Добрый день, Светлана. Я правильно поняла, Вам нужен перевод конкретно истории Eve Power: DOB 08/09/2007? Я могла бы перевести к завтрашнему дню, к сожалению, раньше не получится, слишком много работы на сегодня. Напишите адрес мейла на marikuna1@mail.ru , перешлю как только переведу. Марика

спасибо! да, мне особо интересна только эта история.
написала вам на мыло

выслала только что, mail.ru почему-то не срабатывает, выслала с yahoo.com

Интересная организация, жаль, что российского аналога нет.
Что-то я там не разобралась.
А там делеция 19q нигде не проскакивала случайно?

лифлета нет ни одного по 19 хромосоме
вот в старом ньюслеттере нашла, правда не делеция, а дубликация. но хоть что-то

Duplication (19)(q13.3qter)
Kyle Joseph Gilbert: DOB 15/01/2002
Ryan Michael Gilbert: DOB 21/08/2003
Cindy and Adam Gilbert,
854 Alena Way, Sparks, NV 89441, USA
Email: ziggymann@netzero.net
Our story began just over 6 years ago when
we found out I was pregnant with our first
child. In early August I had an abnormal
MSAFP test. I was referred to a specialist,
where we talked to a genetics counselor.
She talked about a slightly elevated count
of one of the results and mentioned Down
Syndrome. She also told us there was a
high chance of miscarriage with an
amniocentesis, so we declined the
amniocentesis and had a high level
ultrasound performed instead. The high
level ultrasound was repeated in late
September. We were told everything looked
good. By all other accounts my pregnancy
was normal and fairly easy up until late
December (36 weeks), when I began to
have elevated blood pressure that lasted for
about 3 weeks. I was approaching my due
date and had not had any labor pains at all.
My OBGYN thought the baby was big (at
least 7lb), so she wanted to induce labor on
January 16, 2002. On January 15, 2002, I
started having contractions and went to the
hospital. I was told that I was only 1 cm
dilated and that Kyle was in distress. She
said we needed to do a C-section. Kyle
weighed 5lbs 6oz and was 18 inches long.
He appeared to be a normal, healthy baby.
He had no physical abnormalities
whatsoever.

He reached his early milestones on time
– smiling, laughing and rolling over.
However, when he was about 6 months old,
we noticed his eyes started crossing. We
were somewhat concerned, but my parents
said I had crossed eyes for a while and then
they straightened out on their own. So, we
waited until he was 8 months old and then
we saw an ophthalmologist in Las Vegas,
NV. She prescribed glasses for him to see if
that would correct the crossing. After a
couple of months, she determined that the
glasses did not help and that Kyle would
need eye surgery for strabismus. At this
point, we sought a second opinion. We
were scared – our baby needed surgery!
After several visits with another
ophthalmologist, he concurred and we
scheduled the surgery for February 2003,
w w w. r a r e c h r o m o . o r g
P a g e 2 4
when Kyle was 13 months old. All went
well; however, Kyle’s right eye will start to
cross, unless he wears glasses. So, since the
surgery, Kyle has had to wear glasses.
During this time period, Kyle’s development
was delayed. He was not able to sit by
himself, crawl or walk and these skills
would not come for several more months.
Our pediatrician told us Kyle would qualify
for Early Intervention help. We were put on
waiting lists for appointments with speech,
occupational and physical therapists, as well
as a pediatrician at the Early Intervention
clinic. In the fall of 2003, therapists began
coming to the house either once a week or
once every 2 weeks.
Shortly before that, our second son, Ryan,
was born. He weighed 5lbs 7oz and was 18
inches long. I had some complications at
the end of my pregnancy, so about 2 weeks
before his due date, my doctor said it was
time to have the baby. Ryan had some
complications right after he was born. He
wouldn’t eat anything – either by breast or
bottle – and the doctors were concerned
about a sucking issue, a possible blockage
and possible surgery, so he spent 7 days in
the Neonatal ICU. After numerous tests
and many nervous days and nights for us, it
was determined that he did indeed have a
blockage – of meconium (baby’s first poop)
that he couldn’t pass on his own. After a
few days, he was doing great and he came
home at the end of August 2003. After that,
he ate quite well and gained weight.
Like his bother, Ryan reached his early
milestones on time, but sitting up, crawling
and walking were delayed. At 11 months,
Ryan had strabismus surgery, which was a
complete success – no glasses! Around this
same time, Ryan stopped eating his baby
food (cereal and fruit) and would only take
a bottle. We had to switch formulas,
because he was spitting up quite a bit. Ryan
started receiving Early Intervention services
at 13 months old. We had weekly visits
from speech, physical, occupational and
feeding therapists. Ryan also saw the
pediatrician at the Early Intervention clinic.
She recommended blood work, an
appointment with an endocrinologist and
made sure we were on the list to see the
geneticist, Dr Morris. We were told we had
a year’s wait, but thankfully there was a
cancellation in March 2005 and we got
the spot.
We did not get a diagnosis until Kyle was 3
and Ryan was 18 months! My husband and
I had blood tests run and it came back to
be me who had the balanced translocation.
It was a terrible shock to us, but we knew
something wasn’t right. We just couldn’t get
any doctors to listen to us. Then when
Ryan presented with the same issues, we
finally got someone to take notice and run
the correct blood work.
Kyle has severe delays in all areas: motor
skills, self-help skills, social skills and
communication. He is nonverbal. He has a
lot of sensory integration issues. He is a
very picky eater and has to be on a special
formula for extra calories. Since November
2006, he has had unexplained vomiting
2–3 times a month. Gastric emptying
studies are normal. In October 2007, he
had an upper endoscopy that showed
esophagitis (inflammation of the esophagus,
most likely from ongoing reflux). He has
been put on a combination of Reglan and
Prevacid and that seems to be working
quite well.

