‘A’ is for Adelaide and Achondroplasia

I’m not sure where to begin. I could go back to camping.  That amazing 2-days my husband, Dave and I spent in Maine, creating our beautiful daughter.  It wasn’t really romantic, but it got our minds off of the previous 6-week troublesome time, which began with an early pregnancy miscarriage- often referred to as a chemical pregnancy.  In the weeks following, when the cramping eased, and the doctor reminded me that we could try again right away, we knew we needed a weekend away.  With our handsome puppy at doggie daycare, we took off to Wells, Maine.

It was a beautiful weekend.  And we made Addie.

A few weeks after we got back, I got a faint line and after watching the timer flash for 3 minutes “PREGNANT” popped up on the digital screen.  Excited, but scared to repeat the past, I tried to hide my findings from my husband; but, a few hours after he went to work, I texted a picture of the test to him.

***

Hearing her heartbeat was the most beautiful music ever created.  Rapid and deep, hearing her life beginning in me was one of the best days of my life, and over the following months, I took the tests, ate well, gaining only 26 pounds, and was then blessed with a beautiful, but long, delivery at 38 weeks, 5 days.

A clear-lunged Adelaide Eileen came into the world April 17, 2012 at 10:32am at 7 pounds, 7 ounces and 18 inches long.

18 inches is in the 5^th percentile for height in a newborn.

At Addie’s one month check up, her head was in the 75^th percentile, weight 10-25^th percentile and height still in the 5^th.

At two months, her head was in the 90^th percentile, weight 25^th percentile, and her height had dropped below 5^th.

I cried.

We left the doctors’ office with an appointment for a fontanelle ultrasound to check for Hydrocephalus and another for x-rays of her long bones.  At 5’7 and my husband standing 5’9, I was unsure how we had such a short baby, but her head was our main concern.  Along with the appointment at the radiologist’s office, Addie left the office with thighs sore with vaccine shots.  Later that night, June 19, 2012,  a fever of 101.5 struck, and was just the beginning.

***

At 7pm, June 21st, we arrived at Hasbro Children’s Hospital in Providence, RI. Addie presented with a mild-grade fever, lethargy and a lack of appetite. She endured hours of IVs, needle pricks, blood draws, a CT scan and four, yes four, unsuccessful attempts at a lumbar puncture.  Without the spinal cord fluid needed to run a meningitis test, Addie was started on broad spectrum antibiotics for the night.

A tentatively negative read was done of her CT, for everything, including Hydrocephalus- a concern due to the rapid growth of her head. Although this brought relief, there was another test we knew needed to be done for her general heath (an x-ray of her long bones), and there was the issue of what was making her ill at the present moment.

***

A call from our pediatrician to the attending physician in the hospital prompted the bones of her body to be x-rayed, specifically the long bones in her arms (upper) and legs (thigh), pelvis, spine and skull, which took all of 10 minutes and we were wheeled back to our room.

A geneticist came to do some measurements. I felt hot and sick. There were tears forming, but, as a mother, I had known Addie was too short for her age. We discussed nothing specific, only mentioning that there could be a genetic anomaly, and that’s why she was called in to look at the x-rays. As the doctor left the room to read the x-rays herself, I held my knees to my chest and practiced breathing.

When she returned, I was cleaning out my breast pump pieces in scalding water. She pulled a chair up to talk. I stayed at the sink, burning my hands in the water. When she didn’t continue her diatribe, I knew the x-rays had shown something. I finished washing the bottles and made small talk. If I never heard what she had to say then she had never said anything. Right?

“After reviewing the x-rays with the best radiologist in Rhode Island, we have both confirmed the diagnosis of Achondroplasia,” Doctor.
“What’s that mean?” Dave.
“Dwarfism,” I said. Blankly staring at something that wasn’t there.

Achondroplasia 

There’s been a lot of discussion over the years about the proper way to refer to someone with dwarfism. Many people who have the condition prefer the term “little person” or “person of short stature.” For some, “dwarf” is acceptable. For most, “midget” definitely is not.
But here’s an idea everyone can agree on: Why not simply call a person with dwarfism by his or her name?
Being of short stature is only one of the characteristics that make a little person who he or she is. If you’re the parent or loved one of a little person, you know this to be true.
But here are some facts that other people may not realize about dwarfism and those who have it.

