Eleora Toomey

Eleora’s Story

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Eleora Toomey, Partial Trisomy 13, Partial Deletion 9, 8/27/2002, Wake Forest, NC, USA

Eleora Toomey PTR13ParDel9 8mosI will start this story as most of them do with the birth of our beautiful baby girl. Eleora was born at 38 weeks on August 27 2002. Of course she had to do it in her own way being breech and hearing impaired.

Immediately the doctors noticed she wasn’t breathing well and saw on an x-ray that her heart looked a little strange. She was born missing the wall between her left and right ventricles a VSD (ventricular septal defect).

By 5 ½ weeks old we could no longer keep her out of congestive heart failure and she couldn’t get her weight above 6 lbs. It was time for open heart surgery. The recovery time should have been about 4 days but of course Eleora spent 30 days in the hospital mainly because of seizures and a floppy airway. This means that every time they tried to get her off the ventilator her airway would flop closed and she couldn’t breathe.

Then she got an intestinal infection which caused her to be unable to eat for 16 days. During our stay at Duke University hospital recovering from heart surgery we were told that Eleora had Partial Trisomy 13 with a partial deletion of 9. For months after we went home I tried to find any information I could about what her future would be like. There was nothing about her specific genetics.

Next we got her hearing tests done and found she needed hearing aids. Then came glasses, really bad reflux, Kidney reflux, Umbilical hernia repair, tonsillectomy & adenoidectomy (for sleep apnea), multiple ear tubes, Nissen fundoplication for reflux, and Strabisma surgery.

When Eleora was 4 she started getting aspirated pneumonia 6 in 6 months that is when she got her first g-tube. When the surgeon x-rayed her belly for the g-tube replacement he found she had malrotation of her intestines. So he fixed that when he placed the G–tube and her appendix was on the wrong side of her body so that had to come out.

For years Eleora had EEG’s and the doctor would say her brain waves are irregular but it looks like that is just the norm for her. Then they put her on Seizure medications and her brain waves went to a more normal looking wave. She has multiple types of seizures and now has a VNS (Vagal nerve stimulator). The first VNS got infected, was taken out and replaced a few months later and now it works great. When putting the VNS they surgeon had to move the nerves in her neck to attach it to the vagal nerve and she developed Horner’s syndrome.

For a number of years she did really well with than in 2012 her belly started swelling really big we were in and out of the hospital for 7 months she was in horrible pain and every x ray showed just a bunch of air in her intestines. Finally her regular surgeon got on the Phone with doctors at Boston children’s Hospital and Duke University Hospital they diagnosed her with Aerophasia she was unable to get rid of air trapped in her stomach and intestines. It got so bad the pressure of the air stopped her feeding pump from working. They did something never done for this disease before and put a g-tube button in her cecum. This way we can use it and her g-tube to drain air and keep her comfortable. While in there the surgeon found that Eleora’s intestines had fallen and wrapped around her stomach.

The newest and latest issues started in 2014. We brought her to the emergency room because Eleora had a high fever and an intestinal bleed so we couldn’t keep her comfortable at home. The hospital doctors noticed that Eleora’s platelets were at 16,000 the normal range is 150,000-400,000. They were quite worried and not sure what was causing it.  After a little while it dropped to 7,000 and she started getting spontaneous bleeds. We were transferred to UNC Hospital where the Hematologist diagnosed Eleora with Atypical Hymolotic Uremic Syndrome. Of course another very rare syndrome where the bone marrow makes too many platelets but uses all the platelets it makes to create blood clots that can cause damage to major organs. Luckily the clots went to her toes and not anywhere major.

The treatment for this in the past has been to replace the platelets and within a year the kidneys fail. Luckily a new treatment has come out called Solaris/ Eculizmab.  It is an infusion Eleora gets weekly. We hope to go bi-weekly or monthly at some point but for now she can’t go any longer than a week before her platelets start to drop again. When we went in to get her first out of hospital treatment they were unable to get an IV in her so we had to have a port placed.

The newest diagnosis Eleora has is called Wandering Spleen (I know it sounds like a great name for a band). The ligaments holding her spleen in place have loosened and detached.  It is supposed to be on the upper left side under her ribs but is now floating in the lower left quadrant. This is going to need to be fixed, and this brings us to the present.   Eleora and I are hanging in the ER waiting for them to send us up to the floor. Surgery is scheduled for tomorrow but we have to get her platelets back up.

Update, 7/29/2014:  When we last left you we were waiting to see what was happening with Eleora’s wondering spleen or as my husband calls it the “unruly organ” She had surgery at the end of June and we found out that Eleora’s body does not develop adhesion’s. So her intestines had fallen AGAIN and this time wrapped around her Cecostomy tube. They had to build a wall in her abdomen and put her intestines on one side and everything else on the other. She did great for surgery but 2 days later developed MRSA in her blood stream. She had to be put back on the Vent and ended up in acute renal failure and renal failure. Eleora had to have a chest tube placed, but believe it or not 2 weeks after surgery was well enough to come home. We are 4 weeks post op now and she is doing really well, not back to normal but much better than expected. She still has a long recovery but Thank GOD she is here and doing well.

Cynthia Toomey
toomey@nc.rr.com