Welcome To Mandys Story
This is the ongoing story of a girl named Amanda, who has Chondrodysplasia Punctata.
This is a rare genetic disease.
I wanted to tell her story in hopes of providing information based on our own experience to another parent or individual. I will try to provide as much information as I possibly can.
Amanda was born on April 30, 1998. She weighed 5 lbs 4 oz and was 16 1/2 inches in length. She was delivered by C-Section 3 weeks early. After examining her the neonatologist said she was doing just fine. The neonatologist was brought because when I was born my lungs collapsed. See I also have Chondrodysplasia. Knowing that Amanda has all the signs of the disease during my pregnancy they wanted to be prepared.
Amanda was born with very sparse hair and skin that was dry and flaky. Eucerin was used to keep her skin soft and to help aid with the flakyness. She was a bit Jaundice but not much. Her right leg was about an inch shorter in the thigh area. A couple of her fingers were bent in toward her thumb. Her wrists were also bent down and in toward her chest. From what I have been told that is because the bone that grows where your thumb and wrist is didn't grow properly.
The day we brought her home from the hospital she weighed 4 lbs 10 oz. This drop in weight was said to be normal in most babies.
Within a few months problems started to arise. Her scalp was getting these little pimples that just wouldn't go away. A cloudy film was also beginning to develop in her right eye. Her doctor suggested that we take her to Hershey Medical Center in Hershey PA. There she began seeing an dermatologist, orthopedist and an opthomologist.
The dermotologist prescribed Hydrocortizone Cream 2%. That would be changed in March 2001 to Head and Shoulders Dry Scalp and Derma-Smoothe/FS (Scalp Oil)
The eye doctor began to keep close tabs on her right. He told us that she had cataracts in both eyes. The right eye appeared to be worse then the left. That would account for the cloudyness. In December of 1998 the cloudyness had become alot worse then originally expected to in such a short time. So in January 1999 she had cataract surgery. She had to have her right eye patched for several days. She has a contact in her right eye which would be later changed to glasses in March of 2001.
Shortly after her cataract surgery Amanda had to have a skin tag removed from her rectal area. The skin tag was actually growing into her rectum and began causing problemswhen she had to pass stool.
In 1998 the orthopedic doctor began with x-rays and said she had speckling of the bones. He was also not sure in her right hip was in the socket. That was normal in children with her disease. These x-rays would be redone every 6 months until November 1999. Around April of that same year Easter Seals had began to assist us in aiding Amandas needs. She was unable to roll, crawl, sit, walk, chew or talk. Her muscle tone was very low. They, as much as I, began to wonder what wrong. Why wasn't Amanda doing things like other children her age. Just because she was small she should have been able to function somewhat like a child her age. In December of 1999 my mother saw a program that introduced us to the doctor that would change our lives. He was a doctor out of John Hopkins Medical Center in Maryland. Our first appointment was in Febuary of 2000. Right from the start he saw problems with Amanda. He ordered an MRI which was done in April of 2000. This was around the same time that she began to roll over to ther belly and back again. After the MRI was sone we went back to see him where he told us she needed a soinal fusion. Amandas C-1 and C-2 vertebrae were pushing on her spinal cord. Severing the cord was a high possibility if surgery was not done. The surgery was done on June 16th 2000. Seeing Amanda for the first time after surgery was very hard. She had been placed in a halo. That meant she had seven pins (screws) in her head and a chest vest on. She had a breathing tube down her throat and an NG tube in her nose. She also had 2 IV needles in as well. She was kept in the hospital for 5 days. Over the next six months she would endure things that no one should experience. Especially a child her age. There was several trips to Maryland, via ambulance, due to pin drainage, bleeding and regular check-ups. She delevoped problem with the chest vest she had on. The vest acutally rubbed her incision, in her hip area, open. The reason for an incision there was that was where a peice of bone was taken for the fusion. The shoulder pads rubbed her right shoulder very raw. She had to have a Duo-Derm patch on under the vest fabric. She was admitted into the hospital with a viral infection which no one could figure out how she got. That stay in the hospital lasted 3 days.
