Aaron ..... From the Beginning

Well, where DO I begin?? I guess at the very beginning. My husband and I got married in November of 1994. Five weeks after our marriage I became pregnant with our first child. A mixture of emotions filled us both, as we were still really getting to know each other, finding security emotionally and financially as we began our new life together - as all new couples must do. I was excited, surprised, and scared all at the same time. Happiness was the over-riding feeling for me though. I’ve always loved children and knew I wanted a family of my own someday, and often envisioned what it would be like to get married and be a wife and eventually a mommy! My pregnancy was very smooth for the first 2 trimesters, and then I went into pre-term labor at 6 months. So, needless to say the next three months were difficult, but Adam was full term, taken only 9 days early. He was, and always has been, very healthy and happy. On Adam’s 2nd birthday, I had a miscarriage. This was a big shock, as I had taken a pregnancy test and it was negative. We weren’t trying for another baby yet, and again I had NO idea I was pregnant. I was probably about 5-6 weeks pregnant. It was fairly painless physically, as it was what ended up being a normal cycle for me. It would have been much more difficulty for me emotionally had I known I was pregnant all that time.

This story really begins here, in May of 1998. We were ready to start thinking about having a little brother or sister for Adam. Between 3 and 4 years seemed to be a good distance between children for us, so we tried and “connected” the first time. This would make the kids about 3 ½ years apart, and that sounded great to me! Again, the pregnancy was smooth, and I felt great. The day came for the ultrasound when you can determine sex if the baby turns right. Well, Aaron turned right, and there was no question as to whether the baby would be named Erin or Aaron. Adam would have a brother, Aaron! We were really excited, and Adam loved the idea of a new baby brother.

It was the next 15-20 minutes that I remember vividly as being the beginning of this “new and unexpected journey.” The sonogragher, after determining the sex, and also checking the entire body as they do, went back to his head, where she spent several minutes just looking... and looking. I didn’t ask any questions right then so as not disturb her, but I was inwardly disturbed, wondering what she was concerned about to spend that much time there. I finally did ask, and she said that it looked to her like there was a bigger than normal space for fluid in the 3rd and/or 4th ventricles of his brain. She was very calm about it and did not disturb us unduly, but felt it necessary to see a specialist whenever it could be scheduled. She told us that we’d need to be seen by Dr. J, as he was one of the best sonologists around. That made me feel good in the midst of this panic. The doctor wasn’t in that particular day, so we made an appointment, which I remember being several days later. They were LONG days for me to say the least!

We went for out first visit to Dr. J.  I felt as though we “connected” immediately in the sense of his caring and completely ethical nature. I felt very comfortable talking with him, and of course respected his expertise. He did a scan, and I remember on the first visit that what he THOUGHT Aaron’s condition was involved a missing vermis in the cerebellum. He said that he actually didn’t see it at all, which medically is called vermis agenesis. He said there was no real way to know if part of it might actually be there, but he “just didn’t see it.” The sonogragher who did the original scan worked with Dr. J and agreed with his thoughts. Vermis agenesis as an isolated thing is extremely rare, and Dr. J did a search on his computer that day, and found a few articles (with VERY little known information) about vermis agenesis. Of course my mind is racing a million miles a minute, but I was able to compose myself. Actually I was trying to convince myself that this must be wrong, and that “part” was really there. Then reality would hit, and I knew that a specialist wouldn’t say something like this if he didn’t feel there was a good possibility that he was correct. He did preface everything by saying that this is what he THOUGHT the situation was. We saw him a couple of other times and then he referred us to another doctor, an O.B. specialist in the same city, Dr. Williams.

Dr. Williams was the doctor who ended up delivering Aaron. From the time we visited him, he sort of took control of our “case”, and we only saw Dr. J another time or two. The most stressful part of the scans the two doctors were doing is that they weren’t seeing the same thing! We knew about the excess fluid in the ventricles, but Dr. J, as stated, didn’t see the cerebellar vermis, and Dr. Williams didn’t think there was a corpus colossum. That really shocked me and I knew that I couldn’t get too out of control about my frustration, so I really prayed a lot about it, and decided that maybe they were both wrong, and both parts were there! I chose to TRY to only be concerned with the fluid, which was something that could be seen and measured. The doctors never came to an agreement before Aaron’s birth.

We saw Dr. Williams for a regular visit somewhere about the middle of January. Aaron was due on Feb. 13th, so it took me a little by surprise when he decided to do the section in about a week, on the 26th. There were concerns about the strength of the placenta, the umbilical cord was “unhealthy”, and my fluid was low, as was the case in the first pregnancy. We knew the delivery would be C-section because we wanted the head protected, and also, he ended up being breech. So, all things considered, we’d let Aaron grow and develop as much as Dr. Williams felt was safe for him, and then go ahead and take him a few weeks early.

