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
numbness
weakness
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

http://www.hopkinsmedicine.org

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.

7 thoughts on “What new LP parents need to know

  1. WOW! Seriously, I can’t believe you were told that! Keep up the good work of spreading awareness Charmaine! It never ceases to amaze me how many ignorant people there are in the world! I had someone recently ask me if I abused my child, if that’s why she had a cast on! I think my jaw hit the ground literally!

  2. Charmaine this is awesome! You are great educator and inspiration! I can definitely believe that people can be so damn ignorant about achondroplasia (just like about everything else) and if this type of ignorance affects parents – this is dangerous! Good for them that they have a resource like you…. carry on!! BEst of luck! Leah is precious!!

  3. I must commend you for the job you are doing in raising awareness in areas of the world where awareness is severly lacking. You are an amazing person and mother. I know you are an advocate for Leah and for all these parents getting false information. If we can help in any way let us know. Even if it means pasting our blog addresses on telephone poles if that is what it takes! Hugs!

  4. I can’t believe that someone said that to you either! You are doing an awesome job of educating and raising awareness in an area that desperately needs it! You are an amazing mom! As Kim said – let us know if there is anything we can do to help!

  5. my son now is 8 months old and he got same diagnosis, achondroplasia. Our ancestors never got this mutation, but it was stated, like, because I am older then 35 years, so posibility to get a child with achondroplasia increases 10 times, because of bad sperma specimens, mutated one.. Sorry for mine bad english, greetings from Lithuania, Europe 🙂

  6. Wow! Thank you for the research you’ve done. My son is currently being tested for achondroplasia. Im still in the learning process, but blogs like yours are so helpful. Harrison goes in for an MRI next month and i’m very nervous. I know he’s in good hands, but don’t like putting him under. Thank you again,Jennifer

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