Finally on December 1 2001 The halo came off. That was a horrible but happy day for us. Horrible because I had to hold her while they took the pins out of her head. There was blood everywhere and they even broke a wrench trying to get one of the pins out. When it was all done and she had been placed in a collar, one like one wears when in an accident and has whiplash, I was able to hold her close tome. That was a wonderful feeling after all that time. The collar was not without it's problems though but they were easly over come. The collar was not snug enough and again she was being rubbed raw. So I bought sheepskin fabric from our local fabric store and lined the collar. It worked like a charm. Within a couple months she began to roll around again.
As of July 2001 she still can't crawl, sit, walk talk, or chew. She is still taking a bottle but she has just recently figured out how to hold it by herself. She is still on stage 3 baby foods and/or very finely chopped table food. She has all her baby teeth but she still bites her hands like she is teething. She is still unable to hold anything because of having such low muscle tone.
On September 6 2001 Mandy saw a Neurologist. She has ordered an EEG to check for possible seizures. Over the past few months Mandy has been displaying some strange behavior. While laying on her back Mandy will stiffen her body, legs straight out, stares up at the ceiling, and makes odd facial expressions.This is the reason for the EEG. She has ordered an MRI to check the brain activity or lack of. She has also suggested Mandy go to a feeding clinic. There they will check her protein and caloric intake, any vitamin deficiencies. She has suggested that Mandy is lacking some vitamins that can help with her corse hair. Mandy will return to the doctor in November. The doctor is also looking into having either Mandy or myself tested to see exactly which Chondrodysplasia we have. This is because 1. Neither one of us has been tested, ever. and 2. They have Mandy as having a different strand then I
On June 26 2002 Mandy was again seen by a Neurologist. The results were that there seemed to be no brain damage. The vertrical was in the upper limits of normal. The white matter so far shows no damage.
Amanda is now 4 years and still is very limited in her actions. She is able to roll around, turn pages in books. Although her wrists are as they were she manages to turn the pages. She still is not talking, sitting, walking. She is combat crawling and every so often she gets her knees under her belly and uses her knees to help crawl. She is still fussy in cars, driving in parking lots, in crowded places. She babbles still and coos. She seems to have bad bouts of Exema on the back of her legs behind the knees and in the creases of her arms where the elbows bends. I am treating it with Aquapur. A new ointment that came out by the makers of Eucerin. I just started using it and it seems to be heloing a lot. She still has bad Dermotology problems on her head. I am still treating it until we get a new doctor.
March 5, 2003 Mandy is almost 5 now. She is combat crawling and trying to get up on her knees. She shows signs of wanting to stand on her feet. She will push up if you are holding her. She will soon be fitted for new hand and wrist braces. She is also going to be fitted for a stroller, car seat, and will be getting a bath chair, and feeding utelsils. She can not feed herself but is in a feeding clinic. Which will teach her how to feed herself with the aid of a strapable utensil holder. She is still drinking from a bottle. I have recentle been supplimenting her milk with Nutren. Nutren is like Ensure for kids. Each 8 oz can has 250 calories. She is still unable to fully chew so her eating habits are just about the same. She is in Pre-K still. She can turn pages in books, push a ball, and still loves her videos. Her favorite is Elmo and Clifford. She is unable to talk but can fuss when she is thirsty or hungry or dislikes something. We still have the problem of crowded places and driving for long distances. Amanda weighs 23 lbs and is about 32 inches long right now. Her hair is still sparse and is now on Fluocinonide. That is a steriodal liquid to keep the Excema under control. Her skin is much better. Breakouts behind her knees are few and far between. There have been no stays in the hospital over this past year. She has had a few colds but nothing out of the ordinary. She is receiving Physical, Speech, and Occupational therapy each week. All of which take place either in the home, school or at the rehab center. Rehab ccenter being the hospital rehab department. She will be receiving a contact for her right eye upon her next under anesthia eye exam. Glasses are not right for her at this time.
Until the next entry Thank You for visiting this site. If you know anyone with this disease and they would like to talk to me please e-mail me at the address below.
Pictures Of Amanda
Helpful Links
Little People Of America
Magic Foundation
Restricted Growth Foundation
Teddy Bear Foundation For Achondrodyplasia
National Organization For Rare Diseases
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Email: savgardngirl@yahoo.com
