Vera Rubicon

Vera Rubicon

Skriver om verdens tøffeste Leon!

...og vår situasjon med Jacobsen syndrom, Paris-Trousseau syndrom, Cerebral Parese, hjerneblødning og det å være mamma til et funksjonshemmet barn.

Jacobsen syndrom

11qPosted by Vera Rubicon Mon, March 14, 2011 07:27:18
Dette er en film om en av familiene vi traff i USA som også har en sønn med Jacobsen syndrome.

This is a family from USA that we met when we were in San Diego. They also have a son with Jacobsen syndrome.

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Paris-Trousseau syndrome

Jacobsens syndromPosted by Vera Rubicon Thu, December 16, 2010 22:00:53

Det er en stund siden jeg har nevnt dette syndromet og det er fortsatt veldig viktig å minne alle rundt Leon på at han har dette syndromet. Paris-Trousseau syndrom påvirker blodplatene til Leon og han vil alltid være i faresonen for å få alvorlige blødninger.

Dette er blodplatenes oppgave:
I blodet finnes røde og hvite blodlegemer og blodplater. Blodplatene er våre minste blodlegemer. De har ikke kjerne og kan derfor ikke dele seg. Blodplatene dannes i benmargen, og de finnes i et antall mellom 150 og 400 milliarder i en liter blod. De lever i 10-12 dager og fjernes i milten når de blir for gamle eller skadet.

Blodplatene inneholder en rekke stoffer, som blir virksomme når en skader blodårer, får infeksjoner eller ved andre sykdomstilstander. Da får blodplatene beskjed om å klumpe seg til den skadde åreveggen. Dette vil raskt kunne hindre et blodtap.
Blodplatene er sammen med visse stoffer fra leveren en viktig del av blodets evne til å levre seg. Når det oppstår feil i oppbyggingen av blodplatene, fungerer de dårlig og vi kan få økt tendens til blødning.
Informasjon er hentet fra

Da Leon ble født lå blodplate verdiene hans på 6, noe som er svært alvorlig. I dag er de innenfor 150, men ettersom tilstanden hans med Paris-Trousseau syndrom, så virker ikke blodplatene hans like godt som hos andre mennesker, selv om verdiene har steget. Hvis Leon slår seg eller kutter seg, så må man handle raskt og kontakte sykehus. I de fleste tilfeller vil han trenge overføring av blodplater for å kunne stoppe en stor blødning. Det jeg har opplevd med disse blodplatene hittil er ved bare et lite nålestikk i fingeren hans ved en blodprøve kan blø i over en time dersom jeg ikke holder press på det over lengre tid. jeg tørr ikke tenke på hva som ville ha skjedd dersom han skulle ha skadet seg...

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San Diego, California

Jacobsens syndromPosted by Vera Rubicon Mon, January 04, 2010 22:25:25

We are going til San Diego, California in july 2010!!!
I have just booket the hotel for 10 days and I've bought the flighttickets!! I'm so excited!! It's Leon, Knut-Henrik, my mother and me who are going and we are going to the conference about Jacobsen syndrome.

I really look forward to meet all the other families in America who also have a family member who got Jacobsen syndrome, to make friends and to learn new things about this syndrome.

This is the hotel we are staying at:

California, here we come..!!smiley

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11q terminal deletion disorder: Jacobsen syndrome

Jacobsens syndromPosted by Vera Rubicon Tue, May 19, 2009 10:54:50
Tekst from
Copyright © Unique 2005

11q terminal deletion disorder is a rare genetic disorder. It is known as a terminal
deletion disorder because it is caused by the loss of genes from the end (terminus) of
chromosome 11. It is also called Jacobsen syndrome (JS) after the Danish researcher
who first identified it in 1973. In this leaflet, both the names 11q terminal deletion
disorder and Jacobsen syndrome are used.

11q terminal deletion disorder has been thoroughly studied and the clinical features are
well known. Multilingual family support networks exist in Europe and North America,
so there is no need for any family with a newly diagnosed child to feel isolated.

Chromosomes are the microscopically small structures in the nucleus of the body’s
cells that carry genetic information. They are numbered in size order from largest to
smallest, from number 1 to number 22. We have two of each of these chromosomes,
one inherited from our father and one from our mother, in addition to the sex
chromosomes X and Y. Each chromosome has a short (p) and a long (q) arm. In most
people with this chromosome disorder, one chromosome 11 is intact but the end of
the long arm of the other has been lost.
The genes lost from the end of the long arm of chromosome 11 determine most of the effects of Jacobsen syndrome. In most people, the chromosome has broken in the bands called 11q23 or 11q24 and the end is missing. Some people have lost just a part of this
area of the chromosome and they are expected to have some of the typical features but not all. The geneticist or paediatrician can tell you where your child’s chromosome 11 has broken.

