Chronicles of our 1p36 Deletion Angel - Sharing the life of our sweet baby sent to us directly from Heaven.
Tuesday, May 6, 2008
Lily's 1st birthday is coming up soon on May 14. As her birthday approaches, I have been reflecting a lot on what we have been through this past year. So we decided to post the long version of "Our Story" prior to receiving Lily's diagnosis.
We wanted to give the background as to what the last 11.5 months have been like for our family for a few reasons. It will help everyone understand what we have been through and why we are dealing with our diagnosis the way we are. Also- we want to give as many details as possible - so that we may be able to help someone out there who is searching for answers. Lastly, it was pretty therapeutic to get it all out there.
We were thrilled when we found out we were expecting our 4th child. Our first 3 children were born in 3.5 years. So- we took a bit of a break from baby making after Ava was born - I was at my max! But we started longing for another baby and decided to expand our family again God willing. We had been trying to get pregnant for about 5 months when the blue line finally appeared on the test! I began making all sorts of plans for this baby. I knew I would be running around crazy with the three older ones - so I bought all sorts of slings and wraps to put the baby in. I planned on nursing her for at least a year if not longer. I had all sorts of dreams and plans for how our lives were going to be. So much for plans... When Lily was born she was much smaller than our other 3 children. She had stopped growing between 34-36 weeks. She was born at 39 weeks. My pregnancy with her was pretty rough - I never stopped feeling sick or randomly throwing up. When she was born she had a "smashed foot" - which actually has a name (I don't know what it is). They called it a positional abnormality. Our son Nathan had the same thing - our pediatrician said he had never seen two kids from the same mom have the foot thing. Lily also had a little tiny hole near her tailbone. The doctors said it was hereditary and were not concerned.. Lily got good scores for her APGAR. Just very small - 5lbs 8oz , 17 1/2 inches. She was the size of our girls' baby dolls.
In the hospital I started noticing little things. Lily kept arching her back and rolling . She literally rolled over in the hospital. Also- her pooping was not right. She only had 1 decent meconium diaper and then did not poop again in the hospital. We were on major "poop watch" when we got home. She had the most foul smelling gas. I never remembered a breastfed newborn having any gas. Once she did poop - it never looked like breastfed baby poops. I mentioned all of this to the pediatrician - I believe it was noted but at the time they were not that concerned. What they were concerned about was Lily's weight progress. She was 5lbs 3oz when we left the hospital. She did not gain very quickly at all. The ped had me nursing her every 2 hours around the clock. Lily slept all of the time. She was impossible to wake up - let alone feed for long. The first 3 weeks were amazingly hard. She finally started gaining some weight at about 1 month.
Here is where the story gets even more interesting: The day we brought Lily home from the hospital my son Nathan got sick. He had a fever for 5 days. Finally we took him in - he had strep throat. My girls ended up getting it and then I got it. Then my girls got it again - and then Nathan again and me again. All in all - I had strep 4 times and my three older kids - 3x. All along I am nursing around the clock and continually on different antibiotics. In the middle of the strep craziness we took our summer vacation to Hilton Head. We ended up getting it on the trip - visited 2 emergency rooms and 1 Med Check. You see - you can get strep without the throat part and my girls had gotten a strep rash too. Luckily, Jason never got it - not once. Poor guy was continually taking care of sick people. I ended up being diagnosed as a strep carrier- put on a course of antibiotics for 6 weeks and the strep craze at our house was over.
At the same time all of this was going on - Lily started getting these horrible rashes all over her body. At first it started on her face like a severe case of baby acne. Then she had very very bad cradle cap. It moved to her arms, legs and chest. I thought for sure it had something to do with what I was eating. You see - the doctors all told me that the antibiotics I was taking for the strep was fine for Lily and breastfeeding. I believed them - I was too tired not to.
I took her to a pediatric allergist and had her allergy tested at 2 months old. Everything normal. But when I ate eggs - she projectile vomited - so I stopped eating eggs and she stopped vomiting. She continued to have awful stinky poops, was arching all of the time and rolling to one side, was not sleeping well, wanted to nurse constantly and was not acting like our others did at this age. Something interesting - before Lily got her 2 month shots she was growing well. She had rolls. She laughed and smiled a lot. After her shots - I feel like she slowly declined and her skin got worse.
