A "Cure" for Down Syndrome?

Interesting medical research has surfaced concerning the future of Down syndrome.

In the lab, researchers have been successful in shutting down the extra chromosome that causes Down syndrome. By injecting a gene called Xist into a human cell, the function of the extra chromosome can be silenced. The procedure has not yet been tried in full human bodies, although testing has begun on mouse models of Down syndrome.

Experts are calling this a landmark finding, technological breakthrough, and hope for the future.

But among parents, feelings are mixed.

They speak of excitement over the possible removal of health risks like leukemia and dementia, but express unease over the thought of changing what makes our children unique.  One parent questioned whether this would be forcing society's expectations of what constitutes a "worthy life" on a group of people who are otherwise happy and satisfied with their lives.

And then there was my favorite response of all:

I know this is a serious issue but I must admit that I am a bit distracted thinking about a mouse with Down Syndrome! If I were getting a mouse, I would definitely choose that one! I wouldn't change my Lori for anything in the world! We love all 47 chromosomes and wouldn't want anybody to turn off any of them! --Robin

Like others, my feelings about this medical breakthrough are conflicting.  My thought process leads me, once again, to the question I have never satisfactorily answered:  

Is Down syndrome something Wade has or is it something he is?

While I know that an extra chromosome does not define him or his potential to contribute meaningfully to society, I still find it hard to separate that 47th chromosome from the rest of his being.  In many ways he is like us, his biological family; in many other ways he is like those with Trisomy 21, his chromosomal family.  I cannot separate the two and still picture the whole person of Wade.

And so I wonder.

Would silencing the chromosome also silence the unconditional love that I admire?

Would it change the beloved way he runs a bit awkwardly like a lopsided leaf fluttering in the wind?

Would it make his speech easier, but his language tarnished?

Would it impair his delight in the common, his gratefulness for the least?

Would it take away his extreme cheerfulness in the (very) early morning?

Would it trade his inherent trust for the daily fear that stalks the rest of us?

Would it remove his gift of innocence and replace it with a sophisticated knowledge of evil?

Would it silence the familiar and give voice to a stranger?

Would it censor the way he says suddenly and often, "I love you too, Mom" for no reason, no reason at all?

Would an easier life be worth the price?

And I know in my heart that if  those questions are answered with yes, then the price for a "cure" is one that is too terrible to pay.

Bye-Bye Adenoids; Welcome Back Tubes

We've been fighting fluid on Wade's ears again for over a month. He was on antibiotic in October, but at his November appointment the fluid was back (or had never left).

So he had surgery today to have his adenoids taken out and the third set of tubes put in.

In spite of being on antibiotic, his right ear was still very full of fluid, which appeared to have been sitting there for some time. The tube was also out of his left ear, but a perforation remains which is larger than the hole for the tube would be. So the doctor didn't replace the tube in the left ear, but treated the hole to encourage healing. We will have to watch that ear more carefully now because of increased risk of infection.

His adenoids were very large, so it was a good thing to have them taken out as well.

And in order to make sure I worried properly before surgery, Wade managed to have an allergic reaction yesterday to the antibiotic he was taking. Big, lumpy, itchy, red hives which were still itchy, lumpy, and red this morning.

But now we're home and doing fine, thanks to God, the prayers of friends, and a terrific doctor.

And Wade is joyfully singing.

Did you know that songs with no tunes can be utterly beautiful?

Can You Hear Me?

Does this look like a boy who has sinus congestion and fluid on his ears? I didn't think so either.

But fortunately, Wade is equipped with a vigilant speech therapist who picked up on the fact that he wasn't following familiar two-steps directions last week because he wasn't hearing properly.

We had an appointment with the ENT today who told us that Wade's second set of tubes are no longer functioning, resulting in fluid on his ears from his allergy-related head congestion of the past week and a half. So after we see how the antibiotic works in getting rid of the fluid, we'll have a follow-up appointment to discuss having the third set of tubes installed.

It can be very difficult for me to tell when Wade has fluid on his ears because of his unfailing patience and pleasant disposition. But we have been told that hearing through fluid is sort of like hearing underwater. I can't imagine how annoying that would be.

