This Professor of Pediatrics denounces that the lack of political interst will prevent increasing the number of diseases diagnosed at birth.
LUIS PARDO – El Mundo – 29 de March de 2008
Question.- Why is it so hard to expand the detection as they have done elsewhere?
Answer.- In newborn ‘screening’ we have rested on our laurels. Full coverage was achieved in the 1980s to identify in time hypothyroidism and phenylketonuria and so on until today. In some European States, such as France, United Kingdom or Germany, they have detected a minimum of 20 diseases at the time of birth whose prognosis can be corrected or improved. Spain only has one centre of reference for rare metabolic diseases. It is in Santiago de Compostela and has a special device, an expensive equipment known as ‘tandem mass’, able to suspect the diagnosis of many diseases prior to their appearance.
A.- Many of the organic acidurias organic, like Maple Syrup, Methylmalonic Acidemia, Glutaric Methylmalonic Aciduria type one, diseases that if detected further on, already in the acute phase, i.e. with a week or a month of life, can lead to a serious mental retardation in adulthood. Metabolic disorders affect one per 400 births in Spain.
Q.- With benefits so obvious, why is Santiago’s example not followed?
A.- Murcia is starting to work on it. In the Basque country the device has been is acquired five years ago, but the first three it was not working and now it operates at a very low performance. Catalonia or Seville have purchased it but they either use it little or have lack of experts for its management. Eight devices would be enough for 400,000 newborns each year. Another problem is that each community will want to buy one, which would be a mistake because there are communities with 100,000 newborns and others with less than 3,000. An optimum performance requires about 25,000. Here is where the Interterritorial Council should act by acquiring and distributing this resource according to necessity. Politicians should be aware that the map of rare metabolic diseases has nothing to do with the autonomies. In the next National Congress of Pediatrics I will present a mixed model of clinical units and Biochemistry and what there location should be throughout the State.
Q.- What is the situation of metabolic rare diseases within the large group of rare pathologies?
A.- They are not worse than the rest of rare diseases and have an interesting feature: for the majority of them we know the molecular basis, i.e., which is the specific genetic disorder. This allows a councilling and diagnosticating prior to birth. Some are beginning to have specific treatment with enzymes, which are expensive therapies that cost about 180,000 euros annually. This is one more reason to have accredited centres of reference in this country and not going each on our own way. We must streamline the tremendous expense they generate.
Q.- What concerns moreto the parents of affected children?
La segunda petición hecha a Sanidad consiste en reforzar el servicio con un especialista en dietética «unas horas todos los días o, mejor, a tiempo completo». El control de la dieta constituye la columna vertebral del tratamiento contra las enfermedades metabólicas. Aunque la terapia varía en función de cada patología, la mayoría de los niños tiene que convertirse obligatoriamente en vegetarianos y sustituir las carencias que les provoca la falta de carne y pescado con productos dietéticos especiales «muy caros», que se importan de Estados Unidos y Reino Unido.
A.- At the beginning, diet issues. Your child will have to follow a really complicated diet for life. For example, you may not eat high-protein foods or drink milk. But what really overwhelms them is the same thing that worried me: who will take care of your child when you leave the Pediatric service if adult medicine does not have specialists in this subject. Myself, without a legal cover, I’m seeing 20% of patients that have more than 18 years and almost 30 per cent with more than 14. The best specialty for this task is discussed in Europe. I think that it should be the internist and neurologist.