We started seeing a dermatologist for her skin. She could not figure out what was wrong either. This was not typical eczema. Something else was causing it. She too ordered tests for allergies. Again all normal.
They tested Lily for Cystic Fibrosis with a Sweat Chloride test. Many of her symptoms matched this diagnosis. The test was negative. When you feel that traditional medicine fails- you begin to go elsewhere. We took Lily to a holistic acupressure doctor. She did her own allergy testing in a very non-evasive way. We found that Lily had strong sensitivities to many foods including eggs, milk, soy, cinnamon, fish. She also had issues with dog, cat, elastic and wool. I gave up all of the foods until she could be desensitized by the acupressure. She did gain 1 lb in the month that I did this. We thought we had figured some things out. But she still was not meeting developmental milestones.
By November we knew we had to do something about her developmental delays. Right before Thanksgiving - when Lily was 6 months old I made the call to First Steps - our early intervention program. This was a very hard call for me to make. I felt like I was failing as a mother. Also in November - I was diagnosed with having hypothyroid. My TSH was an 8.0. No wonder I was severely depressed, always tired, extremely irritable, hair falling out in hand fulls and couldn't lose weight to save my life. I just thought that was what came with being a mother of 4 children! :) I felt broken on many different levels.
On December 3 - my birthday - Lily had an appointment with a pediatric GI. I had made this appointment over 3 months earlier - it took that long to get in. The GI doc took one look at Lily that day and her skin and he told me that we really needed to put her on Neocate formula. This is a hypoallergenic formula where the proteins are broken down into amino acids. He felt that she was sick on the inside from food sensitivities, antibiotics, poor nutrition and potentially silent reflux. He called her malnourished and malabsorbed. Basically - failure to thrive. He wanted me to cold turkey quit nursing - and pump if I wanted to. I left that office in a complete frenzy. I was in utter shock and tears started flowing. I am not typically an emotional person - this has definitely changed in the last year. That same day we had to get blood work done for the GI for Lily. Her little veins were so poor that they couldn't do it - 4 sticks later - no blood and a crying mommy. Needless to say - we are going to re-celebrate my birthday on June 3 this year!
So- the baby that I was planning to nurse for over a year had to be weened immediately at 7 months. She started the Neocate formula and took to the bottle and the formula amazingly well. She started gaining weight once we figured out her calorie needs.
We thought we had figured out what was wrong. But things only got worse. At her 7 month appointment they gave her - her 6 month shots. When she was 6 months I felt that she was too sick with her skin problems to get the shots. But at 7 months the ped. felt like she was ready. Two days after the shots - Lily stopped looking at us all together. She stopped smiling. She stopped laughing. She wanted to sleep all of the time. She was absolutely miserable. It was almost immediate. She got sick right after the shots. I took her to the pediatrician right before we left for our New Year's trip to Atlanta, GA to see my parents. He gave me the name of a developmental pediatrician. He did not say "Autism" - I asked the question and he could not answer either way. I think I cried almost the whole way to Atlanta. While we were gone- Lily had a horrible GI thing.And - when it rains - it pours. At the same time Lily was sick - I completely threw out my back. On the floor completely helpless - in more ways than one.
We started therapy in January. Lily was not rolling, not tolerating tummy time, not tracking anything, not making eye contact with people - she was miserable. She had 2 ear infections in January and was on antibiotics for both. Lily slowly but surely was eating less and less as well.
By February - the severe vomiting flu hit our house and everyone got it in the course of 1 week except - you guessed it - Jason. Lily got it and she just was not strong enough to fight it. On Valentines Day we brought her in and they took one look at her and sent us straight to the hospital. She was severely dehydrated. We were in the hospital 8 days that first visit. We had an MRI, Upper and Lower GI scopes, EEG, battery of blood work. Lily had to get an NG tube to get fluids in her because they couldn't get a vein for the IV. The GI's felt she had bad bacteria in her colon and the silent reflux was very painful for her. Now- I believe that God works in very mysterious ways - he knows what he is doing - even though we don't understand it. The weekend we went into the hospital was a big teen retreat called Destination Jesus with over 800 teens in one location. Jason is heavily involved with this weekend. Of course- he couldn't go - but we had so many people praying for Lily over that weekend. We could feel the love and support - and it gave us unbelievable strength while we were there.
