--- In noonan_support@yahoogroups.com, "jenni_vandeyk"
<jellybean@...> wrote:
>
> Hello everyone,
>
> My name is Jenni and I am new to the group. I have an 11 month
old
> son (Lachlan) who last week has been diagnosed with NS. I would
> love to introduce myself and Lachy to the group and provide a
> history of what we have been through until his recent diagnosis.
It
> may be a tad long and I apologise for that but I am after as much
> help and information as I can get at this stage, so the more info
I
> can give you, the more you may be able to help me :)
>
> Lachy was first diagnosed with problems in utero, beginning at my
20
> week ultrasound. That ultrasound showed excessive amniotic fluid
> and that his kidneys and liver were enlarged. We were referred to
> the Fetal Medicine Unit at our local hospital here in Canberra,
> Australia and the remainder of my pregnancy was closely observed
and
> many a scan was done - all with different outcomes for every
scan.
> From the first scan right up until the last they had thought he
had
> 3 different syndromes, just to dismiss that possibility at the
next
> scan. Lachy was also thought to have Beckwith Weidemann Syndrome
as
> the most likely cause. This was again pretty much ruled out and
the
> final diagnosis they reached was that his Ductus Venosis Valve was
> either blocked or not working. He was having his 2 daily heart
> monitor checks towards the end of my pregnancy because he had
> started collecting fluid around his heart and lungs and they
wanted
> to induce me before he went into cardiac failure. My waters broke
a
> week before they planned to induce me but they induced me 2 days
> later due to risk of infection. When Lachlan was born he was
> already in full heart failure and respiratory distress. He was
not
> breathing and had to be ventilated - I didnt even get a cuddle
> before he was whisked away. He spent the next 3 weeks in
intensive
> care before he was allowed home under close monitoring. He failed
> to thrive initially on the breast but then picked up a bit once he
> went on to formula through the bottle. We left the hospital with
> the genetesist wanting to see him again at 6 months of age to
review
> him again, but confirmed he did NOT have BWS (Beckwith
Weidemann).
> He was sent home and we were told he had no major heart defects
they
> could see but still wanted him followed up with the cardiologist.
> When Lachlan was 3 months old he saw the cardiologist and was
> diagnosed with a narrowing of his pulmonary artery and a vsd (hole
> in the heart). He went back 3 months later for further review and
we
> were told at this visit that he now requires surgery on his heart,
> which we expect should be sometime within the first half of this
> year (endless calls to the hospital but administrative work always
> holds things up).
>
> We unfortunately could not attend his first follow up visit with
the
> geneticist at 6 months and have just had a visit with her last
> week. She said later in the visit, once she diagnosed NS, that
she
> knew as soon as we walked in the door, just from his features,
that
> he had NS. When I went on to tell her about Lachlans heart
> diagnosis, the fact that he has an inguinal hernia, undescended
> testes etc, all the parts of the puzzle really fell into place for
> her. Along with the above characteristics of the syndrome, he
also
> has the fat pads on his fingertips, short hairline, simmean
creases,
> droopy eyes, low set ears, striking blue eyes, curly hair, severe
> chest deformity, short neck, large broad forehead, etc etc. She
> said genetic testing can be expensive but that she was SO
convinced
> he had NS that she wouldnt think it even necessary to have the
> genetic testing done unless something else happened along the
line.
> We also saw an orthopaedic surgeon in Sydney a few weeks ago
> because, before he was diagnosed last week, Lachlan had developed
a
> major chest deformity. He had full spinal xrays which showed what
> the radiologist thought to be mild infantile scoliosis with a
cobbs
> angle of 9 degrees. The surgeon looked at the xrays and didnt
think
> that the small curvature he had was enough to diagnose scoliosis,
> and that sometimes chests can just grow "wrong" as in Lachlans
> case. I came away from that visit feeling unsatisfied at his
> diagnosis and wanting more answers as to WHY his chest was
> malformed. Then, like seeing a light at the end of the tunnel we
> saw the geneticist and it all fell into place.
>
> What a relief it was for me for him to be officially diagnosed.
> Having the last 11 months with no one being able to give us any
> answers as to why he has all these problems, I could have hugged
> her. I have been doing a lot of reading and research myself, as
she
> has not sent me the info she said she would on NS yet.
>
> Lachlan also suffers severe sweating and claminess during sleep
and
> whilst awake, worse when it is really hot here (summer at the
> moment). He still likes to be swaddled to get to sleep initially
> and can wake up with his sheet almost saturated he sweats that
much.
>
> Lachlan seems to be doing "ok" in terms of development at this
> stage. At 11 months he has just started holding his own bottle,
had
> his first two teeth come through last month, can sit up by himself
> but just not get himself into that position or out of it yet, he
is
> pulling himself commando style along the floor and moving around
the
> house with ease (although lots of carpet burn and bruises on his
> chest from it lol) and he is also saying basic words like 'dad'
> and 'nan' and 'bub'. His weight gain is poor though and he has
> always been on the lower end of the scale in terms of his weight
(he
> currently weighs in at just over 8kg).
>
> We were under the care of a paediatrician initially when Lachlan
> left the hospital but apart from his hernia and heart, the
> paediatrician was happy for our gp to follow his progress and keep
> an eye on him. We know now from the geneticist that he is again
to
> go under the care of his Paediatrician and she explained to us
that
> Lachlan may have developmental and/or learning difficulties when
he
> gets older etc, and also explained there can be some problems with
> bleeding, so she is writing up a report to all his surgeons and
> specialists to make them aware that he has NS now. I am so
relieved
> that this was picked up before his heart surgery, but in a way,
now
> knowing all I do about NS, am a tad scared of any complications
that
> may arise.
>
> There is so much more to tell, so much more detail and info I can
> put in, but I think I have made this long enough for now and hope
> that the info I provided is enough for you wonderful people out
> there to maybe give me some insight into what I can expect from
here
> on, or what you went through yourselves when your child was 12
> months or younger.
>
> Is NS something that affects children more as they develop and
grow
> or is it something along the lines that if he was going to have
> major problems like that, that we would see signs of them already?
>
> I know I am asking a lot but I also want to be well informed. I
> have found things out from self researching more than I have from
> any medical professional and know what to arm myself with and what
> to double question on when we see any medical people now.
>
> One other thing, neither myself nor my partner seem to have any
> signs of NS, and either do any of my other children (11, 7 and 6
> years old). I do though have a platelet disorder, which no one
has
> every studied in depth enough to diagnose. I get a purpuric rash
> from it at times (pin prick bruising) but apart from that, no
other
> obvious NS signs.
>
> Thank you to all of those who have taken the time to read this and
I
> look forward to getting to know the group as things progress.
>
> Jenni (Mum to Lachlan 11 months NS, Lauren 11, Scarlett 7 and
Haydon
> 6).
>