KatieMac81's Journal

   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, whome sturrgles to thrive not only in growth, but also mental abilitys, and cordination.  She loves to sing, dance and play princess. She hates to write, has trouble with memory, concentration, and is rather uncordinated.

   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 colicy, but know we know it was due to her carnitine deficency... 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 instict 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 refereals to finally go through.  We started by simply making faces to stregthen her facial muscles.   That helped a lot.   Then finally a refferal 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 atriculation 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 authoriziation. 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... Unfortunatley  for us, those issues were not our problem.  So Virgina 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 happend.... 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 gentics doctor as far as  results... So natrually 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 defeciency" 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 deficency 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 devlopmentally 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 Virgina failed my daughter...  I could go on and on about how horrible that commonwealth is.... Butinstead 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 Nusre 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 Linabells disorder as a "Fairytale Disease"  because it is so rare. 

 My only hope for Linabell is that she does not further diblitate 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 Deficency I & II.  The problem I see is that like Doctors in VA... They are blinded by they're own arrogance, and without parents that fight, as long and drawned 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.