Thursday, December 29, 2011

GI diagnosis'

From the minute Lily was born she has had trouble with feeding. Her GI issues are vast and complicated to say the least. I will start with her first actual diagnosis.

GERD: Gastero Esophogeal Reflux Disease aka Reflux. Lily was diagnosed with "an extremely severe case of Gerd at 3 months old. Basically everything that went into her stomach came right back up. I mean basically EVERYTHING! She was 6 lbs 8 oz at birth and by 4 months old she weighed barely 8 lbs. She had only grown 1 inch longer as well. I could see every bone in her frail little body. She was Diagnosed as Failure To Thrive (FTT). By the time they gave her her first feeding tube she couldn't lift her head, all facial expressions had gone away. She was almost lifeless.The doctors were worried about brain damage from malnutrition. She was starving to death and no matter how much i fed her it made no difference. She got her Ng tube when she was 4 months old. The feeding tube saved her life. I will go more into feeding tubes in a later post.

 Sandifer syndrome: In super rare cases of super severe GERD Sandifer Syndrome can occur. When she was 6 months old she was admitted to PCH for apneas(not breathing) and "seizure like activity". About 10 times a day Lily's right arm would start flailing uncontrollably, her tongue would start thrusting, her head would roll back, her back would arch over and over and her eyes would roll back in her head. And she would scream. After 2 brain MRI's, and 2 EEG's, a Cat scan, and an ultrasound of her brain through her fontanel. They ruled out seizures. So I started researching and found a YouTube video of a little boy with "confirmed sandifer syndrome" It was so similar to Lily. We went to a doctor who referred us to another doctor who referred us to another doctor who confirmed Sandifer Syndrome. Apparently when reflux is severe enough it affects the nerves that also control movement and causes spasms. It is controlled only when the reflux is controlled. So we just give her a cocktail of anti-reflux meds and it seems to work. So if I forget to give her her medicine Its OBVIOUS because she has "sandifer fits". Luckily this diagnosis doesn't cause any physical harm its just a bit embarrassing for her as she gets older.

Silent aspiration: This one is simple to explain but it scares me. Basically anything Lily swallows that is thinner than the thickness of Honey goes into her lungs. Water or food in lungs = BAD!  She can't drink water. Her formula must be thickened to a "Honey Thick consistency" with rice cereal. And she has to drink it all from a gerber med flow bottle nipple. I tried to drink honey-thick liquid through a med flow nipple and ITS HARD!. My cheeks were sore. Its no wonder she gets exhausted after just 4 oz. 

Dysphagia: Dysphagia is a weak or non existent swallow. Lily's is weak. When she was born it was non existent. It is treated with a feeding tube. A short documentary on You Tube explains it so much better than I can. Here's the link:
(copy and paste it into your browser)

Eosinophilic Gastroenteritis: An Eosinophil is a white blood cell. In EoE patients(that's the abbreviation for Eosinophilic disorders) eosinophils gather in large quantities in either the esophagus, stomach, or bowels. In Lily its the stomach and bowels. It causes inflammation and damage to the stomach and bowels. It causes severe pain, vomiting, and diarrhea. In severe cases it is treated with a feeding tube. EoE patients are on very restrictive diets. In Lily's case just Beech Nut rice cereal, And Neocate, with an occasional and very conditional bit of thickened sweet potato baby food. There is no known cure.

Laryngomalacia: basically the vocal chords are too soft an floppy. They also don't always move. There are times when they are barely moving and that is why she has stopped breathing so many times.If your vocal chords freeze up then air cannot get to the lungs. She was on an apnea monitor until she was 10 months old. She used to stop breathing and actually change color up to ten times a day. She had recently gone 4 months without an apnea until last week. :(   It also affects her speech. Some times she can say Mama and other times she can only mouth the words and no sound comes. We don't know how long this will affect her. It is quite possible she will go through life being able to speak some days and not on others. Only time will tell. There is a surgery that can fix it but its incredibly invasive and dangerous and she would have to have a trach for a while. We would really like to avoid that...

Allergies:Lily has many many allergies. Allergies go hand in hand with EoE and also because she is missing The IgM immunoglobulin. IgM is what deals with allergies and allergic reactions. We know she is allergic to many many foods, we just dont know how many or which ones yet because she is on such a limited diet and it is not safe for her to try foods because of her swallowing issues.  We do know she is allergic to milk and soy. She is allergic to most adhesives especially bandaids, and most medical tapes. We know she is NOT allergic to Beech Nut rice cereal and Sweet potatoes.  She has a bad reaction to any other brand of rice cereal like Gerber for example. Only time will tell what she can have and which allergies (if any) she will grow out of.

