destroyer of Hopes & dreams
Elena (2) has MLD, a.k.a Metachromatic LeukoDystrophy, a rare metabolic disorder. Her body fails to make a specific enzyme that protects the nerves. Doing so brings damage to the nerves until they die. Bit by bit she is losing all her skills and is likely to die at a young age. Elena is losing muscle strength and recently lost the ability to walk, to sit independently, to swallow and to speak. Her intellectual development has stalled and she is completely dependent on her parents' care.
What is MLD?
MLD is short for metachromatic leukodystrophy. Translated from doctor talk MLD means: meta - change, chromatic - color, leuko - white matter, dystrophy - degeneration. MLD's name therefore comes from degeneration in the white matter of the brain and Central Nervous System (CNS) which has a colour on staining that should not be there. Staining was how the disease was observed before the advent of the MRI.
Basically people who are affected by MLD lack an enzyme in their blood called Arylsulfatase-A, (ARSA). Without this enzyme, sulfatides are NOT broken down and instead build-up in the white matter of the brain and CNS causing destruction of the myelin sheath, or demyelination. Without an intact myelin sheath there is a breakdown in communication between the nerves and the brain. This loss of or miscommunication accounts for the loss of acquired functions, paralysis, blindness, seizures and eventual death seen in MLD.
MLD is an autosomal recessive genetic defect. Translated this means both males and females carry the gene and both parents need to carry the defective gene in order to have an affected child. It is estimated the carrier defect occurs in in the general population at 1 in every 100 people and the affected birth rate is 1:40,000 – thus MLD gets its designation of being a rare disease. MLD is not contagious and can not be passed to others through any sort of contact - it is a genetic condition. At this time there is no cure for MLD.
Timeline of the disease
Her first laugh
Elena laughs for the first time with mummy and daddy.
Elena, 15 months. First symptoms
Elena goes for a routine check to the doctor. We inform him that walking has become more difficult for her, and she requires more support than before. We suspect hyper-mobility becasue mom and grandfather have it too.
The nurse mentions to the doctor the unstable walking, but he laughs it off. "Everything is normal. Patience." Elena speaks some simple words ("mama," "dada", "David" and "more").
Check-up 18 months. Walking is increasingly difficult.
Still checking with the doctor, who continues to claim everything is normal. The nurse insists that her walking is unstable, but again he laughs it off, saying that it is not abnormal to have such late development. Elena can say some more simple words.
Elena goes for an EMG electrode test to the hospital. Everything must have appeared normal, for nothing is reported to us.
Hospitalized for the first time
We pick Elena up from daycare and they inform us that she has fallen from her chair while drawing. They are finding it increasingly difficult to feed her. She is not the same as before. She barely moves, communicates mainly by crying, she has lost vocabulary, and shows little interest in her surroundings. They advise us to go back to the doctor, but he has lost our trust as he does not seem to take her case seriously. We decide to take her to the emergency room, where they see to her immediately. They take various blood and urine samples, and repeat the EMG test. She is taken with her mother to Alicante for a brain scan. An alteration in her white matter is detected, although the exact cause is unclear. During her stay at the hospital, she regains some strength and on the 4th of july she is allowed to go back home. A spinal tap is planned for the 7th of July.
The hospital pediatrician performs a lumbar puncture (spinal tap) to Elena. Over the next few weeks, the pediatrician and child neurologist sacrifice their Sundays to follow Elena's case.
Second time hospitalized
Elena has some kind of seizure. Her eyes roll away and she loses consciousness for a few seconds. She has a severe fever, so we rush her to the hospital. Upon her arrival, they raise a red flag and we are overwhelmed by the large number of doctors and nurses surrounding Elena. They take various blood and urine analysis, and a new EMG test, to see if the cause manifests itself during the attack. The situation seems very serious and it is decided that she is transferred to the University Hospital of Murcia.
Transfer to the Universitairy hospital of Murcia
We arrive in the late afternoon to the emergency department of the Murcia University Hospital. This is a moment we will never forget. Various emergency doctors and students heatedly argue about her diagnosys in front of us. Elena is in all states, she is in pain and distressed, while we can only watch helplessly. They put her under observation and the next day perform a new lumbar puncture, and a brain puncture under anasthesia.
