Re: Does he have the RSS look?

September 17, 2004

Hi Cheryl-

I think he does have the " RSS " look. My son will be 8 mos old on

Sunday and he eats like a machine also. He is well below the 3% line

for weight but head size is in the " normal " range. If you want to

compare pics look in the file under Isaac. Good Luck and give us

updates!

Take Care-

Mimi

mom to Isaac (RSS, Hypothyroid, 8 mos 11# 6 oz)

September 17, 2004

Cherly,

First of all Landen is absolutely too cute for words! ) Secondly,

I think he has the RSS look as well. Especially in that first

picture.

My son is and he is 2 years and almost 4 months old. He is on

the more severe side of the RSS spectrum. He has a feeding tube and

struggles to gain weight even on that. We have also finally just

confirmed he has reflux and is aspirating! UGH.

What is the deal with Landen as far as a diagnosis? I mean, has one

of his docotrs mentioned this to you, or are you coming up with this

on your own based on research? We would love to hear a little more

about him if you are wiling to share. is trying to help me

type, so I guess I am done! )

Take care and welcome to the group,

Jodi R.

, 18 lbs. 14 oz., j tube, prilosec

> I've posted some pictures of our little guy, Landen who is now 13

> months old. We are in the beginning stages of a possible RSS

> diagnoses. I know your input is subjective, but very valuable!!!

If

> anyone has time, please check out the pics posted under " Landen "

and

> give me your thots? What do you think? Does he have the " RSS

> Look? " He is in the 3rd% for weight and 95% for head size. He has

> been wearing the same clothes (6-9mo) since March! And he eats like

a

> machine! His most significant issue right now is low muscle

tone.

> We will have some testing done (through our geneticist) in October-

> bone scan, ultrasound on stomach/liver, bloodwork-and hope to have

> some more answers then. Thanks for all your initial feedback when

I

> posted about a month ago. You all are so encouraging!

> Cheryl

September 17, 2004

Cheryl - I am sorry to be the " bad apple " among the people who have

posted so far, but I would say your son does not have the typical

RSS look. However, he has some of the looks -- he definitely has

the larger head, and he has the bossed forehead. But he does not

appear to have a triangular shaped face at all, it is hard to tell

but it doesn't look like his ears are posteriorly rotated or low-set.

However, that being said, he may be matUPD7 RSS, and those 10% kids

have a different facial look, usually more squarish and boxy like

his.

What was his birth weight and birth length, as well as his

gestational age? Why is the doctor going to do a ultrasound of his

stomach and liver? Is he having any other symptoms which would

cause the doctor to order these ultrasounds? Has his weight and

length pretty much followed along the same curve as it was when he

was born, or has he fallen off either or both curves?

If you give me some more info, I can try and help you. I absolutely

feel for you. Although some parents are lucky enough to get a

diagnosis (whatever the diagnosis is) pretty quickly, most of us go

through a painful ordeal in the search for " why our child isn't

growing. "

Let me know the answers to the questions, and I will do everything I

can to help. Salem (mom to , co-division consultant

for MAGIC's RSS/SGA division)

> I've posted some pictures of our little guy, Landen who is now 13

> months old. We are in the beginning stages of a possible RSS

> diagnoses. I know your input is subjective, but very valuable!!!

If

> anyone has time, please check out the pics posted under " Landen "

and

> give me your thots? What do you think? Does he have the " RSS

> Look? " He is in the 3rd% for weight and 95% for head size. He

has

> been wearing the same clothes (6-9mo) since March! And he eats

like a

> machine! His most significant issue right now is low muscle

tone.

> We will have some testing done (through our geneticist) in October-

> bone scan, ultrasound on stomach/liver, bloodwork-and hope to have

> some more answers then. Thanks for all your initial feedback when

I

> posted about a month ago. You all are so encouraging!

> Cheryl

September 17, 2004

and all,

Here is Landen's " long " story . . . Landen was born at 38wks

gestation and weighed 7lb4oz. Prenatally, there were no concerns in

his growth and the only problem experienced was a car accident when I

was 7 months pregnant. We were rear-ended by a semi in Chicago on

the freeway. I had one huge contraction and then continued to have

labor type (but not labor inducing) contractions until he was born

which was about 10 weeks later. His birth was a normal vaginal non-

medicated delivery with no incidence. At about 2 weeks of age, we

noticed a significant lump on the top right front of his skull.

