Achondroplasia

Knoah Sweat

By Ann Freund

Achondroplasia

Pregnancy can be an exciting experience. The uniting chromosomes from each parent determining your baby’s makeup. The technology of the ultrasound, making it possible to see life inside you! What if the ultrasound did not produce the picture you expected to see? “Tonya” has been kind enough to give us her perspective of how her ultrasound has altered her life. She gave birth to her son Knoah in November 2006. He was diagnosed with Achondroplasia otherwise known as dwarfism.
Twenty eight weeks into her pregnancy Tonya had a scheduled visit for an ultrasound. Though this was her third child, she was very excited. After 20 minutes the tech said he had to speak to the doctor. Leaving Tonya alone, with no other explanation, her mind raced. From the experiences of the last two children, she had been in and out in 15 minutes. What was going on this time? Everyone came back onto the room, the tech, the doctor and the nurse. They went over the ultrasound for what seemed like forever not saying a word to Tonya. Finally the doctor said that the baby was not growing normally and that she would have to go for a Level 2 ultrasound.
Two hours later, at the Level 2 ultrasound, a geneticist told her that the baby had skeletal dysplasia, or a malformation of the skeleton. The signs seemed consistent with Downs Syndrome or Dwarfism. Tonya felt numb. Since her husband had to work that day, she had gone to this doctor visit alone. It was not the kind of news one wants to hear when alone. Needing some assurance, she called her mom and told her something was wrong with the baby. When she got home she spent hours on the internet researching what they had told her. Why would this happen to her? Alright, so she wasn’t too happy at first when she found out she was pregnant but she had come to love this baby .She had taken her prenatal vitamins and never missed a doctor’s appt. She spent the rest of the day wondering why God would do this to her and cried.
Let me give you some background on dwarfism. Out of 200 kinds of dwarfism, Achondropolasia is the most common type. It is considered an autosomal dominant genetic disorder, meaning one of the non- sex genes, from either parent, has the genetic mutation. Like a flip of a coin, there is a 50% chance each time you conceive, your child will have Achondroplasia.