First diagnosis : MLD
Elena is transferred to the pediatric intensive care unit. Mom will get to hear the terrible diagnosis: Leukodystrophy, presumably MLD - or metachromatic leukodystrophy. A serious hereditary metabolic disorder. There is no cure for the disease and the life expectancy is extremely short. For a bone marrow transplant, it is already too late. The transplant is a very heavy treatment with very high risks and achieve the potential profit is too small.
Elena is transferred to the infants department where she develops a high fever and severe diarrhoea caused by the rotavirus. She is placed in isolation not to contaminate the other children. The fever caused a neurlogic decline and completely takes away her ability to speak and to swallow. Meanwhile, she can't sit up straight anymore and moving her arms and legs becomes increasingly difficult. From now on, Elena has to be fed through a nasogastric tube. She is assigned to liquid formula, and will never again eat normal food. Her last word was "Mama".
We do not lose heart and go on the Internet looking for alternative treatments. Thus we arrive on the website of the San Raffaele hospital in Milan, where Dr. Alessandra Biffi has developed a successful gene therapy for MLD patients. We contact but the doctor is on vacation. We will send all details by email and hope for her to contact us soon.
On 29/07, after several days fighting against rotavirus Elena can finally go home where we are on our own to make her remaining days as comfortable as possible. Little did we know what we were up to.
Barcelona lab results
The results come back from the lab, but are not as they had expected. The ARSA values are too low and there is doubt about the diagnosis. Krabbe's disease, a similar lysosomal leukodystrophy, is not excluded.
Not eligible for the Milan therapy
Finally we hear from Dr. Biffi in Milan. Elena does not qualify for the experimental gene therapy because of the already many symptoms she has. She is already near the 3rd and final phase of the disease. With the help of this experimental gene therapy they succeeded to stop the disease in 6 pre-symptomatic children who have been early diagnosed or who have lost a sibbling to the disease. Our last bit of hope is gone ...
To hopefully reach a definitive diagnosis, they take a skin sample from the upper arm of Elena. I have never heard a child scream so hard. It was truly awful.
Fifth time hospitalized
Elena is suffering again from nausea. She vomits after every meal and shows signs of dehydration. The nasogastric tube is playing tricks on her. She was admitted at the hospital where she receives nutrition through the drip. Step by step they build up the amount of food and once she's back on track we are allowed to go home. It's about time Elena gets that PEG feeding tube they talked about 2 months ago ...
Tuesday Morning: along with Elena, we are taken to the pediatric intensive care unit where they sedated her and place the Mic-Key PEG via endoscopy. A small routine procedure that would last only 15 minutes. Elena, however, does a reaction to the anesthesia, which causes the surgery takes a little longer than anticipated.
Elena will ultimately remain 4 days in the hospital in order to recover from the surgery, and in order to give time to heal the wound.
Seventh time hospitalized
Elena is re-admitted at the hospital of Torrevieja, this time with a stomach virus, high fever and dehydration caused by the many vomiting (Reflux). They take several blood and urine samples and perform an EEG scan. After five days Elena is finally allowed to go home.
First hospitalization of the new year
8th hospitalization in less than one year. Our desire to start the new year without hospital admissions is clearly not true. Elena is very irritable, has muscle aches and low-grade fever occurs. Fortunately, they have it quickly under control and after 24 hours we can leave the hospital.
Check-up with the nueropediatrician
Elena meanwhile weighs 13.5 kg and measures 89.5 cm. Thanks to physical therapy and medication Elena is in a relatively good condition. She has no more problems with the stomach tube and tolerates tube feeding well. She seems happy, makes eye contact and demands attention.
Elena has mucus in her chest which she often vomits. We are always on the lookout, day and night, so she doesnt sufficate in it.Her muscles are getting weaker, they can move less and her reflexes have slowed significantly. For the rest she seems to be fine. The doctor is suprised to see her like this and tells us to keep on doing what we are doing because it seems to be working very well.
Final diagnosis: 100% MLD
After many months of waiting impatiently, we have received the final diagnosis. There is no doubt: late infantile metachromatic leukodystrophy, or MLD. A genetic study is requested to investigate whether the parents are carriers of the disease and to exclude her brother David as being a carrier or being affected.
Elena passed away
With a lot of pain in our heart we have to say that this morning our beautiful little sweetheart left this world peacefully and joined the angels. She will always be our sweet little Elena. Love you very much strong little fighter. We are very proud of you. You will always be an example. No matter how sick you were, you kept on smiling. We will miss you a lot.