have you seen Dr. Marni Falk? http://www.umdf.org/site/c.8qKOJ0MvF7LUG/b.7981131/k.7960/Marni_Falk_MD.htm and http://www.chop.edu/doctors/falk-marni.html She specializes in mitochondrial disease.

    ReplyDelete
    Replies
    1. I believe Caden saw her last year when he was admitted and she did an assessment and based on that didn't feel he had a mito disease. There was no formal testing done however.

      Delete
  8. I am a mother of a 23 week premie... Texas and Tampa Florida have great children's hospitals.... god bless you and your family on you medical journey ...

    ReplyDelete
    Replies
    1. Thank you. 23 weeks....wow...God bless you!

      Delete
  9. Hi Jill, The McKusick Institute of Genetic Medicine at Johns Hopkins in Maryland has a wonderful pediatric genetics unit. Maybe they can help get you some answers. Thoughts and prayers are with you and your entire family.

    ReplyDelete
    Replies
    1. Thank you. John's Hopkins is on our list of possible go to places. It may be the next hospital we go to when Caden needs to be admitted as we seem to have exhausted all options at CHOP. A fresh set of eyes may be what my son needs.

      Delete
  10. Have they checked for lead poisoning? Many of the symptoms are the same and its much more common that most of the other stuff I'm reading in the thread.

    ReplyDelete
    Replies
    1. Interesting theory and you are the first to mention this but nothing around him contains led so it would almost seem impossible. Definitely worth looking into however. Thank you.

      Delete
  11. One cannot say enough for the importance of family and support in Caden’s life and in yours. You are doing so much. I can only imagine what you are going through. I am a pediatrician and came across your blog. Your plea for information gave me pause. He has been seen by a number of specialists at a number of renowned children’s hospitals. The one thing that stands out to me from your description is the regression of milestones which I am sure has not been missed. This is a unique and ominous feature if it persists. The geneticist will hopefully have more to talk to you about this. Some syndromes with regression of milestones are Rett syndrome (although almost exclusively seen in girls, and with rhythmic hand motions that he does not have), childhood disintegrative disorder (very rare with unknown cause, thus more descriptive than helpful), range of liposomal storage disorders (typically with visual issues although I am sure that some do not), arginase deficiency (characterized by more increasing in spasticity than loss of muscle tone), and alexander’s disease (can have large forehead, white matter disorder should be notable on MRI). As you can see from my comments on these syndromes there are issues that don’t necessarily fit for Caden’s presentation, and there may not be a definitive answer. Caden is Caden. As you and Caden move forward together take time for yourself, one another, and those special moments that come now and then.

    ReplyDelete
    Replies
    1. Thank you and many of the suggestions are one's I have looked into. The Rett syndrome one is interesting because someone mentioned FoxG1 which currently falls under Rett syndrome but affects boys as much as girls. I agree that he does not have the hand motions but according to the FoxG1 website he has every other symptom. I am hoping the exome study shows us something so we can have a better understanding as to what is going on. Thanks again for the information. I am writing everything down and looking into everything.

      Delete
  12. Hi Jill , its Alison from Smarty Pants, just want to tell you that we are all praying for answers and strength for you and your family. Anything you need please ask. Love to Caden and you from all of us

    ReplyDelete
  13. Hi Jill, We all just read your blog this morning. His school family loves and misses him. May God keep you all in the palm of His hand. xoxo

    ReplyDelete
  14. I pray that God is with Caden and will help you and your family with this struggle.

    ReplyDelete
  15. Mitochondrial disease, worth reading about

    ReplyDelete
    Replies
    1. I read about mitochondrial disease constantly. Somehow no matter what I look up it always seems to go back to mito. The mito doctor at CHOP doesn't seem to think so but we will wait and see what the gene study shows. Thank you.

      Delete
  16. Although Caden seems to be more medically involved than my little ones, he sure reminds me a lot of my little mystery boy. I have 2 children that have been diagnosed with unspecified Leukodystrophy, but even after entire genome sequencing, the doctors do not know why they have the symptoms that they do. Feel free to read their story here: http://bryceannalisesjourney.blogspot.com/2013/11/crashing-system.html Caden's symptoms also remind me a lot of my friend's son who had Alpers, which is a mitochondrial disease. I hope and pray that you will find answers for your little boy. The unknown is just so hard to deal with.

    ReplyDelete
    Replies
    1. I love your blog. You and your little ones are such inspirations to me. Thanks for sharing your story.

      Delete
  17. Have they checked his thyroid and pituitary glands? If they were both off they could cause and intensify a good portion of these symptoms. They also have a lot of influence on his sympathetic nervous system which would explain the blood pressure, hiccups, and stomach problems because they are all muscles we cannot actively control ourselves. I hope this helps.

    ReplyDelete
    Replies
    1. Yes. When Caden was in Cincinnati last year for a month they tested both the thyroid and pituitary gland and like every other test Caden has had done, they came back "normal". Thanks for the ideas.

      Delete
  18. Has anyone ruled out Batten's?

    ReplyDelete
  19. The laughing and crying episodes reminded me of an article I read,http://en.m.wikipedia.org/wiki/Pseudobulbar_affect

    ReplyDelete
  20. The laughing and crying episodes reminded me of an article I readhttp://en.m.wikipedia.org/wiki/Pseudobulbar_affect

    ReplyDelete
  21. Maybe he does not have cp. This article might help.

    https://www.yahoo.com/health/this-woman-spent-decades-unable-to-control-her-116948505828.html

    ReplyDelete