My daughter has A.A and Autoimmune Hepatitis. Help needed!

[Jacqui]

Hi everyone

I really appreciate if anyone can help. My 13 yr old daughter was diagnosed with Aplastic Anaemia, Autoimmune Hepatitis and coeliac disease approx 4 yrs ago. She has been receiving medications for the Autoimmune Hepatitis ever since, however she now has CIrrhosis, with portal hypertension and oesophagael varices and splenomegaly

Her bone marrow has always been hypocellular, her counts have been reducing gradually over the yrs. They are now as follows:

hb = 9.5
White cells = 1.4
Neutrophils = between 0.5 to 0.9
Lymphocytes = 0.4
Platelets = 21

We are based in the UK. She is under many specialities regarding her conditions. They believe her immune system has attacked her bone marrow, her liver and her digestive tract, but cannot find any answers as to why.

Her haemotologist has now stated that although she needs to have a bone marrow transplant, they cannot do it, as it can affect the liver and with her liver already damaged then it's definitely no.

Her Hepatologist is holding out in not giving her a liver transplant as it too can have an affect on the bone marrow.

They don't think it's the Hepatitis associated Aplastic Anaemia syndrome as it has presented differently.

Anyways, what I really would like to know is if any of you know any Drs in the US who maybe experts in this field and maybe can help us. We have been told there is no one else in Uk with these problems and that she is a medical conundrum. Her Haemotologist is also trying to network around others Drs in hopes in finding help.

I would appreciate any thoughts/advice
Regards
Jacqui - mum to Olivia

[curlygirl]

I recommend consulting with the Hematologists at Children's Hospital of Philadelphia (CHOP). That is not where my son is treated because we don't live that close, but I grew up around there, and CHOP sees the Pediatric patients from southern New Jersey, the eastern side of Pennsylvania, and all of Delaware, so they see a lot of cases in a year. Aplastic Anemia presents in a lot of different ways and I'm not sure if Drs. have ever discovered if it is the Autoimmune Hepatitis that causes the Aplastic Anemia or vice versa, or if the immune system goes after both at the same time, and the liver issues manifest themselves first. Good luck to you and your daughter!

[Neil Cuadra]

Jacqui,

Olivia's situation is complicated, quite unfortunate, and very likely unique. Still, consultations with the best pediatric specialists could be the key.

I recommend that you consider contacting the Children's Hospital of Wisconsin, in particular pediatric aplastic anemia expert Dr. David Margolis. He has a ton of experience with this disease, including the complications that make every treatment approach a tradeoff among risks.

May I ask how well Olivia is coping with her heath issues? It's particularly hard for sick kids to maintain their mental well-being as they become teenagers, when their illness makes them different from friends and classmates just as their peer relationships and self-image typically become so important to them.

[Jacqui]

Thank you both for responding, I will certainly look into these Hospitals and also inform her UK Drs. Neil, it's been really difficult for Olivia, she hasn't come to terms with her illnesses at all. She has been under a psychologist for a number of years . The difficulty we all have is that the fact that she was diagnosed incidentally through a blood test she had to see if she was able to have some tablet medications for acne that she had. There were no issues regarding symptoms of Coeliac disease, Liver disease or Blood/bone marrow issue. All 3 were diagnosed at the same time when she was nearly 10 yrs. Also, she is a twin and her twin brother is fine. We are constantly at various medical appts. All we keep getting told is that she is a medical mystery and they all are saying that something has happened to her immune system but they don't know what. I wish "Dr House" was real. I'm sure he would have the answer.

[Neil Cuadra]

Please let us know what you learn from other consultations you are able to arrange.

I'm glad that your son is OK. As I'm sure you know, a fraternal twin would make a great transplant donor, if only your daughter was eligible.

If you and the psychologist think it would help, you could try and connect your daughters with other teens facing serious illnesses. I've recently been looking for resources to recommend, and I learned of one just yesterday: Ashley Jade on Facebook. There are unlikely to be other teens with your daughter's combination of conditions, but the issues that concern teens are less likely to be about the medical details than they are for parents.

To help with any issues at school, you might want to read the handy reference booklet Supporting Students with Bone Marrow Failure Diseases from the Aplastic Anemia & MDS International Foundation.