It seems that if he doesn't have functioning tubes, he has continual fluid on his ears. And continual fluid left untreated can cause conductive hearing loss as well as sometimes irreparably hindering speaking skills.

So get those ears checked routinely!

Wade has appointments at the ENT every three months, but most of the time hasn't even been able to go that long in between visits. This summer was good for him with the tubes still in fine shape and with all that pool time helping to keep his very tiny ear canals cleaned out. But allergy season and winter are not great things to face without functioning tubes.

Even though I am learning what to watch out for, I still can easily miss clues with a child who doesn't complain. I thought that certainly his tubes would still be in good shape since it's only been about seven months since surgery. But I was wrong.

Thank God for those wonderful people called therapists to whom our child is more than just a job!

Kindermusik

We've finally found a music therapist for Wade. Music is one of his great loves and, therefore, provides a perfect opportunity for teaching. Right now we are hosting a Kindermusik class at our house every week with some little friends, and then will continue on over the summer with one-on-one music therapy. Wade is absolutely delighted.






Wade had day surgery again in March to have the tubes replaced in both ears after fighting with congestion and fluid all winter. It didn't take long after surgery for me to tell a big difference in his ability to reproduce sounds accurately. We've been told that hearing through fluid on your ears is like hearing underwater.




Somehow, I don't think our other boys would have been so utterly happy with this much ear trouble. Wade's pleasant disposition can make it difficult for me to tell if something is wrong with him or not.
I often wonder how much people would be willing to pay for the gift of being so radiantly happy almost all the time!

More Injections

Wade had more injections Tuesday which went well. The Doctor was pleased with how his hand looks so far and thought he might not need the third set. We will, however, have to schedule the injections anyway in six weeks and go in (at 6:00 in the morning, no food after midnight) as if he were going to have them. Then the doctor will evaluate after we get in there and hopefully send us back home.

Day Surgery

The Gloved One

The Gloved One ready for Kenalog injections


Coloring out the frustrations of a long wait



At last, ready to go



After waking back up, not feeling so great

Home again, food at last!

The Other Gloved One

Wade has been wearing a Jobst glove to help counteract the scar tissue from his burn, which has thickened on the top of his palm and on his third finger. Today he also had steroid injections done which will help to start breaking up the scar tissue. He will likely have the injections done three times, six weeks apart. He was sedated for the procedure because the injections need to be placed very precisely and are painful.

PROGRESS

Wade continues to thrive at his own pace. His accomplishments are full of joy for us as well as for him.






He is now getting therapy two or three days a week. Speech and occupational are every week and physical is every other week at this time.






When Jesse moved away in August, Laurie became his new OT.






Wade is always sociable and unafraid of strangers, but I could tell that he was unsettled during the transition until a routine was established with the new OT.






He can now walk without support up and down the little stairs Nevin built for him.






He is learning to jump, but still locks his knees most of the time because it makes him feel safer that way. But it's very difficult and jarring to jump with locked knees. Try it sometime.






He does a great job with shape sorting and simple wooden puzzles.






He is learning to string beads.






He is trying very hard to learn to take lids off. (Hmmm. Is that a good thing to encourage at this point?)






Another scary thought is that he almost can work doorknobs properly.






His speech is progressing slowly. He voluntarily puts two signs together to make two-word sentences. He signs, "Eat sandwich" and "More cracker".






He is also getting much better at saying different sounds and some recognizable words. Just this week he said very clearly multiple times the words nice, ice, night,and light.






Before this he would sometimes come out with a new perfect word now and then, but not be able to repeat it consistently.






Mostly he loves words beginning with B and if he can't figure it out any other way to say a word, he thinks the word Bap should express it all.






He has had several colds along with croup and a sinus infection this winter. As a result, he learned to blow his nose nicely. (There's always an upside!)






And in October he learned what hot means the hard way when he touched our glass fireplace door and got second degree burns on the palm, fingers, and thumb of his right hand.






