Chronology of events
• Chloe begins drooling lightly but continuously.
• She begins to fall a few times a day apparently without cause and we begin to wonder what is happening.
- We begin to notice she is very tired in the afternoon.
• She begins to hold balls of food in her mouth and can’t swallow easily.
• She stops going up and down stairs on her own.
• Her left foot turns inwards.
• Her Uncle, a dentist, notices she has a molar coming in and we believe her drooling is from that.
• Chloe begins falling often.
• She begins napping up to 5hrs
• She swallows with dificulty, we begin cutting her food into very small pieces
• Her speech is only understandable in the morning and getting worse.
• We take Chloe to a speech therapist recommended to her Grandmother, we are told that chloe is having problems enunciating because she is learning english and spanish.
• The neurologist in our private hospital tells us to take her to the Childrens Hospital in Malaga, the prognosis is not good.
• Chloe is admitted immediately and they begin to do tests, she spends 3 weeks in the hospital all the tests come back normal.
• Initially they look for a brain tumor, all CAT and MRI results indicate no tumor.
• IMPORTANT! at that momment, CHLOE BEGINS TO BE AFFECTED INITIALLY ONLY ON HER LEFT SIDE OF HER BODY AND STARTING WITH HER LEG.
• All her symptoms are getting worse quickly and her loss of motor skills spreads.
• We are released from the hospital and told “she needs discipline” and “her drooling is probably caused by her use of a passifier” we are told to see a pychologist/speech therapist and a physical therapist and they will see her again in 6 months.
• As soon as possible after her release from the hospital, we take her to se the psychologist/speech therapist for an evaluation.
• The McCarthy standard test is done and after various consultations we are told that her cognitive function is normal for her age ant that she is intelligent, fun-loving, expresive and independant but she has trouble concentrating on one thing and sitting still.
• This specialist begins seeing chloe 2 times a week for speech therapy and psychological treatment.
• We also begin to take her to a charity organization for children with disabilities “ASPANDEM” for physiotherapy and water therapy to try to improve her motor skills.
• We begin consulting with a Neurologist in the Hospital Costa del Sol, he continues ordering blood tests and other tests but we still are no closer to a diagnosis.
• Since Chloe started school she is very happy and enjoys it but she is terribly tired, her symptoms get much worse quickly.
• She has 4 therapy sessions a week between speech therapy/psychology and physical therapy.
• We realize by the end of the month that she has gotten much worse, severely fatigued by 7pm she moves and looks like a zombie, without the energy to eat her dinner.
• We organize a meeting with all the people treating her and decide to put all therapy on hold and place an emphasis on resting and limiting physical activity.
• Her doctor tells us that the only remaining that can give us information is a Muscular Biopsy, he petitions the Children’s hospital in Malaga to carry out the proceedure.
• We can no longer understand what she says the majority of the time.
• She still seems very tired but she is better with more energy in the morning.
• When she first wakes up she hardly drools and moves better. we call them her “good hours”
• She becomes dependent on someone helping her constantly a big change from her previous independance.
• We have a meeting with a neurologist for her to “approve” the biopsy December 4th.
• After our meeting with the neurologist we didn’t know we received no instructins only “we will call you” they didnt give us any information or a report of the consultation either.
• We were desperate and never received a call so we decided to go to the Nino Jesus Hospital in Madrid, in emergency room we were told to ask for a consultation with neurology (2-3months wait)
• IS IT NOT URGENT THAT MY DAUGHTER IS LOSING THE ABILITY TO TALK, EAT AND WALK? I still ask myself WHAT IS URGENT FOR THE PUBLIC HEALTH SYSTEM IN SPAIN?
• Lucky for us we were able to knock on doors until we managed to get Chloe admitted directly into the neurology ward.
• Once again they run a battery of tests and analysis that all come back normal.
• We are released from Nino Jesus on the 23rd of December so we can celebrate Xmas at home. Still no diagnosis and still Chloe gets worse. We wait for some blood tests that take “3 to 5 weeks”.
• We continue to wait for results and are contacted for a consultation with a surgeon that would perform the biopsy in Chlidrens hospital in Malaga for the 23rd of February.
• We manage to make contact and have a consultation with Dr. Campos, a semi-retired and highly respected neurologist with international recognition.
• He gives us a clinical diagnosis based on the symptoms that he thinks Chloe has Metachromatic Leucodistrophy or Neuroaxonal Distrophy.
• We are told the prognosis is very bad
• Dr Campos helps us organize a test for Leucodistrophy that we order directly from a lab in Barcelona and send a blood sample by messenger. We have been told in Nino Jesus that there are no other tests to be done at the moment until all results from previous tests have arrived.
• Dr. Campos has contacted our Dr in Nino Jesus to combine efforts on Chloe’s case.
• We have another consultation in Nino Jesus and our Dr confirms the deterioration that is evident since her visit a month before.
• We are called and told they will admit Chloe in the Nino Jesus hospital the last week of Feb.
• They do a second Spinal Tap (1st in Aug) another electromiogram (1st in oct) and take blood samples for myriad tests
• Chloe has a third MRI
• We send a fax to Childrens Hospital in Malaga to inform we will not attend the Feb 23rd meeting as Chloe is currently admitted in Nino Jesus.
