First day in school

It's Tara's first day in primary school tomorrow. I have really tried not to project my own anxiety onto her, so G will take her in the morning. She is excited about her new lunch box, that's the only thing she keeps on talking about. I don't think she fully understands that she won't go to creche again, but then words like "never" don't make any sense at the age of 4.

Darling Tara, fiercely independent, yet gentle to the core. A second mommy to Fiona. Incredible at gross motor skills and social skills really crap at speaking. I have no idea how well she will do academically, my only expectation of the school is to not make her hate learning and reduce her confidence, if those 2 things are accomplished, we will be fine. Oh and she does not have a bad bone in her body, she sure doesn't get that from her bitchy mammy, but I hope school won't change that either...

Pre-natal diagnosis 1

The link below is a MUST read for anyone who is expecting a baby and is told that the child would have a skeletal dysplasia, and the severity could be mild to lethal, we were told this at 35 weeks.

Now I know that fetal medicine doctors who have very little idea of dwarfism and where there are no protocols in the hospital to involve a specialist, do frequently say this to patients... It is so wrong on so many levels.

I don't think there is anything more frightening than this sentence being thrown at you, " could be mild to lethal and everything in between, get ready you will have to give birth in a few weeks, good bye..."

This sentence was the one that started me on my research jag, I have faith in science and knew that the answer had to be available you just had to search for it long and hard and I was right...

Just by reviewing this file, we knew that Fi would most likely have achondroplasia or hypochondroplasia. And the amazing Dr Jeanty just looked at the scans and said that it wasn't achon, but it would be most likely, nothing at all or hypo or something very rare, but he didn't think that.... When I spoke/e-mailed with him, I felt like talking to God, he is the man who authored many of the limb measurements that are programmed into the ultrasound machines... When I asked him how he knew that she would have hypo, his answer was classic: "Just a feeling, I suppose the last bit of art in medicine..." Long live Dr. Jeanty!!!!

http://www.sonoworld.com/Client/Fetus/files/skeletal_eng.pdf

Death and the Maiden...

Polanski's movie is one of my all time favorites but I just used the subject line...

Tara is 4 and a half, she is just starting to understand about death and aging, etc. She asked me the other day:
-Mammy when I will be old and when I will die, will you and daddy hold my hand?
And I just said: - Yes honey, mummy and daddy will hold your hand, but that won't be a long time yet. You will first grow up, go to the yellow school, go to the brown school, go to college, get married have children and grandchildren...
I hope that was the right answer for the right level of maturity...

There will be no MRI...

Before we had a diagnosis, when there was doubt whether  Fi had achondroplasia or hypo I asked our pead to get a CT scan done, based on Dr. Pauli's instructions. For achon it's important to get a baseline to see the amount of fluid and the foramen magnum. A CT is better than an MRI because although it involves radiation, it is quicker, they can do it without sedation and there is a chart about foramen magnum size, this doesn't exist when the imaging is done using an MRI.

 When we found that that she has hypo, these instructions changed: no need to do a CT unless HC is off the average chart, which isn't the case for now anyhow.

Our pead nevertheless referred us to an MRI last month, needless to say up to today we didn't even get an appointment and I have decided that unless her HC is off the chart there will be no MRI. I will not starve this child for 8 hours and have her put under general anesthesia for something she doesn't need. I think she will have plenty of procedures in her lifetime, so we will hold off this one.

Also, if they find some brain abnormality I would just worry myself to death about what that implies in terms of learning difficulties, cognitive issues, etc. And if they told me that everything is fine, I wouldn't believe completely anyhow, since the same doctors told us that the X-rays were all clear... So I guess it's not even about not wanting to know, it is about not wanting to do something that will tell us nothing for sure...

Body proportions

I am now fascinated by body proportions, I guess it has never occurred to me before how these change throughout childhood, I would have just said, "yea babies are all head when they are born and then that changes".... To be perfectly honest, I don't even know what the HC was of my other 2 kids, I am sure it was measured at the hospital, but it was never measured again and I certainly didn't take note of it. 

The length of my kids has never been measured either except at birth, I always just know what size clothes to get them when they are about to outgrow the previous set...


Anyhow, here is a little bit of what I have found out over the last few weeks.... 


The average length of a baby at birth, however, is 20 to 21 inches (50-53 cm). Most infants reach 1 ½ times their birth lengths (adding 9 to 10 inches) during the first year. 


Babies usually double their birthweight in four or five months and triple their birthweight by one year. - This I did know I have always been compulsive about weighing all my kids, to be more precise breastfed babies typically weight anywhere between 2.5 times to 3 times their bw by the age of 1. 

