Weblog van een gezin met een HSP kindje

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Pleun is toch wel een "apart" geval met HSP

Geplaatst op 30-10-2007 20:52 door Marije
Categorieën: de diagnose

In een notendop:

Pleun is op 15 september 2003 geboren met meteen al de verschijnselen van HSP. Niet dat dat ons dan al meteen opvalt...

Pas rond 14 maanden bemerken we duidelijke achterstand t.a.v. zitten op billen (valt nog regelmatig om), kruipen maakt hij nog geen aanstalte toe, staan/lopen kan hij nog helemaal niet. We "ontdekken" zijn spitsvoeten nadat we daar door reguliere crêche op worden gewezen, deze crêche wijst ons ook op feit dat ze ervaren dat Pleun -i.t.t. leeftijdsgenoten- nog zo'n grove handmotoriek heeft (boterhammetje pakt hij met knuist, niet tussen vingertjes zoals kinderen op die leeftijd doen).

We starten met kinderfysiotherapie aan huis als Pleun ca. 14 maanden is. Dit om het kruipen te stimuleren. Het consultatiebureau verwijst ons -op onze uitdrukkelijke wens- eindelijk door voor kinderfysiotherapie. Volgens "het boekje" van de consultatie bureau arts, die zich in het geheel nog geen zorgen maakte, zouden kinderen pas met 15 maanden moeten gaan kruipen.

Rond ca. 15 maanden vragen we zelf doorverwijzing naar kinderarts/neuroloog in regionaal ziekenhuis. De eerste kinderneuroloog die Pleun ziet zegt: "dat zijn spitsvoeten de oorzaak zijn van het lopen in een loopkarretje". Dit loopkarretje hadden we aangeschaft omdat hij nog niet kroop en we hem wilde leren zichzelf te verplaatsen. M.a.w. wij dachten, loopkarretje de deur uit en Pleun zal binnenkort gaan kruipen/lopen. Pleun gaat inderdaad vanaf 15 en halve maand kruipen, "kikkeren" eigenlijk zoals het heet. Lopen kan Pleun tot op de dag van vandaag niet zelfstandig. Wel loopt Pleun vanaf ca. 2 jaar met een rollator, zij het kleine stukjes (max. 8-10 meter) én met veel moeite binnenshuis op vlakke ondergrond.

Rond ca. 15 maanden starten we met fysiotherapie, logopedie en ergotherapie gecoördineerd door kinderrevalidatiearts in regionaal ziekenhuis, hiervoor gaan we 4/5 maanden lang 2 keer per week een dagdeel naar regionaal ziekenhuis.

Rond ca. 16 maanden wordt eerste MRI gemaakt in regionaal ziekenhuis. Artsen beginnen te denken in de richting van hersenbeschadiging voor/tijdens/na de geboorte met spasticiteit tot gevolg. Deze afwijking wordt ook wel "cerebrale parese" genoemd. Omdat Pleun ter wereld is gekomen na een spoedkeizersnede wegens "foetale nood" (hartslagje zakte onder de toegestane grens tijdens bevalling) leek hersenbeschadiging in eerste instantie zijn spasticiteit te kunnen verklaren. Voor het eerst horen wij de term "spasticiteit" uit de mond van een arts. Maar dezelfde arts voegt er aan toe "een lichte vorm van spasticiteit" die zich bij Pleun uit in lichte stijfheid in de benen en voetjes in spitsstand. En....voegde de arts eraan toe...maar hij gaat heus wel lopen hoor!

Resultaat van de eerste MRI scan in het regionale ziekenhuis: er worden geen afwijkingen gevonden op de MRI die aan kunnen tonen dat Pleun zuurstofgebrek heeft gehad. Bij cerebrale parese laten de hersenen op een MRI beschadigde delen zien in de vorm van een "litteken". Die littekens werden bij Pleun niet gevonden. We worden door het regionale ziekenhuis naar huis gestuurd met de woorden: "bij 30% van de kinderen met cerebrale parese kan dit niet met een MRI worden aangetoond". En dus....gaan we weer naar huis met aan de ene kant wel een soort van blije gedachte dat "het" dan bij Pleun wel niet zo ernstig zal zijn met die spasticiteit. Tegelijkertijd overkomt ons een enorm gevoel van onmacht. Onmacht tegen "een" arts die eigenlijk tegen ons zegt "we kunnen het niet vinden, dat gebeurt wel vaker, dus doe het er maar mee". En zo zitten mijn man en ik beiden niet in elkaar...

