Introduce Yourself Here Please

[shakem25]

Hi,
My name is Scott. My son was diagnosed at 4 mos old with the zz strain of Alpha 1. He is now 6 1/2, but one of his latest blood rest results came back with a less than favorable outcome.
His protien levels are lower tahn they have been in the past. We go to Shands in Gainesville once per year for a check up.

[pgab]

My husband and I live in the Metro Detroit area and have 4 children. I am a nurse and work in the area of Pediatrics, NICU, and Maternal-Child. When our 3rd child was born in 1999, he was of low birth weight despite being postdates, and just didn't look healthy. At 5 weeks of age, multiple symptoms came together (light colored stools, poor weight gain, lethargy, and jaundice). We experienced a few weeks of testing (HIDA scan, ultrasounds, bloodwork, xrays) to find out by 7 weeks that our newborn boy had Alpha-1 Antitrypsin Deficiency, ZZ phenotype. Despite my medical background, I had never heard of the disease. After some searching, we found a Pediatric Gastroenterologist that is knowledgable and experienced with the Deficiency and has been managing our son ever since. In 2001 we had our fourth child and took this opportunity to test the entire family. My husband and I are MZ (carriers), our now 15 year old daughter is ZZ, our 12 year old son is MZ, our 9 year old son is ZZ and our youngest son who is 7 years old is ZZ. We are fortunate that they are all thriving. Our oldest and youngest never have shown any symptoms and their yearly Abdomenal Ultrasounds and bloodwork is always within normal limits. Our son that was more symptomatic at birth has very slightly elevated liver enzymes, but is active and healthy. By 4 months of age his jaundice resolved and he began to gain weight appropriately. We no longer live in the fear of "what if" mostly because we feel well informed. Our kids understand their health concerns and have established healthy living patterns. We also understand that things could change at any time and accept that. Our first few months of dealing with the Alpha-1 diagnosis are thanks to the mentoring program through the Alpha-1 Association. We cannot say enough about the support and information this organization provided us.

[kilee]

Hey my name is Kilee and I my son in 6 weeks old. His first week of life his jaundice levels were extremely high and he had to be put on lights. Ok, So I'm doing ok with that. Well after about 6x getting blood work done the dr finally notice what was going on. I am now waiting the news to see if he's a carrier or has the actual deficiency.

[marshandmist]

Hi I'm Misti and my daughter Saddie (5 years) has been diagnosed with Alpha-1, she is a SZ, but she has also been diagnosed with Wilson's Disease. She got both Rota Virus and Influenza and so they had to put her in the hospital, they did her blood work and even after she was better her liver enzymes were so high that they sent her to Primary Childrens for more tests. After lots of blood work and a liver biopsy they diagnosed her. We just had our son Easton (3 years) tested and he is a MZ. We also feel sick about it, but I am so grateful to have found this forum, it helps to know other people with the same stories. Alpha-1 just seems too unknown, I don't even know how to explain it to people. Her doctors are going to test her every three months to check her levels and see how she is doing, what don't we want to hear from these tests? Her liver levels are still high and it has been months since the virus', is this normal with Alpha patients? Our son's levels were fine, is he at much risk? Is she? Thanks.

[john37]

Hello my name is john i have contacted your forum for information .My nephew has been diagnosed with phenotype zz which i think is alpha-1 antitrypsin deficiency we have little information about this i have tried checking over the internet for information but any i find it's all a bit much to understand so i am trying your forum for people with similar situations.My nephew is five years of age he tends to be unwell more than normal for a five year old and he has a slightly swollen tummy apart from this he is a big strong boy .