Now to the proportions.... Infants do not look like small adults.Their body proportions (relative size

of body parts) differ from those of adults. For example, an infant’s head is about one-fourth his or her total

length, while an adult’s head is one tenth of his or her total height (more like one eight according to some sites...). Unlike adults, the forehead of an infant is wider than the chin. 

From birth until six months, the infant’s head is larger than the chest. In most six-month-old children, the

chest becomes larger. The difference in the distance around the chest as compared to distance around the head continues to increase with age.

Besides having a large head, an infant has a long trunk, a “pot-bellied” abdomen, and short legs. The gain in

length during the first year is because the trunk grows. The legs do not grow much longer at this time. (I am not sure how true that is for Fiona, I have been measuring her legs and they certainly grew quite a bit).


The abdomen sticks out because the internal organs are large for the baby’s small body. Because the center of gravity is high on the baby’s body, the result is poor balance. No wonder babies toddle rather than walk!

At birth, the average infant weighs about seven pounds and is about 20 inches long. He will measure 24 inches three months later. By his first birthday he will typically be 30 inches in height, and by age two, 35 inches. An average girl will attain half her adult height before her second birthday. 
Target height for leg lengthening is the (fathers height + mothers height) divided by 2 and then - 7 which is 162 cm for Fi. This is the way a girl's projected height is calculated, I think it's plus/minus 7 or 8; of course our height is not determined by our parents' height to the last cm since then all siblings of the same sex would be the same height...

The different parts ol the body do not grow at the same rate, or at the same time. Instead, the head develops first, the torso next, and the limbs last. At birth a baby's head is about 25% of of the total body length, or about 60% of its adult size An adults head is normally less than 15% of the total body length. 


I never realized either that most of the head growth occurs by the age of 2, it is mind blowing if you think about it...

The torso develops next and is about one-half of its total length by the end of the second year. 
The legs and arms grow rapidly from the second year to the fourth year, at which time they are about one-halt their adult size. - I guess this explains why hypo is noticed by this time if not before... 


This progressive growth rate (head, trunk. legs) is called cephalocaudal development.

An infant's behavior, as well as body proportion reflects a cephalocaudal, head-to-trunk, direction of development. An infant's earliest and best organized behavior is the nursing or sucking response, which is a behavioral illustration of the fact that the head has the earliest growth increase . However, the sucking response is instinctive. The child s first purposeful behavior stems from the shoulder and pelvic girdles. The infant controls his head before his neck, his neck before his shoulders, and his shoulders before his trunk it is later in infancy that effective movements appear at the elbows, wrists, knees, and ankles.

"Wouldn't it be nice..."

It's strangely comforting to be writing a blog that noone might ever read, or whoever reads it, will understand what we are going through since they might have had the same feelings.

Fi has changed so much over the last few days, she is really chatty and is cooing and smiling at all of us all the time. I looked at my blogs to check what I was up to when the other 2 girls were this age. With Tara we were still struggling with her breastfeeding and just generally not knowing how to handle an infant... I don't think I would have held her for hours and chatted to her.
I guess with Lia it was all about worrying how Tara took to her, pretty unfair I know, but this is what my blog review is telling me...
Ironically enough I think we are enjoying Fi the most, because I think she might need early intervention I am doing way more singing and playing with her than I would have done with the others as a result she is a lot more interactive... Even my husband made a comment yesterday, he was enjoying her and then just turned to me and said " Wouldn't it be nice if everything was OK with her?"
That sentence really broke my heart, G is not a man of many words, his emotions run deep and are not expressed though words, he is an IT engineer, a runner, a swimmer... he internalizes things and then pumps up some adrenalin to get rid of the negative thoughts, for him to even say those few words talks about a lot of heartache that no adrenalin gush could wash clean.
And it is exactly the same way I feel... Fi is so cute, pretty, interactive, but the joy in admiring her is never complete yet, the pain about her having this stigma is always there.
I wonder when that will go, I guess as she grows and her personality enfolds we will see more of her as opposed to the physical characteristics of her condition.
Noone would know that there is anything wrong with her for now, unless they are a geneticist, not even a pediatrician could see it... I of course know the little signs that give it away. Often I will be looking at the little line where her forehead is, it is alien to me, I know it shouldn't be there, but when she smiles at me and looks in my eyes, I can't see that line anymore, it's only Fiona who I see and that is my hope.

Measurements

I will just update this every month... useful for me and I know others are always very keen to find out how kids with hypo are growing.