So, the big day has arrived. The surgery was scheduled for 8:00, so we had to leave in time to be there by 6:30. It was VERY cold, but no bad weather thank goodness! We got there checked in, and went back to start the prep. Todd was right there with me, and though he has a weak stomach in most cases, did wonderfully. He even got great pictures of him being born. I was really proud for his strong stomach! I guess when it’s your own son it’s different, huh! I remember feeling the tightness, and feeling myself being pulled back and forth a bit, and knew Aaron would soon see us for the first time. My heart smiled and cried as I heard his first very faint cry, and after a few minutes got to kiss him and hold him a few minutes before they took him to NICU. They wanted to take precautions since we really did not know what the situation would be yet. He was taken to the regular nursery later that day, as the neurosurgeon and doctors were “unimpressed” as far as any real problems.

He had a CT scan done at 2 days of age. I remember vividly listening to Dr. Sanders, the neurosurgeon telling us that both parts of his brain in question were THERE, and that “if this were his child, he wouldn’t fret.” He said we’d probably want to have a MRI done at about a year just for curiosity sake. He said that he wasn’t telling us that everything was exactly normal, but nothing to worry excessively about. I was SOOO relieved, and really couldn’t believe that both parts were really there. But who was I to argue. I was thrilled that we were taking home a healthy baby!

We stayed an extra day in the hospital due to feeding difficulties he was having. He didn’t seem interested in eating at all. He wouldn’t latch on to nurse, and when he did, the seemingly high roof in his mouth would cause the suction to break, and he’s get frustrated, and not try at all. Another aspect is that it took 10 days for my milk to come in. So, I was pumping only colostrum, and he was taking maybe 10 cc’s at a time! He lost significant weight, and the pediatrician (and I) wanted us to stay and resolve the feeding issue before he was taken home. We had to start supplementing with formula immediately (which disappointed me, but I knew we really didn’t have a choice). He lost from 6-lbs. 9 1/2 oz down to 5 lbs. 13 oz in those 2-3 days. He was able to suck better on the small bottles that hold 30 cc’s. He was taking 30 cc’s at a time by the time we left. He gained back enough that the doctor felt ok about letting us take Aaron home!

We had several visits to our pediatrician in our hometown for weight checks. He was really tiny, and wasn’t gaining very quickly. I remember getting a call from our pediatrician, Dr. Powell, who wanted to have a chromosome study done, and to be seen by a geneticist. There were things about Aaron that were “different” from the start, and she really felt that it warranted being seen by a specialist. The things we saw as “different” were his big toes being much bigger and wider relative to “fitting with” the other toes. When I first saw his toes, I just thought, “Well, he was 3 weeks early - maybe he’s just not quite “done” yet!”

The lactation consultant in the hospital told us that Aaron had a really high palate, and certainly contributing to his difficulty in sucking and swallowing. Also, since just hours after birth, he had what the pediatrician at the hospital called a little whimper, which he said he’d NEVER seen before like that. Aaron literally vocalized with every breath, and the breaths were very rapid. I about hyperventilated just listening to him. We were really concerned, but all of the doctors would just say, “It’s newborn tachypnea, and he’ll outgrow it.” I never bought that, and knew in my heart that there was something more to it, especially when he got to be 8 months old and it was still there, though much better. But still, he’s no longer considered a newborn for sure.

We saw the geneticist on February 15th at about the age of 3 weeks, and he mentioned Rubinstein Taybi Syndrome to us. I was really trying to concentrate and listen to what he was saying even though I was dying inside to think there was really something wrong with Aaron. After all, we left the hospital thinking all was just fine. I asked again the name of the syndrome, and made a concerted mental effort to remember that name - Rubinstein Taybi. He told us it was very rare. He said this is what he thinks Aaron has, and that he has some of the characteristics, but many he doesn’t have. From that point on in educating myself about RTS, I just thought that anything Aaron didn’t have, or didn’t experience, was just an indication that he was a “mild” case. So from February on, I found all of the information I could about RTS. I remember vividly the day I really realized that this is probably what Aaron has.  My mom looked up RTS on the net, and after Aaron was down for a nap I went and read about it.

