Background Color:
 
Background Pattern:
Reset
Community Forums
Still Undiagnosed.
Last Post 19 Dec 2013 04:40 PM by Retta Beery. 11 Replies.
Printer Friendly
  •  
  •  
  •  
  •  
  •  
Sort:
PrevPrev NextNext
You are not authorized to post a reply.
Author Messages
Marla TobiaUser is Offline
New Member
New Member
Posts:5


--
22 May 2009 07:35 AM
    I have a 3 year-old daughter, Laura. She was first diagnosed with severe colic, then benign hypotonia, then reflux, then sleep myoclonis, then CP. Cognitively she is completely on track, but her body is far behind. A family friend told my mother about your Mystery Diagnosis episode and my mother begged me to investigate it. I'm a nurse practitioner and was a little skeptical about something someone saw on TV. Reluctantly I researched it and was completely shocked that those with DRD so much
    Retta BeeryUser is Offline
    Basic Member
    Basic Member
    Posts:112


    --
    22 May 2009 11:40 PM
    <P>I'm so sorry for all that you are having to go through and for little Laura.&nbsp; Noah and Alexis had severe colic, hypotonia &amp; hypertonia in different parts of their bodies, reflux, sleep disorders we could never figure out...j
    Marla TobiaUser is Offline
    New Member
    New Member
    Posts:5


    --
    27 May 2009 06:38 PM
    Sorry it has taken me so long to get back to you. I tried to post a couple days ago and it disappeared before I got to submit it. Anyway, Here goes. After Cincinnati Children's recommended trying her on sinemet our doctors agreed. She was started
    Retta BeeryUser is Offline
    Basic Member
    Basic Member
    Posts:112


    --
    29 May 2009 07:08 PM
    <P>Hi Marla,</P> <P>From all that we have been through, read and shared, it seems like they increased her dosage too fast.&nbsp; When the brain receives too much dopamine, too fast, your body can have "chorea" type mo
    Marla TobiaUser is Offline
    New Member
    New Member
    Posts:5


    --
    07 Jun 2009 07:42 PM
    Laura has a neurology appointment this week.&nbsp; I'm going to ask if maybe we should decrease the dose.&nbsp; She is so tired after taking each pill, but her tremors improve.&nbsp; Her speech is getting better every day.&nbsp; She v
    Retta BeeryUser is Offline
    Basic Member
    Basic Member
    Posts:112


    --
    10 Jun 2009 12:05 AM
    <P>I'll be praying for you, Marla, for discernment and wisdom in knowing how to proceed with Laura.&nbsp; Please let me know how her appointment goes.</P> <P>Retta</P>
    Marla TobiaUser is Offline
    New Member
    New Member
    Posts:5


    --
    12 Jun 2012 04:10 PM
    It's been several years since I last contacted you. I saw you today on The Doctors and just wanted to give you an update and ask a couple questions. We finally went to Dr. John Shoffner in Atlanta and had a full work up done. No Dopa Responsive Dystonia. It appears she has a mitochondrial disorder, specifically oxydative phosphorylation deficiency complexes I and III. Her mitochondrial DNA was normal so they assume is is in the nuclear DNA. Dr. Shoffner said there were about 1200 genes that affect the function of the mitochondria and we are still looking for the gene. Wondering if you think I should have gene mapping done? Laura is doing well. She gets tons of therapy and is progressing. Seeing the videos of your children still struck me. Her symptoms are so very similar. She has dystonia, but sinemet didn't help. We give her Clonapin to help relax her, especially at night. She gets worse as she is falling asleep. She is walking now, but not with a normal gait. She is still hypotonic, but with lots of therapy has been improving. Thank goodness there are no cognitive delays. She is our little miracle. Just don't know if there might be something else I can do to help her. This is such a new area of medicine most of the doctors don't know what to do either. Good luck with everything. Your family is an inspiration to me. Thanks again.