Newborn:
Weight 2690 g
Length 45 cm
HC: 34.5 cm

at 20 days old whatever that is

Weight 3260 g
Length 49 cm
HC: 37 cm


at 8 weeks

Weight 4300 g
Length 53.5 cm
HC: 39 cm

at 3 months
Weight 5270 g (25th percentile)
Length 56 cm (3rd percentile)
HC: 41.7 (97th percentile)

at nearly 5 months
Weight: 6060 g
Length: 58.5 cm (almost at 3rd)
HC: 43.7 (97th)

If I was a radiologist...

If I was a pediatric radiologist, who had sent a woman home with a 3 day old baby assuring her that her child didn't have achondroplasia or hypochondroplasia, telling her that the x-rays were all clear, I think I would want to see the list of radiology findings (if offered to me by the mother) that another specialist could list based on the same x-rays I have reviewed...
I think I would try to get over my pride and my desire to learn from my mistake would be greater than my ego...

Sadly the radiologist where Fi was born doesn't think like me, so only God knows how many children will go un-diagnosed, because they don't have a pathologically information hungry mother who sends their baby's X-rays to the one of the best experts in the world...

My middle child

This is Lia. She is our second daughter and thus the one I am most worried about right now. Arriving of a new sibling is never easy for the older kids, it is especially not easy when you are 2.5 and going through the terrible twos. It's even harder when you are a real mammy's girl and were breastfeeding up until a few weeks ago... I guess starting creche (though she has been begging for it for months) was not a good idea either.

I am not sure how much of the drama before and shortly after Fi's birth the girls understood, I am sure they noticed that we were a lot more impatient. I remember Tara kept saying for days that "something was in her eyes, that is why she kept crying", I must have said that a few times for her to remember.
I guess things have calmed down a lot now, we are almost back to our old selves, but now, the problem is that often I can't attend to Lia when she wants me (which is nearly all the time) and I can't go with them when G takes them out, we can't use a sling for Fi as she can't support her head yet and she would just scream her head off in the stroller. I can't wait to be able to carry her everywhere and have 2 hands free for the other 2.

What is Lia like, she is a real mini-me, that is why she can annoy me a lot more than Tara at times, she not only hold the mirror any child would to a parent, but she shows me how much fun it can be to live with me at times.
She is curious and witty, she is the type of child that you can't be mad at, because she will say something that will have you in stitches. Her speech is insanely good, she lisps, but her vocabulary and grammar is better than her 4.5 year old sister's. She is very affectionate, when she is upset or tired, her cure always is to be in our arms.
She is very sweet to all other kids, but fights like a woman possessed with Tara, I guess this is what sisters do, but I must admit, I find it quite tiring, I am sure it will be better in like 10 years...
We always wanted to have 4 kids, 3 is a lonely number for someone, and I think that tends to be the middle child, but I am almost certain that I couldn't face another pregnancy, so we might have to stick with the lonely number and just work on the loneliness part...

Visit with the orthopedic surgeon

We went to see the local orthopedic surgeon who does limb lengthening here. I don't think we would want to have the surgery here, as they can't possibly have as much experience as the US centres of excellence, but we had an opportunity to see him and I wanted to hear what he had to say.

 Similarly to Dr Paley he said the best age to have the first surgery would be between the age of 8-9. I won't go into the different methodology he uses and neither did he at this stage. But there was one interesting thing that he said, I guess my primary concern would be the pain involved (and of course the potential complications), whereas in his view the pain is controllable. He said that the hardest part was having to put the whole family's life on hold for months after the surgery. He also confirmed what I suspected, that everyone will have complications, which I guess reaffirms my feeling about wanting to go to  specialized centre...

Developmental milestones 0-2 months

I thought I would document these, they are fun for us to remember and could be helpful for others whose kids have hypo.

There is no dev milestone chart for kids with hypo, I am guessing that their development is somewhere between that of average height kids and of children with achondroplasia.

There is a special chart for achondroplasia which might be helpful.

OK, so what can Fi do at nearly 11 weeks:
- she can smile - she started at about 5 weeks
- she can chuckle softly (not a real loud laugh yet, more like a giggle) - started at about 8 weeks
- she can turn her head from side to side - started at 8 weeks
- she "plays" with her playgym toys -if she is in the mood, she started trying to hit them at about 6 weeks
- she can track a toy with her eyes when interested, but she won't turn her head towards it, only slightly, she tracks really well up and down
- she can recognize her favorite song - I kid you not, there is one tune that never fails to make her smile
- she can say "awwwa" and gurgle
- she can roll over from her tummy - she did this tons of times, but I guess the size of her head may help a little bit, but it is deffo intentional and she does need to rock herself over - since about 8 weeks
- she can push herself up on her tummy and hold her head for like a minute
- she recognizes the different family members and responds appropriately, she loves me and Tara most, Tara's voice seems to sooth her a lot. She also recognizes Lia and is scared to death each time - Lia loves Fi and as any 2 year old would, she expresses it with lots of unwanted hugs and kisses, she is also very loud so that doesn't help either. She loves her daddy a lot, her favorite pastime is chilling out on G's chest.
- She knows when I am about to feed her, she looks at my breast as if I was a grilled chicken or something...

