Great Weekend!

Well, we had a really wonderful weekend. We had a special visit from my friend Adrianne and her daughter Cecilia. They drove all the way from Columbus to spend part of the weekend with us. We were able to check out the Center for Puppetry Arts, the playground at Centennial Park, Johnny Rockets, and the park near our house. It was the first time in a long time that Samantha and I were able to venture out for a date to somewhere other than the grocery store or Willy's.

The Center for Puppetry Arts was an interesting experience. Samantha enjoyed seeing Big Bird and Elmo, as they have the Jim Henson puppets on display. The group wasn't a huge fan of the puppet show itself. The Adventures of Little Noodle was somewhat disappointing in its message on food choices and body image. The girls were well behaved and I would definitely go back with a little more research in to the puppet show ahead of time.

The playground at Centennial Park was amazing. I had no idea how extensive it was. The girls had a fun time exploring the various apparatus, riding the swings, and running through the wide open green space. I will definitely plan on taking Samantha and Alli down there more often. It was well worth the cost of parking.

Cecilia and Samantha are only 3 days apart in age. They were fast friends and had a great time together.

It was sad to see our friends go this morning, but we wish them a safe journey on to Birmingham, Memphis, and New Orleans.

Alli enjoyed some fun family bonding time with Daddy while we toured around the city. She has had a pretty good weekend. We are still seeing intermittent spasms, but she seems to be getting some personality back. She has been cracking a few smiles and smirks at us and has been more engaged in her toys. We gave her the last dose of prednisolone and increased her dose of vigabatrin at the end of last week. We will continue to go up on the vigabatrin until we see the spasms stop completely. We'll see how the next couple of days go.

I spoke with the neurologist regarding the results of her MRI last Thursday. Her scans show that she is microcephalic and has micro hemorrhages on her brain. I need to look at a copy of the MRI report in order to interpret what all of that means, but for the time being it means that her scan wasn't completely clean. Her cardiac scan looked better than the doctors anticipated. We will discuss that with them in greater detail at our appointment on the 20th.

We hope everyone had a nice weekend and has a great week!

Enjoy the attached pictures!

Medically Fragile?

Shortly after Alli was born, Jason and I joined the Down Syndrome Association of Atlanta. Ar the time I felt it was like the Golden Key National Honors Society or Beta Alpha Psi, just something you did if you qualified for it. I never imagined how invaluable this decision would become. From the DSAA we learned about DADS, which, as you might guess, is a group of Dads that have children with Down Syndrome. They meet once a month (over beers, of course) to discuss what is going on with their children, share pertinent information about what is going on in the down syndrome community (both local and at large), plan fundraisers, and ultimately share advice and resources. I mentioned to Jason that he might think about going and was pleasantly surprised when he agreed to check it out. Thanks to his involvement in this group, we learned about infantile spasms from an email chain. Ultimately that helped us to obtain Alli's initial diagnosis and seek immediate treatment.

The DSAA also puts out a regular newsletter. When Alli was in the hospital back in January I happened to be reading through the articles and came across a narrative written by another DSAA member whose daughter had suffered through infantile spasms and had congenital heart defects. She described her daughter as 'medically fragile' and was speaking to the lack of support resources within the down syndrome community for families of medically fragile children with down syndrome. I remember debating with my mom about whether Alli was 'medically fragile' enough for me to reach out to this mother. I felt like maybe we had caught everything just in the nick of time enough with Alli to avoid status as 'medically fragile.' Once Alli was readmitted to the hospital again in February with the relapse of infantile spasms I decided that she had at that point met the quota to be considered 'medically fragile' and indeed reached out to this mother. What a wonderful support she has been! She understands what it is like to go through this. She shares resources. She checks in on me to see how things are going. She is truly an angel in disguise. The week I met her she organized a dinner at her home for Jason, me and Alli to meet two other families of children with DS and IS and we sat and talked over pizza about heart surgeons, neurologists, various courses of treatment, therapies, etc. It was amazing and something I will be forever grateful for.