I never wanted to have an acquaintance with the burn unit other than to provide meals occasionally. But that's where we got sent for some temporary skin grafting.






His burn has healed nicely, but I am still massaging it with lotion every day to help the skin renew itself without scarring.

A Week in the Life of Wade

Monday: Wade goes to see his eye doctor.


Tuesday: Occupational Therapy in the morning. Upside of Downs support group meeting in the evening.


Wednesday: Physical Therapy


Thursday: Service Coordinator comes to visit


Friday: Speech Therapy

More Doctor Visits

Last week Wade had two doctors’ appointments. The first was his regular six-month check-up with his pediatrician. He got his shots and had blood drawn for the leukemia and thyroid tests. Both tests turned out fine. He ended up getting stuck with needles five times that day. He was very patient with all the proddings. As always, it’s probably harder on Mommy than it is on Baby.

The second appointment was with the eye doctor for a six-month eye exam. The eye doctor had something that looked about like a flashlight with blinking red and green lights that he shined into Wade’s eyes. From his evaluation, Wade has perfectly normal vision for someone his age.

Busy Month

Christopher & Wade

Randall & Wade

March is a busy month for Wade. We have to keep our little black book handy to stay on track with all his appointments.

Last week we took Wade to Dr. Flannery, doctor of genetics, for what we thought was our last meeting with him. Dr. Flannery had said that he wanted to see Wade once more after the sedated hearing test was completed. Of course, because this is the Medical College, there are always students in training who come in and look at Wade also. Wade kicked his little toes and smiled at all who peered at him. Everyone always laughs at how chubby he is and how his hair always seems to stand up no matter what we do with it. Before Dr. Flannery left the room, he patted Wade’s hair and said, “You need some hair gel!”

Dr. Flannery had initially seen us in order to get all of the gears meshing so Wade would receive all the therapy/medical attention he needed in timely fashion. Now, however, he told us there is really no reason for him to be seeing Wade any more, but he’d like to see him again in 3 months. We have no idea why. Who knows, maybe MCG is short on genetic abnormalities to study! It is very interesting for us to hear their observations about Wade’s progression. They are always extremely pleased with how well he is doing. Dr. Flannery did order another thyroid test and another CBC to check for childhood leukemia. Down’s children have a greater risk of having thyroid trouble, so Wade will be checked throughout life for that—once a year from now on if this test is normal. He had the childhood leukemia test done as a newborn and will have it repeated several times until he is three years old. I think the risk of this type of leukemia in Down’s children is 1%. For someone to have it after three years of age is extremely rare.

Wade also had a check-up with Dr. Vickery, the ENT last week. His ears with the tubes in look fine. Wade has very tiny ear canals (common in Down’s babies), making it extremely difficult for someone without proper equipment to check his ears. Dr. Flannery had tried to look in Wade’s ears, but couldn’t even see the whole ear drum. He wondered how Dr. Vickery was ever able to get tubes into such tiny ears. When we told Dr. Vickery what Dr. Flannery had said, Dr. Vickery laughed and said that he was “sweating bullets” until he finally got the tubes inserted. We hope that Wade’s little ear canals and Eustachian tubes will grow as he does, thus reducing his risk of ear infections and fluid. For now though, Dr. Vickery will see him again in three months. The tubes should stay in for a year.
Next week we have appointments with Dr. Jones the pediatrician (for a regular six-month check-up, shots, and the bloodwork ordered by Dr. Flannery) and Dr. Brooks the ophthalmologist (for a six-month eye exam).

Wade's Big Day

Today was a big day for Wade. We had to have him into day surgery by 6:00 a.m. for his scheduled ABR to determine how well he is hearing. Taking advantage of the sedation, the ENT also performed several other procedures. The Speech Therapist had mentioned that Wade had a restricted frenulum (tongue-tie). She felt that he was compensating well for it, but thought that since he was going to be sedated anyway, we might as well get it clipped in order to have all his speaking tools in top-notch condition. Wade probably gained another centimeter of mobility by clipping it.