и вот еще одна история из ньюслеттера:
Inverted duplication
(19)(p13.11p13.13)de novo
Emily Rose Harris: DOB 3/08/1999
John and Donna Marie Harris
Email: domaha62@aol.com
Emily was born in
the breech position
at 32 weeks by
Caesarian section.
Her Apgar scores
were 6 and 8 with
mild respiratory
distress, weight 4lbs
6oz, her tone was
hypotonic, and she
presented with
hypothermia. She
was born with bilateral hip dysplasia and
put in hip harness (approximately 2 weeks
after birth). She had mild dysmorphic
features, with wide set eyes. Her
chromosome imbalance was detected prior
to her birth through amniocentesis, so she
was put in the special care unit at Boston
Children’s Hospital right after birth. She is
allergic to milk products and was put on
Prosobe formula. She did do well on this
but still kept spitting up. Later it was found
out that she had grade three reflux (GERD).
There she stayed until she was a month old.
Emily was always a very easy laid back
happy baby (she still is). She loves attention
and loves people. Emily appeared to be
developing typically, although she could not
sit up or roll because of her hips. Emily had
her hip surgery at 12 weeks old on the right
hip; the left went into the socket with the
hip harness and was put into a full body
spika cast after her surgery for 3 months.
So, again she was unable to meet those
newborn milestones. As the months past we
began to notice some changes. Emily didn’t
appear to be growing nor was she gaining
much weight. She also appeared to have
visual loss as well as hearing loss, and
seizure disorder. Her teeth came in very
very late. Emily was always sick with
bacterial or viral infection. She would just
be getting better from one infection to jump
right into another one within 2 week time.
Unfortunately even though we knew of
Emily’s chromosome imbalance since before
her birth, there is no one to compare Emily
to. There is no one to date in Boston
Children’s database with another case of her
exact chromosomal imbalance. So, it is
difficult for us, as well as her medical team,
to say what is due to her prematurity and
what is due to her chromosomal imbalance
or even what her life looks like for her. I
remember very clearly an appointment with
Emily’s geneticist; Emily at the time was
only 18 months old. The doctor looked at
my husband and I and said to us in a
matter of fact tone. “Do not expect much
from Emily, she will never walk, talk or be a
typical 18 year old”. I was devastated to say
the least. How could he be so insensitive