[teri1t]

Hi.
My name is Teresa and I have 3 kids who have this and 1 who is a carrier. I found out about it when my youngest was about 5 weeks old. She is now 13. Life for us (thanks to God) is pretty normal. The biggest thing is that when my kids get a cold it seems to last forever....The youngest two also have asthma, my older girls (1 has it, 1 is a carried) both smoke and it drives me crazy. Right now my youngest one, She is the one with the most symptoms, has H1N1 and pneumonia, also found out that she has been exposed to Influenza B. So yeah we (ok mostly me) are stressed. If anyone knows anything about any of these complications wanna let me know? I would be grateful... God Bless

[alikirsch]

My name is Allison and my daughter Ella (16 months) was diagnosed a couple of months ago (ZZ). She seems relatively healthy, no jaundice or anything when she was born, although her liver enzymes have been consistently elevated. Her doctor just put her on Actagall and I would like to talk to parents about the drug since it hasn't been tested on kids. Her rash and itchy skin went away after 1 day on the drug, but her eyes seems funny - a little swollen, or looks like she has bags under her eyes. The list of side effects is a little scary and I want to know what others think?

I haven't had my older daughter tested yet - am trying to decide what to do, as she has never had any problems. Also, do most parents get tested as well?

[markcasias]

hi to all of you here... my name is mark i just want to share, i have a 20 months old nephew who was diagnosed with ZZ a few months ago. thanks god his okay right now....

_______________________
http://www.kinder-digitalkamera.com

[fatherwith2]

Hi I live in missouri and im a father of 2 boys. Both ZZ and they both have the liver disease. We currently go to a specialist at Childrens Mercy in Kanas City. The oldest is 4 and the youngest is 2. My oldest has had a biopsy and the youngest is scheduled to go have one done. They had the liver disease up on birth and it is progressively getting worse in both childeren. The first of the year my oldest cought pneumonia and gave us a scare. His liver count climbed very high and we wasn't sure what would happen. It's very aggervating when they get sick because we dont know what could happen. The doctors have told us are children will need a transplant eventually. Most likely before they are 10. My wife and I would like to meet other parents in the sedalia missouri area.

[julietamber]

Hi
My name is Julie and I live in the UK. I have a daughter, Katie, who is ZZ, a son who is MZ and another son who is unaffected. Katie is now 7 years old but was diagnosed when she was a few weeks old. She had high bilarubin levels, was losing weight and bad jaundice. She was very poorly and it was a worrying time.
Since, then, she has had 6 monthly and then yearly blood tests and appointments and she has been perfectly healthy - much healthier than the boys even! Her last blood test results, however, showed abnormal liver levels once again and she has to have them repeated in 6 months. I am worried sick that something isn't right.
I don't know anyone else in my area who is faced with this illness so I'm glad I found your forum.
Julie x

[jenchar]

Hi Julie,

Welcome to the forum. I"m glad to meet another Alpha-1 mom here. My oldest, Gracie, is almost 8, and her sister, Meghan, is almost 6. Both are ZZs.

I'm sorry that Katie's tests revealed some elevations in her values. Both of my daughters routinely have mildly elevated levels in their liver function tests. Their Alpha-1 doctor has indicated he is not worried as this is what happens in some children with Alpha-1. We watch them carefully though. I understand your concern, and it is justified.

Was Katie's doctor very concerned? With a repeat series of bloods in 6 months, perhaps it is just "blip" and may return to normal. I'll keep Katie in my thoughts.

Also, how has Katie been? Had she been sick with a virus before her bloods were drawn? I've learned from our doctor that a virus can cause temporary elevations in the liver function tests as the liver is fighting off the virus.

Finally, sometimes a growth spurt can set off some elevations in liver function tests. Has she been growing? I know my Gracie has been coming to me telling me that she has growing pains.

In any case, thanks for joining us here. It is quiet on this forum, but people do come along from time to time.

Do you know about that Alpha-1 UK Support Group? Here is the web site: http://www.alpha1.org.uk

Also, they have a group established on Facebook if you are member there: http://www.facebook.com/home.php?#!/gro ... 3868211418

I hope this inofrmation helps.