Even if you are not a carrier of this “mutant” gene, there is an 80% chance for you to have a spontaneous mutation and be the first to start off the genetic chain, as in Tonya’s case. And unfortunately, if both parents carry the gene, the chances are that the baby will be stillborn or not live past a few months old.
Achrondoplasia means the cartilage forms incorrectly while turning to bone. It is a very visual disability. The first thing you will notice is the short stature, average height being between 4’ to 4.5’. Next, you will see the skull shape, the head being large with a prominent forehead. As you get closer you will notice their limbs are very short. Hands are wide, fingers are short and the ring and middle fingers separate.
There are numerous problems resulting from the abnormal skull shape alone. Ear infections are frequent due to poor drainage resulting in surgically placed myringotomy tubes. If not caught early, deafness could be an issue. Teeth become overcrowded so oral surgery for removal is necessary for hygienic reasons as well as for appearance. As the odd skull formation includes a narrow opening in the base (foramen magnum), cerebral spinal fluid may not flow properly causing Hydrocephalus (water on the brain) and a shunt may have to be surgically placed for drainage. The medulla oblongata (which is responsible for controlling respiration and heart rate) may also be affected, therefore breathing can be difficult and a monitor is needed for sleep apnea. Since surgeries appear to be common, it is very important to check with the anesthesiologist that he knows how to work with an Achondorplastic person as handling the head the wrong way after anesthetizing can close off the airway.
Hypotonia is common along with bowed legs and knock knees. Body is floppy like a rag doll. For a normal child, you can place your hands under their armpits and lift. With these children, they will slip through your hands. Walking begins late between 2-3 years of age, with developing kyphosis or lordosis (hunch or swayback) and a brace may be in order for support. Due to the short stature, there is a great tendency to become obese. This opens another door of problems with the added weight placed on the joints and the chemical balance of ones body. Some may have surgery to correct the bowed-legged ness. Those that want a chance at a “taller” life have the option of being treated with a growth hormone.
Were there any signals along the way? Tonya had found out that the most significant event associated with fetal skeletal dysplasia during pregnancy is maternal hydramnios or weight gain for the mother. This is caused by the fetus not swallowing enough amniotic fluid due to neurological/gastrointestinal problems. Amniotic fluid is essential to the bone growth of the fetus. Tonya had polyhydramnios, gaining 100 lbs! Had Tonya been aware of this, she would have demanded earlier tests. She thought the weight gain was just from eating and being home with the younger kids. She also was not sure why her doctor was not alerted. There were no disabilities that she was aware of in their families. If so, had she planned this pregnancy, she would have gone for genetic counseling and had DNA testing. Most problems are usually caught through an ultrasound or amniocentesis. If there is any doubt, a body scan should be done after birth to confirm the diagnosis. Earlier testing also would have picked up if the baby suffered from fetal hydrops where there is accumulation of fluid (edema) in the subcutaneous tissue (under the skin), pleura (lining of lungs), or pericardium (lining of heart). This could have resulted in a spontaneous abortion and any decision of having the baby vs. abortion would have been taken out of her hands.
On November 14th, 2006, Tonya had an appointment for her final amnio. If the baby’s lungs were mature then she was going to be induced. She thought back over the past weeks. Twice a week her husband and she drove back and forth to the hospital for ultrasounds to determine if the baby was going to make it. He had been very supportive after hearing the news but did not open up to say how he really felt. Her other two children ages 8 & 6, were not really old enough to understand, but they sensed something was wrong. The older one, her son, had become difficult but there was nothing Tonya could do. She was fat and tired.
It was a go and Tonya was wheeled to Labor and Delivery. At 1:30 they “pilled” her and contractions soon began. At 4:30pm, her cervix was 4cm dilated. By 5pm she was 6cm. By 10pm she was only 8cm. Midnight 8 cm still. She was in more pain than her last two labors. Her thoughts went back and forth to God. Please don’t take this baby now. I asked you to take him before but please not now. I could not handle that. The decision was made to go for an emergency C-section.
Tonya lay on the table exhausted. Finally the baby was out but there was no cry. The baby always cries when born she thought. She had wanted this baby. Though it was not planned, it was God’s will. Silence. Something was wrong. Then she heard a small whimper, loud enough to shatter windows, and knew her prayers were answered and the baby was alive.
Tonya did not get to bond with her baby as most mothers due as he was whisked off to NICU. His body was limp and blue and rescue breathing had to be administered. Baby Knoah had been given his choice and he chose life. Probably he knew that his name Knoah (Noah) in the bible meant new birth, new life, new hope.
Twelve hours later, Tonya finally met Knoah.
A little fearful of this moment, not knowing what her “small man” would look like, “He was beautiful! Born 9lbs, 6ozs and 21 inches long did not seem like a dwarf baby size! What does a dwarf baby look like? His arms reached to his waist (a normal child’s would reach to hips), short thighs, a very long torso and a large head. Knoah had a head ultrasound for fluid and a shunt was placed. He had a MRI/CT to check his spinal cord for compression. As Tonya looked at him, she wondered if she would have done anything different. Knowing the ultrasound results before the second trimester, would they have considered abortion? Abortion was never a choice but knowing earlier would have given them a head start on finding a doctor who was versed in this kind of disability. Looking at him now, any fears of having a disabled baby were gone. She knew if he could get through the birth, then she could do anything.
Looking back on the past 6 months, Tonya feels having a child with a disability has advantages and disadvantages like everything else.
Since the child is smaller, it is easier to hug and kiss them! The baby clothes last longer, too! And they are much easier to catch when crawling!
But the disadvantages seem to outweigh:
1. C-section is mandatory -You do not have a choice in having natural childbirth due to the increased head size. Tonya had only been pushing Knoah’s head further into her pelvis. No wonder she was in so much pain! His head was bruised, few lacerations and his elbow was bruised.

2. People stare. Tonya thought back over her bi-racial life. When ever she went to an event with her husband, she was the only black person there. She had felt uncomfortable, although no one pointed her out. Black people are pretty well known. How will Knoah feel being the only dwarf in the room? People will point and people will stare.
3. Medical visits are numerous and costly. On June 29th, Knoah was taken to his orthopedic visit where he was strapped on a piece of wood about 4 ft in the air, his legs dangling. This was for x-ray purposes. They discovered that he had Kyphosis of 53 degrees and Scoliosis 23 degrees. A TLSO brace is in order which he will be in until he starts walking, or linger. The brace cost $2000 and insurance covers 50%. Unfortunately, it does not grow with the child so Knoah will be fitted with another brace as he grows. That means another $2000.
4. Sacrifice. New clothing for Tonya means she did not own it before. Tonya is working on ways to get financial help. Borrowing is out of the question as they can not afford another bill each month. Right now she is working on getting air conditioning donated so that when Knoah wears his brace, it will not be too uncomfortable.
5. Difficult to get babysitters. The clincher to allow Tonya to bring the baby home was that they be certified in CPR. Tonya and her husband both had to get certified.
6. Worries- What kind of life will he have? Will he walk, be able to go to school? Will he live a normal life and marry?
7. Daily living modifications to be made- for Knoah’s size, everything must be adapted. Clothes altered, a stool to reach in cabinets, furniture made lower, etc.
I am optimistic about their future. Turning her situation into a positive experience, she is communicating to others through the internet on her blog, recording day to day experiences. Others are communicating back to her looking for answers and guidance. She will get to mingle with others in her situation at the yearly conference held by the Roloff Family from the new show which has emerged, Big World Little People. She now knows God gave her this child to educate the world.

References

www.emedicine.com/ped/topic625.htm
Genetics home reference www.ghr.nlm.nih.gov/condition/achondroplasia
www.wikipedia.com
Tonya Sweat www.monroeblog.com