During this hospital visit we met with the developmental pediatrician - Dr. Escobar. He surveyed Lily and ran a ton of tests. One of which was a chromosome test. He also talked about a special test that had to be sent away to Washington State - this test would take some time to come back.
When we left the hospital Lily was doing so much better. He skin had cleared up and she was eating! We had to continue to feed her around the clock overnight to get enough in her. She would only take about 4 oz at a time. Lily started doing better in therapy.
We had our follow-up appointment with Dr. Escobar. All of the tests came back normal - even her chromosome test. BUT - there was a problem. The special test that he really wanted to get back from Washington was somehow never sent. All that blood that we worked so hard to get in the hospital was not sent. Jason was livid. For some reason - it did not bother me. I honestly thought it would come back normal. God knew we were not ready yet to receive the diagnosis that awaited us. I know he knew I couldn't have handled it yet.
Then- Lily started teething and she got a cold. She was only eating 1-2oz at time. We spent all day everyday tracking how much she ate and trying to get her to eat. Jason developed an amazing Excel Spreadsheet that even the doctors were jealous of! :) Almost the only time Lily ate was when she was sleeping.
Holy Week 2008- The respiratory flu hit our house - about 1 month after the last flu. Nathan and I got it. I had a fever for 6 days. I couldn't get out of bed for at least 2 of them. I wore a mask at all times and was still having to help feed Lily. Jason was at his wits end. He was trying to do my job taking care of 4 kids and his job and take care of a baby who would not eat. It was probably the most stressful week of our lives. Lily got her feet washed on Holy Thursday - which was fantastic and very emotional for Jason who took her. On Holy Saturday night we had called the GI doctor on call. Lily was throwing up again. We knew we were going to end up back in the hospital - we got her to take some Pedalyte and made it to Easter Sunday. If possible - we really wanted our kids to have their Easter before everything turned upside down again. On Easter Sunday for the first time in my life - I did not get to go to Mass - I was too sick and Lily was not well either. Lily and I stayed home together. At 9pm on Easter Sunday we made the decision to take her back to the hospital. We knew they were going to put a feeding tube in her. It was the only thing left to do.
So- we spent another 6 days in the hospital and made the very hard decision of putting a feeding tube into our baby. Looking back - we had no idea what a difference the feeding tube would make in our life. Had we known - the decision would have been an easy one.
Lily took to the g-tube feedings right away. She kept down all of her food. We were feeding her 28-30oz a day. Nutrition is an amazing thing. Without it - the body goes into survival mode. Everything else suffers.
Three weeks after the g-tube procedure on April 7, 2008 I came home from a fun day at the park with the kids. I walked in the door - went to Jason's office and took one look at him and knew something was seriously wrong. He had gotten the call from the genetic counselor. Our test from Washington had finally come back. They gave us our diagnosis - 1p36 Deletion. Something we had never heard of. We were terrified.
As parents we dream for our kids and for ourselves of what life will be like when the kids get older. The first moments of hearing the diagnosis and learning a bit about it are horrifying. You immediately think about all of the things that your child will not get to do. You think about your own life and how you can possibly raise a child with special needs and three other children at the same time. You have the "in your face" realization that what you are dealing with is a lifelong thing - it isn't going to go away.
What happened though to us is that we had been struggling for 11 months prior to receiving Lily's diagnosis. We had had so much illness in our house. We had been "beaten down" and felt very out of control. We never knew what was coming next. So the news of the diagnosis - although devastating - provided us with a bit of a road map.
Today Lily is doing absolutely fantastic. She is sitting on her own for long periods of time. She is progressing in her therapy very well. Last week the therapists had her on her hands and knees unassisted for at least 30 seconds! Lily is gaining weight beautifully with her feeding tube. She is up to 19 pounds and is in the 25th percentile. There was a time when she was barely at 3%. We feel very blessed and know that all of the hundreds of prayers across the country, across different religions are lifting Lily up and helping her achieve great things. God is good. All the time.
We have learned amazing things about ourselves, our faith and our friends and family. We know that "Our story" has just begun.