The ENT also performed a laryngoscopy because of Wade’s history of squeaking during and after eating. (Since Wade has been on acid-reflux medicine though, the squeaking has almost completely stopped.) The laryngoscopy revealed a perfectly normal voice box and no noticeable erosion at this point from the acid reflux.

Wade’s ears were very full of fluid again though, so before the brain stem response test could be done, he had to have tubes put in both ears.

Then the audiologist took over with the ABR which took about 45 minutes. And we just can’t stop smiling because the test revealed that Wade has 100% normal hearing in both ears. Thank God many times over!

I know there were people praying for us today.

Wade did so well with the whole procedure. The only crying he did was for the first 25 minutes after they brought him back to his room. He was very hungry and would eat a little and then sob, eat and sob. Then he slept for an hour until we woke him up by dressing him to go home. We were home here by soon after 11:00 which was much sooner than I ever dreamed it would be. Wade has been very sleepy since then, but happy and smiling during the moments when he’s awake.

Now the only other health test he has to pass will be another vision test when he is 6 months old.

-- The Lady --

Four Month Checkup

Wade - 4 Months

We took Wade to see his pediatrician on Monday for his four month checkup. They use a different set of growth charts for Downs children. Wade is doing very well on the Downs charts. In fact, Dr. Jones said he is even doing fairly well on the regular charts. We can tell he is a little smaller than our other two were and a little weaker, but he is doing really well. We are so pleased with his progress. He also got 3 shots again this visit. Karen says he didn't seem to mind them as much as the other two boys did.

1st Post of '07

In this photo, Wade is doing a good job sitting up by himself. Back in October I posted a similar photo of Wade sitting in the same chair. However, in that photo the chair was actually lying on its back on the floor, so even though it appeared he was sitting in the chair, he was actually lying on his back. Now he can sit upright. At least long enough to snap the picture.

On January 4 we were pleased to be visited by the Milford & Joyce Yoder family from N. Dakota along with Joyce's parents, the Harry Brenemans. Milfords have 3 children and their youngest son also has Down Syndrome. His name is Kerwin, and he's 2 years old. We had a very enjoyable time visiting and hearing of their experiences dealing with Downs. Kerwin is doing well. He just recently learned to walk. He was a real cute guy and fun to watch how he interacted with others. I meant to get a picture of them while they were here, but I forgot.


On the 9th we took Wade back to see Dr. Flannery at the Children's Medical Center at the Medical College of Georgia. Dr. Flannery is a geneticist. He thought Wade was doing exceptionally well and wants to see him again after we have the hearing test, etc. done in Feb. Dr. Flannery said that if everything looks good then, that we won't have to see him anymore.

Wade's Update

Wade converses with Cecily G.

We have been waiting to hear from Wade's ENT doctor regarding his upcoming hearing test. Dr. Vickery did call recently and told us that he had been in contact with the audiologist at University who will be performing the test, and they were in agreement that Wade would have to be sedated in order to do the test. They generally don't like to give infants anesthesia unless absolutely necessary. Dr. Vickery's advice was to wait until Wade was 5 or 6 months old to lessen the risks of the anesthesia.

The procedure is scheduled to be done soon after Valentine's Day.

Wade also has a problem with silent reflux. Along with that, he makes these funny squeaking noises during and after nursing. When he is sedated for the brainstem hearing test, they will also look down his throat to evaluate what is going on with his esophagus and voice box.

One of his therapists recommended that we have Wade's eyes checked also while he is sedated. She said two of her Down's children had to be sedated in order to have their eyes checked at 6 months of age. I am waiting to hear back from Wade's ophthamologist to see if he wants to do that or not.

Wade Got Shot!

Three times! Poor boy!
On Monday we took Wade to see his pediatrician. It was just his normal 2-month checkup. I was impressed by the nurse who gave him his shots. She got all 3 syringes lined up, band-aids ready, told Karen to hold him down, and wham, wham, wham she was finished! I honestly think it only took 3 or 4 seconds from start to finish.
No. The third shot was not in his belly button. Dr. Jones just put some silver nitrate on his belly.