Within 1 month, it seemed to get bigger and bigger and the opposite

side on the back of his skull completely flattened out. After seeing

several doctors, he was diagnosed with torticollis (short neck

muscle) that was supposedly not allowing his head to turn to the

right and therefore cause the flattening of the skull as well as the

lump on the front. He wore a cranial moulding helmet for about 3

months which did a beautiful job of correcting the skull shape. The

neurosurgeon did comment that his ears were rotated and that there

was some assymetry with his ears and cheekbones. He said that this

was caused by the " occipital plagiocephaly " (flattened skull) and

would never be corrected. At that time, we also really began

observing that he did not use his right side much at all and rarely

looked to his right. We had a Physical Therapy evaluation done and

found out that he was 2-3 months behind in his gross motor skills and

the therapist encouraged us to seek a diagnosis for his obvious low

muscle tone. We then went to a neurologist who diagnosed him with

hypotonia and ordered a slew of tests to look for any neurological

damage that may have been caused pre or postnatally. His MRI came

back normal as did all of the muscular dystrophy bloodwork and tests

for other neurologically based disorders. We will have another MRI

done next month b/c the neurologist says that the water content on

the brain changes dramatically after 1 yr of age and neurological

damage can sometimes be noted more clearly then. She, along with his

OT and PT, recommended that we see a geneticist. So in August, we

met with a geneticist who was very thorough with her interview with

us as well as the examination of Landen. She said that RSS is a

possible diagnosis. She based this on his head size and shape, his

low muscle tone, his 4-5 cafe au lait spots on his body, and his

small body. She also felt that his liver was somewhat enlarged and

positioned a little " high " . She wants to do an abdominal

hepatomegaly ultrasound to see if that is the case. She mentioned

that may have to do with RSS, but I have not found any info that

states enlarged or high positioned liver as a characteristic. She is

also going to do a bone scan and the uniparental disomy. She also

ordered a neurofibromatosis, subtelomere fish, peroxisomal screen,

ALT, and AST. I am in the process of researching what each of these

tests look for. This is the one my husband and I have done, too. So

in Ocotber, we will meet with both the geneticist and neurologist to

go over test results. As far as Landen's height/weight/head

circ . . . He has been in the 10-25th% since he was born, but at

about 10 mo, he has not grown much and I think if I understand the

growth curve correctly, I could say that he has fallen off the chart

for his weight. At this time he is still on the 50% for his height.

His head size has always been 90-95%. So this is why we feel we are

at the beginning stages of a diagnosis. We are also not ruling out a

prenatal trauma due to the car accident that may have caused lack of

oxygen, which would explain the low muscle tone. Thankfully,

cognitively and behaviorally, Landen is in the normal range.

Presently, Landen receives 2 hrs of PT/week and 2 hrs OT/month. He

is wearing prism-lensed glasses for low muscle tone in his eyes which

was prescribed by a developmental optometrist. He just got fitted

this week for SMO's(ankle braces) to support his ankle and foot

muscle to encourage weight bearing and hopefully walking. Our big

concerns are his low muscle tone and his recent lack of growth. If I

understand correctly from reading some of the RSS posts, it seems

that it can be typical for growth to stop at about this age. I guess

I don't want to be " borrowing trouble " by thinking that he has RSS

when he doesn't, but I also don't want to miss an intervention that

we could be doing.

As you can see, this has been a long road and I'm sorry for the

length of this post. I hesitated after my initial post about 1 month

ago to expand, because it seemed like such a long story to share.

Thanks for taking the time to read this and any input you may have!

Cheryl

> > I've posted some pictures of our little guy, Landen who is now 13

> > months old. We are in the beginning stages of a possible RSS

> > diagnoses. I know your input is subjective, but very

valuable!!!

> If

> > anyone has time, please check out the pics posted under " Landen "

> and

> > give me your thots? What do you think? Does he have the " RSS

> > Look? " He is in the 3rd% for weight and 95% for head size. He

> has

> > been wearing the same clothes (6-9mo) since March! And he eats

> like a

> > machine! His most significant issue right now is low muscle

> tone.

> > We will have some testing done (through our geneticist) in

October-

> > bone scan, ultrasound on stomach/liver, bloodwork-and hope to

have

> > some more answers then. Thanks for all your initial feedback

when

> I

> > posted about a month ago. You all are so encouraging!

> > Cheryl

September 18, 2004

Hi Cheryl

Wow you have been through a lot! I am not sure how old your son is, but I'm

guessing less than a year. You can correct me if I'm wrong.

I wanted to tell you about a friend of mine. Her granddaughter had all of

what you described in the beginning of your email.

She had all the head issues, not using the right side etc. etc. She wore the

helmut and had all the tests. She has not had any growth issues though, and

no hypotonia has been a concern. But I wanted to tell you (her mom by the

way, did not have any accidents)........that this little girl is 4 years old

now and just started kindergarten. She is as bright as a button, in fact she