Stupid Achondroplasia :)

On a recent shopping trip, Leah decided it would be a fun to measure her height in the kiddies clothing department.  We have been stuck on 107cm for a quite some time and she is well aware of this “no growth progress point” but really?…… she has dwarfism so we are not expecting much growth anyway.

So as we step up to the measuring chart I say “WAY TO GO LEAH you are 107cm” and Leah then responds with “This stupid achondroplasia …..Mommy how many times do I have to BEG you to get me heels? I was thinking that it was going to be a sad moment that would need some pep talk, but after a long silence she said “Mom make sure my heels are blinged up I want to wear them with my tight black pants” No pep talk needed just a little girl dreaming of her first pair of high heels 😉

raising Leah

Luke 1: 37

Instead of posting loads of dwarfism anatomy facts, I decided to share some of my favorite verses of encouragement for the month of October. I think each picture captures Leahs personality perfectly; what you see is what you get… Leah is a happy, fun loving little girl, always smiling and affectionate, she is truly an amazing kid!



Dont let them steal your time to shine….

It seems Leah is doing so well that she leaves me with nothing much to say these days lol.  Her progress at school has been awesome thus far. She loves being with her friends and loves learning new things every day in fact things have been going so well that Leah was recently awarded with most exemplary student. Needless to say the whole family was very, very proud of our little girl.


A few days after this event some dark clouds seemed to try and steal our sunlight. Leah and I usually have our girl talk time in the kitchen while I’m cooking dinner but this particular day she was unusually quiet and when I questioned her as to why she seemed  so down, she told me that one of the kids in the class told her that their dad said the only reason why Leah was selected as exemplary student was because of her dwarfism and that they feel “sorry” for her and she got the award because she has a disability. In a instant I was filled with rage and I had to bite my tongue as I did not want to show Leah how this affected me, after all me doing a melt down is not showing her much encouragement on how to deal with these heart breaking moments, so I took a deep breath and I asked her how it made her feel when her friend said this, her answer was “I don’t really care anymore she is just jealous that’s all”. She made me so proud and I was really surprised at how something that enraged me to my core did not mean anything to her. I guess if I had acted out on my emotions she would be left doubting herself.


But this is my blog and now I get to say my say….

 What does enrage me is that a PARENT (adult human in this case as ignorant as a rock) would put forward the suggestion that the only reason Leah was awarded is because “they feel sorry for her cause she is a dwarf”. This angers me cause it is these parents who teach their kids that disabilities is a “feel sorry” situation and that people with disabilities cannot really achieve much. Whatever gave you the idea that Leah gets special preference at school? The sad reality is you as a parent lack common sense and the lessons you instil upon your child will force the new generation to carry on with your selfish ignorant thoughts towards people with disabilities. It’s probably parents like you who park in parking bays reserved for those with disabilities because you are too lazy to make use of your fully functioning legs that extra few meters of walking is just too much for you to bear. Its parents like you who suffer from the worst know disability to mankind and it’s called IGNORANCE and you breeding this disease amongst your kids. I don’t blame your child I blame you for planting your seed of ignorance in their young growing minds.


I’m happy that Leah has not allowed any negativity to break her spirit, I’m happy that Leah has the support of loving teachers and friends at school, It’s just sad that there is one parent out there who has serious issues to deal with and I do hope you read this post and somehow find the wakeup call that might cure you from your own sad insecurities.


The folder of webcam fun…..