Jen

[julietamber]

Hi Jen
Thank you for the reply. Yes, Katie has had an ongoing cold and cough for awhile so hopefully the elevated readings are down to that. I'm thinking that as he doesn't want repeats for 6 months, he can't be that concerned! It was just a shock as for the last 2 years, her readings have been within normal range.
I'll check out the group on facebook.
Take care and love to you and your family.
Julie x

[DadandMom]

Hello to all.
My wife and I have a 5 year old daughter who is Alpha-1 Antitrypsin deficient - confirmed PiZZ (both of us are confirmed PiZM). She has shown no symptoms other than what her blood work shows and a poor appetite. Her blood work comes back with slightly elevated liver enzymes but otherwise fine. We discovered her condition when she suddenly dropped off eating - right after she stopped breast feeding at about 1 year of age . Pediatrician prescribed Prevacid for GERD, she still takes it on recommendation of new pediatrician. We went to a GI, he did some basic tests and finally a liver biopsy. Don't ever let a GI tell you there is no benefit to breast feeding, especially that there is no AAT in breast milk - breast feeding probably saved out little girls life! Our biggest issue with her for the past 4 years is her lack of appetite - she just flat out refuses to eat. At 5 years old, she is 46 inches tall and barely 38 pounds. Other than that she is a happy, healthy, curious and well developed little girl, right on track developmentally (maybe even ahead) and seems fine. It is absolute torture for us to watch her sit a the table for an hour and eat 5 bites - knowing that she is getting almost no calories, nutrition, etc. Yes, we give her vitamins and calcium supplements. She drinks milk, with carnation Instant breakfast drink to boost calories and nutrition but we backed off to no CIB late in the day (only her first 8 ounces of milk) because it is so rich - it was killing what little evening appetite she has. Has anyone else noted a severe lack of appetite in their child? What do you do to help them eat or boost calories and nutrition?

[MeganC]

Hi DadandMom,
Our daughter will be 3 in June and was not on the growing charts until after she was 2 years old. She is ZZ. I remember for the first year and half watching her eat and having a sick feeling in my stomach. We tried everything, melted butter in her baby food, ranch on anything and everything. Slowly she did start eating better once she started going to daycare 3 days a week. I think it helped her to see other kids her age eating. We still give her a big sippy cup full of whole milk with a packet of Carnation Instant Breakfast when she goes to bed. I know it's not the best for her teeth, but it seems to help. Sometimes she drinks two whole cups before she falls asleep. We also feed her lots of whole milk cottage cheese, yogurt, let her use ranch whenever she wants it with french fries, veggies, chicken nuggets, etc. Ice cream is a big calorie booster. Mashed potatoes with cream cheese and stick butter. If she isn't eating good at a meal, we say "I'm gonna win" and she usually wants to beat us so she takes more bites. That probably won't work with a 5 year old

Are there any foods she really really likes? If so, I would try to put as much calories into it as you can.

It's so hard and it makes you want to tell people who have good eaters to not take it for granted. It is absolute torture when they refuse to eat.

[DadandMom]

Megan - Thanks for the info, but we’ve been down that road to no avail. Our daughter eats almost nothing, she just flat out refuses. She attends Pre-K, but eats no snack at snack time - she feeds other kids, she doesn't copy their eating. We’ve been to feeding therapy - they can't find anything. We’ve had tests for her stomach, no problems. We’ve been to behavioral therapists, we’ve been to psychiatrists – nobody has been of any help – our daughter presents differently and they seem to be put off by this challenge. She has a limited array of food she is willing to eat, and flat plain refuses to eat anything not in that group, Dinner takes upwards of an hour and a half and is always frustrating for everyone. Lunch is a waste of time and breakfast is nonexistent. She is otherwise a happy, intelligent, loving child that just will not eat enough to keep her weight (BMI) up where she will be safe health wise. We are at our wits end and just keep plodding along. Yes, Watching your kids refuse to eat is absolute torture. It puts huge amounts of stress on the entire family.