Mitochondrial Diseases Support Group

Hello everyone I am new to the group, I have three wonderful Children, and an awesome husband.. I thought to get to know you all I would post what I just wrote in my journal.. It ivolves our first born Caroline... And the strugle to get a diagnosis.... Until a few days ago, all I was ever told was developmentaly delayed.... We still have a long way to go... But at least we are finally geting real answers ! The following is my journal post dealing with Caroline and her Carntine Deficency.





To give everyone a peak into my world I thought I would write about why I am here my beloved little Linabell ( Caroline )... She is a happy7 year old, whom struggles to thrive not only in growth, but also mental abilities, and coordination. She loves to sing, dance and play princess. She hates to write, has trouble with memory, concentration, and is rather uncoordinated.
From the start Linabell has struggled and fought... For now what seems to be her life. She had severe reflux, doctors told me it was normal... Being my first child I thought o.k., She tended to get colicky, but know we know it was due to her Carnitine deficiency... Again being a knew mom, and my little Linabell being my first child I thought o.k. But around 16 mos she was non-verbal and could not walk.... They told me wait till she is 18 mos... That is when I started to fight for her, my gut instinct told me something was off. Finally at 2yrs.... She was still not talking, so I started speech therapy with her at home while waiting for referrals to finally go through. We started by simply making faces to strengthen her facial muscles. That helped a lot. Then finally a referral went through for speech... Caroline was 3 1/2 yrs old at this point... She went for roughly a year in a half. Basically she was dropped because it was an articulation problem... I fought to get a genetics appointment... First time I got the run around by a UN-QUALIFIED employee of Tri-care... In my blunt personal opinion, the woman was rude & I think boldly lied when I called to see if we had authorization. BUT as time grew I realized that most of the Commonwealth of Virgina was widely disorganized, except for two systems... Well-Fair.. And Lower Income housing... Unfortunately for us, those issues were not our problem. So Virginia was letting Caroline slide into the cracks. Finally at age 6 after 6 years of fighting a authorization got through to tricare for genetics.... It took e getting the doctor involved, but it happened.... So we began Tests.... FOR EVERYTHING you could think of... Although much to my dismay, the genetics doctor out there seemed more interested in Carolines short stature than really anything else... Well Scott got orders to Oregon in this time frame... We let Caroline stay out in VA with my Mother & Father to finish up the tests. And finally she finished up and Joined us in OR.... Well I hadn't heard anything from the genetics doctor as far as results... So naturally I started calling to see if any results had come back.... I was told by an ordinary office receptionist with no M.D. or even nursing degrees that "Caroline just has a slight vitamin deficiency" just be sure to give her Flintstones everyday. SO with that knowledge we saw her new PCM out here... AND the ball started rolling.... Carolines Doctors appointment with a genetics follow up is in June... But the SHOCKER that really frosted my rear was when Tri-Care West got a group called echo involved to make her an exceptional family member, they went through all diagnosis that they had in her files... And the so called slight vitamin deficiency was PRIMARY CARNITINE DEFICENCY.... WHAT the hell?.... The doctors in VA failed to tell me this.... Now after doing my own research I realize how potentially fatal this can be... Ad what really makes me angry is the fact that with screening as an infact and being put on L-Carnitine she could have had a developmentally normal life... I got the phone call 3 days ago from a case worker for Tri-Care whom found the actual diagnosis from the Genetics Doctor in VA... He right away notified me & Carolines PCM out here ! I am furious the doctors in Virginia failed my daughter... I could go on and on about how horrible that commonwealth is.... But instead I plan to focus my attention on helping my helpless daughter. Her Doctor out here is on the ball and I cannot praise her enough ! By just reading the papers that Tri-Care West faxed into her office and listening to what I told her the Nurse from Tri-west told me, she started Caroline on Oral Carnotor, and we are going back for a full genetic work up again on June 2nd. This time with a more knowledgeable doctor of genetics who will not treat Lineballs disorder as a "Fairytale Disease" because it is so rare.
My only hope for Linabell is that she does not further debilitate and thrives as well as she can.. And that my new cause for Linabell and those like here is to push for mandatory screening in all states, and furthering the education of Carnitine Deficiency I & II. The problem I see is that like some doctors in VA... They are blinded by they're own arrogance, and without parents that fight, as long and drawn out as it takes, it worry's me for the future of kids. NEVER take a "so/so diagnosis" Just keep pushing! Just because a doctor has a specialized degree in medicine, does not mean they have the right to dismiss information that can be life changing.
Posted on 03/10/08, 01:03 am