While searching for a document on my computer the other day I came across a folder containing loads of pictures of Leah and her sisters. There they were, performing in front of the webcam and clearly loving every minute. There are some shots of Leah were she had the camera to herself all of which I found very entertaining. The say a picture paints a thousand words, I think these pictures captures their personalities perfectly, full of fun and always ready for a laugh. Thought I would share a few…….THERE ARE LOADS, it was hard to choose hahaha


raising leah

2013-04-02 20-49-00.926

2013-04-02 20-50-40.571

2013-04-02 20-49-04.197

2012-08-05 14-31-40.871

2013-01-07 13-00-52.422

2013-04-02 20-48-46.163


Lots of new starts

Happy New year to all and I hope your year ahead filled with all that is good!! Last year was kind of a slow blog year for me…. but that is all about to change this year 2013 has its fair share of excitement in store for us. Leah will be starting main stream public schooling so I look forward to see her progress. I must admit I am struggling to shake my protectiveness but this day was bound to come so expect lots of pictures and updates on her progress.

I will be keeping a close eye on the BMN-111 human trials starting soon and I will try my best to update on the progress on a few of our little ones who are partaking in these trials. If this proves to be successful it will truly be an amazing medical achievement as it could potentially eliminate the need for decompression surgery both early and late in life, as well as surgeries to correct obstructive sleep apnea (tonsillectomy/adenoidectomy for the purposes of opening up the airway, etc).

So here is to a 2013 filled with positive energy and lots of updates 🙂


So i have Achon……

It’s been fairly calm the last few weeks, Leah’s health has been good, and we have been enjoying the last few weeks of summer, sadly the air is cooler than there is that distinctive chill in the evening breeze. So I guess we going to keep a close eye out for that nasty flu bug as we heading for that time of year again… Winter!!!!!

I must let you in on Leah’s new favourite word “Achon”. As you have read before she now realizes that she is a little person. Its not easy because we have moments where I can see she seems really sad about it, she often asks me when she will be taller and sometimes she gets frustrated when she cant reach things, or when her foot wont fit in the pretty pink shoes, or when her head can fit through the neck of the pretty sweater. I feel her emotion and it’s hard for any mother to see the disappointment in their child’s eyes, even when it’s not something you would consider a serious issue.

But there is a lighter side to things, Leah has a great spirit, she does not let disappointment get the best of her after a while she seems to accept that sometimes its just not a bright idea to force her cute foot into the shoe that clearly wont accommodate that achon instep, sometimes when the sweater wont fit, she runs around scaring her sister saying “Leah has no Head” we just have to have a giggle because I realize that she is slowly starting to accept her body and most of the time she seems to be fine with it especially when she rubs her round belly and says “make a wish” LOL, but what  I love the most  is when I see how her captivating personality simply makes people fall in love with her she has a such a pure energy with so much love to give, at the same time she has a really good sense of humour…quite sharp at times  let me give you some priceless  moments…

Recently a friend of mine gave birth to a little boy, when Leah saw the baby she said “ Mum he is way to small, I think he has Achon” . One evening I had a problem getting the girls to eat their vegetables and without thinking I said “You are not going to grow if you don’t eat your vegetables” Leah said  “Duh… I have Achon, not going to grow no matter what I eat” that one had me burst out laughing and how was I to counter that comment. The best is when she met some kids who are younger and taller that  she is and I  said “Leah why don’t you go play with your new friends”, Leah rolled her eyes put her hands on her head and said “ Oh my gosh why do I have to play with  the Big Babies I have something else to do right now!! ”

So unfortunately there are going to be sad times, but best of all we will have tons of light-hearted happy moments I love these moments cause they make you realize that things are actually perfectly balanced. I have always been a strong believer in the energy we hold within us and it’s so important to keep that energy positive in our home. Leah knows that she is unique inside and out and just being around her makes me realize that feeling down is only but for a moment. No matter how bad things may seem at times this too will pass, and as a mom I focus on assuring her that its okay to be sad, its perfectly acceptable t laugh at yourself, and never let those ugly negative people steal the joy you have within you.

When will I be “BIG”

Leah has become aware of the fact that she looks different, I often here her say I want new arms or why can’t I reach but she can, it’s difficult for me because I often find myself saying “Leah you are Special” and I know from the look on her face that the “Your Special” thing is  becoming a bit monotonous  . People tend to assume that she does not really understand her condition because she is only 4 years old, but I know this is not true and she is becoming increasingly aware of her difference.