My heart literally tore apart as I sat there and read about these kids and what is known about this syndrome. The first time I read the words mentally retarded I got numb all over. From that point, and for about 2 weeks following, I experienced what I know was my “grieving period” and coming to terms with reality. I didn’t want to get upset in front of my mom, so I acted like I needed to go to the mall and pick up something. I drove straight out to the school where Todd worked, and just prayed that he was on campus and in his office. Well, he wasn’t in his office, and in fact not even on campus. A couple of people talked to me, but I honestly don’t remember what they said or asked. I was trying so desperately to maintain control and not break down right there. One of the secretaries told me he was gone, and she didn’t know when he’d be back. I needed to talk to him so badly. I got back in the car, and decided to drive awhile. About a half-mile down the road, I met him headed toward school. I turned around and went back to find him.

He was waiting on me, and got in the car. I was so glad I didn’t’ miss him. He didn’t have any idea what was wrong. I broke down, and told him that I’d read details about RTS, and this really looks like what he has. I knew specifics about IQ potential, average height, ability to live independently, and most likely inability to have children. I was a basket case to say the least. Todd was really seemingly calm about things, and told me that “even if Aaron couldn’t give us grandchildren, he’ll give us many other things.” We talked about 30 minutes, and then I went back home after I felt composed enough. Little did I know that Todd really went through a tough time mentally about this, but felt like he needed to remain alright for my sake, so kept it to himself. I was glad when he finally opened up, though it took him a little while to totally come to terms with it himself, if that has even fully happened yet. Does it ever REALLY happen?

That was the beginning of a full two-week period that I was emotionally out of control. Aaron was the most precious little boy, and I couldn’t IMAGINE him not perfect in every way, and that he wouldn’t have the most normal and happy life, like Adam, our other son. I felt bad about being so engrossed in Aaron and wanted and needed to spend quality time with Adam. He really adjusted wonderfully to his new brother. To this day, he has never seemed jealous or “mistreated” when I’ve had to spend time feeding or caring for Aaron. It was amazing how my outlook seemed to change after that 2 weeks. It didn’t and doesn’t change the pain at the core of my heart for the fact that Aaron won’t experience life the same way Adam or any other “normal” child will. But, I no longer feel sorry for myself or for Aaron.

I owe this feeling of “peace” to the fact that I gave this totally to God, and I know everything will be alright, and He is much more in control than I could even THINK I am. It was strange how at that two-week period, I just felt this inner peace that I’ve never felt before, and I’ve never gone back to that feeling of total helplessness and hurt. One thing that helped me I guess more than anything was the parent support list I found on the Internet. There are almost 400 families in this group of families with children of all ages affected by RTS. That was literally my saving grace during this time of realization and coming to terms with all of this. It was literally a family to go to with questions, concerns, needing advice - anything you wanted to say or ask, and they’re there to respond and encourage you every step of the way.

Aaron was the youngest one at the time we got on the list. So many of the things that were discussed, I could shake my head, and say yes, that’s Aaron. But there were many things that weren’t like Aaron. Things like: severe constipation, needing g-tubes because of such severe feeding difficulties, undescended testicles, head circumference in the 5th percentile (Aaron’s has been in the 95th% since birth), and the “look” that these kids have. Aaron did NOT look like them. Again, I just thought, well this is just the mildness of his case, and we’re really lucky. We saw the geneticist again, and his partner who actually saw Aaron, again said that RTS did look like what Aaron has. I didn’t expect him to say otherwise.

OK, now it’s September 14th. We have now moved to Georgetown, KY, just outside Lexington. We knew about the geneticist here at UK, and what good hands Aaron would be in. That made me feel great. He saw him this day, and informed us that he does NOT think Aaron has RTS. In fact if RTS had not been mentioned, he never would have considered it as a possibility! No telling how big my eyes got on that one. I just couldn’t believe it. At the same time, it answered a lot of my questions about why no-one identified with his breathing, and fluid in the ventricles of his brain, testicles that were descended, bigger, not smaller head, and many other things. He said what he thinks Aaron has is called Joubert Syndrome, and asked if I’d ever heard of it. I told him yes, but didn’t know where or what it was. He told us a little about it, and also that it was very rare - 4 times as rare as RTS! I found out that the literature has about 200 known cases. So, I was literally back to square one as far as my knowledge about the syndrome and where to go from here as far as tests to be done and what things to rule out.

The doctor told us that to confirm Joubert, we’d need to have a MRI done, because part or all of the vermis must be missing. I immediately thought of Dr. J, but at the same time knew that he’s NOT missing any parts as far as the CT scan at birth was concerned. We scheduled the MRI and had it done on Nov. 3rd. What I really felt like had happened is that they didn’t look closely enough, or couldn’t see well enough on the CT scan, and maybe missed that fact that a portion of the vermis was really missing. We did find out the results that day.