I am hopeful that at some point, in the somewhat near future, we will be able to enjoy other aspects of the DSAA. They host wonderful social and educational events for families. I am also hopeful that I will have the courage, as this other mother did, to reach out to other families that have medically fragile children and help them see the light at the end of a very dark tunnel.

Speaking of light in the tunnel...we are seeing some hopefully good results from the vigabatrin. This week we have noticed Alli starting to track objects and faces again on a pretty consistent basis. She has periods of occasional vocalization. AND it appears as though she is trying to smile again. Today, Megan told me she rolled from her back to her side without any assistance. All of these are indicators that things should be moving in the right direction. Please pray that we stay on this path and are able to completely eliminate these seizures from ever coming back. We are still witnessing occasional mild jerks, but they are becoming more mild and infrequent.

In other good news, Alli was able to complete her MRI yesterday. She made it through anesthesia with flying colors and had 3 different scans. She had a scan of her brain and orbits, a cardiac scan, and a scan of her brain and orbits with contrast. We should hopefully have the results from the neurologist at our appointment tomorrow and from the cardiologist at our appointment in a couple of weeks. Thank you for all of the prayers that were said for her yesterday.

Samantha continues to do well. She is sad that her "nanny" (grandma) is gone, but looks forward to another upcoming visit soon! She is starting to talk in sentences now, as opposed to one word phrases. Her latest is "I hold you." Which means she wants me to pick her up. She seems to take what we say to her and apply it to the correct situation. We are trying to help her understand the difference between I, you, and me.

Until next time...

A little help from our friends...

Weekly Update:

Well, it has been a less hectic week. We started vigabatrin on Saturday morning. Alli seems to be responding well. We are gradually increasing her dose over the course of 10 days to get to 500 mg per day. She is currently at 250. At the same time we are weaning her off of prednisolone. She was getting 40 mg per day. Now she is getting 24 mg per day. I am still seeing her have intermittent jerks, but they seem to be less severe. Her eye issues also seem to be improving. So, we are hopeful that the vigabatrin is going to do the trick.

In the meantime, my mom arrived last Wednesday and has been here helping us out around the house. She has cooked some delicious meals, washes the clothes before they have time to hit the bottom of the hampers, and has been working with Alli on spoon feeding. She has also been busy with Samantha working on letter sounds, phrases, and short sentences. Her retirement certainly didn't last long.

Alli had physical therapy yesterday. They are seeing improvement in her head control and her sitting. Today we added a new specialist to our regimen. We saw Dr. Berland at the Thomas Eye Group. He will monitor Alli's vision during her vigabatrin treatment. His exam showed that her optic nerve and retina appear normal. They have referred her to the Center for the Visually Impaired for therapy as they think she has cortical vision impairment. New foods this week include peas and broccoli. The peas went over pretty well. She's not so sure about the broccoli.

Samantha is getting funnier by the second. She enjoys greeting people by saying "Hey baby and Hi Sweetie." She let's you know that she is ok if she falls down by asking herself "Are you ok?" She constantly reassures us that "It's fine." She also admires herself in the mirror after we put in her hair bow and announces that she's "so cute!" She is really something. She has been wearing big girl underpants for a little over a week now. We have an occasional accident, but she's really doing an amazing job of getting herself to the bathroom...sometimes just in the nick of time. School is going well. We have started to send her 5 mornings a week to see how she enjoys it. So far she seems happy and well adjusted. We are hopeful that she will continue there next year and work her way in to the primary room. We'll see what they say at conferences tomorrow.