I guess I knew this time would come and I am fully aware that this is only the beginning , when she meets other kids she will always ask “How old are you”  and low and behold if they say that they are 4 years old she asks “Why are you so big ( tall)”  The worst for her (and me) is when she tells other kids that she is 4 years old they run off and say  “No way you’re still a baby” this gets her into a rage of astronomical proportions and it usually turns into a screaming  situation of  “ IM NOT A BABY STUPID!!!”  Or this one “OH FOR GOODNESS SAKE IM NOT A BABY YOU RUDE IDIOT” and that thanks to the vocabulary building skills of Leah’s older sister.

The worst of me is to see the utter frustration of this perfectly capable 4 year old trying to explain that she is just small and she can play just as well if not better than the other kids. Recently she asked her dad “when will I be big (pointing to the sky)” and all dad could do was pick her up and say one day you will be grown up …just not “big” and to our surprise she said “No I want to be big” as she was not interested in the maturity aspect of growing up she wanted to know about her height.

I really thought that I would be prepared and ready to answer any questions, but I don’t know if I am. I feel so sad when kids call her a baby, I feel sad because I see how angry this makes her. But on the upside once they give her a chance, they realise that she is just short and all is forgotten. But what gets to me the most is that it seems she  may have to prove her worth in every new situation, and it’s so unfair that a simple difference warrants you to the test of worthiness before acceptance.

It’s sad that even in the world of children for some, the bad habits of ignorance is instilled, and it seems it’s the BIG people who don’t seem the weed out this prejudgment of difference.  If you took the time to teach your child about not seeing disabilities as an obstacle imagine the difference it would make, after all we are our children’s greatest teacher and most of what they know comes from you.

What new LP parents need to know

I recently attended a  meeting for parents of Little People,being the mom with the youngest child I was soon approached by one of the older kids moms who kindly asked me what my understanding of Achondroplasia was. I explained that I have been researching and blogging for about 3 years so I thought I knew this condition fairly well. She then went on to say its fine my dear “You are new to this so let me explain “Achondroplasia is caused by a problem in your child’s brain, the baby is  born normal but then the condition sets in and stops their growth most of the time it can be caused by medication that was not suitable during pregnancy”  To say I was shocked by that opening statement is a understatement… and what angers me the most is that this sort of information is being passed down to new parents!!! Please parents of LP in South Africa I urge you to seek the advice of a Genetics counselor, this way you will be sure you are getting the Correct information and I’m going to be blunt here (I know im going to get hauled over the hot coals for this statement but I cant keep quiet about this type of thing)

If you do not know what you are talking about … PLEASE  !!!go educated yourself you are doing more harm than good by spreading BAD information around!!!

“And that is putting it nicely”

Over the past few months quite a few South African families who have had their little ones diagnosed with Achondroplasia have contacted me with this very problem, they do not understand what the medical concerns of dwarfism is, they are not sure of how to care for their little ones during the first few months and some even compare their child’s growth millstones to that of a AH child. So after some thought I decided to do this post with some really basic important information to help you understand what Achondroplasia and its health concerns is all about.  I am really happy that I can be of help, this was my goal when I started “Raising Leah” but please just remember this is information gathered from various reliable scores and by no means am I a doctor.

I have learnt  that even though I so much want to say “I know how you feel” reality is I actually may not know exactly   how you feel, We all react differently, we all accept differently but in the end we somehow cope and we see the best in every situation no matter how challenging it may seem. we do have one important thing in common we are moms of children that is going to need more care and face more challenges than the average child, so this post is for my  new LP moms and dads especially in South Africa … I hope it will help answers some of the questions you have sent me.

Question: What Causes Achondroplasia?

Answer: Achondroplasia is called an autosomal dominant condition, because people need inherit only one gene mutation in order to cause the condition.
This gene normally helps regulate the rate of gr
owth in long bones. Mutations in this gene result in severely limited bone growth.