I think that about sums up her GI diagnosis'. Sorry this post was pretty bland. I wanted to get the technical descriptions outta the way. She has a few more non-GI diagnosis I will go into on another day.

Tuesday, December 27, 2011

Immune deficient

I want to do a post for each of Lily's main diagnosis'. I am gonna start with her immune deficiency simply because we have IvIg in the morning and this diagnosis has so far been the cause of most of her hospitalizations.
Lily has been diagnosed with hypogammaglobulinemia. That is fancy doctor speak for she is missing part of her immune system. Our Immune system is found in our blood and is made up of 5 different immunoglobulins: IgG, IgA, IgM, IgE, and IgD. All are important but the MOST important are IgG, IgM, and IgA. Lily is missing most of her IgG and all of her IgM.This makes it very hard for her to fight off sickness and infections and basically guarantees she will catch whatever she is exposed to. Yes I have thought of putting her in a bubble and No I am not going to. Though I bet she would have a grand 'ol time of it crawling around in a GIANT ball, it just isn't gonna happen.

OK, back to the sciency stuff, Her doctor says it is possible that it is Transit  hypogammaglobulinemia of Infancy or THI which would mean she would grow out of it by age 6. I would LOVE for this to be the case but THI always just involves IgG and NEVER IgM (I do my research). So how could that be the case with Lily? she is missing her IgM! I think the Doc is just trying to be optimistic. But I can still hope.

The treatment for this is IvIg therapy which is basically a blood transfusion of just the IgG part of the blood. Now that Lily has her IV port its not quite as big of a deal. She gets IvIg every 3 weeks.

A typical IVIG day:
We get up early and drive to PCH (Phoenix Children's Hospital). We go to the oncology/hematology building and wait. (For some reason blood disorder patients and cancer patients are always treated together). They send us back to a room and we wait. After a while Three nurses will come in and two will hold Lily down (shes stronger than she looks) and a third will attach the iv to her port. We have a lovely cream I put on her port site an hour ahead of time to numb it so she doesn't feel a thing. She still screams though because she is being held down by nurses with masks and in yellow sanitary robes.

Now we get to go to the treatment area and pick our seats and get comfy. and wait :) The treatment area is a long room with a bunch of reclining chairs. It is filled with children receiving IvIg, chemo, and hemophilia treatments. There's a Ton of toys and therapy animals frequent the room. Its very bright and colorful and full of happy chatter with the nurses and children laughing and playing, but every kid there is very sick. About half of them have cancer. My heart breaks everytime we go. Some of these kids will die. I recognise the pain, exhaustion, and fear in the other parents eyes. Its the same thing I see when I look in the mirror. Knowing the treatment will make her sick, knowing she will scream and hurt and be sick for the next 36 hours, knowing its absolutly nessecary for her. It helps keep her alive. I have found myself completely avoiding eye contact with the other parents. Their pain and fear makes my own pain and fears closer to the surface, harder to hide and ignore. Now I know Lily doesn't have cancer. I am not comparing what I go through with what a cancer parent goes through. The only similarity is we are treated in the same rooms and floors of the hospital. And our childrens medicine makes them sick, and its NOT a sure thing. All of these parents have to wonder if it will work or not. If it will be enough. And what will happen if its not enough.

Ok enough with the heavy, IvIg takes about 3-4 hours, its a slow paced infusion and they must continually monitor her vitals. When we are done a nurse comes and removes the iv from her port and we can go home.

Over the next 36 hours Lily gets sick. she cries most of the time, vomits a lot and has lots of loose stool. I hate that it has to make her sick to keep her well. I also HATE that she doesn't understand. I wish I could find a way to make it all better.

After 36 hours or so, her smile comes back and she gets a bit more energy. She is happier for a couple weeks. The color comes back to her cheeks and the dark circles under her eyes nearly disappear. And HOPEFULLY we stay OUT of the hospital! And then in three weerks we repeat.

Sunday, December 25, 2011


This is my maiden voyage on blogging. previously I have been posting short and mostly vague posts on my facebook page about whats going on with Lily. This is my attempt to chronicle our "adventures" and to give my bloated FB page a well needed rest from all things of the medical nature. I have been longing to do this since she was born but until today (Merry Christmas to us) we didn't have a computer. I hope this will be a place to keep those who WANT to know about Lily's condition, in the know, and also a healthy way for me to keep track of our triumphs and trials along the way. We shall see. Wish me luck. :)