Special Events:
Over the course of the past year there have been several events that I feel like I need to write down so I don't forget them. We have asked many people to pray for Alli and our family and those prayers have brought us strength and many miracles over the past few months. In turn, we have also offered up many of our own intentions. As many or most of you know I grew up in a devout Catholic household. We went to Mass on Sundays, prayed before dinner and bedtime, celebrated sacraments, said the rosary, sang Happy Birthday to Jesus before opening Christmas presents on Christmas morning, attended Catholic school, etc. etc. One of the things that is unique to the Catholic Church is the notion of the Communion of Saints. Perhaps one of the most well known and universally accepted members of this esteemed group is St. Anthony, the patron saint of lost causes. We pray to him when we've lost something - "Dear St. Anthony, please look around. Something is lost and cannot be found." St. Anthony and I have a long standing relationship. He's helped me find everything from my David Yurman bracelet lodged under the back corner of our washing machine to my car keys on mornings when I'm running late. I often refer to him as the Captain of my army of saints.

How is this relevant to my angels? Well, over the course of the past year, we have recruited some new saints to our army. The first saint we added was St. Raphael. Among the many things St. Raphael is known for, he is often associated with healing. He is officially the patron saint of medical workers. So, during my pregnancy I blessed my abdomen regularly with St. Raphael's oil and once Alli was born I blessed her regularly with the oil. I have also blessed Samantha from time to time with the oil. Though Alli clearly wasn't cured of her afflictions - she hasn't contracted a single illness which would further complicate her medically fragile condition. I like to think that was our compromise with St. Raphael. I attribute this to him because we have had several situations where both girls have been unknowingly exposed to highly contagious illnesses - everything from colds to strep throat, to hand, foot, and mouth disease. Further, Samantha has been in school since August and hasn't brought home more than a runny nose and cough - which has not passed to Alli.

The next saint we recruited was St. Joseph. St. Joseph is the patron saint of families. He is the saint you go to when you've lost your job. More recently he has been sought after by people trying to sell their homes. I introduced myself to St. Joseph when we received notice from our tenant that she decided to take a position in Florida and would need to terminate her lease. After weeks of looking for a tenant to sublet, I took myself over to our local Catholic bookstore and picked up a couple of St. Joseph's kits. I brought them home and keep one in our desk drawer with a handful of prayer intentions enclosed and took out the St. Joseph from the other kit and put him on the shelf in our living room. I asked him to please send us a tenant or someone to offer a fair price for our condo. The next day our tenant called to ask us if we would be ok with her younger brother assuming her lease. He is a recent graduate and would be starting a job with Delta. He really likes our condo and would like to move in. Since then he has found a roommate and we are hopeful that they will stay awhile. St. Joseph is currently working on a number of requests from me.

Finally, as you may know by now, I left my job with Deloitte in November. Though this may seem counterintuitive, even this was an answer to prayer. The firm went through a round of lay-offs in the fall. They offered me an opportunity to move back in to federal tax, however given Alli's pending surgery and uncertain medical condition, I decided to accept their severance offer. I communicated that to the firm on Friday and Alli was first admitted to the hospital that Sunday. So, I have no doubt that was the right decision. I am hopeful that I may be able to go back to work at some point, but am finding my current work both challenging and fulfilling. So, we'll see what is in store down the road.

So, when people ask how we do it...we're not doing it alone. We have help from co-workers, family, and friends and we have our growing army of saints. Your prayers are strengthening us and helping us to meet the challenges set before us. Please know that as you pray for us, we are praying for you.

Catching Up

One year ago I had to call Jason while he was out of town at a client and tell him that our ultrasound indicated that our baby likely had down syndrome and she appeared to have a hole in her heart.  "Not to worry," I told him, "the hole can be repaired.  Sometimes it even repairs on its own."  That night I got on the computer and cried as I looked at the beautiful images of children with Down Syndrome on various websites.  I feared how this would change things...for Jason and me...and especially for Samantha.  We were so excited to have children so close in age that would be best friends.  Would Samantha want to be best friends with a younger brother or sister with Down Syndrome?  Would we be able to take normal family vacations?  These were the things I was worried about.