In a small number of cases, a child inherits achondroplasia from a parent who also has the condition. If one parent has the condition and the other does not, there is a 50 percent chance that their child will be affected. If both parents have achondroplasia, there is:

  • A 50 percent chance that the child will inherit the condition
  • A 25 percent chance that the child will not have it
  • A 25 percent chance that the child will inherit one abnormal gene from each parent and have severe skeletal abnormalities that lead to early death

When both parents have achondroplasia, providers generally offer them prenatal tests to diagnose or rule out the fatal form of the disease. A child who does not inherit the condition cannot pass it on to his or her own children.

In more than 80 percent of cases, however, achondroplasia is not inherited but results from a new mutation that occurs in the egg or sperm cell that forms the embryo .Parents of children with achondroplasia resulting from a new mutation usually are normal sized. Typically, these parents have no other children with achondroplasia, and the chances of their having a second affected child are extremely small.

Geneticists have observed that older-than-average fathers (40 and older) are more likely to have children with achondroplasia and certain other autosomal-dominant conditions (disorders that occur when one gene in a gene pair is abnormal) caused by new mutations Individuals with achondroplasia resulting from new mutations transmit the disorder to their children as previously described.

information source

March of the Dimes

Question: I don’t feel comfortable with the word Dwarf.

Answer: The word “Dwarf” generally refers to something smaller than average, in our situation its short stature people who are 4’10” and under. I understand that it can be hard to use the word dwarf, but most people of short stature are comfortable with this term, some prefer “little person” or “short stature”. The term Midget is totally unacceptable. Usually when we speak about our taller friends we would use the term Average Height rather that “normal height”.

It important to remember that when you or a family member or teacher is introducing your child to others that they choose wording like  “ this is Leah, she HAS dwarfism, or she/he is a person WITH dwarfism” try not to use wording like “this is Leah she IS a Dwarf” you will soon find terms that you feel comfortable with but remember words are powerful and sometimes just a simple change in the way we say things make a difficult situation seen less hard.

Question: I am comfortable with my usual pediatrician / Family doctor I don’t need a specialist to do my child’s health checks.

Answer: This was a particularly hard situation for me to deal with, and yes being creatures of habit its hard for us to accept change but in the end I had to face reality and ask the question “How many other patients with Achondroplasia has my doctor cared for?” I slowly realized that I actually knew more about Dwarfism than my family doctor and Leah was lacking vital care, as they were not looking for the right  markers when we would take her for a check up. They were treating her like the “average” baby. The real wake up call for me was when an ENT specialist who was treating Leah for repeated ear infections eventually suggested surgery; Leah was 5 month old at the time. The statement that shocked me the most was “Don’t worry she is just like any normal child … just small”  He had no  idea of the danger involved when dealing with anesthetic in Achondroplasia and when I spoke to him about my concerns he said “ I’m a doctor I know what im doing, you are a overprotective mother” I asked “How many children with Achondroplasia have you operated on?” he said “None…but like I said they are just small” I said “ Goodbye, not coming back here because you actually don’t know anything when it comes to Achondroplasia, I live, sleep, read and breath this condition and you are right I am overprotective when it comes to doctors like you.  Living in Cape Town I attend the Red Cross genetic clinic, here Leah is in excellent hands we have accesses to Genetics counselor, doctors and professors who have studied Genetics.  Leah is part of the Achondroplasia Clinic and I know that she is receiving the best health care we can find.

Stay posted as I am currently compiling a list of Hospitals in South Africa that are running genetic clinics and I plan on posting it to this site.

Question: How should I hold my baby what safety precautions should I take?

Answer: Make sure that you support you babies head and neck this is very important as most babies with Achondroplasia have a larger head size and low muscles tone especially in the neck, make sure to keep their backs stable when holding them especially the over the “shoulder position”. Make sure that prams and car seats have adequate head and neck support so that babies head does not fall forward “chin down” this can make it hard for him/her to breath. DO NOT leave baby sitting in a carry car seat for long periods of time.