In most people with Jacobsen syndrome, one chromosome 11 in each cell has the deletion but a few people have a mixture of cells with normal chromosomes. This is called mosaicism and usually makes the disorder less severe.

How is this disorder detected?
Magnified chromosomes can be seen under a microscope. Chromosomes from cells prepared from a blood sample are stained, giving them a ‘barcode’ appearance, then magnified as much as 900 times and examined. The broken chromosome 11 can normally
be seen but to determine the breakpoint(s) more precisely, a molecular analysis such as FISH is needed.
This will show more precisely which chromosome segments have been lost and helps in predicting the effects.

Why did this happen? Can it happen again?
To answer this question, the parents’ chromosomes need to be examined. In the
great majority of families – over 90 per cent in the largest group of 110 people
studied - both parents have normal chromosomes. The 11q deletion has then
happened as a one-off event and it is very unlikely that anyone else in the family will
be affected. The technical term for this is de novo < meaning that the child with
Jacobsen syndrome is the only person in the family known to be affected.
A de novo deletion will usually have occurred during the formation of the egg or the
sperm and may perhaps be caused by a fragile site on the chromosome. Whatever
the reason, nothing that either parent did caused it to happen and there was
nothing they could have done to prevent it.

In a few families – under 10 percent in the large group study - one parent has a structural rearrangement of their own chromosomes. This is usually
balanced so that all the genes and chromosome material are present and the parents are entirely healthy. However, in these families the risk of having another affected
child is higher. Your genetics service can offer you an appointment to discuss your
personal situation when you are thinking about another pregnancy.

How can I know how this disorder will affect my child?
Jacobsen syndrome is one of the most thoroughly and recently studied rare
chromosome disorders. Drawing on a large study published in 2004 that looked at
the effects on 110 people, its general effects and natural history can be described
fairly accurately. All the same, this is still a small number and it is quite possible that
as more people with this disorder are identified, new features will emerge that
affect only a minority of people.
It is also very likely that people who have lost a smaller amount of chromosome
material from 11q are less obviously affected and may not have been diagnosed. For
these families, the description in this leaflet probably paints too bleak a picture. On
the other hand, babies with the syndrome who have very serious heart disease,
particularly hypoplastic left heart syndrome where the chambers and valves on the
left side of the heart are severely underdeveloped, may in the past not have
survived, so this description would be too encouraging. Overall, it is the best
picture that can be drawn at the moment.

Feeding and weight gain

Many babies are reluctant to suck and find it hard to coordinate
sucking with swallowing. Some babies also have reflux,
when the contents of the stomach flush back up the food pipe.
Most of the feeding difficulties are a result of low muscle tone
and immature co-ordination and improve both with age and
after heart surgery for babies with a cardiac problem. Babies
with severe reflux that cannot be managed with careful
positioning for feeds, sleeping with a raised cot-head and
prescribed medication can be considered for a fundoplication, a
surgical operation to improve the action of the valve at the
lower end of the food pipe. Many babies and toddlers with
Jacobsen syndrome benefit from a G-tube (a gastrostomy tube
through which they can be fed direct into the stomach) as a
temporary solution.

Growth and appearance
Most children are short for their age, and many are in the
lowest five per cent of the population for height. Some of the
very short children have a reduced amount of a type of growth
hormone called IGF-1 (insulin growth factor-1). All children
with Jacobsen syndrome are recommended to have an
evaluation of hormone levels by a paediatric endocrinologist. If
your child is found to be deficient in this growth hormone,
discuss the pros and cons of treatment with your child’s

Most children have slightly unusual facial features and you may
notice similarities with other children with Jacobsen syndrome.
Some of the features that have been pointed out most
frequently are low set ears, a pointed forehead (caused by
early joining of the plates of bone in the skull at the central
metopic seam, and known as trigonocephaly), wide set eyes
(hypertelorism), a broad bridge to the nose, down turned
corners to the mouth, hooded or drooping eyelids (ptosis), a
small lower jaw, folds of skin across the inside corner of the
eyes (epicanthic folds) and a small head.
Most of these features are no more than cosmetic. Severe
trigonocephaly can be relieved by a surgical operation to open
the plates of the skull (craniotomy) and eyelids that obscure
the pupil can be raised surgically to ensure that vision develops

Most children with Jacobsen syndrome learn more slowly than
their classmates in a mainstream class, and typically they have
mild to moderate learning difficulties. A few children learn at a
normal pace and a link has been suggested between the size of
the deletion and learning ability. There is a very varied picture
and it means that children with 11q terminal deletion disorder
are recommended to have a detailed educational assessment to
identify and build on their strengths. One factor that may
undermine achievement is children’s typically short attention
span and easy distractibility, particularly in an unstructured
learning environment.


