I spoke with Dr. Phillips today and he informed me that Jenelle's recent test results were normal. The tests included a study for metabolic disorders, a test for a chromosomal disorder called Praeder Willi Syndrome and a panel on her chromosomes for any abnormalities. Jenelle's chromosomes are a "46XX", which is normal for a female (would be XY if she was a boy! ;) This is really great news, we are so thankful, and yet, still no answers.

Also, on this day I scheduled Jenelle's ABR hearing exam for November 21, 2003. The hearing exam must be done while Jenelle is sedated, so again, like the MRI, there is a long wait. I spoke with the Audiologist yesterday, and she said we would have the results immediately after the exam, so that is encouraging.

They say to have a child with a disability is like going through the grieving process, because you "mourn the loss of the perfect child." Prior to getting the DNA test results, I really started to experience these emotions. Simple, everyday things like going to Babies R Us for formula, or going grocery shopping are a constant reminder that our 10 month old is not like other babies her age. I see parents with children "sitting" in the carts, pulling their parents hair, or tugging their arms, or pulling boxes off shelves - it is very depressing. For me personally during this time, I could be fine one minute, then crying the next. I will be happy while grocery shopping, and in tears when they ask if I want to "donate a dollar to Jerry's kids". It truly is a humbling experience. The news of the normal results is a great relief, but still we have a lot of questions. On a personal level for me, I have started to refer to Jenelle as a "special needs" child, which I feel may be a good sign that I'm learning to accept this challenge in life.

Just prior to Jenelle's well baby visit, I spoke with another Mom from our daycare who is a speech therapist. She asked me if Jenelle was having seizures, and I answered quickly, "No". She then asked, "Do you know what an infant seizure looks like?"... "Uh, no!" She suggested that I call Dr. Phillip's office and ask them for things to look for in an infant seizure. I made the call, and they provided me with lots of information, and suggested I keep a diary of Jenelle's behavior for the doctor to review at our next visit. Sometimes you can find a pattern. I learned that an infant seizure is not what we typically think of in a seizure, like a Grand Mal seizure in an adult. An infant seizure can be very subtle, and sometimes can only be detected by a stare or sudden widening of the eyes. Some infant seizures can have a jerk or two, like they are off balance, or can even be a change in breathing. A child usually does not have a full Grand Mal seizure until they are a little older.

Over the next few days, I started to notice some of this behavior in Jenelle, especially during meals and in the mornings. I mentioned this behavior to Dr. Patel at her well baby visit, and she told me to ask Dr. Phillips for an EEG exam (I don't know the technical word for it, but it is an exam that monitors the brain waves for seizure activity.) That night, I emailed Dr. Phillips with a description of some of the behavior I saw in Jenelle, and he responded quickly that he wanted to order an EEG, and he thought it was a good thing to explore. He also suggested we try to video tape some of this behavior.

Whether or not Jenelle is having seizures, we are not sure, but hopefully this test will give us some answers one way or the other. So, once again, on to the insurance authorization waiting game!

Jenelle saw Dr. Patel today for her 9 month well baby check up. We just love Dr. Patel, because she has been so concerned, and so involved in helping us with Jenelle's issues. Jenelle is weighing in at 22 pounds, and 29 inches - still in the 90th percentile for her age, which is great!

Dr. Patel is putting in for 3 referrals for Jenelle. I told her about the Occupational Therapy evaluation and their concern with Jenelle's tongue tie. We are being referred to a surgeon so Jenelle can get the tongue tie clipped. Not sure what that involves, but I hear its very easy to do. Jenelle is also getting a referral to an audiologist for a hearing test as requested by OT as well. And the final referral for Jenelle is to a physical therapist named Tim Healey. We were given his name by a friend and Dr. Patel had nothing but great things to say about him. She felt if he was covered by the insurance, it would be worth a consultation. Dr. Patel was concerned that Jenelle was only getting an hour of Physical Therapy a week and felt she needed at least 2 hours, but perhaps when the OT kicks in, that will make a difference.

Many of you have suggested we check out Jenelle's immunizations - there have been reports that immunizations can cause some of the delays Jenelle is having. Without getting too technical, Dr. Patel assured us that her office has been using the proper immunizations for over a year, so Jenelle would not have been affected by the immunization mixture (thimizerol) causing these delays. Dr. Patel said that in an infant with development delays, the immunizations are more important in order to build up her immune system. There are some concerns with giving the MMR (measles, mumps and ruebella) shot to infants with development delays, and Dr. Patel felt that when Jenelle needs her MMR (at her 12 month visit) it may be wise and safe to public services to have it done as they can give Jenelle the MMR in a separate form, spaced out on her body rather than all at once in one location. Yes, technical sounding I know, but it does makes sense to me. Brett actually started laughing because Dr. Patel and I understood each other, and he said he didn't know what we were talking about! ;)

So, Jenelle is doing well. She is not too big for her age, and she is showing some improvement, which is hopeful. Please continue to keep us in your thoughts and prayers. That means so much to us right now.