Rond ca. 20 maanden, vragen we een second opinion aan in het VUmc te Amsterdam, bij Dr. Vermeulen, kinderarts/neuroloog. We zijn dan op een aantal informatieavonden over cerebrale parese/spasticiteit in het VUmc geweest en tijdens zo'n avond raakten we in gesprek met Dr. vermeulen. Deze overtuigde ons in zijn verhaal ervan dat spasticiteit altijd aantoonbaar moet zijn op een MRI, of het nu gaat om cerebrale parese of de erfelijke vorm van spasticiteit. Tijdens deze avond horen we dus voor het eerst de term "erfelijke vorm van spasticiteit" en zelf hebben we dan al eigenlijk de diagnose gesteld dat Pleun zeer waarschijnlijk deze "erfelijke vorm" van spasticiteit heeft. Temeer daar wij dus al wisten dat die littekens in de hersenen van Pleun niet waren gevonden.

Als Pleun ruim 2 jaar is, wordt hij voor het eerst gezien door Dr. vermeulen. Als deze arts Pleun ziet bewegen/lopen, dan bevestigt hij vrijwel meteen dat hij gezien het looppatroon van Pleun toch ook sterk denkt aan een erfelijke vorm van spasticiteit. Er wordt een 2e MRI gepland om dit aan te gaan tonen.

Pleun is ruim 2 en half jaar. De dag van de uitslag van de 2e MRI. Er wordt aangetoond middels MRI in het VUmc dat er witte stof afwijkingen in zijn hersenen zichtbaar zijn. "Normaal" hoort witte stof op MRI zwart van kleur te zijn. Bij Pleun is de gehele witte stof op de MRI grijs van kleur. Dr. Vermeulen geeft aan dat ook dit zijn vermoeden richting een erfelijke vorm van spasticiteit bevestigd. Witte stof afwijkingen zouden vaker zijn waargenomen op MRI's van mensen die de erfelijke vorm van spasticiteit dragen.

Er wordt direct bloed afgenomen bij Pleun om op zoek te gaan naar het gen dat deze witte stof afwijkingen -en hiermee zijn ziektebeeld- kan bevestigen. Dit bloedonderzoek neemt 6 maanden in beslag.

December 2006 (pleun is 3 jaar en 3 maanden): de uitslag van het bloed laat zien dat Pleun HSP heeft. Pleun heeft een afwijking in het SPG 4 gen (de meest voorkomende en 1 van de ... genen (degene die dit aantal weet, help me even!) die HSP kunnen veroorzaken) die HSP veroorzaakt. Direct wordt ons bloed afgenomen om te onderzoeken van wie van ons Pleun deze ziekte heeft overgeërfd. HSP is immers (in 93% van de gevallen) erfelijk. We hebben dus 7% kans dat Pleun eerste in lijn is.

Mei 2007: in ons beider bloed is de SPG 4 afwijking niet gevonden. Conclusie: Pleun is eerste drager van de ziekte HSP binnen onze families. Oorzaak: "foutje" in een genmutatie ergens aan het begin van de zwangerschap. Ieder mens heeft defecte genen, jij, ik, de buurman van verderop, iedereen, alleen bij Pleun is net een héél belangrijk gen defect die betrokken is bij ons bewegingsapparaat. Meer over het SPG 4 gen, want dan treed ik echt in detail, onder het kopje "wat is HSP?".

Om maar even terug te komen op de titel van dit bericht, waarin ik omschrijf "Pleun is toch wel apart geval met HSP". Hiermee bedoel ik het volgende. Als je uitgaat van ca. 9 op de 100.000 mensen in NL die HSP hebben, dan komt dat neer op zo'n 1200 mensen. Op de laatste HSP lezing die wij bijwoonden op 15 september jl. tijdens VSN dag vernamen wij dat slechts 7% van die 1200 mensen meteen al wordt geboren met (in mindere of meerdere mate) verschijnselen die HSP aanduiden. Dan is Pleun dus 1 van de 84 (!) mensen in NL die als kind worden geboren met meteen al de verschijnselen van HSP. Slechts 84 mensen hebben dus de "kindvorm" van HSP.

Nou, de notendop, was toch weer een flinke! Binnenkort meer....


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