As the ultrasound pictures became clearer we analyzed Alli's heart from infinite angles, finally settling on not just "a hole in her heart," but a large hole in her heart and several abnormalities on the continuum of tetralogy of fallot.  "Not to worry" we were told.  "Her heart defects can be repaired."  Children with repaired tets go on to play sports, become olympic athletes (Shaun White has tetralogy of fallot), and live a "normal" life.  And so we prepared ourselves to welcome another little girl in to our world.  We would fix her heart and love her and do everything we possibly could for her.

When Alli was born I remember staring at her in the delivery room (for the 30 seconds they let me look at her) desperately trying to tell whether or not she had Down Syndrome.  I was taken aback at how much she looked like Samantha.  We talked about how she came out kicking and screaming and rejoiced that she was "pink" as it had been predicted, but no one said anything about whether or not she had Down Syndrome.  As my doctor was sewing me up, I finally worked up the courage to ask him directly.  He told me that it appeared that she did.  She had low tone, an extra space between her toes, low set ears,  all visible markers of Down Syndrome.  I remember him wanting to hurry up and finish sewing me up so I could get out of the operating room and see her for myself.  I cried in the recovery room.  I cried until they took me to the nicu and I held her for the first time and then my tears stopped.  We put each other at ease from that moment on.  

Over the course of the next few months we marveled at how well she was gaining weight and how her many heart defects were balancing each other out.  We dutifully took her to the cardiologist every two weeks to check her sats, her weight, her blood pressure, and get an occasional echocardiogram.  Everything was on track for her to have surgery around the 1st of the year.  We started working through the Babies Can't Wait program (Georgia's early (or not so early, as the case may be) intervention program.  At her initial assessment we were told that Alli didn't qualify for services (she was in the 53%), but that they would follow her with a special instructor.  I can't even begin to describe how ludicrous it is to prescribe a special instructor for a child with Down Syndrome, especially since she wouldn't receive another evaluation for 6 months.  I liked our special instructor and we worked with her weekly, however, she admittedly had no experience with infants or Down Syndrome.  That is also ridiculous.

Life started to change right around when Alli turned 4 months old.  I began to notice her having these weird jerking movements.  They initially looked like muscle spasms, but then they began happening with greater frequency and in series.  I remembered an email Jason had forwarded to me from his DADS group regarding a child that had been diagnosed with infantile spasms.  I googled it, videotaped it, and took Alli to the emergency room at Scottish Rite.  This was the beginning of an unbelievable chain of events.

They admitted us that Sunday evening and scheduled an EEG for Monday.  Children who have infantile spasms have a specific pattern in their EEG known as hypsarrhythmia.  You either have it or you don't.  As it turned out, Alli had it, and we were able to begin treatment.  The common treatments for infantile spasms include high dose prednisolone, ACTH, and vigabatrin.  Given Alli's heart condition, the decision was made to try prednisolone as the first course of treatment.  In the meantime, the hospital called for a cardiology consultation, as they had noticed Alli's oxygen saturations dipping in to the 60's.  The on-call cardiologist, Dr. Samai, had an ECHO done and immediately had us transferred from Scottish Rite to Egleston by ambulance (thankfully, no lights and sirens).  Given Alli's desaturations he felt that her surgical repair was imminent and wanted her to be monitored at Egleston until her surgeon, Dr. Kanter, returned from vacation the following week.

We arrived at Egleston and were greeted by our nurse, Gillian.  She would become Alli's favorite nurse over the course of the week and took excellent care of Jason and me, as well.  Her soothing British accent seemed to put Alli right at ease and she had a remarkable way of working with Jason and I to help alleviate her oxygen desaturations without resorting to morphine or other measures.  She gave us our space, but I sensed was always keeping a watchful eye on the situation, knowing when intervention was truly necessary.  By the time Dr. Kanter returned, Alli's desaturations were going in to the 40s and 50s.  What was remarkable was that her desaturations, "tet spells," were often without the inconsolable crying we had been told to look for.