What she seems slower at:
- she has quite good head control, but I am almost certain that the other 2 would have had nearly full head control by this age,
- turning her head side to side when lying down - she can do it, but is not turning as much as I would expect at this age, I am putting it down to the size of her head as opposed to her length
- she likes to turn her head to the left side, so she isn't that interested in looking at the playgym toys above her

What we are doing loads with her:
- Singing while holding her, rocking her to the rhythm of the songs
- Talking to her at the horrible high-pitched voice that she loves
- Giving her tummy time a lot more than the other 2, I would say up to 5-6 times a day
- holding her up, so she centres her head and showing her toys that way

Why us?

I never actually asked this question. I think asking "why us" would fundamentally disagree with my beliefs. Everyone should be equal; this time we were the lottery winners, we got the one of the 3-5 winning tickets from a million.
Having a seriously stigmatizing disorder would be just as unfair on anyone else. I don't believe in a meaning either, I see lots of people who do, good for them. I don't think that I was a bad person in my current or previous lives and thus my bad actions have come back to hunt me down, that's bullshit, this is my blog so I get to swear occasionally, especially when I am lamenting about superficial theories on world order that are so easily passed by ignorant people who don't realize how hurtful their comments are to someone on the other side..
I don't think either that we were chosen because there was this little soul wondering around in eternity and we were the great family for her to be raised up with, to me - albeit flattering- that is equally surreal, I would not choose myself as a parent to a child with a disability, I am not the perfectly thoughtful patient mother.

The truth... if there is such a thing, anyhow, my truth is that something out of a since fiction movie happened to us, I can't comprehend how, and this bugs me because I need to be able to put my head around everything to process things. 1 gene decided to mutate, it's like a software bug as it were... maybe that's too harsh, a software glitch perhaps.

Now, asking "Why Fiona?" is a lot harder question to ask and one that makes me furious, she sure didn't deserve to be set up to live life through such hardship, neither does any other child, but I guess as a parent, my instinct is to react a lot more vehemently.

Will we make the best out of it? - Surely
Do I feel like that I would prefer to have my left leg cut off just so that I could give her some extra height and arm-length to protect her from all the negative discrimination that she will need to face? - Of course, I am sure any parent would choose that - can it be done, nope.

I am a fighter to my core, everything I can recall about  my childhood was about fighting to survive, to overcome a multitude of difficulties, I am not one for surrender, I am the type of person people hate to have arguments with. I cherish every moment with my kids, although some days I cherish most when they are finally asleep, but for the first time ever, I would hit fast-forward if I could. I would fast-forward the next 13-14 years to see that Fi has grown up well adjusted, that she is doing well in school, that through whatever treatment we choose to have, she will be able to manage fine, that she has friends. I would feel sad for not whitenessing every little step of her development, but I think I would still choose to fast forward, I am not looking forward to the hardships that we will have to encounter at all.
Do I have the strengtht to go through this life, no, I don't, not today anyway, but I will, day by day, and some days I will collapse and feel that we can't do it anymore and the next day I will pick up again and move the giant mountain for my daughter, for all 3 of them, because this is what we do as mothers.

Grandma list 1

For the longest time, well, ever since we started having kids, I have wanted to start a list for me, when I will be a granny, to remind me of what I as a young mother needed as help. I hope that I will to see all 3 girls having children, but I won't go down the sentimental route now...

So why the granny list, because both grannies in our families - as gorgeous and well meaning as they are - because they are both lovely and always have our and the kids' best interest at heart, have been driving us up the flippin' wall ever since the girls were born :-). We love them dearly and we know that we too are far from perfect...

So I will add the first item today: When my daughter will spend her daily hour in front  of the computer without having to attend to any of the children, I shall not initiate the discussion of recipes :-)...

"She is so small, short, etc."