We had an appointment about 3 hours after the MRI with the ophthalmologist who was to do eye surgery on Aaron the next morning, Nov. 4th. He walked down to radiology and saw the images and talked to the technician himself. He came back into the room, and told us that Aaron seems to be a “classic textbook case of Joubert Syndrome.” First question from me was, “What about the vermis?”  He said, “Total agenesis!” I had to have him repeat that, as I couldn’t believe what I was hearing - TOTAL AGENESIS?  I then realized that Dr. J’s instincts were correct right from the beginning.  That didn’t change the fact of his probable diagnosis, but what were they seeing on the CT scan?  Had they literally “seen something” that wasn’t, and never had, been there? That’s still a mystery to me.

We decided to post-pone the surgery because of his breathing (tachypnea/apnea) which has gotten better but definitely still there. There are serious concerns about administering anesthesia and the effect that it may have on his already abnormal breathing patterns. Joubert Syndrome perhaps has its own form of apnea. He never stops for more than 7-8 seconds at a time; thus it’s not apnea in the true medical sense, which I found is for 15 seconds or longer! That would really scare me! He’s never turned blue or reacted in a scared or urgent way about beginning breathing again. I would be very much more insistent on addressing the breathing with apnea monitoring or in other ways if that were the case.

I stay at home with the boys, and I wouldn’t trade this job for anything in the world. Aaron has therapy 4 times a week. He’s had early intervention since about 2 months of age. The misdiagnosis didn’t in any way change what we’ve done as far as his intervention or his ability to qualify for such services. It’s just been quite a roller coaster. I also have really tried not to lose focus of what a happy and healthy baby Aaron is. He has to be one of the most happy, content babies I’ve ever seen. Yes, he has his moments, but most cries are very purposeful. He is quite delayed with his milestones due to his low muscle tone. He has all of the cardinal symptoms of Joubert Syndrome. 1) Hypotonia  2) Vermal agenesis 3) Excessive fluid in the 4th ventricle of the brain 4) Abnormal eye and 5) Abnormal tongue movements.

He can’t sit up independently, get on all 4’s, crawl, etc. He does roll all around the room. He’s holding his head up a lot better for several seconds at a time while on his tummy. There is so much about the future that is unknown. We just take things one day at a time, and enjoy each day for what it is - a gift. I must educate myself as much as possible for Aaron’s best interest. From what I hear, much of the medical community is just now really becoming aware of this syndrome. It was discovered in 1969, but due to low numbers, follow-up studies in many cases just aren’t there. It’s just not common at all.

Aaron’s big smiles and sweet nature make it so easy for me to be happy and content with reality, though it’s not easy, and will never be “normal.” I also have thought lately how I must treasure these first couple of years, because I know that the time when walking, talking, potty training and all of the other milestones that come with age - are unknown for Aaron. Again, I don’t feel sorry for him anymore. I must be strong for him, and experience his milestones with him on his time clock. He wouldn’t want me to feel sorry for him. He has taught me SO many lessons about life already. He is a definite light in our lives. There is a connection with him that I can’t explain. Any parent can identify, but a special needs child certainly puts a new twist on that. He loves his big brother, and Adam surely adores him




One other piece of info about Joubert Syndrome, and I guess the most surprising thing we've found out, is that it's an auto-recessive gene that was passed to him by both myself and my husband. We did the math in the geneticist's office last week. Taking two people randomly who are married, there is a one in 275,000 chance that Joubert Syndrome would show itself. Todd and I were both carriers from one side of both parents. The gene hasn't been identified, so there's no way to know where it came from, and how many generations it has been passed before this 1 in 4 chance happened with Aaron. Interesting and crazy, huh??!??

This has become longer than I anticipated, but I guess that's the way it usually is when you're "telling a story from the beginning.†We are in the parents-in touch network for Joubert Syndrome, but would welcome any questions or information anyone has about this. It's still new to us in many ways. Though I know quite a bit about it, I don't have the luxury of a list like there is for RTS. I'm in the process of getting one started. I also have a list with all of the known families on it. Still, there is no way to contact all of them anytime like the list-serve for RTS. I've been back in contact with Dr. J though we have moved, and he's been a great help to us as far as information and support. Any information or news in the medical field would be greatly appreciated if anyone were aware of anything. I appreciate you staying with this story. I'd love to hear from anyone.


Kris, mother to Adam (4 years) Aaron (10 ½ months, Joubert Syndrome) and wife to Todd. whitelex@bellsouth.net

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