Alli's surgical repair was a success and according to Dr. Kanter "didn't happen a second too soon."  He noted that she had an absent thymus - something they would have removed during surgery - and sent off some samples to ensure there were no other genetic abnormalities (specifically looking for DiGeorge Syndrome - common in patients with tetralogy of fallot and absent thymus).  Her test results came back showing Down Syndrome as her only genetic abnormality (huge sigh of relief for Megan!).

Alli was discharged 8 days after surgery.  We worked over the course of the next weeks to figure out how to give her medicines, work with feeding issues, and follow up with various doctors.  We had our post op visit with Dr. Kanter.  Her scars were healing well, we reduced her lasix to 2x per day, and he noted that she had lost weight since being discharged from the hospital.  He asked me to pump and bottle feed her over the next week until our follow up appointment with the cardiologist so we could track her inputs.  At that next appointment, and all future doctor appointments over the following weeks, Alli remained 5.6 kilos.

Push came to shove with Alli's weight gain January 16.  We worked over the weekend to track her feeding, based on directions from her pediatrician.  I sent Jason back to Jacksonville Monday morning, the same location he was one year ago when I learned Alli had heart defects and likely had Down Syndrome.  I took Alli to the pediatrician to be weighed.  Again, 5.6 kilos.  W were about to leave the office with a GI referral when I asked the pediatrician to listen to Alli's heart.  She seemed to be breathing hard and fast and wanted to make sure everything was ok.  He listened to her breathing and recommended that I take her to the emergency room.  He would call ahead and let them know we were on the way.  Her respiratory rate was 2x her baseline.  I had to call Jason again with bad news and tell him that we were heading to the hospital.

Alli was admitted to Egleston that afternoon as failure to thrive.  Her chest xray on admission showed fluid on her right lung and her ECHO showed moderate leakage out of her mitral and tricuspid valves.  She only had mild leakage following her surgery.  They put her on lasix and lisinopril to remove the fluid and help to control her blood pressure.  They also talked to us about potentially dropping an ng tube  if she didn't start to gain weight over the next day or so.  Since she was going to be in the hospital we decided to have a few other issues checked out.

Alli was not able to gain weight and they dropped an ng tube on Wednesday.  I was heartbroken.  My little champion eater had run out of gas and just wasn't able to consume the calories she needed each day to gain weight.  Plus, I was scared to death of having to drop the tube.  So, in true Megan fashion, I rejected the tube and ignored the baby dummy they left in Alli's room for me to practice inserting the tube.  Alli had a swallow study done which showed that she aspirated on thin liquids.  Excellent, we would put her on thickened feeds, get her to eat, and pull the tube out.  Not exactly.  We were able to get Alli to take more by mouth with the thickened feeds, but not enough for her to meet her total calories for the day.  We would have to use the tube for a bolus.

We also had Alli's eyes checked by a neurologist and opthomologist.  Both recommended an EEG due to saccatic eye movements.  Her EEG showed that the hypsarrhythmia was gone (huge celebration for Megan!) but she had some occipital spikes.  They wanted an MRI to look at her brain and orbits to see if there is something structural causing both the occipital spikes and the eye movements.  The cardiologists wanted to tack on an MRI of her chest to be able to determine the extent of the stenosis in her branch pulmonary arteries.  I took her down for the MRI on Thursday morning..  The sedation team refused to sedate her for the MRI given the fluid on her lung and her pulmonary hypertension.  We were sent back upstairs to her room.

The next day Alli had a lung perfusion test.  The test uses a radioactive isotope to determine the distribution of blood to the lungs.  The results of the lung perfusion showed that she has a 70/30 distribution of blood to her lungs.  This means that 70% is going to the right lung and 30% is going to the left lung.  The doctors explained that there normally is some variation due to the fact that the right lung is larger than the left lung.