Jenelle had her initial occupational therapy (OT) evaluation today with two therapist from The Children's Therapy Center. This evaluation was done so we could get authorization from Regional Center to start Jenelle on OT in addition to her Physical Therapy. OT is therapy for "fine" motor skills.

I'm so ashamed of myself. They asked me to fill out some paperwork, and here I am all ready to write down everything Jenelle "isn't" doing, and the first question on the form was "What are you child's strengths and qualities?" ... WOW, I guess I haven't been thinking in that perspective! It took a long time to think about it, but Jenelle does have strengths and qualities. She is an easy baby, sleeps well, adapts to any environment, and is improving with her physical therapy. She can suck her thumb with the best thumb suckers and is generally a very happy, content baby. And, she is very beautiful, though I'm sure I'm very biased.

Getting back to the evaluation - Jenelle qualifies for OT, not a big surprise there. One of the new things we discovered is that Jenelle has a very thick tongue, and very tight cheek muscles. This is not only going to cause a speech delay, but will inhibit her eating ability. They asked me to spoon feed Jenelle and watched her eat. She eats by using her tongue mostly, and does not use the chewing motions that most babies her age are learning. Jenelle has always been "tongue tied" (where the bottom part of the tongue is fully attached to the bottom of the mouth) and our pediatrician has been against having it cut. They recommended Jenelle have it cut as the tongue tie will only inhibit her ability to progress. Her 9 month well baby check is coming up, so we'll mention it at that time.

Oh yes, and the really great news to report is that Jenelle is finally rolling! She discovered and mastered the ability to roll from her tummy to her back, and sometimes rolls all the way across the room, only stopping when she gets caught on the corner of the couch or TV. I think she is enjoying this as a way to explore and discover her world. Brett and I have noticed that Jenelle's delays have been consistently 4 months behind the time when Jack started doing these things. We can only hope that pattern continues. She has also started to "swim around" on her tummy in an effort of what looks like the beginning stages of crawling. I'm sure that is a ways away, but its great to see such improvement. Physical Therapy is most likely the cause of this great improvement!

Jenelle saw Dr. Phillips today for her follow up after the MRI. While we were hoping for some further explanation about the MRI results, and maybe some more answers, Brett and I left feeling more confused than we were before we got there.

The really great news (that we already knew) was that Jenelle's MRI was normal. While that doesn't explain the cause of her delays, it does answer a lot of questions to the neurologist, and rules out a lot of really bad things. Among the many things, we have ruled out stroke, brain damage, cerebral palsy and brain tumor. We realize that we are very fortunate to have such a great result. Dr. Phillips talked a long time with us about "further testing" and where we go from here. He believes there are a few more tests we can do to rule some other things out, but that Jenelle's situation might be a case where we may never find a "diagnosis". Also, at this point, any "diagnosis" is something that doesn't really have a cure, so we should continue as we are with the therapy as that is really the only thing that is helping. Nothing indicates that Jenelle's condition is life threatening.

Dr. Phillips explained that we should treat Jenelle like a "normal" child, and that she will be able to do "what we expect" of her. So, if we carry her around, and treat her like a child that belongs in a wheelchair, she will be a child in a wheelchair, and so on. He also said Jenelle was "going to be who she was going to be", which really didn't make much sense to us. I'm not sure if he was trying to give us a dose of reality, or trying to sugar coat the situation, but it was obvious he was trying to say that we may never know exactly what is "wrong" with Jenelle. Brett and I are fine with that, but we do understand how some parents feel in this situation, and how it would be better if we had a "name" for what is "wrong" with Jenelle. We want to do some more tests, but how far we will eventually go in that process we do not know at this time. We know that we are fortunate that Jenelle is happy, healthy, and very loved.

Dr. Phillips is going to run some more tests including genetic and metabolic tests to further rule out other possibilities. He is also testing for Prader Willi Syndrome, a specific chromosomal disorder that effects the hypothalamus in the brain. He told us not to research it or worry about it (yeah, right) as it was just something he wants to rule out. They had to take blood and urine for the tests, and that was quite an ordeal that took all day. For her blood test, they had to poke her twice (tough to find a vein on her chubby arms), and took 7 small viles of blood. She was such a trooper, and handled it well without any anesthesia. Obtaining the urine sample was another difficult task in that they had to apply a "bag" to her and hope that it would catch her urine in her diaper(I would assume this is easier for little boys.) When I brought in her first sample, it wasn't enough, so we had to wait another couple of hours to get some more. Eventually we got enough for the lab - but it wasn't easy trying to make a 9 month old "pee" on command!

Jenelle's next appointment with the Neurologist is in 4 months (November). Jenelle is really doing well in her physical therapy, and may be starting occupational therapy in the next few weeks. That is encouraging!