and try to tell us what Emily was going to
be like at any given age, especially knowing
that there wasn’t anybody to compare her
to. We don’t see that doctor any more!
Emily is now 8 years old. She has a great
sense of humor, beautiful smile, and
gorgeous hair. Emily is a very happy child
and knows she is loved. She can capture
anyone’s heart pretty quickly. She has a
very complex medical history. Some of her
medical issues are: small stature, visual loss,
hearing loss, global developmental delay,
PICA (which is a compulsion to eat
non eatables) and mixed tone
(Hypertonic/Hypotonic). She does walk
with a wide base gait. Emily used to walk
very well. Now she only can withstand
short distances. Her tone fluctuates. She
does talk single word utterances, but not all
are clearly pronounced or understood.
Emily has scoliosis, significant bone loss,
Hashimoto’s Thyroiditis, Pervasive
Developmental Delay (a form of Autism),
Sensory Integration Disorder, immune
deficiency. Emily has no safety awareness
and is still not toilet trained. Emily also
does not sleep through the night. She has
behavioral issues and many environmental
allergies, as well as food allergies. She has
high anxiety and mental retardation. Given
Emily’s complex medical history she has
come a long way. She has come much
further along than any of her medical team
would have ever expected! She is still a
medical wonder. Emily is a very determined
child, and loves to be praised. Emily loves
to learn and adores her younger sister Kate,
who is also special needs. She is very
protective of her. Yes, we have our hands
full but we wouldn’t want it any other way.

Ух-ты! Спасибо. К себе утащила. Буду на досуге со словарём сидеть :)
Эх, надо учить языки.
Спасибо!
Нам говорили, что это редкая вещь.

Если я правильно поняла какая Ева (Eva Power), то там синдром Веста, диагностированный в 9 месяцев. И развитие, остановившееся на 7 месяцах (сейчас девочке 16). Судороги, которые все равно продолжаются, не смотря на лекарства...

про веста увидела - и это особо меня заинтересовало, у Вани тоже Вест. а еще я увидела слова астма - тоже интересно, у нас же БЛД - течение болезни схожее, так что буду ждать завьра перевод, чтобы узнать все ч подробностях

Там как раз с подробностями почти никак. Про астму написано только, что диагностировали после пневмонии. Половина описания о том, как мама была беременной, как почти все было хорошо (кроме размера головы ребенка на узи и чуть более редкого сердцебиения). Потом отошли воды с меконием, она поехала рожать, ЧСС стала падать, ее экстренно прокесарили... а дальше до 6 месяцев они думали, что с ребенком все в порядке. То есть их удивляли какие-то моменты, но врач говорил, что не о чем беспокоиться. И только когда судороги стали чаще и они засняли их на видео, им поставили Веста. К тому времени она стала терять навыки, которые у нее уже были - хлопанье в ладоши и махание до свидания. Сейчас она может сидеть без поддержки, но во время судороги падает назад и не делает попыток подняться. А вообще родители там просят, чтобы им как раз помогли с информацией про похожих детей, потому что они только начинают этот свой путь. И не очень в курсе, что бывает и как...

что характерно, я ж им могу написать нашу историю, ее тоже опубликуют. только вот опять же нужен перевод

Может, кто-то может помочь с переводом? К сожалению, я не рискну предлагать свои услуги, потому что у меня с переводом на английский гораздо хуже, чем обратно...

Света, я могу перевести на английский, только понадобится Ваша помощь для перевода специальных медицинских терминов - тут у меня пробел. Только вот срочность перевода не гарантирую, дома никакой возможности, ни секунды свободной, на работе буду потихоньку переводить... Историю можете переслать мне на мыло.

спасибо! я не думаю, что перевод к спеху. задумаюсь над написанием русского текста

Могу перевести к послезавтра, насколько срочно?

спасибо, мне уже пообещали перевести к завтра

Во-первых девочке не 16, там есть ее дата рождения - сентябрь 2007 года. Света, а мне еще не пришел журнал:)

в смысле, 16 месяцев