Undiagnosed

As part of Rare Disease Day, Mommies of Miracles would like to take a minute to recognize those of us that are still looking for answers.  Medicine advances everyday, yet there are still many of us dealing with conditions so complicated and rare that we are not able to get answers and help we need.  Below we share one family's story of their struggle to get a diagnosis for their son.  Please, while reading this post, try to think if you have any information or suggestions that may help this family.  If you do, you can comment here and/or email Mommies of Miracles.

My son, Joaquin, suffers from a rare, undiagnosed condition.  We are desperately searching for answers.  Below I will go over some of the things that we are seeing with my son, and hopefully someone out there can recognize some of these and provide us with some new ideas.  Thank you in advance for any help.

Here are 2 short videos that show Joaquin before and after:
Before
After

Symptoms 
tremors, generalized rigidity, foot deformity, microcephaly, swallowing and chewing problems, language problems, unusual eye movements.  He was a born a normal, healthy child.  These issues did not start until he was 3 years old- he just turned 4. 

Test/Diagnosis 
We have had MANY test run.  He has a normal MRI, analysis of laboratory normal neurotransmitters klinicum German Universities by lumbar puncture, quantification of blood and urine amino acids in normal, normal metabolic diseases, normal lactic acid, urine organic acids in normal, normal EEG, ultrasound normal abdominal, IVX normal, PKU normal, prolactin normal, normal celuloplasmina, copper in normal blood, normal cariograma, t3, t4, tsh, and normal PTH, vitamin B12 normal, uric and lactic acidu normal, rx thorax, pelvis, and extremities below normal, normal bone scintigraphy, normal somatosensory evoked potentials, resonance servocolumna normal, normal ammonium, total CK normal, normal ferritin c3c4, epstein barr normal PCR mycoplasma normal, simple normalherpes cytomegalovirus PCR 1 and 2 negative, negative virus type 6 erpes , Lupico anticuagulante normal, normal ASO, etc, etc, we will miss all, all tests, and are normal, we need only the genome sequence to drain hope.
 
Treatment
The only treatment he is currently receiving is grifoparkin (L-DOPA) 30mg a day
 
 Resources 
Clinica Las Condes, Indisa clinic, clinic davila, clinic san maria, san jose hospital, hospital j aguirre, Robert hospital river, hospital, clinic or Catholic. In Chile there is an entity specialized in these cases, no clinics around the country have been able to give a diagnosis for my son's illness. single entity but only REHABILITATION support is the telethon.


If any of the details in this description sound familiar to you, please post a comment and/or email Mommiesofmiracles@gmail.com.  This family needs our help.  Thank you, and hopefully together we can help make a difference for Joaquin.

Contributed by MOM Ignacio Garcia Collins