• We receive the results from the December blood tests and the leucodistrophy tests still no diagnosis.
• We receive word we will have a new appointment in Malaga on the 16th of April.
• We ask our medical insurance company to help us get the biopsies we need since the waiting times for the Social Security medical treatment are so long. I ask myself why they call it “SECURITY”
• Finally authorizing the muscle and skin biopsy to be held in the Hospital Niño Jesus, forces recovered
• The April 26 biopsies are done, we can only just waite
• Immediately after they did biopsies, Chloe began to treat with carnitine, in a previous test levels they looked a little low, nothing alarming, but both Dr Dr Campos as Duat agree on the importance to take into account every little signal
• We traveled to Perpigñam, in southern France, we will see Alain Abgrall, an alternative therapist who works with the energy of people and spent many years treating patients with different diseases, says we find nothing in the evidence to Chloe because suffers an emotional block. It tells us to speak when asleep (20 minutes after falling into deep sleep to reach the unconscious) reafirmandole our love, says it will improve soon
• A final de mes aprovechamos la visita de la tia Silvi y familia y nos vamos una semana de vacaciones a la playa de Cadiz, Chloe esta radiante como nunca, juega muchisimo en la playa y en el agua donde las caídas no duelen. Hace mucho ejercicio y tambien descansa mucho, son dias felices
• At the end of the month we took the tour with aunt Silvi and her family and we’re a week’s holiday at the beach in Cadiz, Chloe is radiant as ever, plays a lot on the beach and in the water where the falls do not hurt. Too much exercise and get plenty of rest, are happy days
• We flew to Philadelphia, USA, we have an appointment at the Children Hospital of Philadelphia with Dr. Lynch and his team, they have already been in contact with us throughout the entire month of June, we have sent the entire file of Chloe, have also seen the blog with all the information, leaving them see the girl
• The visit to CHOP is the day after our arrival, lasts all day, Dr Lynch and Dr Brigatti make us a million questions, pointing all see it, study it, there are other doctors during recognition, after a couple of hours they told us to go to the caffebar and wait, they have to discuss, debate lasts hours …are very long hours
e de deficiencia de Carnitina, Sindrome de deficiencia de Coenzima Q10, o una enfermedad mitocondrial, probablemente no identificada aun, en cualquier caso, un fallo genético
• The conclusions are imprecise, doctors suspect a very rare type of ataxia, while indicating that it is highly unlikely, carnitine deficiency syndrome, Syndrome Coenzyme Q10 deficiency, or a mitochondrial disease, probably not even identified in any case, a genetic fault
• Dr Lynch asked about treatment with Coenzyme Q10 I read a lot and had given excellent resutados in some types of ataxia, tells me that if you ask the Hospital de Madrid a genetic deficiency of Q10, but while therefore we could prove, says he can not give wrong and if you do well, you will see in a few weeks
• We started treatment with Q10, 200 mg daily initially (and continue with the Carnitine and gave us suplemtos Dr Busko + hiperproteica organic diet rich in animal fat
- Dr Busko, who started work at Chloe in the distance, communicating through internet, sees Chloe several times during our stay in Lancaster, and in June he’s told us the importance of maintaining a diet high in animal protein, completely organic, rich in fat and low in carbohydrates and sugar, we keep this diet since then, along with a significant number of food supplements, vitamins and minerals
OCTUBRE 2012/ OCTOBER 2012
• Chloe esta mejor, no sabemos que ha pasado ni si es una situación temporal, pero la vemos mas estable, se cae menos y ya no babea, empieza a comer mejor, a hablar mejor,los cambios son muy significativos, todo apunta a que el deterioro tan violento que sufría se ha detenido.
• Chloe is better, we don’t know what happened or if it is a temporary situation, but we see her more stable, fewer falls and no drooling, she start eating better, to speak better, the changes are significant, it seems that the so violent that suffered deterioration has stopped.
• At the end of November we had the appointment at Hospital Universitario 12 de Octubre,Dr. Camacho and his team received with great interest, have been derived from the Hospital Niño Jesus de Madrid.
• All team members see Chloe and carefully studied, are repeating the endless questions, I turn to tell the story of Chloe detail to detail.
• Doctors agree with the doctors of Pennsylvania, keep the same treatment, do not know what may have caused the change.
• I explained the situation Kaia, want to see it, we agreed that the next visit will take the two girls.
• Neurologists decide to study genetic Q10 deficiency in the muscle sample having in his laboratory, we know that the results will take months, we decided to spend Christmas with my family in Argentina, we hope that the love of mine we do the wait easier.
• I see a story on the news a scientist in Barcelona presented the world with a genetic test for the Study of Metabolic Diseases unifying hundreds of tests on a unic test and reduces cost them from 100.000 € to 3.000€
• From the time I started looking for this Dr desperately, had a hunch that could help
• Dr Matilla finally located in a laboratory in Barcelona, get his email and write him, this open the door to hope, he want to study both girls, from there he and Mike are crossed dozens of calls telephone and emails
• At the end of November we sent blood samples of four, Mom, Dad, Chloe and Kaia, work begins for Dr Matilla, All our hopes are focus on him
- We are still waitting for the results