The first comment came when Fi was about 5-6 days old and I was at an indoor playcentre with her and the other girls. This older woman came up to me and chatted about all the usual baby mad things, "Oh she is so beautiful, so cute, how old... Wow, she is really short."
I was really unprepared, I guess at that stage we didn't have a confirmed diagnosis, we haven't met with our local LP group, the wound was rawer than raw... We were just released from the hospital a few days before being told that there was nothing wrong and I possibly just heard back that very morning from the specialist where I had sent the X-rays to get a second opinion that in fact she for sure had a skeletal dysplasia and the question was achon or hypo...
I just muttered to the woman that she was born pre-mature, which isn't even true she was born exactly at 37 weeks.
I actually felt bad for the lady, she was just making an observation, she had no idea that she just took a rusty knife and dug it right into the centre of my heart.
The funny thing is for now she is actually at the 15th percentile for height... a lady in the coffee shop this morning asked me how old Fi was and she gave me this worried look saying "She looks very small." I was thinking of the possible answers: a) yes because she has a rare genetic condition, b) stick with the immature story... I chose b), I guess these people are well meaning, but it is so ironic, absurd, this whole discussion, her worried look... I decided that in the future until she is more or less on the growth chart, I will just stick to saying "Yes, I am not exactly a giant either, am I?" (I am 5'2).
Once she falls of the growth chart I think I will just say that she has a restricted growth condition that makes her limbs shorter. I can't use the LP, or D word... to me they are labels, I know they are acceptable for lots of people, but I can't use them just now.

Limb Lengthening thoughts

I hope this link is going to stay valid for a long time. I guess in my mind there is no real question whether or not it would make sense for Fi to have ELL done. However this article does walk one through the thought process for any parent and at one stage it almost had me convinced. I think it's always good to hear both sides of the argument.

http://home.comcast.net/~dkennedy56/lp_chap09.html

Hypochondroplasia and cognitive problems 2

This topic is my hobby horse for a number of reasons which I will write about very-very soon. For now I will publish this very informative link, I hope it will stay active for a long-long time.

http://books.google.ie/books?id=hxsZ-KeyZCQC&pg=PA120&lpg=PA120&dq=N540K+mental&source=bl&ots=T5Fqkq6sX6&sig=nLsuctTCRoZI16Qhko9ojrlI7vM&hl=en&ei=3awhTrH8BcyChQfm77HlBQ&sa=X&oi=book_result&ct=result&resnum=6&ved=0CEIQ6AEwBQ#v=onepage&q=N540K%20mental&f=true

Limb Lengthening Story 1

This story is about a girl who has hypo and had ELL done.
http://www.washingtonpost.com/wp-dyn/content/article/2008/11/21/AR2008112101749.html?sid=ST2008112501915

2 months old

First hearing test

This was our first real medical test of any relevance since Fiona was born.
Sure they did the X-rays for diagnostic purposes and we have been referred for a million things, none of which have of course happened yet...

I read this in Dr. Pauli's file about hypo:

"Problem: Ears and Hearing

Expectations: Many infants and young children with hypochondroplasia will develop recurrent or persistent middle ear dysfunction with conductive hearing loss (although this risk is considerably less than in children with achondroplasia). If not aggressively treated, this may contribute to delays in language and speech development. Middle ear dysfunction is often resistant to medical management.

Monitoring: Behavioral audiometric and tympanometric assessment, first at 9-12 months of age and at least yearly throughout early childhood. One should have a high level of suspicion that middle ear problems are present.

Intervention: Aggressive use of myringotomy and tube placement. If a child needs ventilation tubes, then they should be maintained until 6-8 years of age, since it appears that eustachian tube autonomy typically does not develop until then."

So I naively thought that I would just self-refer for a newborn hearing test just to have a baseline and then return every 6 months or so, I never expected any problems already...

The good news is that she did pass her hearing test, the bad news is that without me saying anything about her condition they could immediately see that there was a lot of negative pressure there and that her Eustachian tubes were quite small. We need to return for the next test in 3 months in the mean time I need to get into the system for a pediatric ENT specialist, so we wouldn't have to wait for months if she will need grommets...
So we shall see...

What is hypochondroplasia

I won't do a copy-paste job here... Instead I will try and collect some of the best links:

http://www.nemours.org/service/medical/orthopedics/dysplasia/hypochondro/characteristic.html


Please also look at the detailed genetics post I have compiled.

The importance of support groups

I guess I never really realized the importance of support groups until we REALLY needed one. Sure, I would have been a member of on-line mothering forums discussing pregnancy, sharing helpful tips and tricks, but the support groups became very important once we found out about Fiona's potential condition.
We wanted to connect with other people who have gone through the same experience, who know more than we do and also for Fiona and the other girls to be able to meet with other people with restricted growth conditions.
I now facebook, e-mail, chat with friends I have made through these forums, read their blogs. It has a normalizing effect, it's not only us, and actually it is OK and they can be happy and lead normal lives.

Fifi's lullaby