    Marla Tobia
    Retta BeeryUser is Offline
    Basic Member
    Basic Member
    Posts:112


    --
    22 Jun 2012 08:23 AM
    Dear Maria,
    It's great to hear from you and get an update. I'm sorry to hear about the Mitochondrial diagnosis. We will be praying for more answers and for a treatment to come soon. I can introduce you to some doctors/scientists that are currently doing gene mapping, if you would like to get more information. My email address is: Retta.beery@me.com.

    In the meantime, please know we are praying for your family.
    Warmest regards,
    Retta
    Ellie's momUser is Offline
    New Member
    New Member


    --
    22 Jun 2012 04:03 PM
    Hi Marla:

    I'm so sorry to hear about your struggle to help your daughter. I personally know how frustrating that is.

    My four year old daughter has a mitochondrial disease called Leukodystrophy LBSL that affects her brain and spinal cord. She takes a "mito-cocktail" prescribed by Johns Hopkins and is responding very well. Many doctors don't know anything about mitochondiral disease. There only a handful in the country who understand and treats it. If you haven't done so already, you may want to call the people at the United Mitochondrial Disease Foundation (UMDF). They are very nice and may be able to connect with some doctors that may be able to help.

    We were told there was no hope for our daughter and no treatment, but the people at Hopkins and many of the people they work with at UMDF have a much different view of rare neurological disorders. There is always hope!

    I'm praying for you and your daughter.

    UMDF: http://www.umdf.org/site/c.8qKOJ0Mv...0/Home.htm

    Beth
    Ellie's mom


    Ellie's momUser is Offline
    New Member
    New Member


    --
    22 Jun 2012 04:14 PM
    Marla - please feel free to email me off offline if you ever have any questions bfrigola@hotmail.com
    Marla TobiaUser is Offline
    New Member
    New Member
    Posts:5


    --
    18 Dec 2013 11:04 PM
    Well, I haven't been on here in a while. Finally received our genome sequencing from Baylor. Laura has a spontaneous mutation of the ADCY5 gene (the same as Lilly Grossman). My husband and I had lunch with Lilly's father this week. We're very excited that they have finally pinpointed it and they are definitely researching this particular gene. Because this is so rare, we are currently being bombarded with information from doctors, organizations, and researchers who are interested in having Laura join their studies. It's extremely overwhelming, but such a blessing to know we are finally on the right path. Retta, I just wanted you to know you've really paved the way for our family. I originally contacted you when Laura was very young. I can't believe how much has changed in those years. I was introduced to your story by a family friend who thought your children had similar symptoms to mine. We contacted the physicians that you had gone to and it just took off from there. Last year I was just flipping through the channels and saw you once again on The Doctors and wondered if that might be something we should consider. Once again, I contacted the doctor, he reviewed Laura's chart and recommended we procede. Our results came back last week, we did a little research and found the Grossman family. By some of the strangest luck Steve was traveling to Tampa and we got to meet for lunch and compare notes. Our stories were so similar. At lunch Steve asked me if I had ever heard of your story. He told me your families spent Thanksgiving together. I'm blown away that this has come full circle right back to you. We will most likely be traveling to CA to meet with the researchers. I'm sure we will be getting together with the Grossmans. I would love to meet you too. Just wanted you to know how much I have appreciated your fight and how helpful you have been.

    Marla Tobia, ARNP
    Retta BeeryUser is Offline
    Basic Member
    Basic Member
    Posts:112


    --
    19 Dec 2013 04:40 PM
    Dear Maria,
    I am so thankful to hear from you! I'm so happy that they have found the exact mutation in Laura that is causing her challenges. Steve and Gay are a great resource and I'm so thankful you connected. Gay called me after hearing an NPR piece done on Noah and Alexis's sequencing and they were very interested in having Lilly sequenced. We were so thankful that Lilly's mutation was discovered as well after whole genome sequencing. I would love to meet you, your husband, and Laura when you are in town. Thank you for your encouragement and for reaching out. We will be praying for more therapies to be discovered for this mutation and for Laura and your family.
    Merry Christmas!
    Retta
    You are not authorized to post a reply.