Dwarfism:

• is characterized by short stature. Technically, that means an adult height of 4 feet 10 inches or under, according to the advocacy group Little People of America (LPA).
• can be caused by any one of more than 300 conditions, most of which are genetic. The most common type, accounting for 70% of all cases of short stature, is called achondroplasia.
• can and most often does occur in families where both parents are of average height. In fact, 4 out of 5 of children with achondroplasia are born to average-size parents.

Dwarfism isn’t:

• an intellectual disability. A person who has dwarfism is typically of normal intelligence.
• a disease that requires a “cure.” Most people with one of these conditions live long, fulfilling lives.
• a reason to assume someone is incapable. Little people go to school, go to work, marry, and raise children, just like their average-size peers.

What Causes Short Stature?

• More than 300 well-described conditions are known to cause short stature in a child. Most are caused by a spontaneous genetic change (mutation) in the egg or sperm cells prior to conception. Others are caused by genetic changes inherited from one or both parents.
• Similarly, depending on the type of condition causing the short stature, it is possible for two average-size parents to have a child with short stature, and is also possible for parents who are little people to have an average-size child.
• What prompts a gene to mutate is not yet clearly understood. The change is seemingly random and unpreventable, and can occur in any pregnancy. If parents have some form of dwarfism themselves, the odds are much greater that their children will also be little people. A genetic counselor can help determine the likelihood of passing on the condition in these cases.
• Dwarfism has other causes, including metabolic or hormonal disorders in infancy or childhood. Chromosomal abnormalities, pituitary gland disorders (which influence growth and metabolism), absorptive problems (when the body can’t absorb nutrients adequately), and kidney disease can all lead to short stature if a child fails to grow at a normal rate.

By far, the most common skeletal dysplasia is achondroplasia, a short-limb dysplasia that occurs in about 1 of every 15,000 to 40,000 babies born of all races and ethnicities. It can be caused by a spontaneous mutation in a gene called FGFR3, or a child can inherit a change in this gene from a parent who also has achondroplasia.

People with achondroplasia have a relatively long trunk and shortened upper parts of their arms and legs. They may share other features as well, such as a larger head with a prominent forehead, a flattened bridge of the nose, shortened hands and fingers, and reduced muscle tone. The average adult height for someone with achondroplasia is a little over 4 feet.

Diagnosis

Some types of dwarfism can be identified through prenatal testing if a doctor suspects a particular condition and tests for it. But most cases are not identified until after the child is born. In those instances, the doctor makes a diagnosis based on the child’s appearance, failure to grow, and X-rays of the bones. Depending on the type of dwarfism the child has, diagnosis often can be made almost immediately after birth.
Once a diagnosis is made, there is no “treatment” for most of the conditions that lead to short stature. Hormonal or metabolic problems may be treated with hormone injections or special diets to spark a child’s growth, but skeletal dysplasias cannot be “cured.”
People with these types of dwarfism can, however, get medical care for some of the health complications associated with their short stature.
Some forms of dwarfism also involve issues in other body systems — such as vision or hearing — and require careful monitoring.

Possible Complications and Treatments

Short stature is the one quality all people with dwarfism have in common. After that, each of the many conditions that cause dwarfism has its own set of characteristics and possible complications.
Fortunately, many of these complications are treatable, so that people of short stature can lead healthy, active lives.
For example, a small percentage of babies with achondroplasia may experience hydrocephalus (excess fluid around the brain). They may also have a greater risk of developing apnea — a temporary stop in breathing during sleep — because of abnormally small or misshapen anatomy or, more likely, because of airway obstruction by the adenoids or the tonsils. Occasionally, a part of the brain or spinal cord is compressed. With close monitoring by doctors, however, these potentially serious problems can be detected early and surgically corrected.