Brett spoke on the phone to Dr. Phillips today regarding Jenelle's MRI results. Jenelle's MRI was"normal", but it still leaves us with many questions about her delays. The good news with this is that we can rule out any brain tumor or other significant problem. I'm sure we'll get more details from Dr. Phillips at our next appointment on July 22, 2003.

Later, Jenelle saw Dr. Florencio Ching for her initial Opthamology appointment. She was such a good girl during the exam and only fussed once when he had to put drops in her eyes to dilate them. Dr. Ching examined her vision and said that she appears to be farsighted. Upon examining her eyes after being dilated, he said everything was normal, and that the optic nerve and retna were attached.

Dr. Ching felt that Jenelle's vision is "developmentally delayed" - it should be better for her age, but at this point, her vision is still in the development stages, so it is a little early to diagnose a problem, if any. He reviewed her MRI report and said there was nothing there to indicate a vision problem.
Dr. Ching will see Jenelle again in 4 months to assess her vision at that point. Overall today we've received good news, but also we still have a lot of questions unanswered.

Jenelle had her MRI today. It was a very long day, but overall she tolerated it very well, and she was just perfect! Though Jenelle was a trooper, the day wasn't flawless. I'm a firm believer that the many prayers and positive thoughts everyone has been giving Jenelle helped our luck today.

The whole event started the night before when I tried to keep Jenelle awake as long as possible, and fed her a large meal at around 10:30 p.m. The pre-op instructions said that she could not have any "solids" after 3:30 a.m., and nothing at all after 7:30 a.m. I put her to bed at 11:00 p.m., and woke up at 3:00 a.m. to give her a bottle of formula. My goal in keeping her up that late was so that she would sleep most of the morning time when we couldn't feed her. It worked like a charm. I also woke her up at 7:00 a.m., and gave her a few ounces of pear juice - she was so sleepy, she didn't even take the whole bottle.

We arrived at St. Joseph Outpatient Pavilion and checked in at 9:30. Jenelle's MRI was scheduled for 11:00 a.m., but for whatever reason, we had to be there at 9:30. She was starting to wake when I approached the front desk at 11:00 to find out what was keeping them from calling her back. Apparently our room had been given to another child in need, and we were next on the list. Soon we were taken back to another waiting area to wait for a nurse to come out to give us some details. As this small waiting room began to fill up with other patients that were waiting behind us, we realized something was wrong. Soon the nurse came out to tell us that the MRI machine was broken, but that they had a repair person there who could hopefully fix it. Jenelle was awake at this point, but not fussy, so we opted to wait a little longer.

Another half hour later, the nurse came out to tell us that they were still working on the machine. At this point we asked her to look into what appointment times we could get if we rescheduled. The two other patients behind us were older (ages 3 and I think around 7), but they too were getting hungry. Another half hour and the nurse came to tell us the machine needed another repair person, and we would have to reschedule. At this point, even if the machine were fixed, we lost the anesthesiologist for the day. The nurse went back into the room again to get the schedule, and then returned to tell us they had an opening across the street at St. Joseph's Hospital, and they would take Jenelle and one other patient immediately. What a relief!

We then walked across the street to the hospital, and they took Jenelle into the pre-op room to prepare her for the anesthesia. We gave them some history, changed her into a gown, signed information forms for both Brett and I, and then took off all of our metal jewelry - apparently the MRI uses magnetics, and you can't have any metal on at all, or it might come flying off. The Anesthesiologist spoke with us briefly about the procedure, and said we could be with her when he used a gas mask to put her to sleep, but that we had to leave as they administered her IV. The IV was necessary not for anesthesia, but to pump diagnostic fluid into her so that her vascular system would show up on the MRI. We were told this was an important tool when searching for tumors. He also warned me that with her chubby arms and legs, it might be difficult to find a vein.

I held Jenelle as we walked her into the room and placed her onto the MRI machine. The doctor held a mask over her face, and she tried to wiggle away, but eventually she fell asleep with her eyes partially open. Brett and I then left to wait for the doctor to get us once the MRI was complete. After about 40 minutes, we were taken to the recovery area, where Jenelle was alert and cranky. The anesthesiologist told me to hold her because her smelling me and feeling me so close would help her to calm down. They told us the anesthesia would make her cranky for about a half hour, but then she would settle down and be sleepy the rest of the day. I gave her a bottle and once they removed her IV, she was calm and no longer crying. I asked the doctor if they had a difficult time trying to find her vein, and he just smiled and said, "yes"... apparently, from the marks on her arms and legs, it took about 5 pokes to finally find a vein. Fortunately this was done after she was asleep. Once she was released, we took her home and she ate again 2 hours later and went to bed early that evening. I expected her to wake up that night, but she slept though the night and into the late morning the next day.