We stayed through the weekend in hopes of being able to have the MRI done on Tuesday morning under cardiac anesthesia.  In the process of anesthetizing Alli Tuesday morning she became hypotensive and had to be taken to the ICU.  Therefore we weren't able to get the MRI.

We were sent home the next day with our feeding pump and a schedule of follow up visits including a new date for the MRI.

All went well our first day at home.  Alli slept off her hospital stay.  The next day we noticed that she started to projectile vomit with her feeds.  We monitored her throughout the weekend and adjusted the rate at which we were feeding her through the feeding tube to try to control the vomiting.  That Tuesday, as I was getting her ready for bed, I noticed that she started to have jerks again.  I mentioned it to Jason and we agreed to monitor the situation and call the doctor if we saw it again.  The next night we both witnessed a series of jerks again at bedtime.  I called the neurologist Thursday morning to report about both the jerks and the vomiting.  On Friday the neurologist called back and suggested that we take her back in to the emergency room for an EEG.  They admitted us back at Egleston that night and Alli had her EEG at midnight.  The neurologist was reading her EEG as it was being administered and saw that the hypsarrhythmia had returned.  They started her on prednisolone and topamax and kept her through the weekend for observation.  She initially seemed to respond very favorably to both medications.  We right away saw her spasms diminish from happening in a series to happening one at a time.  We were sent home that Monday hopeful that we had again caught the seizures early enough and would be able to avoid the more aggressive forms of treatment for infantile spasms.

On Wednesday, after being discharged, we noticed Alli's jerks come back more frequently and a recurrence of the projectile vomiting.  After multiple rounds of phone calls between the neurologist and the cardiologist (it took our cardiologist getting involved to get the neurologist to call us back) we were advised to increase Alli's dose of prednisolone to 40mg per day.  We saw an initial improvement in her seizure activity with the increased dose and the projectile vomiting seemed to be put at bay.  We also followed up with a GI specialist to help us monitor Alli from a nutrition standpoint and assist us with the ng tube.  Our visit with the GI specialist was especially productive.  We developed a plan to address Alli's feeding issues and he was able to get us in with a prominent neurologist.

We have also been addressing Alli's therapy needs.  She has had evaluations by physical therapy, occupational therapy, and speech therapy.  Her most recent physical therapy assessment put her in the 9th percentile.  She was not able to score at all on the occupational therapy assessment as they were not able to determine what she is processing visually.  She passed her speech (feeding) assessment with flying colors.  They suggested a new type of bottle and let us move forward with starting solid foods.  Since then Alli has enjoyed sweet potatoes, plain yogurt, mango, and avocado.  This weekend we are going to try some squash and maybe some egg yolk...yum!!  With all of her new food and formula (I had to stop breastfeeding once we went to the ng tube) Alli now weighs 14 lbs (6.35 kilos)!

So, here we are.  It is Friday, February 24 and it has taken me 10 days to write this entry.  As of today, Alli is still having infantile spasms and her most recent EEG still shows hypsarrhythmia.  Tomorrow we will start to wean her off of the prednisolone and will start her on Vigabatrin.  Vigabatrin is another drug used to treat infantile spasms.  It's main side effect is that it can cause retinal toxicity and irreversible constriction of her visual field (tunnel vision).  She will be monitored by an opthamologist throughout her treatment and if they begin to notice visual impairment, then we will have to stop this course of treatment.

Her most recent echocardiagram on Tuesday shows mild-moderate regurgitation out of her mitral and tricuspid valves and continues to show stenosis in her branch pulmonary arteries.  As her cardiologist said, her arteries are definitely narrow, but they are sufficient for now.  We are hopeful that they will grow.

My goal is to use this blog to help update everyone on Alli's status.  The entries will not be this long in the future, but I figured I would put everything out there for those that are interested and those that aren't can skip ahead to the shorter entries.