Speech emerges late and children need support in using
alternative means of communication (such as pictures and
signing) until they can express their needs and feelings. The
great majority of people with Jacobsen syndrome do learn to
speak and some become fluent. However, this is not possible
for all and many children understand (receptive language) at a
higher level than they can talk (expressive language).


The first formal study of behaviour in 11q terminal deletion
disorder is under way. Until it is completed, information comes
from families’ experiences. Within a quite varied picture, these
show a vulnerability in some children to behaviour disorders.
Some children have challenging behaviour and have a tendency
to be attention-seeking. Some children have spectacular
tantrums, but these and any aggression usually lessen once
language develops. Some children develop compulsive behaviour
(such as shredding). A few children attract a diagnosis of autism
and many are diagnosed with attention deficit hyperactivity
disorder (ADHD). Overall, children appear to function better in
a structured environment and there is a suggestion that they
relate better to adults than to children of their own age.
Families should seek early support if they are concerned, if their
child starts hitting or biting others or shows any obsessive

Development of motor skills
Children with Jacobsen syndrome will reach their developmental
milestones somewhat later than other children – but they will
reach them. Both the large group study and Unique’s records
show that all children learned to walk. Most children overcame
hypotonia (floppy muscles, low muscle tone) to do so and some
children also needed specific orthopaedic interventions to deal
with problems such as talipes (club foot) and tight foot and calf
Hand use and hand-eye co-ordination (fine motor skills)
develop late but with early intervention and consistent
occupational therapy, the great majority of children learn to
feed and dress themselves, to write and to use a computer.

Medical concerns

Bleeding disorders
All children with 11q terminal deletion disorder are considered
to have a bleeding disorder known as Paris Trousseau
syndrome. This makes them liable to bruise easily or bleed
copiously if any blood is taken and puts them at risk of internal
bleeding. Even a nosebleed can cause heavy blood loss.

The problem is two-fold – at birth babies have a low level of
the platelets in the blood that help to form blood clots
(thrombocytopenia). Additionally, even when platelet levels rise
to normal as they usually do during childhood, an abnormality
in platelet function remains. The severity of the dysfunction is
highly variable – it may be scarcely detectable or lifethreatening
– but Jacobsen syndrome children have a lifelong
risk of heavy bleeding.

This means that platelets should be available to transfuse
children with Jacobsen syndrome undergoing surgery; they
should not take common medicines that interfere with platelet
function, including ibuprofen; and they should be prescribed a
desmopressin/vasopressin nasal spray (Desmospray, DDAVP)
as this can speed clotting if heavy bleeding starts.

Heart conditions
Around half of Jacobsen syndrome babies are born with a heart
condition that may well need surgical repair. The most
common heart defects involve a hole between the two lower
chambers of the heart (ventricular septal defect, VSD) or
abnormalities on the left side of the heart (from which blood
travels around the body), frequently affecting the aorta, the
main artery leading from the heart. Hypoplastic left heart
syndrome, an underdevelopment of the chambers and valves on
the left side of the heart, is the most severe form. It is strongly
recommended that all babies with 11q terminal deletion
disorder should have a cardiac evaluation and be monitored
every three years as some less severe conditions can develop
over time.

Baby boys have an increased risk of being born with
undescended testicles (testes). If the testicles do not come
down naturally in time, they can be brought down and anchored in the scrotum with a
small surgical operation.

Pyloric stenosis
The risk of developing pyloric stenosis is much higher than in other babies. Babies with
pyloric stenosis vomit forcefully and repeatedly because of a narrowing or blockage at
the outlet from the stomach to the intestines. The condition tends to develop between
two and six weeks of age and requires immediate surgery.

Constipation has been found in almost half of children with 11q terminal deletion
disorder. Constipation is extremely common in babies and children with other
chromosome disorders and is likely to be due in part to low levels of activity. If the
remedies for other children (more fluid, more fibre, more exercise) are impractical,
prescribed medication is needed.

Eye disorders
The most common vision problems are an outward squint (strabismus) and either long
or short sight, both of which can be corrected. A very unusual finding in a small
minority of children is contorted blood vessels supplying the retina at the back of the
eye, but this does not affect eyesight and it is uncertain what it means. Some children
also have a ‘keyhole’ shape to the iris. This is called a coloboma, is a developmental
defect and so long as the inner structures of the eye are not involved does not affect

Infections and ear infections
Ear and sinus infections are very common, as they are in other children with
chromosome disorders. However, researchers have found no evidence that children
with Jacobsen syndrome have low levels of natural immunity and they should be
immunised at the same age as other children. The repeated infections may cause some
measure of temporary hearing loss and many children need grommets (ear tubes).
A few children will also have a degree of permanent hearing loss.

What little information exists suggests that puberty proceeds normally. Girls can have
particularly heavy periods as a result of their underlying bleeding disorder and families
should consult an endocrinologist.