As a child with dwarfism grows, other issues may also become apparent, including:

• delayed development of some motor skills, such as sitting up and walking
• a greater susceptibility to ear infections and hearing loss
• breathing problems caused by small chests
• weight problems
• curvature of the spine (scoliosis, kyphosis, and/or lordosis)
• bowed legs
• trouble with joint flexibility and early arthritis
• lower back pain or leg numbness
• crowding of teeth in the jaw

Proper medical care can alleviate many of these problems. For example, surgery often can bring relief from the pain of joints that wear out under the stress of bearing weight differently with limited flexibility.
Surgery also can be used to improve some of the leg, hip, and spine problems people with short stature sometimes face.
Nonsurgical options may help, too — for instance, excessive weight can worsen many orthopedic problems, so a nutritionist might help develop a healthy plan for shedding extra pounds. And doctors or physical therapists can recommend ways to increase physical activity without putting extra stress on the bones and joints.

 

The information runs far and is quite plentiful.  In the United States, approximately 10,000 individuals are estimated to have achondroplasia. Achondroplasia affects about 1 in every 40,000 children. However, this number varies, depending on the source. Eighty percent of all little people have achondroplasia. Approximately 150,000 persons have achondroplasia worldwide. The worldwide population of little people is approximately 190,000.

And there, my dear readers, are the facts.

Please don’t say you’re sorry. Nothing to be sorry about. She is beautiful and we are blessed. She’s a bit small for her age. That’s all.  Mention of a TLC tv show hardly seems appropriate, after all, is social media the best judgment or indicator for life’s actuality? Asking if there is anything you can do doesn’t make much sense either, as she is a normal little girl in every way but height.

People don’t know what to say- I’ve already encountered that. But if I may be so bold as to make a suggestion, if you don’t know what to say, say nothing.

Adelaide Eileen. The prettiest girl in the whole wide world. <3

But with all this talk, I can’t say that I’m not scared, or angry, or confused, or hurt. I can say I’m so happy, blessed and in love. Little people live normal life expectancies and can do anything they want.  It’s not a disease. She does not need to be cured.

She cannot ever do gymnastics.  If I said this didn’t hurt me, I would be a liar.  I was a gymnast, and some of my fondest memories are swinging my long and lean body around the bars, sleep over camp and long drives to state meets. She cannot participate in other little girls’ gymnastics parties. But, she can swim- and I’m looking forward to mommy & me swim lessons like it’s Christmas day!

And here I am. I’m angry.  I’m really angry. I’m so ashamed of myself for, potentially, making life harder for her.  I am, in my mind, at fault. I want to help her be the strong girl I know she is, but how can I do that when I’m falling apart on the inside? I’m angry this will impact her. I’m angry other children won’t get it. I’m angry that people in her family, at least not everyone, will understand and respect and be “ok” with her stature. I’m angry people may point, laugh, call her names, misunderstand her, and hurt her. I’m angry, damn it. I really am.  Perhaps some of my fears are masked by this anger, which I’ve always been so quick to feel, but for now I’ll call it a pure emotion and hope it unfolds well.

As I watch her sleep in her hospital bed (crib), she looks like the most beautiful girl I’ve ever seen. She has my little nose and crooked pinkies, and Dave’s ears and lips.  She is an angel. She’s a perfect combination of the man I will love forever and myself. Maybe she’s not your ideal baby- but she’s certainly my ideal: happy, healthy, with dimples, bright blue eyes, 10 fingers and toes, sweet baby coos, and a sigh that ends with her collapsing on my chest.

In truth, as I write, she is getting better from whatever brought us here in the first place; No fever, less lethargic and eating much better. But she is still here. I am battling with her being sick and getting a lifelong diagnosis that I’m not sure the right way to process.  I am dealing with the good news of no hydrocephalus and the shock of knowing my daughter will be physically different from other children. I am scared of my reaction to other parents, when they tell me of milestones their children are crossing, as Addie’s motor skills may be slightly behind because she cannot learn to sit by propping. I am wondering what life will bring to her and how I can make sure she has the best one possible- as any parent does for their child.

Over the past few days I have tried to take all the information thrown our way in stride, and remember that some questions will remain unanswered until she reaches a certain age and the universe reveals its mysterious ways.  I’ve contemplated if I had known she would be a little person before she was born, would I feel differently… no.  I wish I had had the time before she was born to process, as it is hard to shed tears when I’m looking at her beautiful face; but I will let my emotions take their course, rely on the love Dave and I share and the information at hand to be the best parents we can be.

And so, I conclude.

‘A’ is for Adelaide and Achondroplasia.