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.

New friends :)

EnglishPosted by Vera Rubicon Wed, October 14, 2009 08:05:00
What would I do withouth the internett??? I haven't been able to find no other families with Jacobsen syndrome in Norway, but thanks to internett I found families in other countreys!! smiley

It is so important that we stick together! This syndrome is so rare and there's a lack of information about this. I find it very nessesary to get some information and tips from other parents with Jacobsen syndrome.

I've just got to know a mother in Sweden who also got a child with JS. Her daughter is born exactly 1 month after my son Leon and she has some simulare problems. I'm so very thankfull for getting knowing her. We send long e-mails to eachother and she is helping me a lot just by being in the same situation. I'm so glad I found you Emina. smiley And its so easy to write to her beacuse she understand my Norwegian ;)

I'm also writing to Zuzana from Czech Republic and I'm very thankfull for getting to know her and her son to!

I'm hoping to get knowing more families and I think we'll only get stronger togheter! And mabye we meet someday? I know there's a Intertational conference for JS this october in Germany, but I found out to late to join this time.
I'm hoping to join the next time then! http://www.bazzo.net/index.asp


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Controll at the hospital

EnglishPosted by Vera Rubicon Tue, October 06, 2009 08:49:42
Leon is now 10 months old and yesterday we were at the hospital for å new controll. The last controll was 4 months ago.

The biggest problem at the moment is Leons low trombocytts. There was taken some new bloodsamples of Leon, but I havent got the results yet. The last results was at 68 for about 4-5 weeks ago. It took about one hour for his blood to coagulate after the needlesting yesterday, so I think his trombocytts are still low.

It seems like his hart and kidneys are fine, but I feel he should get some further examination. I dont want a unplesant surprise that indicate that there is someting wrong with his heart or someting like that.

We want to know what damages his brainbleeding has caused and if there is a possibility for CP. At this point we only know about his eyes. And that his nerves and sharpvition is damaged. There will not be taken an MR scan now and the doctor says that since he dont have any spastic movement, there is no reason to think that he should have CP.

We also talkt about when Leon should start in kindergarden. The doctor think that he could start one year from when he was expectet to get born, that meens about 1 march 2010.
I'm not sure that he's ready ( I'm sure not ready either) then and I feel it is more safe if we wait untill autumn 2010. it is also a lot of planning for the kindergarden before Leon can begin. Specially because he cant play with other children without a grownup who's watching all the time.
Leons low trombocytts doesn't allow rough playing and he will be needing a little more training and learning than other children. Leon also have problems with his seight and that's someting they have to consider in the kindergarden.

We did agree with the doctor that Leon should be trated like all other children and that he should get the same possibilitys. This has always been my intention, but its still nice to hear that the doctor looks at it the same way.

Leon has lost a little weight lately and he's been having some problems eating. We are still working with this, but he seems like he doen't want or like some food. The only thing he always wants to eat is fruit and youghurt. And he throws up if the food isn't smooth enough. It takes a lot of pations feeding him...

The next controll at the hospital is 6 months from now and then I hope Leon will get som further examination. And I hope I can get som more tips about what to look for about JS from other parents with JS children. This will be 6 months with reascherts...

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Leon

EnglishPosted by Vera Rubicon Sun, October 04, 2009 22:20:09
Here´s some information in English since there´s a lot of people looking at my blog who don´t understand Norwegian.

My son has Jacobsen Syndrome 11q24.1

He was born at 9 desember 2008 in pregnancy week 30. He was taken by surgery because he didn´t get enough nutrition. Leon was only 840 kilogram at birth.

Under the surgery Leon also got a bleeding in the brain and since his trombocytts was very low, there was danger for his life.

Leon did survive!! And we spent the next 4 months in the hospital. Leon needed blood and tromocytts every 2-3 days and there was times that the situation was critical.

Leon has short upper arms, thigts, finger, toes and neck. The doctores thought he maybe was a dwarf and they took a bloodsample of his cromosome. This is how they found out that Leon have Jacobsen Syndrome.

At this point, Leon has been home for 6 months and there hasn´t been any kind of infections or bleeding. The trombocytts is now at 68 and raising.

Leon has some problems with his eyes. He can only see at the right and he´s sharpvition and som nerves is destroyd because of his brain bleeding.

The only thing we can do now is wait and see and hopefully we will get some more answers when Leon is getting older and stronger.

Leon is our only child so we are a little family, but we hope someday that Leon will be someones bigbrother.

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Jacobsen Syndrome

EnglishPosted by Vera Rubicon Sun, October 04, 2009 21:14:12

Tekst from Uniqe-www.rarechromo.org
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
endocrinologist.

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
properly.

Learning
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

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).

Behaviour

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
behaviour.

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
muscles.
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.

Genitals
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
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
eyesight.

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.

Adolescence
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.

Reading
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
www.11q.org
Comprehensive information in English, Dutch, German, French, Spanish, Italian and Danish

11q Net
http://web.ukonline.co.uk/c.jones/11q/contents.htm
The site for 11q Research and Resource, a US-based group for families affected by
chromosome 11 abnormalities
Chief Medical Advisor Paul Grossfeld, MD
pdgmd@aol.com

Unique
Rare Chromosome Disorder Support Group,
PO Box 2189,
Caterham,
Surrey CR3 5GN,
UK
Tel/fax: +44 (0) 1883 330766
info@rarechromo.org
www.rarechromo.org

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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