As adults
There is little information available but it suggests that adults with 11q terminal deletion
disorder can lead happy, semi-independent, fulfilling and worthwhile lives. Unique has
members doing part-time voluntary and paid work in the community and living away
from their families in supported independent housing.

The American Journal of Medical Genetics volume 129A (2004) contains two important
articles for people who want more medical detail. The 11q Terminal Deletion
Disorder by PD Grossfeld et al is on pages 51- 61 and Endocrine Abnormalities in
Patients with Jacobsen (11q-) Syndrome by M Haghi et al is on pages 62- 63.

Support and Information

European Chromosome 11q Network
Comprehensive information in English, Dutch, German, French, Spanish, Italian and Danish

11q Net
The site for 11q Research and Resource, a US-based group for families affected by
chromosome 11 abnormalities
Chief Medical Advisor Paul Grossfeld, MD

Rare Chromosome Disorder Support Group,
PO Box 2189,
Surrey CR3 5GN,
Tel/fax: +44 (0) 1883 330766

This leaflet is not a substitute for personal medical advice. Families should consult a
medically qualified clinician in all matters relating to genetic diagnosis, management and
health. The information is believed to be the best available at the time of publication and
has been verified by Dr Paul Grossfeld, paediatric cardiologist, University of California and
by Professor Maj Hulten, Professor of Medical Genetics, University of Warwick, 2005.
Copyright © Unique 2005

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Korte fakta om Jacobsens syndrom

Jacobsens syndromPosted by Vera Rubicon Sat, March 14, 2009 00:19:41

- JS ble først oppdaget og utredet i 1973. I dag finnes det omkring 200 tilfeller.

- Det er kun 1 av 100.000 barn som blir født med dette syndromet.

- Omkring 55% av barna som blir født med Jacobsens syndrom har en alvorlig hjertefeil.

- Den vanligste dødsårsaken er blødninger og hjertefeil.

- JS kommer av at det mangler en del av kromosom par 11. Denne feieln oppstår allerede under celledelingen. Det er forskjellige nivå av hvor hardt man blir rammet utifra hvor mye av kromosom 11 som mangler.

- Det er omkring 75% jenter som får dette syndromet, så det er mindre vanlig hos gutter.

- Mange av de som har JS har også Paris-Trousseau syndrom. Dette betyr at man mangler blodplater og det er stor sjanse for blødninger.

- Det følger også med et karakteristisk utseende med øyne med bred avstand, stramme øyelokk som det kan være vanskelig å lukke helt, liten og bred nese med en kort nesestamme, tynn overleppe og lavtsittende ører.

- 90-95% får en missdannelse i hodeskallen. Dette kommer av at det ikke har grodd sammen skikkelig ved prematur alder. I en tredje del av tilfellene får barnet et mindre hode.

- I 75% av tilfellene blir barna små. Et nyfødt barn med JS er som regelt mindre enn andre barn. Det forekommer også vanskligheter ved å få disse barna til å spise skikkelig. dette kommer av at det kan være vanskelig å kordinere suging og svelging.

- Det forekommer stort sett en redusering av mentalitet hos disse syndrombarna. Men dette er det også grader av. Alt fra å henge litt etter til å ikke nålenger enn en mentalitet på et par år.

- Det kan forekomme muskelsvekkelse eller at barnet viser seg å være sterkere enn normalt. Motorikk og finmotorikk er spesielt utsatt.

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Linker til artikler om JS

Jacobsens syndromPosted by Vera Rubicon Fri, March 06, 2009 21:18:25

Her er det linker til forskjellige artikler om Jacobsens syndromet:

Cortneys article

The 11q Terminal Deletion Disorder

Sleep problems

Study of 110 cases

Ocular findings in Jacobsens syndrom

Paris-Trousseau syndrome

Endocrine abnormalities

Cardiac genes

Chromosomal microarray mapping suggest a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder

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Min sønn har Jacobsens syndrom

Jacobsens syndromPosted by Vera Rubicon Fri, March 06, 2009 20:51:34

Min sønn, Leon, ble født 10 uker for tidlig 9. desember 2008.
Han ble tatt med hastekeisersnitt etter at legen så at han ikke hadde fått noe særlig næring inne i magen de siste tre ukene.

Da han kom til verden hadde han allerede fått en hjerneblødning og blodplatene hans var faretruende lave.

Etter tre måneder på sykehus (Ahus) har han endelig fått en diagnose; Jacobsens syndrom. Dette er et svært sjeldent syndrom og legene ved Ahus hadde aldri hørt om dette syndromet før.

Det er bare 4 dager siden vi fikk denne beskjeden og jeg er desperat etter informasjon! Jeg er ute etter å finne andre foreldre med barn med dette syndromet og jeg vil tilrettelegge så godt jeg kan for at min sønn skal få det best mulig, derfor er info viktig!

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