Question: What should I look out for when it comes to medical complications that may affect children with dwarfism like breathing and head size concerns?

Answer: I will try to list these in brief, but if you would like more detailed information regarding the health concerns for Achondroplasia I suggest clicking the link to “Knoahs Ark Achondroplasia Resource Center” here you will find a fountain of information about Dwarfism.

Head Size

A sudden increase in head size could indicate, Hydrocephalus: When the narrowing near the base of the spine prevents cerebrospinal fluid (CSF) from flowing freely around the brainstem or in and out of the skull, the CSF collects in ventricles (spaces in the child’s brain). The resulting condition is hydrocephalus. In babies, the most evident symptom of hydrocephalus is a quickly enlarging head circumference. Additional symptoms include:

  • headaches
  • irritability
  • lethargy
  • vomiting

This does sound scary but it is treatable. An achondroplastic child who has developed hydrocephalus may require a ventriculo-peritoneal shunt. In this case, a pediatric neurosurgeon can relieve the accumulation of CSF in the child’s ventricles by placing a long, thin tube under the skin. One end is placed in the child’s ventricle and the other in his or her abdomen. CSF is allowed to flow at a controlled pace out of the child’s head into his or her abdomen, where it can be quickly and safely absorbed into the bloodstream.
When symptoms are identified and acted upon in a timely manner, modern medical and surgical care allows achondroplastic children to grow and thrive just like any other AH child would.. Again I stress that you seek help from doctors who are knowledgeable in Dwarfism this way you can be sure that your child is receiving the best care possible.

Please note: Because an enlarged head is normal in achondroplastic children, pediatricians can use a special head circumference growth chart to distinguish between normal achondroplastic growth and possible hydrocephalus.

Breathing Concerns Apnea (stopping of breathing)

There are 2 types of Apnea, Obstructive Apnea (OA) – occurs because of small throat and nasal passages or enlarged tonsils and adenoids, this can cause loud snoring. In dwarfism a small chest cavity can affect breathing as well

Central Apnea (CA) – can be caused because of the FM cord compression. CA occurs when the brain does not receive the signal to keep breathing.

MRI of the head, neck and spine.
– The reason for this is to check the Foreman Magnum (FM). The FM or Cervico-medullary Myelopathy is located at the base of the head and neck. In an average height person, the FM is usually perfectly round. The spinal cord runs through the FM and connects to the brain. For an average height person, the FM doesn’t draw concerns from the doctor’s unless there is an abnormality, as in Achondroplasia. People with Achondroplasia have a smaller than normal FM. Instead of opening being round, a person with Achon has a FM that is shaped more like an old-fashioned key hole. It is wider at one end than the other. If the spinal cord gets trapped in the smaller end of the FM. Compression at the foramen magnum – (the bony hole at the base of the skull through which the brainstem and spinal cord exit the skull) – can cause a child’s brainstem to “kink.” This can cause a child to have:

very brisk reflexes
difficulty walking
loss of bowel and bladder control
sleep apnea – periods during sleep when the child stops breathing.

Brainstem compression can ultimately lead to death if it is left untreated, so parents and physicians of achondroplastic children should watch for the symptoms outlined above.

information source

Ear Infections

Many children with dwarfism have continual problems with middle ear infection because the middle part of their face tends to be smaller in size.

It important to treat and monitor middle ear infection as repeated bad infections can lead to hearing loss which can cause delayed speech development and can affect learning in school, if needs be your physician will suggest tubes to keep the middle ear healthy.

I hope I have helped with some of the questions for early Achondroplasia care, I will be sure to post some more questions and answers and I was thinking of tackling some practical issues my next post.  Happy to help all my Parents Of Little People in South Africa and keep those e-mails coming I will do my best to answer all your concerns.