More Hearing Tests

Today we took Wade back to his EN&T specialist, Dr. Vickery. Since our last visit, Wade has been on a round of antibiotics to try to clear up the fluid that was in his ears. It must have worked because Dr. Vickery said he couldn't see any fluid.

They tested each ear three times. The last time that was done, the tests showed normal hearing at certain frequencies but not at others. This time they said the tests were all varied and showing different results with each test.

Dr. Vickery is going to send us back to University Hospital Hearing Center where they have the capability to perform a more advanced test called a "BERA".

Brainstem evoked response audiometry (BERA or ABR) involves sophisticated, computerized equipment. Sounds are placed in the ear, and the brainstem's response is recorded from electrodes (similar to electrocardiogram electrodes) that are taped to the patient's head. This testing is extremely helpful in:
Distinguishing sensory (inner ear) from neural (nerve) causes of hearing loss
Helping to localize problems in the brainstem auditory pathway

Determining the ability to hear soft sounds, in selected cases

To do this test, the baby has to be sleeping soundly. If the baby cannot be tested while asleep, then he must be sedated with oral medicine or in some cases even anesthesia. We will probably make an attempt at scheduling Wade's appointment at naptime, but we don't have much faith in his ability to sleep through the test. He doesn't like having objects inserted in his ears.

Wade has really started smiling at us this week, although I haven't been able to catch it with the camera yet.

Heart Checkup

Today we took Wade to see Dr. Henry Wiles at MCG's Pediatric Cardiology Center. They did an EKG, an echocardiagram, and poked, prodded & listened, then pronounced him to have a perfectly normal heart. Praise the Lord! We are so happy!!

Hearing Checkup

Wade is getting chubby

We took Wade to his appointment with the Ear, Nose & Throat doctor today. They did several more electronic tests and checked for fluid in his ears. They did find fluid in his ears, so the doctor prescribed antibiotics to try to clear that up. The hearing tests revealed that he can at least hear certain frequencies at a normal level in his left ear. The right ear wasn't quite as good but did get normal readings from some higher frequencies.

The doctor said that until we can get the fluid cleared up, the hearing tests will not be real accurate. We are to go back again in 3 weeks.

Basically, we felt encouraged by the report and hope to find more positive results when we go back next time.

Medical Update

Wade with Randall & Christopher

4 days old – We took Wade to an audiologist to have his hearing tested. He had failed the initial test at the hospital when he was born. He failed this test as well. The audiologist wants us to bring him back when he is a month old. At this point we have not found out about the Down’s diagnosis.

8 days old – Wade visits Dr. Jones (pediatrician). Blood is drawn for testing. Dr. Jones discusses some of the implications of Down Syndrome with us.

10 days old – We take Wade to a pediatric ophtamologist. He doesn’t see anything wrong. Wants us to bring him back when he is 6 months old. I think Wade is the youngest patient this Dr. has ever seen. He acted like he wasn’t sure what to do with a baby that young.

2 weeks old – Visited pediatrician again to check weight gain. Wade is slightly under his birth weight. More blood is drawn for testing. Someone let the last batch set out too long.

3 weeks old – Went to visit Dr. Flannery at MCG’s Childrens Medical Center. He is a genetics doctor. He and his assistant, Carolyn Lovell were both exceedingly helpful in talking with us about Downs, telling us what to expect, and answering all of our questions.

3 weeks old – Went back to pediatrician. Wade is gaining weight just fine. He has passed his birth weight.

1 month old – Back to the audiologist for a third hearing test. This is a basic electronic test that is done on all infants at the hospital when they are born. Wade does not pass it this time either. Somewhere between 40 – 60% of Down’s children have some hearing loss. The ear and ear canal tends to be smaller in these children, which increases the chances of problems. Our next step is to take Wade to an Ear, Nose & Throat specialist for further testing and evaluation.

This coming week we have an appointment with the EN&T doctor on Wednesday. On Thursday we have an appointment with a pediatric cardiologist at MCG for a heart checkup. Approx. 50% of Down’s children are born with heart defects. The doctors who have listened to Wade’s heart have said that they do not hear any problems. Pray with us that his heart will check out normal.