Unique little girl!

[mayashekhina]

Stuck at the hospital all day today Ethan (beths twin) chose to get a chest infection so we had to get him some antibiotics. But on a good note- we had a really positive visit with the Plastic Surgeon and his team, there were speech pathologists, geneticist, orthodontal, eye specialist it was an impressive team, I will be seeing the neurologist next week and having a follow up ENT the week after.

Beth will be having further investigation tests (largely because of the unknowns her chromosome deletion has brought into the equation), she strikes them as an unusual case she doesnt fit neatly into any one category, though she does have a definite fused plate and flatness behind her ear the way her head has grown over the year suggests the bone is growing at different rates. They will monitor her over the next few months and deliberate very carefully amongst themselves before making any definite decisions. It may be possible that they could rectify some of her unusual fluid deposits in her brain at the same time- dont know alot about it but I was told the neurologist could tell me more.

She does have a sub mucous cleft and a "beautiful" bifid uvula (two dangly bits at back of mouth) which has helped explain why she has had so much trouble sucking- Im even keener to graduate her to a cup now.

The outcomes of the day have been really worthwhile, been loaded up with more appointments. Just worried now because she has a burst eardrum if its not one thing its another -always chasing the fires.

[Jennifer]

Oh my goodness, that was a ton of information you recieved! I'm glad they did a thorough exam and seem to really be making an effort to do the best possible route for Beth! Good luck at next weeks appointment. I hope Ethan feels better soon :hugg

[mayashekhina]

You know it was such a relief that they were asking as many questions as I was, I didnt end up needing my list of questions as it looks as if it is a bit too early.

I should also say here that there are other specialists involved who I made send reports to the PS so it has kept him informed of her progress all year, and he is also aware of the amount of hard work we have done to get her to where she is now so to know he is proceeding with caution is wonderful. I feel even more confidence that what ever the outcome it will be the right one for Betty.

[Satori]

How did they discover the submucous cleft? My little one can't suck to save her life and they have no real idea why. She does have a funky high palate (I actually took a picture it was so funky) but no clue on the uvula since her tongue is always in the way due to motor dysfunction.

[mayashekhina]

Betty had troubles feeding from the start, and was tube fed for the first 6 months. Speech pathologist had checked inside and tried to feel for a cleft but couldnt (I think betty could have been too small, she was only 1600grams born abt 3 & 1/2pounds). I only discovered the uvula by accident and then I showed everyone so I had my paed, dietician, speechie etc write letters to Dr Lewandowski (he also heads the cleft clinic being the craniofacial specialist) to investigate. He turned her upside down poked her mouth with his stick and confirmed a sub mucous cleft- she has a short palate (which is very high) and apparently is unable to use the muscle towards the back which will lead to speech problems. Another tell tale sign to look for though is if food or milk comes out of your babys nose on a regular basis during feed time or shortly after, then Id point it out to a speechie or pead who will make the necessary referral for further investigation.

[Jacksmum3]

Hi Racheal, would you like me to contact my Genetasist about Beths Deletion and tell him about her problems?
I would be glad to do so if you wish?
You never know he may come up with something.
Take care and yes you have got a really unique little girly xx

[mayashekhina]

Annmarie Thanx for the offer
But I dont think we need it, Beth is pretty much revealing everything we need to know as we go- and that is just what our geneticist had said she would do.

The nature of Beths condition is that it is not a syndrome as such, it is just an underlying cause of the complications she has developed, with a syndrome a doctor can pretty much predict the appropriate response and outcome. With a deletion its different no two children are the same they can have the same deletion but present with very different problems Beth I believe is the first to present with fused plates, combined with cardiac, and cleft. Which doesnt help us but does put doctors on the alert I spose to tread more carefully. That is probably the blessing of having a label- it makes doctors look twice and proceed with caution because a deletion does involve alot of unknowns.

Beths chromosome deletion was very easy to pick up but there are many more that are undetected, but with technology improving all the time it wont be long where they will be able to detect any unusual chromosome arrangement- some doctors maintain that detected or not unusual chromosome arrangements are usually behind the cause of anything that doesnt develope normally. Which is why I advocated so much for further investigation with Jack, though the label in the end wont make you love him any less it will be a good thing to have when dealing with other medical professionals. He'll get special attention-

Oh gosh I forgot to mention I have been involved with the hospitals so much now I know how to pull strings and jump cues (i know its spelt wrong way I just cant remember the right way), after waiting a couple of hours in emergency with ethan I made a call upstairs and we were the next to be seen we jumped past about 5 others one poor lady watched me go in tearily, I couldnt feel guilty though because I had to make it to my next appointment and every person who got there before me meant waiting another 1/2 hr -as it was I wasnt seen until 4.00pm for our 2.00pm appointment!

[mayashekhina]

I really should have known by now that things were sounding too good to be true, I had my neuro appointment yesterday and he hadnt even spoken to the Plastic surgeon I had to fill in the blanks as best I could but heck I cant speak on behalf of the Plastic Surgeon- Hes not recommending an MRI, there appears to be no concern with fluids in her brain-I wish theyd all get their stories straight over that because I get conflicting interpretations from every doctor I meet. Its all so frustrating-I have no time frame, Ive had non of my questions answered and I am really dumbfounded as to where any of this is supposed to be heading. With no follow up appointments and to be left in this way just makes me wish I can forget about the whole thing and get on with my life. They are supposed to be getting together at some time to discuss their plans, I am supposed to have a pre surgery interview with someone- surgery is supposed to be going ahead at some point but I am left in complete darkness as to all the details- I hate this so much, I really feel like we are being let down by incompetance and there is nothing I can do about it. Talk about being landed straight back into my initial insecurities with a bang. I fought so hard and so long to get here to be handled like this????

[Jacksmum3]

Oh Racheal I am so sorry the "Proffessionals" can't even make a competant desicion hey.
I assume the N/S an P/S are apart? I only ask this because where my little man had surgery they do all the assesments and clinics together.
So they come to a desicion together, there and then. In England they have four Supra Regional Centers. When you arrive you have in the room a P/S a N/S a genetasist, a person from ENT an Orphalmologist (sp?) pedi psychiatrist. And a clinical nurse specialist. They do all the tests there and then so no running around trying to get appointments and so on. I find this all works really well. So from all this I can only imagine what you are feeling because I have not had to go through it. If I were you I would get on the blower and speak to your P/S and demand he speaks to the N/S. Because another thing these guys have got to be communicating if they are going to be doing any surgery?
Any how I will give you some syber hugs (((((((((HUGS))))))))
How is the family coping with it all?
Take care Annmarie xx

[mayashekhina]

Thanx Annmarie

Well after getting over my initial anger and frustration I did then phone the nurses at complex care (the guys who helped us jump the queue at emergency the other time) and discuss things with them- they are going to grab Bettys file on Monday and book a follow up appointment with the Plastic Surgeon. The neurosurgeon was supposed to be there at that first meeting because that was the craniofacial clinic but for what ever reason he wasnt.